AiPD: Autoinhibited Protein Database

Q9Y2U5

Gene name	MAP3K2 (MAPKKK2, MEKK2)
Protein name	Mitogen-activated protein kinase kinase kinase 2
Names	MAPK/ERK kinase kinase 2, MEK kinase 2, MEKK 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10746
EC number	2.7.11.25: Protein-serine/threonine kinases
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

1-95 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-95 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

500-526 (Activation loop from InterPro)

Target domain	356-616 (Protein kinase domain)
Relief mechanism
Assay

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

9 structures for Q9Y2U5

Entry ID	Method	Resolution	Chain	Position	Source
2CU1	NMR	-	A	43-132	PDB
2NPT	X-ray	175 A	B/D	26-123	PDB
5EX0	X-ray	270 A	D	256-265	PDB
5HQ8	X-ray	172 A	I/J	250-264	PDB
6LDV	X-ray	190 A	P	252-265	PDB
6LDW	X-ray	160 A	C/D	252-265	PDB
6LDX	X-ray	180 A	B	252-265	PDB
6LDY	X-ray	177 A	C/M	252-265	PDB
AF-Q9Y2U5-F1	Predicted				AlphaFoldDB

379 variants for Q9Y2U5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA1859157 rs199553077	2	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA348389328 rs199553077	2	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1371842082 CA348389035	3	D>Y		No	ClinGen gnomAD
CA348389005 rs1573991845	5	Q>E		No	ClinGen Ensembl
rs1442308148 CA348388965	10	I>V		No	ClinGen gnomAD
rs1029528656 CA55325053	11	M>V		No	ClinGen Ensembl
CA1859143 rs532086211	15	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs765886710 CA1859142	18	H>R		No	ClinGen ExAC gnomAD
rs762320538 CA1859141	19	K>N		No	ClinGen ExAC gnomAD
rs1417182371 CA348388840	22	R>G		No	ClinGen TOPMed gnomAD
CA1859140 rs772948833	22	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1026983919 CA55325038	26	S>Y		No	ClinGen TOPMed
CA348388773 rs1470548700	27	L>F		No	ClinGen gnomAD
TCGA novel	31	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1201980025 CA348388668	35	S>T		No	ClinGen gnomAD
CA348388655 rs1461066116	36	S>L		No	ClinGen gnomAD
CA348388628 rs1310683125	38	P>A		No	ClinGen gnomAD
CA1859136 rs772563069	38	P>L		No	ClinGen ExAC gnomAD
TCGA novel	39	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1859134 rs774945204	40	K>N		No	ClinGen ExAC gnomAD
TCGA novel	41	Q>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1480245094 CA348388258	42	N>K		No	ClinGen TOPMed
rs1260556604 CA348388256	43	D>N		No	ClinGen gnomAD
CA1859127 rs371455925	44	V>I		No	ClinGen ExAC TOPMed gnomAD
CA55324226 rs376419068	45	R>L		No	ClinGen ESP TOPMed gnomAD
CA55324227 rs376419068	45	R>Q		No	ClinGen ESP TOPMed gnomAD
rs1415534437 CA348388240	46	V>L		No	ClinGen TOPMed
CA348388231 rs1244617290	47	K>R		No	ClinGen gnomAD
rs1359624460 CA348388223	48	F>Y		No	ClinGen gnomAD
CA348388210 rs1314424365	50	H>N		No	ClinGen gnomAD
CA348388204 rs1380225165	50	H>Q		No	ClinGen gnomAD
rs957848163 CA55324225	51	R>K		No	ClinGen TOPMed gnomAD
CA348388193 rs1432755749	52	G>E		No	ClinGen gnomAD
rs1289267092 CA348388196	52	G>R		No	ClinGen gnomAD
TCGA novel	53	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348388189 rs1363656802	53	E>K		No	ClinGen gnomAD
rs1573990434 CA348388156	55	R>S		No	ClinGen Ensembl
rs1482295655 CA348388150	56	I>M		No	ClinGen TOPMed gnomAD
CA1859120 rs758325538	56	I>T		No	ClinGen ExAC gnomAD
CA55322975 rs868715355	60	P>H		No	ClinGen gnomAD
rs868715355 CA348388123	60	P>L		No	ClinGen gnomAD
rs1220242991 CA348388122	61	R>G		No	ClinGen gnomAD
CA55322972 rs925943750	61	R>I		No	ClinGen Ensembl
CA348388115 rs1166509000	62	P>A		No	ClinGen TOPMed
rs764792583 CA1859118	62	P>R		No	ClinGen ExAC gnomAD
CA348388111 rs1302459054	63	V>I		No	ClinGen gnomAD
CA348388086 rs1462725615	66	E>D		No	ClinGen TOPMed
CA1859117 rs372909032	66	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA1859116 rs753477558	67	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs180887005 CA55322947	68	L>V		No	ClinGen 1000Genomes
rs1295394240 CA348388071	69	R>K		No	ClinGen gnomAD
rs200351525 CA1859115 CA348388069	69	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs759935060 CA1859114	70	S>F		No	ClinGen ExAC gnomAD
rs966187323 CA55322936	75	A>D		No	ClinGen Ensembl
CA55322939 rs974548836	75	A>T		No	ClinGen Ensembl
rs1479004003 CA348388025	76	F>C		No	ClinGen gnomAD
COSM3797930 COSM3797929 rs771367904 CA1859112	80	M>V	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1268786067 CA348387982	82	L>Q		No	ClinGen gnomAD
CA348387977 rs1251528342	83	H>R		No	ClinGen gnomAD
rs1480070372 CA348387979	83	H>Y		No	ClinGen gnomAD
CA1859111 rs763463517	84	Y>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	84	Y>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1321124450 CA348387961	85	T>I		No	ClinGen TOPMed gnomAD
CA348387962 rs1321124450	85	T>S		No	ClinGen TOPMed gnomAD
rs1224000353 CA348387943	88	E>K		No	ClinGen gnomAD
CA348387682 rs1421137890	90	V>I		No	ClinGen gnomAD
rs750306073 CA1859099 COSM3743996 COSM3743997	91	I>V	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs778350898 CA1859098	92	P>L		No	ClinGen ExAC gnomAD
rs1335221426 CA348387669	92	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1380877442 CA348387654	94	T>S		No	ClinGen gnomAD
CA55320248 rs969273316	95	T>A		No	ClinGen Ensembl
TCGA novel	95	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA55320247 rs779010760	97	D>G		No	ClinGen Ensembl
CA348387632 rs1336414580	98	D>N		No	ClinGen gnomAD
rs1415402277 CA348387629	98	D>V		No	ClinGen gnomAD
rs1315744467 CA348387605	101	K>R		No	ClinGen TOPMed
rs1404878213 CA348387593	103	V>L		No	ClinGen gnomAD
CA348387573 rs1453726550	106	L>P		No	ClinGen gnomAD
CA348387570 rs1380337103	107	D>H		No	ClinGen TOPMed gnomAD
CA348387561 rs1179996329	108	R>C		No	ClinGen gnomAD
CA348387562 rs1179996329	108	R>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1859096 rs753590225	108	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1859095 rs763804252	109	S>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	110	I>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1859094 rs55767983 VAR_040682	110	I>V		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
VAR_040683	112	M>I	a lung large cell carcinoma sample; somatic mutation [UniProt]	No	UniProt
CA348387537 rs751886684	112	M>L		No	ClinGen ExAC TOPMed gnomAD
CA1859093 rs751886684	112	M>V		No	ClinGen ExAC TOPMed gnomAD
CA1859092 rs766702550	114	S>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	117	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs569233412 CA1859090	119	L>R		No	ClinGen 1000Genomes ExAC gnomAD
CA348387485 rs1418048197	119	L>V		No	ClinGen TOPMed
CA55320211 rs1033327827	122	N>D		No	ClinGen TOPMed
CA348387459 rs1242416359	123	G>R		No	ClinGen TOPMed gnomAD
CA348387451 rs1255554461	124	S>T		No	ClinGen gnomAD
CA1859089 rs765283417	125	T>I		No	ClinGen ExAC TOPMed gnomAD
rs762258910 CA1859070	129	N>S		No	ClinGen ExAC TOPMed gnomAD
CA1859069 rs776705567	130	L>I		No	ClinGen ExAC TOPMed gnomAD
rs764093683 CA1859068	131	E>K		No	ClinGen ExAC TOPMed gnomAD
rs775766271 CA1859067	132	P>S		No	ClinGen ExAC TOPMed gnomAD
rs775766271 CA1859066	132	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1573987256 CA348387284	136	L>P		No	ClinGen Ensembl
rs771009335 CA1859062	137	E>Q		No	ClinGen ExAC gnomAD
rs1246152503 CA348387258	138	D>G		No	ClinGen gnomAD
COSM3425164 COSM3425165 rs1283539905 CA348387262	138	D>Y	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
TCGA novel	139	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs56307783 CA1859061 VAR_040684	140	D>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs374619842 CA55319966	140	D>Y		No	ClinGen Ensembl
CA348387218 rs1453476265	141	N>S		No	ClinGen TOPMed gnomAD
CA348387220 rs1453476265	141	N>T		No	ClinGen TOPMed gnomAD
CA348387209 rs1314625787	142	T>A		No	ClinGen Ensembl
rs777496002 CA1859060	142	T>R		No	ClinGen ExAC
rs755674601 CA1859059	146	A>P		No	ClinGen ExAC gnomAD
CA348387160 rs755674601	146	A>T		No	ClinGen ExAC gnomAD
rs747806553 CA1859058	148	R>S		No	ClinGen ExAC
TCGA novel	150	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348387088 rs1280534973	151	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA348387092 rs1319009086	151	R>W		No	ClinGen TOPMed gnomAD
CA1859057 rs780868604	152	L>V		No	ClinGen ExAC TOPMed gnomAD
CA1859055 rs560246081	153	S>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA348387066 rs560246081	153	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1473188519 CA348387071	153	S>P		No	ClinGen TOPMed
CA1859052 rs376339138	154	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs765526805 CA1859054	154	I>V		No	ClinGen ExAC gnomAD
CA1859051 rs764214746	155	I>T		No	ClinGen ExAC gnomAD
rs200095663 CA55372959	156	G>D		No	ClinGen gnomAD
TCGA novel	156	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1859033 rs756535314	157	P>R		No	ClinGen ExAC gnomAD
rs778219189 CA55372954	157	P>S		No	ClinGen ExAC gnomAD
CA1859034 rs778219189	157	P>T		No	ClinGen ExAC gnomAD
CA1859032 rs770849995	158	T>A		No	ClinGen ExAC gnomAD
CA55372919 rs1044352881	159	S>N		No	ClinGen TOPMed
rs767432874 CA1859031	160	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs191720020 CA348395739	161	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA348395732 rs1240265221	162	R>S		No	ClinGen gnomAD
rs751821092 CA1859029	163	S>C		No	ClinGen ExAC TOPMed gnomAD
rs766327990 CA1859028	163	S>R		No	ClinGen ExAC gnomAD
CA1859024 rs773103186	170	I>V		No	ClinGen ExAC gnomAD
CA1859023 rs769794261	176	Q>H		No	ClinGen ExAC gnomAD
CA1859022 rs761598827	178	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1240249042 CA348395625	179	R>G		No	ClinGen gnomAD
rs776209841 CA1859021	179	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1859020 rs371274698	180	N>S		No	ClinGen ESP ExAC gnomAD
rs779656753 CA1859018	184	T>A		No	ClinGen ExAC gnomAD
rs200531096 CA1859017	186	I>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA348395575 rs1428489257	187	N>D		No	ClinGen gnomAD
CA1859016 rs749681543	197	M>V		No	ClinGen ExAC TOPMed gnomAD
CA348395455 rs1186261323	201	L>V		No	ClinGen TOPMed
CA1859007 rs766739878	202	D>Y		No	ClinGen ExAC gnomAD
CA55372367 rs267598860	203	P>L		No	ClinGen gnomAD
CA348395444 rs1339666601	203	P>S		No	ClinGen gnomAD
CA55372360 rs1036270189	208	S>G		No	ClinGen TOPMed
CA1859004 rs764874249	211	N>S		No	ClinGen ExAC gnomAD
CA348395378 rs1167257235	212	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA348395382 rs1350692612	212	S>P		No	ClinGen gnomAD
CA348395374 rs1163294919	213	G>D		No	ClinGen TOPMed
rs776418686 CA1859002	218	P>T		No	ClinGen ExAC gnomAD
CA348395322 rs1161278862	221	D>Y		No	ClinGen TOPMed
rs774990670 CA1858978	227	E>D		No	ClinGen ExAC gnomAD
rs1003987287 CA55371146	228	S>C		No	ClinGen TOPMed gnomAD
CA1858977 rs766942825	228	S>T		No	ClinGen ExAC TOPMed gnomAD
rs759247029 CA1858976	231	K>E		No	ClinGen ExAC TOPMed gnomAD
CA348395224 rs1303538210	232	S>L		No	ClinGen gnomAD
CA55371106 rs868314266	233	R>*		No	ClinGen Ensembl
rs1444773405 CA348395195	237	A>P		No	ClinGen gnomAD
CA55371093 rs758368791	238	Q>E		No	ClinGen Ensembl
rs867884450 CA55371087	239	S>I		No	ClinGen Ensembl
CA348395159 rs1332379931	242	D>G		No	ClinGen gnomAD
rs1421561805 CA348395154	243	N>D		No	ClinGen TOPMed gnomAD
CA348395148 rs1296710259	243	N>K		No	ClinGen TOPMed
rs1170322011 CA348395147	244	H>N		No	ClinGen TOPMed gnomAD
CA348395085 rs1406102923	250	Y>C		No	ClinGen TOPMed
rs1380434835 CA348395072	252	N>D		No	ClinGen gnomAD
CA1858957 rs767067310	253	P>L		No	ClinGen ExAC TOPMed gnomAD
CA348395054 rs1329308319	254	I>M		No	ClinGen TOPMed
CA55370932 rs371540524	257	K>R		No	ClinGen ESP TOPMed gnomAD
CA55370923 rs763501450	259	G>V		No	ClinGen Ensembl
rs1367622981 CA348395008	261	G>R		No	ClinGen gnomAD
CA348394996 rs1443997050	263	T>A		No	ClinGen gnomAD
CA348394995 rs1443997050	263	T>S		No	ClinGen gnomAD
rs367750923 CA1858955	264	Y>F		No	ClinGen ESP ExAC gnomAD
CA348394983 rs1370684315	265	P>A		No	ClinGen gnomAD
CA348394975 rs1558976737	266	R>T		No	ClinGen Ensembl
rs1286877623 CA348394969	267	R>K		No	ClinGen gnomAD
rs1354524938 CA348394954	269	H>Y		No	ClinGen gnomAD
CA55370852 rs925038306	270	V>I		No	ClinGen TOPMed gnomAD
rs762610000 CA1858953	271	S>L		No	ClinGen ExAC gnomAD
CA348394934 rs1276836218	272	Y>C		No	ClinGen gnomAD
TCGA novel	278	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1317446211 CA348394881	279	D>H		No	ClinGen TOPMed
CA348394774 rs1573982962	293	T>A		No	ClinGen Ensembl
CA1858934 rs762579708	295	L>F		No	ClinGen ExAC gnomAD
rs765850504 CA348394759	295	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA348394753 rs201583960	296	R>G		No	ClinGen 1000Genomes ExAC gnomAD
CA1858932 rs568286907	296	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs201583960 CA1858933	296	R>W		No	ClinGen 1000Genomes ExAC gnomAD
rs1477071083 CA348394750	297	S>T		No	ClinGen gnomAD
CA348394737 rs1199807479	299	V>L		No	ClinGen TOPMed gnomAD
rs1470012755 CA348394722	301	F>V		No	ClinGen gnomAD
CA348394706 rs1300746379	303	P>S		No	ClinGen TOPMed
rs192818915 CA1858928	304	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774297678 CA1858927	304	T>I		No	ClinGen ExAC gnomAD
rs192818915 CA1858929	304	T>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs749525172 CA1858925	305	D>N		No	ClinGen ExAC gnomAD
rs777944870 CA1858924	306	H>R		No	ClinGen ExAC gnomAD
CA1858923 rs769966551	308	L>F		No	ClinGen ExAC gnomAD
CA55369439 rs766483288	308	L>I		No	ClinGen Ensembl
CA55369438 rs766483288	308	L>V		No	ClinGen Ensembl
CA55369436 rs368071379	311	S>G		No	ClinGen ESP gnomAD
CA348394646 rs1438105067	313	G>R		No	ClinGen gnomAD
CA348394628 rs1337330862	315	S>N		No	ClinGen TOPMed
CA1858920 rs754877887	319	P>T		No	ClinGen ExAC gnomAD
rs746962281 CA1858919	320	E>Q		No	ClinGen ExAC gnomAD
CA1858918 rs375320804	321	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA1858917 rs757902465	325	R>Q		No	ClinGen ExAC gnomAD
CA1858916 rs750139943	326	I>V		No	ClinGen ExAC gnomAD
COSM1006198 CA1858915 rs765010648 COSM1006197	328	R>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA55369342 rs765010648	328	R>K		No	ClinGen ExAC TOPMed gnomAD
CA1858912 rs767922677	334	D>G		No	ClinGen ExAC gnomAD
rs1236571876 CA348394502	334	D>N		No	ClinGen gnomAD
CA55369317 rs370513516	335	N>S		No	ClinGen ESP gnomAD
CA348394483 rs1235000302	336	P>L		No	ClinGen gnomAD
CA348394469 rs1573982854	339	T>P		No	ClinGen Ensembl
COSM1399218 rs376189453 CA1858910 COSM1399217	340	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA1858907 rs773231459	341	M>R		No	ClinGen ExAC gnomAD
rs773231459 CA348394455	341	M>T		No	ClinGen ExAC gnomAD
rs1235848399 CA348394457	341	M>V		No	ClinGen TOPMed gnomAD
TCGA novel	344	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770019988 CA1858906	344	S>T		No	ClinGen ExAC gnomAD
rs776477330 CA1858904	345	P>L		No	ClinGen ExAC gnomAD
CA348394421 rs1359673864	346	P>H		No	ClinGen gnomAD
CA1858902 rs189516271	346	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA1858901 rs780009212	347	S>T		No	ClinGen ExAC gnomAD
CA1858900 rs758226854	348	R>C		No	ClinGen ExAC TOPMed gnomAD
CA1858884 rs746851344	349	S>L		No	ClinGen ExAC gnomAD
rs775098271 CA1858883	351	R>P		No	ClinGen ExAC
CA348394378 COSM1006193 rs775098271 COSM1006194	351	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC
CA348394373 rs1163021322	352	A>G		No	ClinGen gnomAD
CA348394372 rs1163021322	352	A>V		No	ClinGen gnomAD
rs1299732815 CA348394370	353	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1423577268 CA348394368	353	P>L		No	ClinGen TOPMed gnomAD
CA348394359 rs1190652266	355	N>D		No	ClinGen gnomAD
rs778629472 CA1858880	358	L>V		No	ClinGen ExAC gnomAD
CA55365749 rs891623589	360	K>R		No	ClinGen gnomAD
rs770549314 CA1858878	363	G>C		No	ClinGen ExAC gnomAD
rs1301484304 CA348394296	364	Q>R		No	ClinGen TOPMed
CA1858877 rs748995143	366	A>G		No	ClinGen ExAC TOPMed gnomAD
rs748995143 CA348394282	366	A>V		No	ClinGen ExAC TOPMed gnomAD
CA1858876 rs777516152	369	R>S		No	ClinGen ExAC gnomAD
rs755675994 CA1858875	370	V>I		No	ClinGen ExAC gnomAD
rs750916978 CA1858871	371	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1274847784 CA348394255	371	Y>H		No	ClinGen gnomAD
rs750916978 CA1858872	371	Y>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	374	Y>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1858870 rs765352195	375	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1382835976 CA348394226	375	D>V		No	ClinGen gnomAD
rs761851480 CA1858869	376	V>I		No	ClinGen ExAC TOPMed gnomAD
COSM203500 COSM1006192 CA55365655 rs776045361	381	E>*	large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs753820021 CA1858868	382	L>F		No	ClinGen ExAC TOPMed gnomAD
CA1858867 rs199572220	384	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs775359677 CA1858865	385	K>R		No	ClinGen ExAC gnomAD
rs1250712004 CA348394154	386	Q>R		No	ClinGen TOPMed
CA1858864 rs771756175	387	V>A		No	ClinGen ExAC gnomAD
rs373223980 CA1858860	392	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs373223980 CA1858861	392	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1858859 rs777093261	394	P>L		No	ClinGen ExAC TOPMed gnomAD
rs769174718 CA1858838	404	E>Q		No	ClinGen ExAC gnomAD
rs1238291940 CA348394009	405	C>Y		No	ClinGen TOPMed gnomAD
TCGA novel	407	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348393946 rs1393586813	413	L>F		No	ClinGen gnomAD
CA1858835 rs768259312	414	L>V		No	ClinGen ExAC gnomAD
CA1858834 rs746252979	415	H>P		No	ClinGen ExAC TOPMed gnomAD
CA348393938 rs746252979	415	H>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	417	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348393924 COSM1006190 rs1376790305 COSM1006191	417	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA55364925 rs141046690	420	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
rs1438720580 CA348393892	422	Y>H		No	ClinGen gnomAD
rs201462741 CA55364913	424	C>F		No	ClinGen gnomAD
TCGA novel	424	C>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348393874 rs1573980340	424	C>W		No	ClinGen Ensembl
CA348393866 rs1573980335	425	L>F		No	ClinGen Ensembl
rs1573980333 CA348393854	427	D>G		No	ClinGen Ensembl
CA348393845 rs1421908432	428	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1858829 rs756122439	429	Q>P		No	ClinGen ExAC gnomAD
rs753001092 CA1858828	430	E>K		No	ClinGen ExAC gnomAD
rs1331648587 CA348393824	431	K>N		No	ClinGen TOPMed
rs767879956 CA1858827	431	K>R		No	ClinGen ExAC gnomAD
rs1573980316 CA348393819	432	T>K		No	ClinGen Ensembl
rs1280436100 CA348393814	433	L>H		No	ClinGen gnomAD
CA348393813 rs1280436100	433	L>P		No	ClinGen gnomAD
rs369088747 CA55364800	434	S>A		No	ClinGen ESP TOPMed gnomAD
rs369088747 CA348393810	434	S>P		No	ClinGen ESP TOPMed gnomAD
CA1858824 rs766276577	436	F>Y		No	ClinGen ExAC gnomAD
rs1356762952 CA348393790	437	M>T		No	ClinGen gnomAD
CA55364781 rs1046468052	437	M>V		No	ClinGen TOPMed
CA348393773 rs1417685207	439	Y>C		No	ClinGen TOPMed gnomAD
rs1418648714 CA348393759	441	P>S		No	ClinGen gnomAD
CA1858813 rs749846597	443	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1389682993 CA348393723	445	I>V		No	ClinGen TOPMed gnomAD
rs748193402 COSM1286083 CA1858810 COSM1286082	454	A>T	Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs755322737 CA1858808	458	N>K		No	ClinGen ExAC TOPMed gnomAD
rs781356605 CA1858809	458	N>S		No	ClinGen ExAC gnomAD
rs781356605 CA348393630	458	N>T		No	ClinGen ExAC gnomAD
CA348393625 rs1181893623	459	V>L		No	ClinGen TOPMed
CA1858807 rs751822930	460	T>A		No	ClinGen ExAC gnomAD
rs1214705956 CA348393614	461	R>K		No	ClinGen gnomAD
CA348393610 rs1337481614	461	R>S		No	ClinGen gnomAD
rs766325929 CA1858806	462	K>R		No	ClinGen ExAC gnomAD
CA1858805 rs368781392	465	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs750193743 CA1858804	465	R>H		No	ClinGen ExAC gnomAD
rs1442812529 CA348393557	469	E>D		No	ClinGen gnomAD
CA348393564 rs1326247247	469	E>K		No	ClinGen gnomAD
rs1330545734 CA348393551	470	G>D		No	ClinGen gnomAD
rs1397906028 CA348393556	470	G>S		No	ClinGen gnomAD
rs761749947 CA1858802	472	H>R		No	ClinGen ExAC gnomAD
rs1406274894 CA348393523	474	L>F		No	ClinGen TOPMed
rs760377757 CA1858799	477	N>D		No	ClinGen ExAC gnomAD
CA55361942 rs960546890	478	M>V		No	ClinGen TOPMed gnomAD
CA1858798 rs775097125	482	R>I		No	ClinGen ExAC gnomAD
CA1858797 rs771364036	484	I>V		No	ClinGen ExAC gnomAD
rs376670526 CA1858796	485	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs750197875	486	G>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs778700907 CA1858786	487	A>T		No	ClinGen ExAC TOPMed gnomAD
rs757207571 CA1858785	492	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1194450836 CA348393374	494	T>I		No	ClinGen TOPMed
COSM1006189 rs1280449237 CA348393359 COSM1006188	497	V>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1212504484 CA348393334	501	D>N		No	ClinGen gnomAD
CA1858783 rs763639766	504	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	505	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348393306 rs1573975645	505	S>G		No	ClinGen Ensembl
rs368309168 CA348393290	507	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs368309168 CA1858781	507	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs760142919 CA1858782	507	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA348393263 rs759164179	511	I>M		No	ClinGen ExAC TOPMed gnomAD
rs767095570 CA1858780	511	I>V		No	ClinGen ExAC gnomAD
rs1313569240 CA348393244	514	S>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs553818037 CA1858777	522	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1858774 rs769246668	526	Y>F		No	ClinGen ExAC
rs1180582383 CA348393152	528	M>T		No	ClinGen gnomAD
TCGA novel	532	V>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	533	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	534	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1858768 rs757023979	538	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA348393084 rs778051884	538	Y>H		No	ClinGen gnomAD
CA55357682 rs778051884	538	Y>N		No	ClinGen gnomAD
CA1858766 rs777715553	540	R>T		No	ClinGen ExAC TOPMed gnomAD
rs367985321 CA1858765	544	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1858746 rs756113043	551	V>A		No	ClinGen ExAC gnomAD
rs1468724553 CA348392925	559	P>L		No	ClinGen gnomAD
rs1480271538 CA348392888	564	F>C		No	ClinGen gnomAD
CA1858741 rs766078646	567	M>V		No	ClinGen ExAC gnomAD
CA55357136 rs892231382	568	A>V		No	ClinGen TOPMed gnomAD
CA348392791 rs1306107023	578	T>I		No	ClinGen gnomAD
rs1369191388 CA348392783 CA348392784	579	N>K		No	ClinGen TOPMed
CA1858740 rs372895759	581	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA1858738 rs764546713	584	P>L		No	ClinGen ExAC gnomAD
CA1858739 rs754261148	584	P>S		No	ClinGen ExAC gnomAD
CA348392750 rs1277546494	585	H>R		No	ClinGen TOPMed
rs1176196691 CA348392728	588	D>E		No	ClinGen Ensembl
rs370911611 CA55357102	589	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA
rs373484478 CA1858737	589	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1172583326 CA348392713	591	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA348392710 rs1454462153	591	R>Q		No	ClinGen gnomAD
rs927656066 CA55357098	594	L>I		No	ClinGen TOPMed
CA55357091 rs1009475830	596	R>Q		No	ClinGen TOPMed gnomAD
rs537861681 CA1858736	596	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	599	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1858735 rs767534599	599	V>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	600	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1858734 rs759688100	601	A>T		No	ClinGen ExAC gnomAD
rs1573975091 CA348392626	604	R>S		No	ClinGen Ensembl
CA1858733 rs774242849	607	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1210371159 CA348392559	614	M>K		No	ClinGen gnomAD
CA348392545 rs1348879477	616	V>L		No	ClinGen gnomAD
rs771152647 CA1858732	617	H>Y		No	ClinGen ExAC gnomAD
CA1858731 rs376224587	618	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA348392523 rs1573975069	619	H>P		No	ClinGen Ensembl
rs1573975064 CA348392515	620	H>S		No	ClinGen Ensembl
rs568937934 CA1858730	620	H>Y		No	ClinGen 1000Genomes ExAC gnomAD

No associated diseases with Q9Y2U5

2 regional properties for Q9Y2U5

Type	Name	Position	InterPro Accession
domain	Zinc finger, CW-type	490 - 544	IPR011124
domain	Morc, S5 domain 2-like	330 - 451	IPR041006

Functions

		Description
EC Number	2.7.11.25	Protein-serine/threonine kinases
Subcellular Localization	Cytoplasm Nucleus	Upon EGF stimulation, translocates into the nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
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.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.

7 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
MAP kinase kinase kinase activity	Catalysis of the phosphorylation and activation of a MAP kinase kinase; each MAP kinase kinase can be phosphorylated by any of several MAP kinase kinase kinases.
metal ion binding	Binding to a metal ion.
protein kinase activity	Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP.
protein kinase binding	Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.
protein serine kinase activity	Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate.
protein serine/threonine kinase activity	Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate.

3 GO annotations of biological process

Name	Definition
cellular response to mechanical 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 mechanical stimulus.
intracellular signal transduction	The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
protein phosphorylation	The process of introducing a phosphate group on to a protein.

9 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P51957	NEK4	Serine/threonine-protein kinase Nek4	Homo sapiens (Human)	PR
Q9Y3S1	WNK2	Serine/threonine-protein kinase WNK2	Homo sapiens (Human)	SS
Q9UHY1	NRBP1	Nuclear receptor-binding protein	Homo sapiens (Human)	PR
Q9H4A3	WNK1	Serine/threonine-protein kinase WNK1	Homo sapiens (Human)	SS
Q9BYP7	WNK3	Serine/threonine-protein kinase WNK3	Homo sapiens (Human)	SS
Q99759	MAP3K3	Mitogen-activated protein kinase kinase kinase 3	Homo sapiens (Human)	PR
Q61084	Map3k3	Mitogen-activated protein kinase kinase kinase 3	Mus musculus (Mouse)	PR
Q61083	Map3k2	Mitogen-activated protein kinase kinase kinase 2	Mus musculus (Mouse)	PR
O22042	ANP3	Mitogen-activated protein kinase kinase kinase 3	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MDDQQALNSI	MQDLAVLHKA	SRPALSLQET	RKAKSSSPKK	QNDVRVKFEH	RGEKRILQFP
70	80	90	100	110	120
RPVKLEDLRS	KAKIAFGQSM	DLHYTNNELV	IPLTTQDDLD	KAVELLDRSI	HMKSLKILLV
130	140	150	160	170	180
INGSTQATNL	EPLPSLEDLD	NTVFGAERKK	RLSIIGPTSR	DRSSPPPGYI	PDELHQVARN
190	200	210	220	230	240
GSFTSINSEG	EFIPESMDQM	LDPLSLSSPE	NSGSGSCPSL	DSPLDGESYP	KSRMPRAQSY
250	260	270	280	290	300
PDNHQEFSDY	DNPIFEKFGK	GGTYPRRYHV	SYHHQEYNDG	RKTFPRARRT	QGTSLRSPVS
310	320	330	340	350	360
FSPTDHSLST	SSGSSIFTPE	YDDSRIRRRG	SDIDNPTLTV	MDISPPSRSP	RAPTNWRLGK
370	380	390	400	410	420
LLGQGAFGRV	YLCYDVDTGR	ELAVKQVQFD	PDSPETSKEV	NALECEIQLL	KNLLHERIVQ
430	440	450	460	470	480
YYGCLRDPQE	KTLSIFMEYM	PGGSIKDQLK	AYGALTENVT	RKYTRQILEG	VHYLHSNMIV
490	500	510	520	530	540
HRDIKGANIL	RDSTGNVKLG	DFGASKRLQT	ICLSGTGMKS	VTGTPYWMSP	EVISGEGYGR
550	560	570	580	590	600
KADIWSVACT	VVEMLTEKPP	WAEFEAMAAI	FKIATQPTNP	KLPPHVSDYT	RDFLKRIFVE
610
AKLRPSADEL	LRHMFVHYH