AiPD: Autoinhibited Protein Database

Q13237

Gene name	PRKG2 (PRKGR2)
Protein name	cGMP-dependent protein kinase 2
Names	cGK 2, cGK2, cGMP-dependent protein kinase II, cGKII
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5593
EC number	2.7.11.12: Protein-serine/threonine kinases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

72-161 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

72-161 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

593-615 (Activation loop from InterPro)

Target domain	453-711 (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

7 structures for Q13237

Entry ID	Method	Resolution	Chain	Position	Source
5BV6	X-ray	194 A	A	269-418	PDB
5C6C	X-ray	205 A	A/B	137-277	PDB
5C8W	X-ray	180 A	A/B/C/D/E/F	137-277	PDB
5JIX	X-ray	147 A	A	269-418	PDB
5JIZ	X-ray	150 A	A	269-418	PDB
6BQ8	Other	200 A	A	269-418	PDB
AF-Q13237-F1	Predicted				AlphaFoldDB

463 variants for Q13237

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
VAR_086537	569	R>del	AMD4; decreased protein abundance; unable to phosphorylate RAF1 in response to FGF2 and to inhibit FGF2-induced MAPK signaling; unable to suppress SOX9-induced COL2A1 expression; unable to upregulate COL10A1 [UniProt]	Yes	UniProt
CA99612799 rs901413158	2	G>V		No	ClinGen Ensembl
rs1560628921 CA357162219	4	G>D		No	ClinGen Ensembl
rs1401276949 CA357162206	6	V>E		No	ClinGen Ensembl
CA357162210 rs1560628906	6	V>M		No	ClinGen Ensembl
CA2984035 rs551494338	8	P>R		No	ClinGen 1000Genomes ExAC gnomAD
rs549621974 CA99612791	9	K>R		No	ClinGen 1000Genomes TOPMed
CA2984034 rs139093432	10	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA357162158 rs757688228	13	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs781488557 CA2984033	13	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA357162154 rs1377821319	14	P>L		No	ClinGen gnomAD
rs747364669 CA2984031	14	P>S		No	ClinGen ExAC gnomAD
CA2984029 rs754590954	15	D>N		No	ClinGen ExAC gnomAD
COSM588360 CA357162150 rs754590954 COSM588359	15	D>Y	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs765708325 CA99612741	17	H>R		No	ClinGen Ensembl
rs755518936 CA2984026	18	S>C		No	ClinGen ExAC TOPMed gnomAD
rs192577898 CA2984025	19	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA357162112 rs963315125	21	L>F		No	ClinGen TOPMed gnomAD
rs963315125 CA99612730	21	L>V		No	ClinGen TOPMed gnomAD
rs34956759 CA99612723	22	T>I		No	ClinGen Ensembl
CA99612725 VAR_051633 rs34956759	22	T>S		No	ClinGen UniProt Ensembl dbSNP
CA99612714 rs916856737	23	T>A		No	ClinGen TOPMed
rs148254773 CA2984022	23	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2984021 rs763941574	24	D>G		No	ClinGen ExAC gnomAD
rs763941574 CA99612690	24	D>V		No	ClinGen ExAC gnomAD
rs1486763048 CA357162099	24	D>Y		No	ClinGen gnomAD
CA2984017 rs183060437	27	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM481578 COSM481577 CA2984018 rs187350442	27	R>W	Variant assessed as Somatic; 0.0002314 impact. kidney large_intestine urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA357162076 rs1355655926	28	N>S		No	ClinGen gnomAD
CA2984015 rs777257586	29	K>E		No	ClinGen ExAC gnomAD
CA99612664 rs1032955278	29	K>R		No	ClinGen TOPMed
CA357162065 rs771410076 CA2984014	30	V>L		No	ClinGen ExAC gnomAD
rs771410076 CA357162066	30	V>M		No	ClinGen ExAC gnomAD
CA99612650 rs966676731	31	T>I		No	ClinGen TOPMed gnomAD
CA2984012 rs759299128	34	E>K		No	ClinGen ExAC TOPMed gnomAD
rs547943840 CA2984011	39	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs528256766 CA2984010	43	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA357161961 rs1200953365	45	Q>R		No	ClinGen TOPMed
rs966786904 CA99612607	46	E>G		No	ClinGen Ensembl
rs1418761850 CA357161957	46	E>K		No	ClinGen gnomAD
CA99612590 rs199612321	47	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs199612321 COSM3409571 CA2984005 COSM3409572	47	R>Q	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA2984006 rs369304947	47	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA99612588 rs368293735	50	H>N		No	ClinGen Ensembl
rs1488090708 CA357161930	50	H>R		No	ClinGen gnomAD
CA357161924 rs1560628512	51	L>V		No	ClinGen Ensembl
CA357161903 rs1234522253	53	E>D		No	ClinGen gnomAD
TCGA novel	53	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA357161905 rs1271233219	53	E>V		No	ClinGen gnomAD
rs143773305 CA99612586	54	L>V		No	ClinGen ESP
rs763996547 CA357161896	55	R>L		No	ClinGen ExAC TOPMed gnomAD
rs763996547 CA2984002	55	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2984003 rs138293539	55	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs901059775 CA99612576	56	E>G		No	ClinGen Ensembl
CA2984000 rs753033493	57	Q>E		No	ClinGen ExAC gnomAD
rs573862255 CA2983999	57	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
CA2983998 rs759714578	58	L>M		No	ClinGen ExAC gnomAD
CA2983997 rs543931109	59	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	59	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	60	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770954502 CA2983996	60	K>E		No	ClinGen ExAC gnomAD
TCGA novel	60	K>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	62	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1278472990 CA357161834	65	I>M		No	ClinGen gnomAD
CA357161829 rs1307252887	66	A>D		No	ClinGen TOPMed
rs1240056510 CA357161833	66	A>T		No	ClinGen TOPMed
CA2983995 rs772997158	72	L>F		No	ClinGen ExAC gnomAD
CA2983994 rs371926830	75	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA2983993 rs772427647	77	I>V		No	ClinGen ExAC gnomAD
CA357161727 rs1468912770	81	K>E		No	ClinGen gnomAD
rs1193625346 CA357161690	86	V>A		No	ClinGen gnomAD
CA357161692 rs1256836464	86	V>M		No	ClinGen gnomAD
rs1228525457 CA357161684	87	H>R		No	ClinGen gnomAD
CA2983992 rs748455274	87	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1301770630 CA357161677	88	M>T		No	ClinGen TOPMed gnomAD
rs1007254791 CA99612545	88	M>V		No	ClinGen gnomAD
CA2983991 rs779814922	89	Q>E		No	ClinGen ExAC gnomAD
CA357161657 rs1466542604	91	G>R		No	ClinGen TOPMed gnomAD
rs769307657 CA357161647	92	S>R		No	ClinGen ExAC gnomAD
CA2983989 rs147037183	93	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	94	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1176638156 CA357161634	95	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1239469098 CA357161626	96	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs751548718 CA2983986	97	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1434403074 CA357161614	98	P>A		No	ClinGen gnomAD
rs369603303 CA99612526	98	P>L		No	ClinGen ESP TOPMed
rs1434403074 CA357161613	98	P>S		No	ClinGen gnomAD
rs777851898 CA2983985	99	D>Y		No	ClinGen ExAC gnomAD
rs1047503891 CA99612505	101	V>M		No	ClinGen TOPMed
rs1195310629 CA357161588	102	P>S		No	ClinGen TOPMed gnomAD
rs34616910 CA2983983 VAR_040608	106	H>R		No	ClinGen UniProt ExAC dbSNP gnomAD
rs759704753 CA2983981 COSM2955320 COSM2955321	107	R>Q	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA2983982 rs375411166	107	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs918352690 CA99612497	110	S>P		No	ClinGen Ensembl
rs1446716035 CA357161523	112	L>F		No	ClinGen TOPMed
rs766457660 CA2983979	114	S>C		No	ClinGen ExAC gnomAD
CA357161507 rs1422251937	115	L>P		No	ClinGen gnomAD
rs577248170 CA2983977	116	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1375660918 CA357161493	117	S>I		No	ClinGen TOPMed
CA357161417 rs1320186063	129	P>A		No	ClinGen TOPMed
rs769016833 CA2983973	132	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2983974 rs774548154	132	R>W		No	ClinGen ExAC TOPMed gnomAD
CA357161378 rs1560628014	135	D>V		No	ClinGen Ensembl
CA357161375 rs1317000168	136	L>V		No	ClinGen TOPMed
rs1560627989 CA357161369	137	N>D		No	ClinGen Ensembl
CA2983971 rs780927194	139	P>A		No	ClinGen ExAC gnomAD
rs770633181 CA357161352	139	P>H		No	ClinGen ExAC TOPMed gnomAD
rs770633181 CA2983970	139	P>L		No	ClinGen ExAC TOPMed gnomAD
rs770633181 CA357161351	139	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1256717141 CA357161349	140	P>A		No	ClinGen TOPMed gnomAD
CA357161346 rs991077506	140	P>L		No	ClinGen TOPMed gnomAD
CA99612461 rs991077506	140	P>R		No	ClinGen TOPMed gnomAD
CA357161338 rs1578523827	141	E>D		No	ClinGen Ensembl
rs867660938 CA99612458	143	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA357161300 rs1156755719	147	A>T		No	ClinGen gnomAD
rs746507687 CA2983969	147	A>V		No	ClinGen ExAC gnomAD
CA357161265 rs1578523781	152	D>N		No	ClinGen Ensembl
CA99598255 rs922114447	157	K>Q		No	ClinGen TOPMed
rs1444179826 CA357160559	157	K>R		No	ClinGen TOPMed
CA357160558 rs1444179826	157	K>T		No	ClinGen TOPMed
rs746562652 CA2983951	159	I>V		No	ClinGen ExAC gnomAD
TCGA novel	161	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	161	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1386860638 CA357160526	162	A>S		No	ClinGen TOPMed
rs772633886 CA2983950	163	L>F		No	ClinGen ExAC gnomAD
rs1384290948 CA357160497	166	N>S		No	ClinGen TOPMed gnomAD
CA357160489 rs1329254646	167	Q>R		No	ClinGen gnomAD
CA99598247 rs199920901	171	R>S		No	ClinGen 1000Genomes
rs748046133 CA2983948	173	D>E		No	ClinGen ExAC gnomAD
rs771558283 CA2983949	173	D>G		No	ClinGen ExAC gnomAD
CA357160451 rs1352627711	173	D>Y		No	ClinGen TOPMed
rs1443783392 CA357160445	174	P>S		No	ClinGen TOPMed
rs778839928 CA2983947	176	Q>E		No	ClinGen ExAC gnomAD
CA357160413 rs1465001126	178	K>N		No	ClinGen gnomAD
rs754794041 CA2983946	179	D>N		No	ClinGen ExAC gnomAD
CA2983945 rs145769252	180	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA357160372 rs1381652208	184	M>L		No	ClinGen TOPMed
rs1169406430 CA357160370	184	M>T		No	ClinGen TOPMed gnomAD
rs750603065 CA2983942	186	G>R		No	ClinGen ExAC gnomAD
rs752074471 CA2983939	189	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs867102677 CA99598190	190	Q>*		No	ClinGen gnomAD
rs1185102778 CA357160328	190	Q>P		No	ClinGen gnomAD
rs1249124858 CA357160307	193	S>C		No	ClinGen gnomAD
rs763463028 CA2983937	193	S>I		No	ClinGen ExAC gnomAD
rs1467576675 CA357160301	194	Y>H		No	ClinGen gnomAD
rs1560603331 CA357160270	198	Q>*		No	ClinGen Ensembl
CA2983934 rs772859724	201	P>S		No	ClinGen ExAC gnomAD
CA2983933 rs772859724	201	P>T		No	ClinGen ExAC gnomAD
CA2983932 rs141031882	204	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs866256614 CA99598145	204	H>Y		No	ClinGen Ensembl
CA357160196 rs1306226278	209	A>G		No	ClinGen TOPMed
CA357160166 rs1488021301	212	R>Q		No	ClinGen TOPMed
TCGA novel	214	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2983909 rs775339041	215	V>M		No	ClinGen ExAC gnomAD
CA2983908 rs769644668	216	F>I		No	ClinGen ExAC gnomAD
rs376913619 CA2983907	216	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA357160135 rs1419074058	217	Q>R		No	ClinGen gnomAD
CA2983906 rs566711398	218	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs985488263 CA99596801	221	L>S		No	ClinGen Ensembl
rs961166144 CA99596798	224	S>C		No	ClinGen TOPMed gnomAD
rs1208380099 CA357160076	226	P>L		No	ClinGen gnomAD
rs747161506 CA2983904	227	M>R		No	ClinGen ExAC gnomAD
COSM448208 CA357160074 rs1486539212 COSM448209	227	M>V	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA99596788 rs953247501	228	W>C		No	ClinGen Ensembl
TCGA novel	229	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2983901 rs753257317	234	L>F		No	ClinGen ExAC gnomAD
rs151098655 CA99596769	239	N>H		No	ClinGen ESP TOPMed
rs755449431 CA2983899	239	N>T		No	ClinGen ExAC gnomAD
CA357159965 rs1455368632	240	C>R		No	ClinGen TOPMed
CA2983897 rs767113787	241	T>A		No	ClinGen ExAC gnomAD
CA99596749 rs959153317	243	T>A		No	ClinGen TOPMed
TCGA novel	248	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA99595998 rs1054269497	250	T>S		No	ClinGen Ensembl
rs934497779 CA99595997	251	N>S		No	ClinGen TOPMed gnomAD
CA357159733 rs1578460743	253	K>N		No	ClinGen Ensembl
TCGA novel	254	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1452689852 CA357159722	255	W>*		No	ClinGen TOPMed
CA357159710 rs1458284600	257	L>I		No	ClinGen TOPMed gnomAD
CA2983881 rs779609767	259	R>*		No	ClinGen ExAC gnomAD
rs180794545 CA2983880	261	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA357159674 rs1192148070	262	F>L		No	ClinGen gnomAD
rs367712750 CA99595973	266	M>T		No	ClinGen gnomAD
TCGA novel	267	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2983877 rs756375957	268	R>K		No	ClinGen ExAC
CA2983875 rs146408307	270	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA357159599 rs1391431769	273	R>I		No	ClinGen TOPMed
rs757954080 CA99595958	274	D>E		No	ClinGen ExAC TOPMed gnomAD
CA2983873 rs752173745	276	Q>R		No	ClinGen ExAC gnomAD
CA357159557 rs1306039853	279	N>H		No	ClinGen TOPMed
rs759542953 CA2983871	279	N>I		No	ClinGen ExAC TOPMed gnomAD
CA2983870 rs143992630	281	L>F		No	ClinGen ESP ExAC gnomAD
rs1328348075 CA357159502	285	S>F		No	ClinGen gnomAD
rs924960171 CA99595046	285	S>P		No	ClinGen Ensembl
COSM263109 rs144720151 COSM263110 CA2983849	288	K>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	294	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1433874038 CA357159429	296	T>A		No	ClinGen TOPMed gnomAD
CA357159427 rs1263265315	296	T>I		No	ClinGen TOPMed
TCGA novel	297	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768785908 CA2983846	299	I>V		No	ClinGen ExAC
CA2983845 rs762927878	300	D>Y		No	ClinGen ExAC gnomAD
rs867286988 CA99595029	303	E>*		No	ClinGen Ensembl
rs1478355961 CA357159376	303	E>D		No	ClinGen gnomAD
CA2983843 rs770168040	304	V>M		No	ClinGen ExAC gnomAD
CA357164759 rs1560584673	306	Y>H		No	ClinGen Ensembl
rs1186764754 CA357164749	307	Y>C		No	ClinGen TOPMed gnomAD
CA357164742 rs1171371884	308	D>A		No	ClinGen gnomAD
rs778680190 CA2983818	312	Y>C		No	ClinGen ExAC gnomAD
rs747364743 CA2983819	312	Y>N		No	ClinGen ExAC gnomAD
rs778680190 CA357164713	312	Y>S		No	ClinGen ExAC gnomAD
rs1443459138 CA357164707	313	I>F		No	ClinGen gnomAD
CA99639764 rs866664833	313	I>T		No	ClinGen Ensembl
TCGA novel	313	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA99639763 rs1052242872	314	I>V		No	ClinGen Ensembl
CA357164680 rs1206839034	317	G>C		No	ClinGen TOPMed gnomAD
CA357164677 rs1203601013 COSM1291969 COSM1291968	317	G>V	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed
CA2983817 rs768165134	318	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA357164664 rs1353855899	319	E>V		No	ClinGen gnomAD
rs144485448 CA2983816	320	G>R		No	ClinGen ESP ExAC gnomAD
CA357164653 rs1448519875	321	S>N		No	ClinGen TOPMed gnomAD
rs1481420599 CA357164642	323	F>V		No	ClinGen TOPMed
CA357164633 rs1178935850	324	F>L		No	ClinGen TOPMed
rs1325712223 CA357164627	324	F>L		No	ClinGen gnomAD
rs1316143630 CA357164626	325	I>V		No	ClinGen gnomAD
TCGA novel	329	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1388725896 CA357164587	330	K>M		No	ClinGen gnomAD
rs1248584655 CA357164572	331	V>I		No	ClinGen gnomAD
CA2983798 rs775142753	332	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1272181329 CA357164535	336	S>N		No	ClinGen TOPMed gnomAD
CA357164525 rs1344204545	338	E>K		No	ClinGen gnomAD
rs1240131166 CA357164515	339	G>C		No	ClinGen TOPMed
rs745358480 CA357164513	339	G>D		No	ClinGen ExAC TOPMed gnomAD
CA2983796 rs745358480	339	G>V		No	ClinGen ExAC TOPMed gnomAD
rs149280984 CA2983794	340	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs746914865 CA2983793	341	D>H		No	ClinGen ExAC TOPMed gnomAD
CA99638380 rs76774487	342	Q>K		No	ClinGen Ensembl
rs947620733 CA99638376	342	Q>R		No	ClinGen TOPMed
TCGA novel	344	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA357164457 rs1457342227	348	T>A		No	ClinGen TOPMed
rs753019548	348	T>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA2983791 rs758141863	348	T>I		No	ClinGen ExAC
TCGA novel	349	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752925020 CA357164452	349	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1002598743 CA99638332	350	Q>R		No	ClinGen TOPMed
CA357164428 rs1368343110	352	G>A		No	ClinGen gnomAD
TCGA novel	357	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1432017643 CA357164376	359	A>V		No	ClinGen gnomAD
rs1023017879 CA99638301	360	L>F		No	ClinGen Ensembl
rs889657210 CA99636749	364	D>N		No	ClinGen Ensembl
CA357164326 rs1179123431	365	V>D		No	ClinGen gnomAD
TCGA novel	374	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	375	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA99636746 rs1026716873	382	I>V		No	ClinGen Ensembl
CA357164202 rs1288738398	383	D>G		No	ClinGen TOPMed
rs769858245 CA2983770	384	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA357164199 rs769858245	384	R>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	386	T>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1246608314 CA357164158	388	N>S		No	ClinGen gnomAD
rs1313936811 CA357164132	392	G>S		No	ClinGen gnomAD
rs1315872987 CA357164106	396	E>*		No	ClinGen TOPMed gnomAD
CA2983751 rs768386011	400	Y>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	400	Y>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA357164073 rs768386011	400	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA357164022 rs780252159	408	L>V		No	ClinGen ExAC TOPMed gnomAD
CA2983747 rs147205318	410	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs781091224 CA2983746	410	R>H		No	ClinGen ExAC TOPMed gnomAD
CA2983748 rs147205318	410	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA357164002 rs1257158457	411	D>G		No	ClinGen TOPMed gnomAD
rs1257158457 CA357164001	411	D>V		No	ClinGen TOPMed gnomAD
TCGA novel	415	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs112801782	417	A>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA2983743 rs764556712	417	A>G		No	ClinGen ExAC TOPMed gnomAD
CA357163957 rs1167779908	417	A>T		No	ClinGen gnomAD
CA99633324 rs764556712	417	A>V		No	ClinGen ExAC TOPMed gnomAD
CA2983715 rs767062078	419	R>Q		No	ClinGen ExAC gnomAD
CA2983716 rs749988308	419	R>W		No	ClinGen ExAC gnomAD
CA357163931 rs1415354794	420	S>P		No	ClinGen TOPMed
rs1173754885 CA357163926	421	M>V		No	ClinGen gnomAD
CA2983712 rs763997624	422	S>F		No	ClinGen ExAC TOPMed gnomAD
rs775376307 CA2983710	427	S>Y		No	ClinGen ExAC gnomAD
CA357163877 rs1383742417	428	K>Q		No	ClinGen TOPMed
rs1254385275 CA357163873	428	K>R		No	ClinGen TOPMed gnomAD
CA2983708 rs138211185	429	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2983707 rs776712275	430	L>F		No	ClinGen ExAC gnomAD
rs537692247 CA357163855	431	S>C		No	ClinGen 1000Genomes gnomAD
rs537692247 CA99632317	431	S>F		No	ClinGen 1000Genomes gnomAD
TCGA novel	433	E>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA357163831 rs1267631846	435	I>V		No	ClinGen gnomAD
rs778460125 CA2983704	438	K>Q		No	ClinGen ExAC gnomAD
rs953313156 CA99632295	441	V>M		No	ClinGen TOPMed
COSM1694602 CA357163758 COSM1694601 rs1212201931	445	S>F	skin [Cosmic]	No	ClinGen cosmic curated TOPMed
CA2983702 rs200933391	446	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1415041514 CA357163735	449	P>L		No	ClinGen gnomAD
rs147027279 CA2983699	453	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA2983698 rs767064866	455	I>F		No	ClinGen ExAC gnomAD
CA2983697 rs756811534	457	A>T		No	ClinGen ExAC TOPMed gnomAD
CA357163657 rs1157938978	461	V>G		No	ClinGen TOPMed
rs1435469465 CA357163662	461	V>I		No	ClinGen TOPMed
TCGA novel	466	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1185390240 CA357163611	468	E>D		No	ClinGen gnomAD
CA2983670 rs370764328	484	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA99630821 rs370764328	484	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	485	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	489	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA357163413 rs1317206242	494	Q>R		No	ClinGen gnomAD
CA2983667 rs761789084	499	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs1436560351 CA357163370	500	S>P		No	ClinGen TOPMed
CA99630789 rs939124305	502	K>R		No	ClinGen Ensembl
rs774972977 CA2983666	503	R>K		No	ClinGen ExAC TOPMed gnomAD
rs201921306 CA99630757	503	R>S		No	ClinGen Ensembl
CA357163292 rs1366494333	510	S>C		No	ClinGen TOPMed
CA2983664 rs373273232	515	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1313433626 CA357162784	517	Y>H		No	ClinGen gnomAD
CA2983644 rs148306160	518	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA2983643 rs371262558	518	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	521	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA357162745 rs1244720720	522	D>E		No	ClinGen gnomAD
TCGA novel	522	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772888849 CA2983642	523	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1286809657 CA357162729	524	K>N		No	ClinGen gnomAD
CA2983641 rs143281279	525	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA99628292 rs143281279	525	Y>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA357162706 rs1302764465	528	M>L		No	ClinGen TOPMed gnomAD
rs146605505 COSM1671103 CA99628274 COSM1671102	534	L>V	ovary [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1177307199 CA357162657	535	G>D		No	ClinGen gnomAD
CA2983636 rs780130091	541	I>V		No	ClinGen ExAC gnomAD
CA357162596 rs1255291620	544	D>H		No	ClinGen gnomAD
rs1362144440 CA357162558	547	S>R		No	ClinGen gnomAD
CA99626817 rs1044100600	548	F>I		No	ClinGen TOPMed
CA2983618 rs768113639	549	D>H		No	ClinGen ExAC gnomAD
rs1360098549 CA357162533	551	P>A		No	ClinGen TOPMed
rs1228394520 CA357162531	551	P>R		No	ClinGen gnomAD
rs980989962 CA99626790	552	T>A		No	ClinGen TOPMed
CA357162527 rs980989962	552	T>S		No	ClinGen TOPMed
TCGA novel	556	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM2157208 rs745754260 CA2983614 COSM2157207	557	V>I	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1372843897 CA357162457	562	E>G		No	ClinGen TOPMed
CA357162410 rs1291510415	569	R>*		No	ClinGen gnomAD
CA2983613 rs780864218	569	R>L		No	ClinGen ExAC TOPMed gnomAD
CA357162408 rs780864218	569	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2983612 rs757069865	571	G>R		No	ClinGen ExAC gnomAD
rs1417333846 CA357162384	573	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA2983610 rs764354837	576	D>E		No	ClinGen ExAC gnomAD
CA2983611 COSM3428702 COSM3428701 rs751785646	576	D>Y	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA
rs1359290257 CA357162362	577	L>M		No	ClinGen TOPMed gnomAD
TCGA novel	578	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	578	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA99626649 rs992380379	579	P>L		No	ClinGen TOPMed gnomAD
rs992380379 CA357162345	579	P>Q		No	ClinGen TOPMed gnomAD
rs140303803 CA99626657 COSM107928	579	P>S	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA2983609 rs758512568	580	E>D		No	ClinGen ExAC gnomAD
rs1490941351 CA357162289	587	E>D		No	ClinGen gnomAD
CA357162285 rs1293006166	588	G>C		No	ClinGen gnomAD
rs1560543898 CA357161227	594	D>Y		No	ClinGen Ensembl
rs766890690 CA2983586	598	A>V		No	ClinGen ExAC gnomAD
TCGA novel	599	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1337369957 CA357161178	600	K>N		No	ClinGen gnomAD
CA2983584 rs561520112	601	I>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1395422824 CA357161159	603	S>F		No	ClinGen gnomAD
rs1177991190 CA357161143	606	K>E		No	ClinGen TOPMed gnomAD
CA357161135 rs1560543829	607	T>A		No	ClinGen Ensembl
CA99606445 rs770087958	614	P>A		No	ClinGen Ensembl
CA357161051 rs1410771687	619	P>L		No	ClinGen gnomAD
TCGA novel	621	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769485643 CA2983580	622	I>V		No	ClinGen ExAC gnomAD
CA2983579 rs759061992	623	L>F		No	ClinGen ExAC gnomAD
rs899871798 CA99606409	624	N>K		No	ClinGen TOPMed
CA2983577 rs770931091	624	N>S		No	ClinGen ExAC TOPMed gnomAD
rs776473582 CA2983578	624	N>Y		No	ClinGen ExAC gnomAD
CA357161018 rs1442402207	625	K>Q		No	ClinGen gnomAD
CA99606405 COSM352162 rs1041060556 COSM352163	627	H>R	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
CA357161002 rs1236273798	627	H>Y		No	ClinGen TOPMed
rs746868914 CA2983576	628	D>G		No	ClinGen ExAC
rs112798364 CA99606395	630	S>G		No	ClinGen Ensembl
rs145797166 CA2983573	631	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs372904531 CA2983574	631	V>M		No	ClinGen ESP ExAC gnomAD
CA2983572 COSM1540727 COSM1540726 rs779096403	632	D>Y	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA99606381 rs867153918	633	F>I		No	ClinGen Ensembl
CA2983570 rs753927835	633	F>L		No	ClinGen ExAC
CA2983571 rs755101378	633	F>Y		No	ClinGen ExAC
CA2983568 rs779960963	634	W>*		No	ClinGen ExAC
CA2983569 rs749314930	634	W>*		No	ClinGen ExAC gnomAD
CA357160952 rs1285670222	634	W>C		No	ClinGen TOPMed
CA553083457 rs1218620628	634	W>R		No	ClinGen gnomAD
CA2983565 rs752793942	635	S>*		No	ClinGen ExAC
rs760444787 CA2983564	635	S>*		No	ClinGen ExAC gnomAD
rs1243906464 CA357160945	636	L>M		No	ClinGen TOPMed gnomAD
rs768000424 CA2983561	640	V>A		No	ClinGen ExAC
rs762265808 CA2983560	641	Y>H		No	ClinGen ExAC gnomAD
rs752445893 CA2983559	643	L>F		No	ClinGen ExAC gnomAD
rs575558482 CA2983557	645	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA99603102 rs868261975	650	F>L		No	ClinGen Ensembl
CA357160838 rs1184886233	651	S>C		No	ClinGen gnomAD
rs761702360 CA2983532	653	V>I		No	ClinGen ExAC gnomAD
CA357160822 rs1242923777	654	D>A		No	ClinGen gnomAD
rs988607517 CA99603089	654	D>Y		No	ClinGen TOPMed
TCGA novel	655	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774157529 CA2983531	658	T>S		No	ClinGen ExAC gnomAD
rs1489798291 CA357160783	659	Y>C		No	ClinGen gnomAD
CA357160757 rs1357365730	663	L>I		No	ClinGen gnomAD
rs370269168 CA99603042	666	I>T		No	ClinGen ESP gnomAD
TCGA novel	668	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA357160710 rs1434216778	669	M>R		No	ClinGen Ensembl
CA357160714 rs1560539719	669	M>V		No	ClinGen Ensembl
CA2983528 rs190673928	671	F>L		No	ClinGen 1000Genomes ExAC gnomAD
CA99603033 rs1000243529	673	R>T		No	ClinGen TOPMed
TCGA novel	675	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2983526 rs745909792	676	T>A		No	ClinGen ExAC gnomAD
CA2983525 rs781379008	676	T>R		No	ClinGen ExAC TOPMed gnomAD
CA99603016 rs867510159	677	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA357160658 rs757860585	677	R>L		No	ClinGen ExAC TOPMed gnomAD
CA357160659 rs757860585	677	R>P		No	ClinGen ExAC TOPMed gnomAD
CA2983524 rs757860585	677	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2983523 rs760133321	678	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2983522 rs778199944	678	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	682	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2983520 rs753582287	684	R>L		No	ClinGen ExAC TOPMed gnomAD
CA357160616 rs753582287	684	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	684	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs987651040 CA99602959	685	R>K		No	ClinGen TOPMed gnomAD
rs953648423 CA99602943	686	L>F		No	ClinGen Ensembl
rs747582690 CA2983502	688	R>S		No	ClinGen ExAC gnomAD
rs934758645 CA99601839	690	N>S		No	ClinGen Ensembl
CA2983501 rs778125868	691	P>T		No	ClinGen ExAC gnomAD
TCGA novel	694	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA357159895 rs1263357804	694	R>S		No	ClinGen TOPMed gnomAD
CA2983499 rs748432620 CA2983500	697	N>K		No	ClinGen ExAC TOPMed gnomAD
rs376309288 CA2983497	699	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2983496 rs368664749	702	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1374742486 CA357159825	703	N>S		No	ClinGen gnomAD
rs780685462 CA357159817	704	D>G		No	ClinGen ExAC gnomAD
CA2983495 rs780685462	704	D>V		No	ClinGen ExAC gnomAD
rs924591161 CA99601757	705	I>V		No	ClinGen Ensembl
CA357411273 rs1291561738	713	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
VAR_040609	716	W>R	a colorectal adenocarcinoma sample; somatic mutation [UniProt]	No	UniProt
rs1292504383 CA357411232	718	G>A		No	ClinGen gnomAD
rs1292504383 CA357411234	718	G>V		No	ClinGen gnomAD
rs748642381 CA2983462	719	L>V		No	ClinGen ExAC gnomAD
rs1376288803 CA357411223	720	K>R		No	ClinGen gnomAD
CA357411215 rs1324820305	721	A>G		No	ClinGen gnomAD
CA2983459 rs140080099	722	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs780810215 CA2983458	722	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2983460 rs140080099	722	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA2983456 rs751059878	723	S>R		No	ClinGen ExAC gnomAD
TCGA novel	724	L>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2983454 rs758280225	729	Q>E		No	ClinGen ExAC gnomAD
CA357411166 rs1460014049	730	R>G		No	ClinGen TOPMed gnomAD
rs894813536 CA100038411	735	P>H		No	ClinGen TOPMed
rs766229697 CA2983429	736	I>V		No	ClinGen ExAC TOPMed gnomAD
CA357411105 rs1560524867	737	D>G		No	ClinGen Ensembl
TCGA novel	737	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1451261429 CA357411098	738	H>P		No	ClinGen gnomAD
CA100038408 rs965933216	739	S>G		No	ClinGen Ensembl
CA357411090 rs1338254370	739	S>N		No	ClinGen gnomAD
rs756304665 CA357411064	742	D>E		No	ClinGen ExAC TOPMed gnomAD
rs750593016 CA2983427	744	Y>H		No	ClinGen ExAC gnomAD
CA357411052 rs1422157793	744	Y>S		No	ClinGen gnomAD
CA2983426 rs562688407	745	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA357411039 rs1560524806	746	P>R		No	ClinGen Ensembl
rs1017752528 CA100038403	746	P>S		No	ClinGen TOPMed
rs1007287261 CA100038398	755	L>P		No	ClinGen TOPMed
rs1007287261 CA100038400	755	L>Q		No	ClinGen TOPMed
CA100038393 rs868077737 COSM163747 COSM163748	761	D>N	NS [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1241403547 CA357410917	763	F>W		No	ClinGen gnomAD

2 associated diseases with Q13237

[MIM: 619638]: Spondylometaphyseal dysplasia, Pagnamenta type (SMDP)

A form of spondylometaphyseal dysplasia, a group of short stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. SMDP is an autosomal recessive form characterized by short stature and mild platyspondyly with no disproportion between the limbs. Mild metaphyseal changes are present. {ECO:0000269|PubMed:34782440}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 619636]: Acromesomelic dysplasia 4 (AMD4)

A form of acromesomelic dysplasia, a skeletal disorder characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMD4 radiographic hallmarks include mild to moderate platyspondyly, moderate brachydactyly, iliac flaring, and metaphyseal alterations of the long bones that progressively increase with age. AMD4 inheritance is autosomal recessive. {ECO:0000269|PubMed:33106379, ECO:0000269|PubMed:34782440}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of spondylometaphyseal dysplasia, a group of short stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. SMDP is an autosomal recessive form characterized by short stature and mild platyspondyly with no disproportion between the limbs. Mild metaphyseal changes are present. {ECO:0000269|PubMed:34782440}. Note=The disease is caused by variants affecting the gene represented in this entry.
A form of acromesomelic dysplasia, a skeletal disorder characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMD4 radiographic hallmarks include mild to moderate platyspondyly, moderate brachydactyly, iliac flaring, and metaphyseal alterations of the long bones that progressively increase with age. AMD4 inheritance is autosomal recessive. {ECO:0000269|PubMed:33106379, ECO:0000269|PubMed:34782440}. Note=The disease is caused by variants affecting the gene represented in this entry.

11 regional properties for Q13237

Type	Name	Position	InterPro Accession
domain	Cyclic nucleotide-binding domain	168 - 284	IPR000595-1
domain	Cyclic nucleotide-binding domain	286 - 409	IPR000595-2
domain	Protein kinase domain	453 - 711	IPR000719
domain	AGC-kinase, C-terminal	712 - 762	IPR000961
active_site	Serine/threonine-protein kinase, active site	572 - 584	IPR008271
binding_site	Protein kinase, ATP binding site	459 - 486	IPR017441
conserved_site	Cyclic nucleotide-binding, conserved site	195 - 211	IPR018488-1
conserved_site	Cyclic nucleotide-binding, conserved site	231 - 248	IPR018488-2
conserved_site	Cyclic nucleotide-binding, conserved site	313 - 329	IPR018488-3
conserved_site	Cyclic nucleotide-binding, conserved site	355 - 372	IPR018488-4
domain	cGMP-dependent protein kinase, catalytic domain	459 - 718	IPR035014

Functions

		Description
EC Number	2.7.11.12	Protein-serine/threonine kinases
Subcellular Localization	Apical cell membrane ; Lipid-anchor
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
apical plasma membrane	The region of the plasma membrane located at the apical end of the cell.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
nuclear membrane	Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space.

7 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
cGMP binding	Binding to cGMP, the nucleotide cyclic GMP (guanosine 3',5'-cyclophosphate).
cGMP-dependent protein kinase activity	cGMP dependent catalysis of the reaction: ATP + a protein = ADP + a phosphoprotein.
identical protein binding	Binding to an identical protein or proteins.
mitogen-activated protein kinase binding	Binding to a mitogen-activated protein kinase.
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 serine kinase activity	Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate.

8 GO annotations of biological process

Name	Definition
negative regulation of chloride transport	Any process that stops, prevents or reduces the frequency, rate or extent of chloride transport.
negative regulation of chondrocyte proliferation	Any process that stops, prevents, or reduces the frequency, rate or extent of the multiplication or reproduction of chondrocytes by cell division, resulting in the expansion of their population. A chondrocyte is a polymorphic cell that forms cartilage.
peptidyl-serine autophosphorylation	The phosphorylation by a protein of one or more of its own serine amino acid residues, or a serine residue on an identical protein.
protein localization to plasma membrane	A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane.
protein phosphorylation	The process of introducing a phosphate group on to a protein.
regulation of chondrocyte differentiation	Any process that modulates the frequency, rate or extent of chondrocyte differentiation.
signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.
tetrahydrobiopterin metabolic process	The chemical reactions and pathways involving tetrahydrobiopterin, the reduced form of biopterin (2-amino-4-hydroxy-6-(1,2-dihydroxypropyl)-pteridine). It functions as a hydroxylation coenzyme, e.g. in the conversion of phenylalanine to tyrosine.

8 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P00516	PRKG1	cGMP-dependent protein kinase 1	Bos taurus (Bovine)	SS
Q03043	for	cGMP-dependent protein kinase, isozyme 2 forms cD4/T1/T3A/T3B	Drosophila melanogaster (Fruit fly)	SS
P17612	PRKACA	cAMP-dependent protein kinase catalytic subunit alpha	Homo sapiens (Human)	PR
Q13976	PRKG1	cGMP-dependent protein kinase 1	Homo sapiens (Human)	EV
P0C605	Prkg1	cGMP-dependent protein kinase 1	Mus musculus (Mouse)	SS
Q61410	Prkg2	cGMP-dependent protein kinase 2	Mus musculus (Mouse)	PR
Q64595	Prkg2	cGMP-dependent protein kinase 2	Rattus norvegicus (Rat)	PR
O76360	egl-4	cGMP-dependent protein kinase egl-4	Caenorhabditis elegans	PR

10	20	30	40	50	60
MGNGSVKPKH	SKHPDGHSGN	LTTDALRNKV	TELERELRRK	DAEIQEREYH	LKELREQLSK
70	80	90	100	110	120
QTVAIAELTE	ELQNKCIQLN	KLQDVVHMQG	GSPLQASPDK	VPLEVHRKTS	GLVSLHSRRG
130	140	150	160	170	180
AKAGVSAEPT	TRTYDLNKPP	EFSFEKARVR	KDSSEKKLIT	DALNKNQFLK	RLDPQQIKDM
190	200	210	220	230	240
VECMYGRNYQ	QGSYIIKQGE	PGNHIFVLAE	GRLEVFQGEK	LLSSIPMWTT	FGELAILYNC
250	260	270	280	290	300
TRTASVKAIT	NVKTWALDRE	VFQNIMRRTA	QARDEQYRNF	LRSVSLLKNL	PEDKLTKIID
310	320	330	340	350	360
CLEVEYYDKG	DYIIREGEEG	STFFILAKGK	VKVTQSTEGH	DQPQLIKTLQ	KGEYFGEKAL
370	380	390	400	410	420
ISDDVRSANI	IAEENDVACL	VIDRETFNQT	VGTFEELQKY	LEGYVANLNR	DDEKRHAKRS
430	440	450	460	470	480
MSNWKLSKAL	SLEMIQLKEK	VARFSSSSPF	QNLEIIATLG	VGGFGRVELV	KVKNENVAFA
490	500	510	520	530	540
MKCIRKKHIV	DTKQQEHVYS	EKRILEELCS	PFIVKLYRTF	KDNKYVYMLL	EACLGGELWS
550	560	570	580	590	600
ILRDRGSFDE	PTSKFCVACV	TEAFDYLHRL	GIIYRDLKPE	NLILDAEGYL	KLVDFGFAKK
610	620	630	640	650	660
IGSGQKTWTF	CGTPEYVAPE	VILNKGHDFS	VDFWSLGILV	YELLTGNPPF	SGVDQMMTYN
670	680	690	700	710	720
LILKGIEKMD	FPRKITRRPE	DLIRRLCRQN	PTERLGNLKN	GINDIKKHRW	LNGFNWEGLK
730	740	750	760
ARSLPSPLQR	ELKGPIDHSY	FDKYPPEKGM	PPDELSGWDK	DF