AiPD: Autoinhibited Protein Database

Q8IXJ6

Gene name	SIRT2 (SIR2L, SIR2L2)
Protein name	NAD-dependent protein deacetylase sirtuin-2
Names	Regulatory protein SIR2 homolog 2, SIR2-like protein 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:22933
EC number	2.3.1.286: Transferring groups other than amino-acyl groups
Protein Class	NAD-DEPENDENT PROTEIN DEACYLASE SIRTUIN-5, MITOCHONDRIAL-RELATED (PTHR11085)

Descriptions

Sirtuin 2 (SIRT2) is a NAD+ dependent deacetylase that has been associated with neurodegeneration and cancer. The C-terminal region (CT) of SIRT2 functions as an autoinhibitory region that regulates the deacetylation activity of SIRT2. Phosphorylation at S331 of SIRT2 isoform 2 causes large conformational changes in the CT that enhance the autoinhibitory activity of the CT region. This serine residue is located within the naturally disordered C-terminal region (CT, residues 320-352 in isoform 2).

Autoinhibitory domains (AIDs)

Target domain	26-319 (Catalytic core domain)
Relief mechanism	Others
Assay	Deletion assay, Structural analysis

AID

320-352 (C-terminal region)

Target domain

26-319 (Catalytic core domain)

Relief mechanism

Others (Oxidative stress)

Assay

Deletion assay, Structural analysis

Accessory elements

No accessory elements

References

Li J et al. (2015) "Insight into the Mechanism of Intramolecular Inhibition of the Catalytic Activity of Sirtuin 2 (SIRT2)", PloS one, 10, e0139095

Xu Y et al. (2014) "Oxidative stress activates SIRT2 to deacetylate and stimulate phosphoglycerate mutase", Cancer research, 74, 3630-42

Finnin MS et al. (2001) "Structure of the histone deacetylase SIRT2", Nature structural biology, 8, 621-5

Autoinhibited structure

Activated structure

40 structures for Q8IXJ6

Entry ID	Method	Resolution	Chain	Position	Source
1J8F	X-ray	170 A	A/B/C	34-356	PDB
3ZGO	X-ray	163 A	A/B/C	34-356	PDB
3ZGV	X-ray	227 A	A/B	34-356	PDB
4L3O	X-ray	252 A	A/B/C/D	55-356	PDB
4R8M	X-ray	210 A	A/B	38-356	PDB
4RMG	X-ray	188 A	A	56-356	PDB
4RMH	X-ray	142 A	A	56-356	PDB
4RMI	X-ray	145 A	A	56-356	PDB
4RMJ	X-ray	187 A	A/B	56-356	PDB
4X3O	X-ray	150 A	A	52-355	PDB
4X3P	X-ray	180 A	A	52-355	PDB
4Y6L	X-ray	160 A	A/B	52-356	PDB
4Y6O	X-ray	160 A	A/B	52-356	PDB
4Y6Q	X-ray	190 A	A/B/C/D	52-356	PDB
5D7O	X-ray	163 A	A/B	50-356	PDB
5D7P	X-ray	176 A	A/B	56-356	PDB
5D7Q	X-ray	201 A	A/B	56-356	PDB
5DY4	X-ray	177 A	A	56-356	PDB
5DY5	X-ray	195 A	A	56-356	PDB
5FYQ	X-ray	300 A	A/B	1-356	PDB
5G4C	X-ray	210 A	A/B	34-356	PDB
5MAR	X-ray	189 A	A/B	56-356	PDB
5MAT	X-ray	207 A	A/C	56-356	PDB
5Y0Z	X-ray	200 A	A/B	52-356	PDB
5Y5N	X-ray	230 A	A	32-356	PDB
5YQL	X-ray	160 A	A	56-356	PDB
5YQM	X-ray	174 A	A	56-356	PDB
5YQN	X-ray	160 A	A	56-356	PDB
5YQO	X-ray	148 A	A	56-356	PDB
6L65	X-ray	180 A	A	50-355	PDB
6L66	X-ray	217 A	A	52-355	PDB
6L71	X-ray	211 A	A	52-355	PDB
6L72	X-ray	250 A	A	52-355	PDB
6NR0	X-ray	245 A	A/B	38-356	PDB
6QCN	X-ray	223 A	A/B	55-356	PDB
7BOS	X-ray	170 A	A	52-356	PDB
7BOT	X-ray	170 A	A	52-356	PDB
8OWZ	X-ray	165 A	A	56-356	PDB
8TGP	X-ray	176 A	A	34-356	PDB
AF-Q8IXJ6-F1	Predicted				AlphaFoldDB

688 variants for Q8IXJ6

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1431209574	5	D>N		No	gnomAD
CA405730788 rs1431209574	5	D>N		No	ClinGen gnomAD
rs748872953	6	P>A		No	ExAC TOPMed gnomAD
CA9422092 rs748872953	6	P>A		No	ClinGen ExAC TOPMed gnomAD
rs904071840	6	P>L		No	TOPMed gnomAD
CA308161239 rs904071840	6	P>L		No	ClinGen TOPMed gnomAD
rs774995182	8	H>Y		No	ExAC gnomAD
rs774995182 CA9422072	8	H>Y		No	ClinGen ExAC gnomAD
rs1362615136	9	P>T		No	gnomAD
CA405730753 rs1362615136	9	P>T		No	ClinGen gnomAD
rs1418810049	12	T>I		No	TOPMed gnomAD
CA405730729 rs1418810049	12	T>I		No	ClinGen TOPMed gnomAD
rs1473123135	14	A>P		No	TOPMed gnomAD
CA405730718 rs1473123135	14	A>P		No	ClinGen TOPMed gnomAD
rs776314748	17	V>E		No	ExAC gnomAD
CA9422069 rs776314748	17	V>E		No	ClinGen ExAC gnomAD
rs1428015087	17	V>M		No	gnomAD
CA405730700 rs1428015087	17	V>M		No	ClinGen gnomAD
rs201682459 CA9422068	18	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs201682459	18	Q>H		No	ExAC TOPMed gnomAD
rs1293047926 CA405730692	18	Q>P		No	ClinGen TOPMed
rs1293047926	18	Q>P		No	TOPMed
rs1600134981 CA405730680	20	A>T		No	ClinGen Ensembl
rs1600134981	20	A>T		No	Ensembl
rs777560427	20	A>V		No	ExAC gnomAD
CA9422066 rs777560427	20	A>V		No	ClinGen ExAC gnomAD
rs370835884 CA9422019	22	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs370835884	22	D>N		No	ESP ExAC TOPMed gnomAD
rs370835884 CA308157797	22	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs370835884	22	D>Y		No	ESP ExAC TOPMed gnomAD
rs758838464	23	S>L		No	ExAC gnomAD
rs758838464 CA9422017	23	S>L		No	ClinGen ExAC gnomAD
rs765827093	25	S>*		No	ExAC gnomAD
CA9422015 rs765827093	25	S>*		No	ClinGen ExAC gnomAD
rs765827093 CA405730582	25	S>L		No	ClinGen ExAC gnomAD
rs765827093	25	S>L		No	ExAC gnomAD
rs996409143	26	D>G		No	gnomAD
rs996409143 CA308157791	26	D>G		No	ClinGen gnomAD
rs200832504	27	S>C		No	ESP ExAC TOPMed gnomAD
rs200832504 CA9422014	27	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1600127235	28	E>G		No	Ensembl
rs1600127235 CA405730565	28	E>G		No	ClinGen Ensembl
CA308157782 rs748102696	30	G>E		No	ClinGen TOPMed
rs748102696	30	G>E		No	TOPMed
rs748102696 CA405730551	30	G>V		No	ClinGen TOPMed
rs748102696	30	G>V		No	TOPMed
rs1019096585	31	A>S		No	Ensembl
CA308157773 rs1019096585	31	A>S		No	ClinGen Ensembl
rs1019096585	31	A>T		No	Ensembl
CA308157776 rs1019096585	31	A>T		No	ClinGen Ensembl
rs926292218	32	A>T		No	TOPMed gnomAD
COSM996185 rs926292218 CA308157764	32	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs767144427	32	A>V		No	ExAC gnomAD
rs767144427 CA9422010	32	A>V		No	ClinGen ExAC gnomAD
rs199515794	34	G>R		No	ExAC TOPMed gnomAD
CA9422009 rs199515794	34	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1460165551	36	A>E		No	gnomAD
CA405730520 rs1460165551	36	A>E		No	ClinGen gnomAD
CA405730494 rs1172707908	38	M>T		No	ClinGen gnomAD
rs1172707908	38	M>T		No	gnomAD
CA9422008 rs201344394	38	M>V		No	ClinGen ExAC TOPMed gnomAD
rs201344394	38	M>V		No	ExAC TOPMed gnomAD
rs200012062	42	R>Q		No	ExAC TOPMed gnomAD
rs200012062 CA9421967	42	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs765083798	42	R>W		No	ExAC TOPMed gnomAD
rs765083798 CA9421968	42	R>W		No	ClinGen ExAC TOPMed gnomAD
CA9421966 RCV000955223 rs45535036	44	L>F		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs45535036	44	L>F		No	1000Genomes ESP ExAC TOPMed gnomAD
rs200819077	45	F>L		No	Ensembl
rs200819077 CA308157326	45	F>L		No	ClinGen Ensembl
rs376694959 CA9421965	48	T>M		No	ClinGen ESP ExAC gnomAD
rs376694959	48	T>M		No	ESP ExAC gnomAD
rs1201810649	49	L>I		No	gnomAD
CA405730424 rs1201810649	49	L>I		No	ClinGen gnomAD
CA9421963 rs546115964	50	S>G		No	ClinGen 1000Genomes ExAC gnomAD
rs546115964	50	S>G		No	1000Genomes ExAC gnomAD
CA308157303 rs543937371	51	L>P		No	ClinGen Ensembl
rs543937371	51	L>P		No	Ensembl
rs575999768	51	L>V		No	1000Genomes ExAC gnomAD
rs575999768 CA9421962	51	L>V		No	ClinGen 1000Genomes ExAC gnomAD
CA9421961 rs762039728	55	K>N		No	ClinGen ExAC gnomAD
rs762039728	55	K>N		No	ExAC gnomAD
CA9421959 rs139357839	57	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs139357839	57	R>H		No	ESP ExAC TOPMed gnomAD
rs139357839	57	R>L		No	ESP ExAC TOPMed gnomAD
rs139357839 CA405730369	57	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs774515802	57	R>S		No	ExAC TOPMed gnomAD
CA9421960 rs774515802	57	R>S		No	ClinGen ExAC TOPMed gnomAD
rs749731782	60	D>N		No	ExAC TOPMed gnomAD
rs749731782 CA9421958	60	D>N		No	ClinGen ExAC TOPMed gnomAD
rs200888217	61	E>D		No	Ensembl
CA308157270 rs200888217	61	E>D		No	ClinGen Ensembl
rs920534440	61	E>K		No	Ensembl
rs920534440 CA308157277	61	E>K		No	ClinGen Ensembl
rs1403129868	62	L>P		No	gnomAD
rs1403129868 CA405730342	62	L>P		No	ClinGen gnomAD
rs1034418160	64	L>F		No	TOPMed gnomAD
rs1034418160 CA308157255	64	L>F		No	ClinGen TOPMed gnomAD
CA405730328 rs1600126259	65	E>K		No	ClinGen Ensembl
rs1600126259	65	E>K		No	Ensembl
rs770557472	66	G>V		No	ExAC gnomAD
CA9421956 rs770557472	66	G>V		No	ClinGen ExAC gnomAD
CA405730315 rs1600126238	67	V>M		No	ClinGen Ensembl
rs1600126238	67	V>M		No	Ensembl
rs201911244	69	R>L		No	1000Genomes ExAC TOPMed gnomAD
rs201911244 CA405730301	69	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201911244	69	R>Q		No	1000Genomes ExAC TOPMed gnomAD
rs201911244 CA9421953	69	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199676461	69	R>W		No	ESP ExAC TOPMed gnomAD
CA9421954 rs199676461	69	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs764664021	70	Y>D		No	Ensembl
CA308157229 rs764664021	70	Y>D		No	ClinGen Ensembl
rs1037998278	71	M>I		No	TOPMed
rs1037998278 CA308157223	71	M>I		No	ClinGen TOPMed
CA9421952 rs752424589	71	M>L		No	ClinGen ExAC TOPMed gnomAD
rs752424589	71	M>L		No	ExAC TOPMed gnomAD
rs752424589 CA405730292	71	M>V		No	ClinGen ExAC TOPMed gnomAD
rs752424589	71	M>V		No	ExAC TOPMed gnomAD
CA308157210 rs376265776	73	S>N		No	ClinGen ESP TOPMed gnomAD
rs376265776	73	S>N		No	ESP TOPMed gnomAD
rs200563255 CA9421951 COSM711535	73	S>R	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs200563255	73	S>R		No	ESP ExAC TOPMed gnomAD
CA9421949 rs199594239	74	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs199594239	74	E>K		No	ESP ExAC TOPMed gnomAD
CA9421948 rs201405136	75	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs201405136	75	R>C		No	ESP ExAC TOPMed gnomAD
rs200520235	75	R>H		No	ExAC TOPMed gnomAD
rs200520235 CA9421947	75	R>H		No	ClinGen ExAC TOPMed gnomAD
CA405730244 rs1351485075	76	C>F		No	ClinGen TOPMed
rs1351485075	76	C>F		No	TOPMed
rs146760070 CA9421911	77	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs146760070	77	R>C		No	ESP ExAC TOPMed gnomAD
rs146760070	77	R>G		No	ESP ExAC TOPMed gnomAD
rs146760070 CA308155241	77	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs773864674	77	R>H		No	ExAC TOPMed gnomAD
rs773864674 CA9421910	77	R>H		No	ClinGen ExAC TOPMed gnomAD
rs773864674 CA9421909	77	R>L		No	ClinGen ExAC TOPMed gnomAD
rs773864674	77	R>L		No	ExAC TOPMed gnomAD
rs773864674	77	R>P		No	ExAC TOPMed gnomAD
rs773864674 CA308155230	77	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1360499204 CA405730234	78	R>S		No	ClinGen TOPMed gnomAD
rs1360499204	78	R>S		No	TOPMed gnomAD
rs1600120923 CA405730227	80	I>F		No	ClinGen Ensembl
rs1600120923	80	I>F		No	Ensembl
rs1455261976	80	I>M		No	TOPMed
CA405730221 rs1455261976	80	I>M		No	ClinGen TOPMed
CA308155219 rs373609953	83	V>L		No	ClinGen ESP
rs373609953	83	V>L		No	ESP
rs143528673	87	I>F		No	ESP ExAC TOPMed gnomAD
rs143528673 CA9421906	87	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs143528673	87	I>L		No	ESP ExAC TOPMed gnomAD
rs143528673 CA405730182	87	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1453825601	88	S>A		No	TOPMed
rs1453825601 CA405730174	88	S>A		No	ClinGen TOPMed
rs934433059	88	S>F		No	TOPMed
CA308155206 rs934433059	88	S>F		No	ClinGen TOPMed
rs750920243	90	S>F		No	ExAC TOPMed gnomAD
rs750920243 CA9421875	90	S>F		No	ClinGen ExAC TOPMed gnomAD
rs201249832 CA308155204	90	S>P		No	ClinGen gnomAD
rs201249832	90	S>P		No	gnomAD
CA9421872 rs200814071	91	A>S		No	ClinGen ExAC TOPMed gnomAD
rs200814071	91	A>S		No	ExAC TOPMed gnomAD
CA9421873 rs200814071	91	A>T		No	ClinGen ExAC TOPMed gnomAD
rs200814071	91	A>T		No	ExAC TOPMed gnomAD
rs1428868182	95	D>H		No	TOPMed gnomAD
rs1428868182 CA405730125	95	D>H		No	ClinGen TOPMed gnomAD
CA405730126 rs1428868182	95	D>N		No	ClinGen TOPMed gnomAD
rs1428868182	95	D>N		No	TOPMed gnomAD
rs1469719084 CA405730111	96	F>L		No	ClinGen TOPMed gnomAD
rs1469719084	96	F>L		No	TOPMed gnomAD
rs1184695675 CA405730116	96	F>V		No	ClinGen gnomAD
rs1184695675	96	F>V		No	gnomAD
rs769376141	97	R>C		No	ExAC TOPMed gnomAD
CA308155099 rs769376141	97	R>C		No	ClinGen ExAC TOPMed gnomAD
rs769376141	97	R>G		No	ExAC TOPMed gnomAD
CA405730110 rs769376141	97	R>G		No	ClinGen ExAC TOPMed gnomAD
rs374491281	97	R>H		No	ESP ExAC TOPMed gnomAD
CA9421869 rs374491281	97	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA9421870 rs769376141	97	R>S		No	ClinGen ExAC TOPMed gnomAD
rs769376141	97	R>S		No	ExAC TOPMed gnomAD
rs1227795348	98	S>C		No	gnomAD
CA405730103 rs1227795348	98	S>C		No	ClinGen gnomAD
CA405730106 rs1259551409	98	S>P		No	ClinGen gnomAD
rs1259551409	98	S>P		No	gnomAD
rs1295226901	99	P>L		No	gnomAD
rs1295226901 CA405730097	99	P>L		No	ClinGen gnomAD
rs776368661	99	P>S		No	ExAC gnomAD
CA9421868 rs776368661	99	P>S		No	ClinGen ExAC gnomAD
rs770654234	100	S>Y		No	ExAC gnomAD
CA9421867 rs770654234	100	S>Y		No	ClinGen ExAC gnomAD
rs1482531642	102	G>D		No	TOPMed
rs1482531642 CA405730084	102	G>D		No	ClinGen TOPMed
CA9421865 rs76265208	102	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs76265208	102	G>R		No	1000Genomes ExAC TOPMed gnomAD
rs76265208	102	G>S		No	1000Genomes ExAC TOPMed gnomAD
CA9421864 rs76265208	102	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA405730079 rs1440239604	103	L>F		No	ClinGen gnomAD
rs1440239604	103	L>F		No	gnomAD
CA9421863 rs748298105	104	Y>C		No	ClinGen ExAC gnomAD
rs748298105	104	Y>C		No	ExAC gnomAD
rs1300115367	106	N>D		No	gnomAD
CA405730059 rs1300115367	106	N>D		No	ClinGen gnomAD
rs1462742971 CA405730056	106	N>S		No	ClinGen gnomAD
rs1462742971	106	N>S		No	gnomAD
CA9421862 rs779149028	107	L>I		No	ClinGen ExAC TOPMed gnomAD
rs779149028	107	L>I		No	ExAC TOPMed gnomAD
rs551071804 CA9421861	108	E>K		No	ClinGen ExAC gnomAD
rs551071804	108	E>K		No	ExAC gnomAD
rs200159438	111	H>R		No	ExAC gnomAD
rs200159438 CA9421860	111	H>R		No	ClinGen ExAC gnomAD
rs780421129 CA9421859	113	P>L		No	ClinGen ExAC gnomAD
rs780421129	113	P>L		No	ExAC gnomAD
rs1466746052 CA405730011	113	P>T		No	ClinGen gnomAD
rs1466746052	113	P>T		No	gnomAD
rs200307334	115	P>L		No	ExAC TOPMed gnomAD
rs200307334 CA9421858	115	P>L		No	ClinGen ExAC TOPMed gnomAD
CA308155040 rs11551762	117	A>S		No	ClinGen Ensembl
rs11551762	117	A>S		No	Ensembl
rs199610453	120	E>D		No	ExAC TOPMed gnomAD
CA9421856 rs199610453	120	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1389738435	120	E>K		No	TOPMed
rs1389738435 CA405729966	120	E>K		No	ClinGen TOPMed
CA308155024 rs201156500	122	S>N		No	ClinGen gnomAD
rs201156500	122	S>N		No	gnomAD
rs200366538	124	F>L		No	ExAC TOPMed gnomAD
CA9421854 rs200366538	124	F>L		No	ClinGen ExAC TOPMed gnomAD
rs199856206	128	P>L		No	ExAC TOPMed gnomAD
COSM996184 rs199856206 CA9421826	128	P>L	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1441267044	129	E>A		No	TOPMed
rs1441267044 CA405729887	129	E>A		No	ClinGen TOPMed
rs1206306591	130	P>S		No	gnomAD
CA405729880 rs1206306591	130	P>S		No	ClinGen gnomAD
rs775649914 CA308154888	131	F>L		No	ClinGen ExAC TOPMed gnomAD
rs775649914	131	F>L		No	ExAC TOPMed gnomAD
CA9421824 rs749382036	131	F>V		No	ClinGen ExAC TOPMed gnomAD
rs749382036	131	F>V		No	ExAC TOPMed gnomAD
rs1600119545 CA405729868	132	F>V		No	ClinGen Ensembl
rs1600119545	132	F>V		No	Ensembl
CA9421820 rs150309258	133	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150309258	133	A>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs150309258 CA9421821	133	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150309258	133	A>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs757666044	133	A>V		No	ExAC gnomAD
rs757666044 CA9421819	133	A>V		No	ClinGen ExAC gnomAD
rs143889239	135	A>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs143889239 CA9421817	135	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9421816 rs374519216	136	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs374519216	136	K>R		No	ESP ExAC TOPMed gnomAD
CA9421815 rs753231190	137	E>K		No	ClinGen ExAC TOPMed gnomAD
rs753231190	137	E>K		No	ExAC TOPMed gnomAD
rs755684272	140	P>L		No	ExAC TOPMed gnomAD
CA9421813 rs755684272	140	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1029032321	143	F>L		No	Ensembl
CA308154843 rs1029032321	143	F>L		No	ClinGen Ensembl
rs1477759874	143	F>L		No	TOPMed
rs1477759874 CA405729800	143	F>L		No	ClinGen TOPMed
rs1177790257 CA405729790	144	K>R		No	ClinGen TOPMed
rs1177790257	144	K>R		No	TOPMed
rs906959018	146	T>I		No	TOPMed
CA308154594 rs906959018	146	T>I		No	ClinGen TOPMed
rs772516388 CA9421782	147	I>T		No	ClinGen ExAC TOPMed gnomAD
rs772516388	147	I>T		No	ExAC TOPMed gnomAD
rs1250193381	148	C>S		No	TOPMed
CA405729758 rs1250193381	148	C>S		No	ClinGen TOPMed
rs779520276	149	H>R		No	ExAC TOPMed gnomAD
CA9421780 rs779520276	149	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1472469269	149	H>Y		No	TOPMed
rs1472469269 CA405729748	149	H>Y		No	ClinGen TOPMed
CA405729740 rs1313246046	150	Y>C		No	ClinGen gnomAD
rs1313246046	150	Y>C		No	gnomAD
rs868272193	151	F>L		No	gnomAD
CA308154589 rs868272193	151	F>L		No	ClinGen gnomAD
rs1158692353	152	M>T		No	gnomAD
CA405729724 rs1158692353	152	M>T		No	ClinGen gnomAD
rs1471694390	153	R>C		No	gnomAD
COSM996182 rs1471694390 CA405729719	153	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs144373891	153	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD
RCV000966482 CA9421778 rs144373891	153	R>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs780865991	157	D>A		No	ExAC gnomAD
CA9421777 rs780865991	157	D>A		No	ClinGen ExAC gnomAD
rs1485248024 CA405729694	157	D>Y		No	ClinGen gnomAD
rs1485248024	157	D>Y		No	gnomAD
CA9421776 rs756924846	158	K>Q		No	ClinGen ExAC gnomAD
rs756924846	158	K>Q		No	ExAC gnomAD
rs1316970707	159	G>R		No	gnomAD
rs1316970707 CA405729680	159	G>R		No	ClinGen gnomAD
rs1568401521	161	L>F		No	Ensembl
CA405729669 rs1568401521	161	L>F		No	ClinGen Ensembl
rs1049750023 CA308154582	163	R>C		No	ClinGen TOPMed gnomAD
rs1049750023	163	R>C		No	TOPMed gnomAD
rs1049750023 CA405729659	163	R>G		No	ClinGen TOPMed gnomAD
rs1049750023	163	R>G		No	TOPMed gnomAD
rs751291175	163	R>H		No	ExAC TOPMed gnomAD
CA9421775 rs751291175	163	R>H		No	ClinGen ExAC TOPMed gnomAD
rs777682267	165	Y>N		No	ExAC gnomAD
CA9421774 rs777682267	165	Y>N		No	ClinGen ExAC gnomAD
rs752565046	166	T>M		No	ExAC TOPMed gnomAD
rs752565046 CA9421772	166	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1158466489	167	Q>K		No	gnomAD
rs1158466489 CA405729636	167	Q>K		No	ClinGen gnomAD
rs1195377700	169	I>L		No	TOPMed
rs1195377700 CA405729606	169	I>L		No	ClinGen TOPMed
rs975774968	169	I>T		No	TOPMed
rs975774968 CA308151791	169	I>T		No	ClinGen TOPMed
rs200906111 CA9421753	170	D>G		No	ClinGen ExAC TOPMed gnomAD
rs200906111	170	D>G		No	ExAC TOPMed gnomAD
CA308151790 rs550825769	171	T>N		No	ClinGen 1000Genomes
rs550825769	171	T>N		No	1000Genomes
rs200871138	174	R>*		No	1000Genomes ExAC gnomAD
rs200871138 CA9421751	174	R>*		No	ClinGen 1000Genomes ExAC gnomAD
CA9421750 rs756233396	174	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs756233396	174	R>Q		No	ExAC TOPMed gnomAD
rs1226914494	176	A>V		No	gnomAD
CA405729563 rs1226914494	176	A>V		No	ClinGen gnomAD
rs1398581419	177	G>A		No	TOPMed
CA405729558 rs1398581419	177	G>A		No	ClinGen TOPMed
CA405729561 rs74490433	177	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs74490433	177	G>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs74490433	177	G>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs74490433 CA9421749	177	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1388786657	180	Q>*		No	gnomAD
CA405729543 rs1388786657	180	Q>*		No	ClinGen gnomAD
rs761942195	180	Q>R		No	ExAC gnomAD
rs761942195 CA9421747	180	Q>R		No	ClinGen ExAC gnomAD
rs1394523935 CA405729523	182	D>E		No	ClinGen TOPMed
rs1394523935	182	D>E		No	TOPMed
rs764400439 CA9421745	182	D>N		No	ClinGen ExAC gnomAD
rs764400439	182	D>N		No	ExAC gnomAD
rs1166630978	184	V>M		No	gnomAD
CA405729514 rs1166630978	184	V>M		No	ClinGen gnomAD
rs201307475 CA9421744	185	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs201307475	185	E>Q		No	ExAC TOPMed gnomAD
CA405729496 rs1324531579 COSM996181	186	A>V	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1324531579	186	A>V		No	TOPMed
rs1430999088 CA405729487	188	G>S		No	ClinGen gnomAD
rs1430999088	188	G>S		No	gnomAD
rs1600109632 CA405729481	189	T>P		No	ClinGen Ensembl
rs1600109632	189	T>P		No	Ensembl
rs771697414	194	H>Q		No	ExAC gnomAD
rs771697414 CA9421739	194	H>Q		No	ClinGen ExAC gnomAD
rs377197576	194	H>Y		No	Ensembl
rs377197576 CA308151788	194	H>Y		No	ClinGen Ensembl
rs1203459352	195	C>F		No	gnomAD
CA405729438 rs1203459352	195	C>F		No	ClinGen gnomAD
rs202089013 CA9421737	195	C>G		No	ClinGen 1000Genomes ExAC gnomAD
rs202089013	195	C>G		No	1000Genomes ExAC gnomAD
rs202089013	195	C>R		No	1000Genomes ExAC gnomAD
CA9421738 rs202089013	195	C>R		No	ClinGen 1000Genomes ExAC gnomAD
rs200616294	196	V>I		No	ESP TOPMed gnomAD
CA308151787 COSM1393477 rs200616294	196	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP TOPMed gnomAD
rs200503228	198	A>G		No	ESP ExAC TOPMed gnomAD
CA9421733 rs200503228	198	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000962683 CA9421734 rs34321258	198	A>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs34321258	198	A>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs200503228	198	A>V		No	ESP ExAC TOPMed gnomAD
rs200503228 CA9421732	198	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs767520526	200	C>Y		No	ExAC TOPMed
CA9421731 rs767520526	200	C>Y		No	ClinGen ExAC TOPMed
rs756288624	201	R>Q		No	ExAC TOPMed gnomAD
rs756288624 CA9421729	201	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9421730 rs199646012	201	R>W		No	ClinGen ExAC gnomAD
rs199646012	201	R>W		No	ExAC gnomAD
CA9421727 rs200953200	203	E>K		No	ClinGen ExAC TOPMed gnomAD
rs200953200	203	E>K		No	ExAC TOPMed gnomAD
rs1418097146 CA405729377	205	P>A		No	ClinGen TOPMed
rs1418097146	205	P>A		No	TOPMed
rs776137646 CA9421726	205	P>L		No	ClinGen ExAC gnomAD
rs776137646	205	P>L		No	ExAC gnomAD
rs1418097146	205	P>T		No	TOPMed
CA405729378 rs1418097146	205	P>T		No	ClinGen TOPMed
rs1171962029	207	S>R		No	TOPMed gnomAD
CA405729361 rs1171962029	207	S>R		No	ClinGen TOPMed gnomAD
rs765774257	208	W>R		No	ExAC gnomAD
CA9421725 rs765774257	208	W>R		No	ClinGen ExAC gnomAD
rs146903375 CA9421724	209	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs146903375	209	M>I		No	ESP ExAC TOPMed gnomAD
rs372384472 CA405729338	210	K>N		No	ClinGen gnomAD
rs372384472	210	K>N		No	gnomAD
CA9421723 rs772729178	211	E>*		No	ClinGen ExAC gnomAD
rs772729178	211	E>*		No	ExAC gnomAD
rs570453680 CA405729311	212	K>N		No	ClinGen 1000Genomes gnomAD
rs570453680 CA405729312	212	K>N		No	ClinGen 1000Genomes gnomAD
rs570453680	212	K>N		No	1000Genomes gnomAD
rs570453680	212	K>N		No	1000Genomes gnomAD
rs774045867	213	I>F		No	ExAC gnomAD
CA405729309 rs774045867	213	I>F		No	ClinGen ExAC gnomAD
rs774045867	213	I>V		No	ExAC gnomAD
rs774045867 CA9421703	213	I>V		No	ClinGen ExAC gnomAD
rs1450081520	215	S>Y		No	TOPMed
CA405729293 rs1450081520	215	S>Y		No	ClinGen TOPMed
CA9421701 rs116099388	217	V>M		No	ClinGen 1000Genomes ExAC TOPMed
rs116099388	217	V>M		No	1000Genomes ExAC TOPMed
rs762603207	218	T>A		No	ExAC TOPMed gnomAD
CA9421700 rs762603207	218	T>A		No	ClinGen ExAC TOPMed gnomAD
rs142022596	218	T>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs142022596 CA9421699	218	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9421696 rs781052184	219	P>L		No	ClinGen ExAC gnomAD
rs781052184	219	P>L		No	ExAC gnomAD
rs201099777	219	P>S		No	ExAC gnomAD
CA9421697 rs201099777	219	P>S		No	ClinGen ExAC gnomAD
rs148082366	220	K>R		No	ESP ExAC TOPMed gnomAD
CA9421695 rs148082366	220	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA405729239 rs1298302687	223	D>E		No	ClinGen gnomAD
rs1298302687	223	D>E		No	gnomAD
rs550762704	224	C>G		No	1000Genomes ExAC TOPMed gnomAD
rs550762704 CA9421694	224	C>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1385891439	224	C>Y		No	gnomAD
rs1385891439 CA405729236	224	C>Y		No	ClinGen gnomAD
CA405729213 rs1568395800	227	L>Q		No	ClinGen Ensembl
rs1568395800	227	L>Q		No	Ensembl
rs1226763996	228	V>E		No	gnomAD
CA405729207 rs1226763996	228	V>E		No	ClinGen gnomAD
rs758645136	229	K>R		No	ExAC TOPMed gnomAD
rs758645136 CA9421692	229	K>R		No	ClinGen ExAC TOPMed gnomAD
rs749545779	231	D>G		No	ExAC gnomAD
rs749545779 CA9421669	231	D>G		No	ClinGen ExAC gnomAD
CA405729191 rs1186107848	231	D>N		No	ClinGen TOPMed
rs1186107848	231	D>N		No	TOPMed
rs749545779 CA405729175	231	D>V		No	ClinGen ExAC gnomAD
rs749545779	231	D>V		No	ExAC gnomAD
CA9421668 rs780476499	232	I>T		No	ClinGen ExAC TOPMed gnomAD
rs780476499	232	I>T		No	ExAC TOPMed gnomAD
CA9421666 COSM233368 rs199824317	233	V>I	lung skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs199824317	233	V>I		No	1000Genomes ESP ExAC TOPMed gnomAD
CA405729158 rs1443845892	234	F>Y		No	ClinGen gnomAD
rs1443845892	234	F>Y		No	gnomAD
rs1308975164	236	G>V		No	gnomAD
CA405729140 rs1308975164	236	G>V		No	ClinGen gnomAD
rs1409624182 CA405729115	240	P>S		No	ClinGen gnomAD
rs1409624182	240	P>S		No	gnomAD
rs866816156	241	A>S		No	Ensembl
CA308151533 rs866816156	241	A>S		No	ClinGen Ensembl
CA9421664 rs201284980	241	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201284980	241	A>V		No	1000Genomes ExAC TOPMed gnomAD
rs752345288 CA9421663	242	R>C		No	ClinGen ExAC TOPMed gnomAD
rs752345288	242	R>C		No	ExAC TOPMed gnomAD
CA9421662 rs199730724	242	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs199730724	242	R>H		No	ESP ExAC TOPMed gnomAD
rs1181132093	246	C>*		No	gnomAD
rs1181132093 CA405729077	246	C>*		No	ClinGen gnomAD
rs1471244776	246	C>R		No	gnomAD
rs1471244776 CA405729080	246	C>R		No	ClinGen gnomAD
CA9421661 rs201927970	246	C>S		No	ClinGen ExAC TOPMed gnomAD
rs201927970	246	C>S		No	ExAC TOPMed gnomAD
rs201927970	246	C>Y		No	ExAC TOPMed gnomAD
rs201927970 CA308151531	246	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs983778630	247	M>I		No	TOPMed gnomAD
rs983778630 CA308151530	247	M>I		No	ClinGen TOPMed gnomAD
rs1481980295 CA405729072	247	M>R		No	ClinGen gnomAD
rs1481980295	247	M>R		No	gnomAD
rs776239943	248	Q>R		No	ExAC gnomAD
rs776239943 CA9421660	248	Q>R		No	ClinGen ExAC gnomAD
rs1441780065 CA405729058	249	S>A		No	ClinGen gnomAD
rs1441780065	249	S>A		No	gnomAD
rs1265689698	250	D>G		No	gnomAD
CA405729038 rs1265689698	250	D>G		No	ClinGen gnomAD
rs1248357660 CA405729021	253	K>Q		No	ClinGen TOPMed
rs1248357660	253	K>Q		No	TOPMed
rs1288349372 CA405728977	259	V>G		No	ClinGen gnomAD
rs1288349372	259	V>G		No	gnomAD
rs930042447	260	M>I		No	TOPMed gnomAD
CA308151503 rs930042447	260	M>I		No	ClinGen TOPMed gnomAD
rs1047139983 CA308151504	260	M>L		No	ClinGen TOPMed
rs1047139983	260	M>L		No	TOPMed
rs199995434	262	T>I		No	ExAC TOPMed gnomAD
CA9421622 rs199995434	262	T>I		No	ClinGen ExAC TOPMed gnomAD
rs199995434	262	T>N		No	ExAC TOPMed gnomAD
rs199995434 CA9421621	262	T>N		No	ClinGen ExAC TOPMed gnomAD
rs974089506	264	L>F		No	Ensembl
rs974089506 CA308151499	264	L>F		No	ClinGen Ensembl
rs1600105502	266	V>G		No	Ensembl
CA405728936 rs1600105502	266	V>G		No	ClinGen Ensembl
rs1036211657	271	S>T		No	TOPMed
CA308151498 rs1036211657	271	S>T		No	ClinGen TOPMed
CA405728882 rs1294380200	274	S>I		No	ClinGen TOPMed gnomAD
rs1294380200	274	S>I		No	TOPMed gnomAD
rs1294380200	274	S>N		No	TOPMed gnomAD
rs1294380200 CA405728884	274	S>N		No	ClinGen TOPMed gnomAD
rs1391350028	275	K>R		No	TOPMed
rs1391350028 CA405728875	275	K>R		No	ClinGen TOPMed
rs200777538	276	A>V		No	ESP ExAC TOPMed gnomAD
CA9421604 rs200777538	276	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs956441512 CA308151491	277	P>L		No	ClinGen Ensembl
rs956441512	277	P>L		No	Ensembl
CA9421602 rs764028671	279	S>P		No	ClinGen ExAC TOPMed gnomAD
rs764028671	279	S>P		No	ExAC TOPMed gnomAD
rs1410800711	281	P>L		No	TOPMed
rs1410800711 CA405728828	281	P>L		No	ClinGen TOPMed
CA9421601 rs758284323	282	R>C		No	ClinGen ExAC gnomAD
rs758284323	282	R>C		No	ExAC gnomAD
rs752774292 CA9421600	282	R>H		No	ClinGen ExAC TOPMed gnomAD
rs752774292	282	R>H		No	ExAC TOPMed gnomAD
rs752774292 CA405728825	282	R>P		No	ClinGen ExAC TOPMed gnomAD
rs752774292	282	R>P		No	ExAC TOPMed gnomAD
rs201431198	283	L>P		No	1000Genomes ExAC TOPMed gnomAD
CA9421599 rs201431198	283	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759725680	288	E>*		No	ExAC gnomAD
rs759725680 CA405728789	288	E>*		No	ClinGen ExAC gnomAD
rs759725680	288	E>K		No	ExAC gnomAD
rs759725680 CA9421596	288	E>K		No	ClinGen ExAC gnomAD
rs377489489	288	E>V		No	ExAC TOPMed gnomAD
rs377489489 CA9421595	288	E>V		No	ClinGen ExAC TOPMed gnomAD
rs145405290	290	A>P		No	ESP TOPMed gnomAD
rs145405290 CA405728775	290	A>P		No	ClinGen ESP TOPMed gnomAD
CA308151489 rs145405290	290	A>S		No	ClinGen ESP TOPMed gnomAD
rs145405290	290	A>S		No	ESP TOPMed gnomAD
CA405728767 rs1288975955	291	G>D		No	ClinGen TOPMed
rs1288975955	291	G>D		No	TOPMed
rs1288975955	291	G>V		No	TOPMed
CA405728768 rs1288975955	291	G>V		No	ClinGen TOPMed
rs766715586 CA9421594	292	Q>R		No	ClinGen ExAC gnomAD
rs766715586	292	Q>R		No	ExAC gnomAD
rs766521494	293	S>*		No	ExAC gnomAD
rs766521494 CA405728745	293	S>*		No	ClinGen ExAC gnomAD
rs766521494	293	S>L		No	ExAC gnomAD
rs766521494 CA9421575	293	S>L		No	ClinGen ExAC gnomAD
rs1467534171 CA405728747	293	S>P		No	ClinGen gnomAD
rs1467534171	293	S>P		No	gnomAD
rs998580258 CA308151303	294	D>G		No	ClinGen TOPMed gnomAD
rs998580258	294	D>G		No	TOPMed gnomAD
rs760819880	294	D>N		No	ExAC TOPMed gnomAD
rs760819880 CA9421574	294	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1369524108	295	P>T		No	gnomAD
rs1369524108 CA405728737	295	P>T		No	ClinGen gnomAD
rs773572964 CA9421573	296	F>S		No	ClinGen ExAC gnomAD
rs773572964	296	F>S		No	ExAC gnomAD
CA405728720 rs1442846231	297	L>R		No	ClinGen gnomAD
rs1442846231	297	L>R		No	gnomAD
rs1249919598 CA405728700	300	I>T		No	ClinGen gnomAD
rs1249919598	300	I>T		No	gnomAD
CA405728675 rs201892883	304	G>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs201892883	304	G>*		No	ESP ExAC TOPMed gnomAD
rs201892883	304	G>R		No	ESP ExAC TOPMed gnomAD
CA9421570 rs201892883	304	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA405728654 rs1211378840	307	M>R		No	ClinGen gnomAD
rs1211378840	307	M>R		No	gnomAD
CA405728647 rs1449894424	308	D>V		No	ClinGen TOPMed gnomAD
rs1449894424	308	D>V		No	TOPMed gnomAD
rs769428350	309	F>L		No	ExAC TOPMed gnomAD
CA9421569 rs769428350	309	F>L		No	ClinGen ExAC TOPMed gnomAD
CA405728622 rs1264779561	311	S>F		No	ClinGen gnomAD
rs1264779561	311	S>F		No	gnomAD
rs1312424575 CA405728615	312	K>N		No	ClinGen TOPMed
rs1312424575	312	K>N		No	TOPMed
rs1243604840	313	K>T		No	gnomAD
rs1243604840 CA405728610	313	K>T		No	ClinGen gnomAD
rs1391765148 CA405728595	315	Y>C		No	ClinGen gnomAD
rs1391765148	315	Y>C		No	gnomAD
rs1397338323	318	V>A		No	gnomAD
CA405728560 rs1397338323	318	V>A		No	ClinGen gnomAD
rs199549032	318	V>M		No	ExAC gnomAD
CA9421550 rs199549032	318	V>M		No	ClinGen ExAC gnomAD
rs1219342252 CA405728527	322	G>D		No	ClinGen gnomAD
rs1219342252	322	G>D		No	gnomAD
rs1012161488	322	G>R		No	Ensembl
CA308151248 rs1012161488	322	G>R		No	ClinGen Ensembl
rs776244453	323	E>K		No	ExAC TOPMed gnomAD
CA9421549 rs776244453	323	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1281019237 CA405728514	324	C>S		No	ClinGen gnomAD
rs1281019237	324	C>S		No	gnomAD
rs192567608 CA405728508	324	C>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs192567608	324	C>W		No	1000Genomes ExAC TOPMed gnomAD
rs1289386259 CA405728503	325	D>G		No	ClinGen gnomAD
rs1289386259	325	D>G		No	gnomAD
CA9421547 rs760353657	325	D>N		No	ClinGen ExAC gnomAD
rs760353657	325	D>N		No	ExAC gnomAD
rs760353657	325	D>Y		No	ExAC gnomAD
CA405728505 rs760353657	325	D>Y		No	ClinGen ExAC gnomAD
rs772799607 CA9421546	326	Q>R		No	ClinGen ExAC gnomAD
rs772799607	326	Q>R		No	ExAC gnomAD
CA405728492 rs1353299956	327	G>S		No	ClinGen TOPMed gnomAD
rs1353299956	327	G>S		No	TOPMed gnomAD
rs1415160764	328	C>Y		No	gnomAD
CA405728483 rs1415160764	328	C>Y		No	ClinGen gnomAD
CA9421544 rs747869457	329	L>P		No	ClinGen ExAC gnomAD
rs747869457	329	L>P		No	ExAC gnomAD
rs768531597 CA9421542	330	A>D		No	ClinGen ExAC
rs768531597	330	A>D		No	ExAC
CA405728463 rs1412364553	332	A>T		No	ClinGen gnomAD
rs1412364553	332	A>T		No	gnomAD
rs1239181675	335	L>F		No	gnomAD
rs1239181675 CA405728441	335	L>F		No	ClinGen gnomAD
rs1231558621	336	G>E		No	TOPMed
CA405728434 rs1231558621	336	G>E		No	ClinGen TOPMed
CA405728436 rs1386210629	336	G>R		No	ClinGen Ensembl
rs1386210629	336	G>R		No	Ensembl
CA9421541 rs749250869	337	W>C		No	ClinGen ExAC gnomAD
rs749250869	337	W>C		No	ExAC gnomAD
rs779911693 CA9421522	340	E>*		No	ClinGen ExAC gnomAD
rs779911693	340	E>*		No	ExAC gnomAD
CA9421521 rs769910772	340	E>V		No	ClinGen ExAC gnomAD
rs769910772	340	E>V		No	ExAC gnomAD
CA405728386 rs1294098915	342	E>K		No	ClinGen TOPMed
rs1294098915	342	E>K		No	TOPMed
rs757518230	343	D>E		No	ExAC TOPMed gnomAD
rs757518230 CA9421518	343	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1208488672 CA405728378	343	D>N		No	ClinGen gnomAD
rs1208488672	343	D>N		No	gnomAD
CA9421517 RCV000884149 rs147134890	344	L>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs147134890	344	L>I		No	1000Genomes ESP ExAC TOPMed gnomAD
rs778261733	344	L>P		No	ExAC gnomAD
rs778261733 CA9421516	344	L>P		No	ClinGen ExAC gnomAD
rs202130999	345	V>F		No	Ensembl
rs202130999 CA308151198	345	V>F		No	ClinGen Ensembl
rs201687831 CA9421512	346	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201687831	346	R>P		No	1000Genomes ExAC TOPMed gnomAD
CA9421511 rs201687831	346	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201687831	346	R>Q		No	1000Genomes ExAC TOPMed gnomAD
CA9421513 rs199855116 COSM1481025	346	R>W	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs199855116	346	R>W		No	ExAC TOPMed gnomAD
rs944648312	347	R>K		No	TOPMed gnomAD
CA308151194 rs944648312	347	R>K		No	ClinGen TOPMed gnomAD
rs1489259283 CA405728355	347	R>S		No	ClinGen gnomAD
rs1489259283	347	R>S		No	gnomAD
rs200811137	350	A>S		No	1000Genomes ExAC TOPMed gnomAD
rs200811137 CA405728337	350	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200811137	350	A>T		No	1000Genomes ExAC TOPMed gnomAD
CA9421510 rs200811137	350	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs969161300	351	S>G		No	gnomAD
CA308151190 rs969161300	351	S>G		No	ClinGen gnomAD
rs1352190697	351	S>N		No	gnomAD
CA405728331 rs1352190697	351	S>N		No	ClinGen gnomAD
CA9421509 rs200229086	352	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200229086	352	I>T		No	1000Genomes ExAC TOPMed gnomAD
rs140902316	356	S>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs140902316 CA9421508	356	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762799591 CA9421506	357	G>E		No	ClinGen ExAC gnomAD
rs762799591	357	G>E		No	ExAC gnomAD
rs200516283	358	A>G		No	ExAC TOPMed gnomAD
CA9421504 rs200516283	358	A>G		No	ClinGen ExAC TOPMed gnomAD
rs200516283	358	A>V		No	ExAC TOPMed gnomAD
rs200516283 CA9421505	358	A>V		No	ClinGen ExAC TOPMed gnomAD
rs745853916	360	V>F		No	ExAC gnomAD
CA9421501 rs745853916	360	V>F		No	ClinGen ExAC gnomAD
rs761994021	360	V>G		No	ExAC gnomAD
CA9421500 rs761994021	360	V>G		No	ClinGen ExAC gnomAD
CA405728248 rs1320069122	362	N>K		No	ClinGen TOPMed
rs1320069122	362	N>K		No	TOPMed
CA308151180 rs201596027	363	P>R		No	ClinGen gnomAD
rs201596027	363	P>R		No	gnomAD
rs747221275	364	S>G		No	ExAC gnomAD
rs747221275 CA9421498	364	S>G		No	ClinGen ExAC gnomAD
rs1309839331	364	S>N		No	gnomAD
CA405728234 rs1309839331	364	S>N		No	ClinGen gnomAD
CA405728224 rs1429820547	365	T>I		No	ClinGen gnomAD
rs1429820547	365	T>I		No	gnomAD
CA9421497 rs778208745	366	S>*		No	ClinGen ExAC TOPMed gnomAD
CA405728217 rs778208745	366	S>*		No	ClinGen ExAC TOPMed gnomAD
rs778208745	366	S>*		No	ExAC TOPMed gnomAD
rs778208745	366	S>*		No	ExAC TOPMed gnomAD
rs778208745	366	S>L		No	ExAC TOPMed gnomAD
rs778208745 CA405728216	366	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1167720468	368	S>F		No	TOPMed gnomAD
CA405728198 rs1167720468	368	S>F		No	ClinGen TOPMed gnomAD
CA9421496 rs758700236	369	P>S		No	ClinGen ExAC gnomAD
rs758700236	369	P>S		No	ExAC gnomAD
rs1200341993 CA405728180	370	K>N		No	ClinGen TOPMed
rs1200341993	370	K>N		No	TOPMed
rs748401916	370	K>R		No	ExAC gnomAD
CA9421495 rs748401916	370	K>R		No	ClinGen ExAC gnomAD
rs1490301559	372	S>F		No	gnomAD
CA405728165 rs1490301559	372	S>F		No	ClinGen gnomAD
rs1600101770 CA405728169	372	S>P		No	ClinGen Ensembl
rs1600101770	372	S>P		No	Ensembl
rs113734329 CA9421494	373	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs113734329	373	P>L		No	ESP ExAC TOPMed gnomAD
rs1250784750 CA405728149	374	P>L		No	ClinGen TOPMed gnomAD
rs1250784750	374	P>L		No	TOPMed gnomAD
rs1250784750	374	P>Q		No	TOPMed gnomAD
CA405728151 rs1250784750	374	P>Q		No	ClinGen TOPMed gnomAD
rs1481255336	374	P>T		No	gnomAD
CA405728154 rs1481255336	374	P>T		No	ClinGen gnomAD
CA405728143 rs1600101712	375	P>S		No	ClinGen Ensembl
rs1600101712	375	P>S		No	Ensembl
rs200296263	378	D>E		No	ESP ExAC TOPMed gnomAD
CA405728112 rs200296263	378	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs201335739 CA308151172	378	D>N		No	ClinGen Ensembl
rs201335739	378	D>N		No	Ensembl
rs756815336	379	E>G		No	ExAC gnomAD
CA9421490 rs756815336	379	E>G		No	ClinGen ExAC gnomAD
CA9421491 rs202127838	379	E>K		No	ClinGen ExAC TOPMed gnomAD
rs202127838	379	E>K		No	ExAC TOPMed gnomAD
rs751205777 CA9421489	380	A>S		No	ClinGen ExAC gnomAD
rs751205777	380	A>S		No	ExAC gnomAD
rs1374162204 CA405728075	383	T>R		No	ClinGen TOPMed
rs1374162204	383	T>R		No	TOPMed
CA9421487 rs763666706	386	E>V		No	ClinGen ExAC gnomAD
rs763666706	386	E>V		No	ExAC gnomAD

No associated diseases with Q8IXJ6

1 regional properties for Q8IXJ6

Type	Name	Position	InterPro Accession
domain	Sirtuin family, catalytic core domain	57 - 338	IPR026590

Functions

		Description
EC Number	2.3.1.286	Transferring groups other than amino-acyl groups
Subcellular Localization	Nucleus Cytoplasm, perinuclear region Cytoplasm Cytoplasm, cytoskeleton Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole Cytoplasm, cytoskeleton, spindle Midbody Chromosome Perikaryon Cell projection Cell projection, growth cone Myelin membrane	Localizes in the cytoplasm during most of the cell cycle except in the G2/M transition and during mitosis, where it is localized in association with chromatin and induces deacetylation of histone at 'Lys-16' (H4K16ac) (PubMed:17726514, PubMed:23468428) Colocalizes with KMT5A at mitotic foci (PubMed:23468428) Colocalizes with CDK1 at centrosome during prophase and splindle fibers during metaphase (PubMed:17488717) Colocalizes with Aurora kinase AURKA at centrosome during early prophase and in the centrioles and growing mitotic spindle throughout metaphase (PubMed:17488717) Colocalizes with Aurora kinase AURKB during cytokinesis with the midbody (PubMed:17488717) Colocalizes with microtubules (PubMed:12620231) Detected in perinuclear foci that may be aggresomes containing misfolded, ubiquitinated proteins (By similarity) Shuttles between the cytoplasm and the nucleus through the CRM1 export pathway (PubMed:17726514) Colocalizes with EP300 in the nucleus (PubMed:24177535) Translocates to the nucleus and chromatin upon bacterium Listeria monocytogenes infection in interphase cells (PubMed:23908241) Deacetylates FOXO3 in the cytoplasm (By similarity) Colocalizes with PLP1 in internodal regions, at paranodal axoglial junction and Schmidt-Lanterman incisures of myelin sheath (By similarity) Colocalizes with CDK5R1 in the perikaryon, neurites and growth cone of hippocampal neurons (By similarity) Colocalizes with alpha-tubulin in neuronal growth cone (By similarity) Localizes in the cytoplasm and nucleus of germinal vesicle (GV) stage oocytes (By similarity) Colocalizes with alpha-tubulin on the meiotic spindle as the oocytes enter into metaphase, and also during meiotic anaphase and telophase, especially with the midbody (By similarity) Colocalizes with PARD3 in internodal region of axons (By similarity) Colocalizes with acetylated alpha-tubulin in cell projection processes during primary oligodendrocyte precursor (OLP) differentiation (By similarity)
PANTHER Family	PTHR11085	NAD-DEPENDENT PROTEIN DEACYLASE SIRTUIN-5, MITOCHONDRIAL-RELATED
PANTHER Subfamily	PTHR11085:SF10	NAD-DEPENDENT PROTEIN DEACETYLASE SIRTUIN-2
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

27 GO annotations of cellular component

Name	Definition
centriole	A cellular organelle, found close to the nucleus in many eukaryotic cells, consisting of a small cylinder with microtubular walls, 300-500 nm long and 150-250 nm in diameter. It contains nine short, parallel, peripheral microtubular fibrils, each fibril consisting of one complete microtubule fused to two incomplete microtubules. Cells usually have two centrioles, lying at right angles to each other. At division, each pair of centrioles generates another pair and the twin pairs form the pole of the mitotic spindle.
centrosome	A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle.
chromatin silencing complex	Any protein complex that mediates changes in chromatin structure that result in transcriptional silencing.
chromosome	A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information.
chromosome, telomeric region	The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres).
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
glial cell projection	A prolongation or process extending from a glial cell.
growth cone	The migrating motile tip of a growing neuron projection, where actin accumulates, and the actin cytoskeleton is the most dynamic.
heterochromatin	A compact and highly condensed form of chromatin that is refractory to transcription.
juxtaparanode region of axon	A region of an axon near a node of Ranvier that is between the paranode and internode regions.
lateral loop	Non-compact myelin located adjacent to the nodes of Ranvier in a myelin segment. These non-compact regions include cytoplasm from the cell responsible for synthesizing the myelin. Lateral loops are found in the paranodal region adjacent to the nodes of Ranvier, while Schmidt-Lantermann clefts are analogous structures found within the compact myelin internode.
meiotic spindle	A spindle that forms as part of meiosis. Several proteins, such as budding yeast Spo21p, fission yeast Spo2 and Spo13, and C. elegans mei-1, localize specifically to the meiotic spindle and are absent from the mitotic spindle.
microtubule	Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle.
midbody	A thin cytoplasmic bridge formed between daughter cells at the end of cytokinesis. The midbody forms where the contractile ring constricts, and may persist for some time before finally breaking to complete cytokinesis.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
mitotic spindle	A spindle that forms as part of mitosis. Mitotic and meiotic spindles contain distinctive complements of proteins associated with microtubules.
myelin sheath	An electrically insulating fatty layer that surrounds the axons of many neurons. It is an outgrowth of glial cells: Schwann cells supply the myelin for peripheral neurons while oligodendrocytes supply it to those of the central nervous system.
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
paranodal junction	A highly specialized cell-cell junction found in vertebrates, which forms between a neuron and a glial cell, and has structural similarity to Drosophila septate junctions. It flanks the node of Ranvier in myelinated nerve and electrically isolates the myelinated from unmyelinated nerve segments and physically separates the voltage-gated sodium channels at the node from the cluster of potassium channels underneath the myelin sheath.
paranode region of axon	An axon part that is located adjacent to the nodes of Ranvier and surrounded by lateral loop portions of myelin sheath.
perikaryon	The portion of the cell soma (neuronal cell body) that excludes the nucleus.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
Schmidt-Lanterman incisure	Regions within compact myelin in which the cytoplasmic faces of the enveloping myelin sheath are not tightly juxtaposed, and include cytoplasm from the cell responsible for making the myelin. Schmidt-Lanterman incisures occur in the compact myelin internode, while lateral loops are analogous structures found in the paranodal region adjacent to the nodes of Ranvier.
spindle	The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart.

14 GO annotations of molecular function

Name	Definition
chromatin binding	Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
DNA-binding transcription factor binding	Binding to a DNA-binding transcription factor, a protein that interacts with a specific DNA sequence (sometimes referred to as a motif) within the regulatory region of a gene to modulate transcription.
histone acetyltransferase binding	Binding to an histone acetyltransferase.
histone deacetylase activity	Catalysis of the reaction: histone N6-acetyl-L-lysine + H2O = histone L-lysine + acetate. This reaction represents the removal of an acetyl group from a histone, a class of proteins complexed to DNA in chromatin and chromosomes.
histone deacetylase binding	Binding to histone deacetylase.
NAD+ ADP-ribosyltransferase activity	Catalysis of the reaction: NAD+ + (ADP-D-ribosyl)(n)-acceptor = nicotinamide + (ADP-D-ribosyl)(n+1)-acceptor.
NAD+ binding	Binding to the oxidized form, NAD, of nicotinamide adenine dinucleotide, a coenzyme involved in many redox and biosynthetic reactions.
NAD-dependent histone deacetylase activity	Catalysis of the reaction: histone N6-acetyl-L-lysine + H2O = histone L-lysine + acetate. This reaction requires the presence of NAD, and represents the removal of an acetyl group from a histone.
NAD-dependent histone deacetylase activity (H4-K16 specific)	Catalysis of the reaction: histone H4 N6-acetyl-L-lysine (position 16) + H2O = histone H4 L-lysine (position 16) + acetate. This reaction requires the presence of NAD, and represents the removal of an acetyl group from lysine at position 16 of the histone H4 protein.
NAD-dependent protein deacetylase activity	Catalysis of the removal of one or more acetyl groups from a protein, requiring NAD.
protein deacetylase activity	Catalysis of the reaction: H2O + N6-acetyl-L-lysyl-
tubulin deacetylase activity	Catalysis of the reaction: N-acetyl(alpha-tubulin) + H2O = alpha-tubulin + acetate.
ubiquitin binding	Binding to ubiquitin, a protein that when covalently bound to other cellular proteins marks them for proteolytic degradation.
zinc ion binding	Binding to a zinc ion (Zn).

55 GO annotations of biological process

Name	Definition
autophagy	The cellular catabolic process in which cells digest parts of their own cytoplasm; allows for both recycling of macromolecular constituents under conditions of cellular stress and remodeling the intracellular structure for cell differentiation.
cell division	The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells.
cellular lipid catabolic process	The chemical reactions and pathways resulting in the breakdown of lipids, as carried out by individual cells.
cellular response to caloric restriction	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a of caloric restriction, insufficient food energy intake.
cellular response to epinephrine stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an epinephrine stimulus. Epinephrine is a catecholamine that has the formula C9H13NO3; it is secreted by the adrenal medulla to act as a hormone, and released by certain neurons to act as a neurotransmitter active in the central nervous system.
cellular response to hepatocyte growth factor stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hepatocyte growth factor stimulus.
cellular response to hypoxia	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level.
cellular response to molecule of bacterial origin	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus by molecules of bacterial origin such as peptides derived from bacterial flagellin.
cellular response to oxidative stress	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals.
hepatocyte growth factor receptor signaling pathway	The series of molecular signals initiated by a ligand binding to a hepatocyte growth factor receptor, and ending with the regulation of a downstream cellular process, e.g. transcription.
heterochromatin assembly	An epigenetic gene silencing mechanism in which chromatin is compacted into heterochromatin, resulting in a chromatin conformation refractory to transcription. This process starts with heterochromatin nucleation, its spreading, and ends with heterochromatin boundary formation.
histone deacetylation	The modification of histones by removal of acetyl groups.
histone H3 deacetylation	The modification of histone H3 by the removal of one or more acetyl groups.
histone H4 deacetylation	The modification of histone H4 by the removal of one or more acetyl groups.
innate immune response	Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
meiotic cell cycle	Progression through the phases of the meiotic cell cycle, in which canonically a cell replicates to produce four offspring with half the chromosomal content of the progenitor cell via two nuclear divisions.
mitotic nuclear membrane reassembly	The mitotic cell cycle process involving ESCRTIII that results in reformation of the nuclear envelope after mitotic nuclear division. In organisms undergoing closed mitosis this involves resealing or 'repair' of the nuclear envelope in the nuclear bridge.
myelination in peripheral nervous system	The process in which neuronal axons and dendrites become coated with a segmented lipid-rich sheath (myelin) to enable faster and more energetically efficient conduction of electrical impulses. The sheath is formed by the cell membranes of Schwann cells in the peripheral nervous system. Adjacent myelin segments are separated by a non-myelinated stretch of axon called a node of Ranvier.
negative regulation of autophagy	Any process that stops, prevents, or reduces the frequency, rate or extent of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm.
negative regulation of cell population proliferation	Any process that stops, prevents or reduces the rate or extent of cell proliferation.
negative regulation of defense response to bacterium	Any process that stops, prevents or reduces the frequency, rate or extent of defense response to bacterium.
negative regulation of fat cell differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of adipocyte differentiation.
negative regulation of NLRP3 inflammasome complex assembly	Any process that stops, prevents or reduces the frequency, rate or extent of NLRP3 inflammasome complex assembly.
negative regulation of oligodendrocyte progenitor proliferation	Any process that stops or decreases the rate or extent of oligodendrocyte progenitor proliferation.
negative regulation of peptidyl-threonine phosphorylation	Any process that decreases the frequency, rate or extent of peptidyl-threonine phosphorylation. Peptidyl-threonine phosphorylation is the phosphorylation of peptidyl-threonine to form peptidyl-O-phospho-L-threonine.
negative regulation of protein catabolic process	Any process that stops, prevents or reduces the frequency, rate or extent of protein catabolic process.
negative regulation of reactive oxygen species metabolic process	Any process that stops, prevents or reduces the frequency, rate or extent of reactive oxygen species metabolic process.
negative regulation of striated muscle tissue development	Any process that stops, prevents, or reduces the frequency, rate or extent of striated muscle development.
negative regulation of transcription by RNA polymerase II	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
negative regulation of transcription from RNA polymerase II promoter in response to hypoxia	Any process that decreases the frequency, rate or extent of transcription from an RNA polymerase II promoter as a result of a hypoxia stimulus.
negative regulation of transcription, DNA-templated	Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
peptidyl-lysine deacetylation	The removal of an acetyl group from an acetylated lysine residue in a peptide or protein.
phosphatidylinositol 3-kinase signaling	A series of reactions within the signal-receiving cell, mediated by the intracellular phosphatidylinositol 3-kinase (PI3K). Many cell surface receptor linked signaling pathways signal through PI3K to regulate numerous cellular functions.
positive regulation of attachment of spindle microtubules to kinetochore	Any process that activates or increases the frequency, rate or extent of the attachment of spindle microtubules to the kinetochore.
positive regulation of cell division	Any process that activates or increases the frequency, rate or extent of cell division.
positive regulation of DNA binding	Any process that increases the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid).
positive regulation of execution phase of apoptosis	Any process that activates or increases the frequency, rate or extent of execution phase of apoptosis.
positive regulation of meiotic nuclear division	Any process that activates or increases the frequency, rate or extent of meiosis.
positive regulation of oocyte maturation	Any process that activates or increases the frequency, rate or extent of oocyte maturation.
positive regulation of proteasomal ubiquitin-dependent protein catabolic process	Any process that activates or increases the frequency, rate or extent of the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome.
positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia	Any positive regulation of proteasomal ubiquitin-dependent protein catabolic process that is involved in a cellular response to hypoxia.
positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
proteasome-mediated ubiquitin-dependent protein catabolic process	The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome.
protein ADP-ribosylation	The transfer, from NAD, of ADP-ribose to protein amino acids.
protein deacetylation	The removal of an acetyl group from a protein amino acid. An acetyl group is CH3CO-, derived from acetic
protein kinase B signaling	A series of reactions, mediated by the intracellular serine/threonine kinase protein kinase B (also called AKT), which occurs as a result of a single trigger reaction or compound.
rDNA heterochromatin assembly	The formation of heterochromatin at ribosomal DNA, characterized by the modified histone H3K9me3.
regulation of cell cycle	Any process that modulates the rate or extent of progression through the cell cycle.
regulation of exit from mitosis	Any process involved in the progression from anaphase/telophase to G1 that is associated with a conversion from high to low mitotic CDK activity.
regulation of myelination	Any process that modulates the frequency, rate or extent of the formation of a myelin sheath around nerve axons.
regulation of phosphorylation	Any process that modulates the frequency, rate or extent of addition of phosphate groups into a molecule.
response to redox state	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating redox state. Redox state refers to the balance of oxidized versus reduced forms of electron donors and acceptors in an organelle, cell or organ; plastoquinone, glutathione (GSH/GSSG), and nicotinamide nucleotides (NAD+/NADH and NADP+/NADPH) are among the most important.
substantia nigra development	The progression of the substantia nigra over time from its initial formation until its mature state. The substantia nigra is the layer of gray substance that separates the posterior parts of the cerebral peduncles (tegmentum mesencephali) from the anterior parts; it normally includes a posterior compact part with many pigmented cells (pars compacta) and an anterior reticular part whose cells contain little pigment (pars reticularis).
subtelomeric heterochromatin assembly	The compaction of chromatin into heterochromatin at the subtelomeric region.
tubulin deacetylation	The removal of an acetyl group from tubulin. An acetyl group is CH3CO-, derived from acetic

9 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P53686	HST2	NAD-dependent protein deacetylase HST2	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	SS
Q9I7I7	Sirt2	NAD-dependent protein deacetylase Sirt2	Drosophila melanogaster (Fruit fly)	SS
Q96EB6	SIRT1	NAD-dependent protein deacetylase sirtuin-1	Homo sapiens (Human)	PR
Q8N6T7	SIRT6	NAD-dependent protein deacylase sirtuin-6	Homo sapiens (Human)	PR
Q9NTG7	SIRT3	NAD-dependent protein deacetylase sirtuin-3, mitochondrial	Homo sapiens (Human)	SS
Q8R104	Sirt3	NAD-dependent protein deacetylase sirtuin-3	Mus musculus (Mouse)	SS
Q8VDQ8	Sirt2	NAD-dependent protein deacetylase sirtuin-2	Mus musculus (Mouse)	SS
Q5RJQ4	Sirt2	NAD-dependent protein deacetylase sirtuin-2	Rattus norvegicus (Rat)	PR
Q7ZVK3	sirt2	NAD-dependent protein deacetylase sirtuin-2	Danio rerio (Zebrafish) (Brachydanio rerio)	SS

10	20	30	40	50	60
MAEPDPSHPL	ETQAGKVQEA	QDSDSDSEGG	AAGGEADMDF	LRNLFSQTLS	LGSQKERLLD
70	80	90	100	110	120
ELTLEGVARY	MQSERCRRVI	CLVGAGISTS	AGIPDFRSPS	TGLYDNLEKY	HLPYPEAIFE
130	140	150	160	170	180
ISYFKKHPEP	FFALAKELYP	GQFKPTICHY	FMRLLKDKGL	LLRCYTQNID	TLERIAGLEQ
190	200	210	220	230	240
EDLVEAHGTF	YTSHCVSASC	RHEYPLSWMK	EKIFSEVTPK	CEDCQSLVKP	DIVFFGESLP
250	260	270	280	290	300
ARFFSCMQSD	FLKVDLLLVM	GTSLQVQPFA	SLISKAPLST	PRLLINKEKA	GQSDPFLGMI
310	320	330	340	350	360
MGLGGGMDFD	SKKAYRDVAW	LGECDQGCLA	LAELLGWKKE	LEDLVRREHA	SIDAQSGAGV
370	380
PNPSTSASPK	KSPPPAKDEA	RTTEREKPQ