AiPD: Autoinhibited Protein Database

P48549

Gene name	KCNJ3 (GIRK1)
Protein name	G protein-activated inward rectifier potassium channel 1
Names	GIRK-1, Inward rectifier K(+) channel Kir3.1, Potassium channel, inwardly rectifying subfamily J member 3
Species	Homo sapiens (Human)
KEGG Pathway	hsa:3760
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

335-420 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

335-420 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

1 structures for P48549

Entry ID	Method	Resolution	Chain	Position	Source
AF-P48549-F1	Predicted				AlphaFoldDB

256 variants for P48549

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA348675746 rs1354793156 COSM387104	3	A>G	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs772946604 CA58976578	3	A>S		No	ClinGen Ensembl
CA348675747 rs1354793156	3	A>V		No	ClinGen gnomAD
TCGA novel	5	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348675768 rs1574424513	7	K>E		No	ClinGen Ensembl
CA1915966 rs765048252	8	F>L		No	ClinGen ExAC TOPMed gnomAD
CA1915965 rs376120670	8	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs866557536 CA58976579	10	D>E		No	ClinGen Ensembl
rs750258804 CA348675793	11	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1915967 rs750258804	11	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA348675804 rs1271832848	12	Y>C		No	ClinGen TOPMed
CA58976580 rs866656724	13	Q>*		No	ClinGen Ensembl
CA1915968 rs370581540	14	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA348675829 rs1574424545	16	T>N		No	ClinGen Ensembl
TCGA novel	17	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779681417 CA1915969	18	S>A		No	ClinGen ExAC gnomAD
CA1915972 rs780801298	28	G>E		No	ClinGen ExAC
CA348675904 rs1308324324	28	G>R		No	ClinGen gnomAD
CA348675932 rs1574424576	32	D>A		No	ClinGen Ensembl
CA348675958 rs1170408270	35	Q>H		No	ClinGen gnomAD
CA348675956 rs1469836479	35	Q>L		No	ClinGen gnomAD
rs961260243 CA58976581	36	Q>R		No	ClinGen Ensembl
CA1915974 rs770362925	37	L>F		No	ClinGen ExAC TOPMed gnomAD
CA348675967 rs770362925	37	L>V		No	ClinGen ExAC TOPMed gnomAD
CA58976582 rs1048782016	38	V>M		No	ClinGen TOPMed
CA348675978 rs1397180409	39	P>S		No	ClinGen gnomAD
CA1915975 rs16838016 VAR_049669	40	K>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA1915977 rs771489524	45	R>L		No	ClinGen ExAC gnomAD
CA348676023 rs1574424617	46	F>V		No	ClinGen Ensembl
CA348676034 rs1323586199	47	V>A		No	ClinGen TOPMed
CA348676058 rs1574424629	50	N>K		No	ClinGen Ensembl
CA348676073 rs1574424637	53	C>G		No	ClinGen Ensembl
rs1324602706 CA348676111	58	G>C		No	ClinGen gnomAD
CA348676110 rs1324602706	58	G>R		No	ClinGen gnomAD
rs1558849082 CA348676131	61	G>D		No	ClinGen Ensembl
rs1392113942 CA348676143	63	E>Q		No	ClinGen TOPMed
CA1915987 rs758323912	64	T>K		No	ClinGen ExAC gnomAD
TCGA novel	66	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1915988 rs766216456	68	L>F		No	ClinGen ExAC TOPMed gnomAD
CA58976583 rs867432352	70	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	75	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348676228 rs1468753141	76	V>L		No	ClinGen TOPMed
rs1379622517 CA348676263	81	R>S		No	ClinGen TOPMed
rs1029458808 CA58976584	84	L>V		No	ClinGen TOPMed
CA58976585 rs955382991	89	L>F		No	ClinGen Ensembl
rs1214440777 CA348676331	90	T>I		No	ClinGen gnomAD
TCGA novel	95	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1915992 rs747717603 COSM240300	98	M>T	prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1474925551 CA348676417	102	W>C		No	ClinGen gnomAD
rs1191234143 CA348676432	104	V>A		No	ClinGen gnomAD
rs1191234143 CA348676433	104	V>G		No	ClinGen gnomAD
CA1915995 rs749867945	108	T>A		No	ClinGen ExAC gnomAD
rs774894373 CA1915997	113	N>S		No	ClinGen ExAC TOPMed gnomAD
CA348676504 rs1448124560	115	A>V		No	ClinGen TOPMed
CA58976588 CA58976587 rs372475497	116	H>Q		No	ClinGen ESP TOPMed gnomAD
rs1574424780 CA348676539	121	T>P		No	ClinGen Ensembl
TCGA novel	124	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	125	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs577033534 CA1916000	127	V>G		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	132	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760808775 CA1916001	138	I>F		No	ClinGen ExAC gnomAD
rs1284939849 CA348676680	141	E>G		No	ClinGen gnomAD
CA348676690 rs1574424823	143	T>P		No	ClinGen Ensembl
rs751389637 CA1916006	148	Y>*		No	ClinGen ExAC gnomAD
TCGA novel	149	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	151	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767213411 CA1916008	151	I>V		No	ClinGen ExAC gnomAD
TCGA novel	153	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	154	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348676767 rs1470912290	154	K>R		No	ClinGen gnomAD
rs1419603193 CA348676810	160	I>T		No	ClinGen gnomAD
TCGA novel	161	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777197107 CA1916011	167	I>T		No	ClinGen ExAC gnomAD
TCGA novel	173	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348676942 rs1574424886	180	M>L		No	ClinGen Ensembl
TCGA novel	184	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200419871 CA58976594	190	R>S		No	ClinGen Ensembl
CA1916015 rs746245820	195	M>R		No	ClinGen ExAC gnomAD
TCGA novel	197	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs956777531 CA58976595	197	S>T		No	ClinGen TOPMed
CA1916017 rs141745529	198	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1253728164 CA348677082	199	H>L		No	ClinGen gnomAD
rs768904391 CA1916019	199	H>N		No	ClinGen ExAC gnomAD
CA58976596 rs776734520	199	H>Q		No	ClinGen ExAC gnomAD
rs1271262788 CA348677086	200	A>S		No	ClinGen gnomAD
CA348677098 rs1231766331	202	I>V		No	ClinGen TOPMed gnomAD
CA58976597 rs917956230	204	M>L		No	ClinGen TOPMed gnomAD
CA348677110 rs917956230	204	M>V		No	ClinGen TOPMed gnomAD
rs866209282 CA58976599	207	G>E		No	ClinGen Ensembl
CA1916023 rs774218480	207	G>R		No	ClinGen ExAC gnomAD
TCGA novel	207	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1281563135 CA348677162	212	M>L		No	ClinGen TOPMed
rs1574424972 CA348677199	217	N>T		No	ClinGen Ensembl
rs767273300 CA1916025	220	N>D		No	ClinGen ExAC gnomAD
CA58976600 rs200105020	220	N>S		No	ClinGen ExAC gnomAD
CA1916026 rs200105020	220	N>T		No	ClinGen ExAC gnomAD
TCGA novel	235	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1423236044 CA348677338	236	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1235457882 CA348677361	239	P>L		No	ClinGen TOPMed
rs1476950180 CA348677373	241	G>D		No	ClinGen gnomAD
CA58977704 rs866946714	245	P>T		No	ClinGen Ensembl
TCGA novel	250	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1380394236 CA348677450	252	D>E		No	ClinGen TOPMed
CA58977705 rs868672401	252	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	255	F>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	256	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348677484 rs1415310861	257	T>I		No	ClinGen gnomAD
CA348677487 rs1291655705	258	G>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1301852501 CA348677517	262	L>P		No	ClinGen TOPMed
rs1337995555 CA537508739	262	L>Q		No	ClinGen gnomAD
rs1320530467 CA348677535 COSM1691167	265	V>L	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
CA348677550 rs1264275208	267	P>L		No	ClinGen gnomAD
TCGA novel	268	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1487120736 CA348677552	268	L>V		No	ClinGen gnomAD
rs749931705 CA1916051	269	T>A		No	ClinGen ExAC gnomAD
TCGA novel	269	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	270	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1916052 rs758872840	271	C>S		No	ClinGen ExAC gnomAD
CA348677584 rs1414640468	273	V>M		No	ClinGen gnomAD
CA1916056 rs201650481	275	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA1916057 rs748436406	276	A>D		No	ClinGen ExAC TOPMed gnomAD
rs1420207724 CA348677613	277	K>R		No	ClinGen gnomAD
CA58977709 rs940535938	279	P>R		No	ClinGen Ensembl
CA348677627 rs1157862584	279	P>S		No	ClinGen TOPMed gnomAD
CA348677625 rs1157862584	279	P>T		No	ClinGen TOPMed gnomAD
rs139118745 CA1916058	280	F>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1558852581 CA348677673	286	R>*		No	ClinGen Ensembl
CA1916061 rs369917007 COSM1691169	286	R>Q	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA1916063 rs564883420	288	M>I		No	ClinGen 1000Genomes ExAC gnomAD
rs775437486 CA1916062	288	M>L		No	ClinGen ExAC
CA348677695 rs550381772	289	Q>H		No	ClinGen 1000Genomes gnomAD
rs530569245 CA1916064	289	Q>K		No	ClinGen 1000Genomes ExAC gnomAD
CA1916065 rs776549846	289	Q>R		No	ClinGen ExAC gnomAD
COSM161857 CA1916068 rs772631957	297	V>I	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
TCGA novel	298	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	299	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	305	T>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348679071 rs1400550133	312	A>T		No	ClinGen gnomAD
CA58993737 rs932173038	313	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	315	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1916087 rs369065099	317	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs773721348 CA1916089	322	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
TCGA novel	324	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348679158 rs1439160814	325	H>Y		No	ClinGen gnomAD
CA348679167 rs1558892646	326	R>H		No	ClinGen Ensembl
CA348677832 rs760085492	328	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1336059125 CA348677837	329	P>R		No	ClinGen TOPMed
rs866529066 CA58993738	329	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	329	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	332	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	337	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	337	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	344	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	346	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	348	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1528111 CA348678006 rs1419201362	353	T>N	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA58993742 rs903173641	354	P>T		No	ClinGen Ensembl
rs1166481221 CA348678015	355	P>A		No	ClinGen TOPMed
CA348678030 rs1262177897	357	S>C		No	ClinGen gnomAD
TCGA novel	357	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	358	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757404503 CA1916096	359	K>N		No	ClinGen ExAC gnomAD
CA1916095 rs754153819	359	K>R		No	ClinGen ExAC gnomAD
CA58993743 rs868836829	363	E>K		No	ClinGen Ensembl
CA348678088 rs1574488093	365	L>F		No	ClinGen Ensembl
CA1916097 rs779095189	367	M>T		No	ClinGen ExAC TOPMed gnomAD
rs781229979 CA1916100	369	S>P		No	ClinGen ExAC gnomAD
CA58993744 rs747828471	370	P>A		No	ClinGen Ensembl
rs747973240 CA1916101	370	P>L		No	ClinGen ExAC gnomAD
CA1916102 rs769566627	371	L>*		No	ClinGen ExAC
TCGA novel	372	I>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1239173978 CA348678131	372	I>L		No	ClinGen gnomAD
CA1916105 rs770468604	372	I>M		No	ClinGen ExAC TOPMed gnomAD
CA1916104 rs749028307	372	I>T		No	ClinGen ExAC
CA348678135 rs1324849617	373	A>E		No	ClinGen gnomAD
rs773881872 CA1916106	373	A>P		No	ClinGen ExAC gnomAD
CA58993745 rs773881872	373	A>T		No	ClinGen ExAC gnomAD
TCGA novel	374	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	376	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1300415879 CA348678177	379	S>R		No	ClinGen gnomAD
rs1341391501 CA348678180	380	K>E		No	ClinGen gnomAD
rs1218208200 CA348678193	381	E>D		No	ClinGen gnomAD
CA1916111 rs764575434	382	R>G		No	ClinGen ExAC gnomAD
CA58993746 rs754125723	384	N>K		No	ClinGen ExAC gnomAD
rs1205428516 CA348678219	385	S>C		No	ClinGen TOPMed
CA348678244 rs1307167766	389	L>I		No	ClinGen TOPMed
CA1916114 rs762131544	393	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1449763338 CA348678270	393	D>N		No	ClinGen gnomAD
rs1263568146 CA348678289	395	I>T		No	ClinGen gnomAD
TCGA novel	396	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1487774593 CA348678303	397	T>I		No	ClinGen TOPMed gnomAD
rs1487774593 CA348678301	397	T>K		No	ClinGen TOPMed gnomAD
TCGA novel	401	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765340601 CA348678335	402	K>N		No	ClinGen ExAC gnomAD
rs758496794 CA1916117	404	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA1916118 rs781283145	408	G>R		No	ClinGen ExAC gnomAD
CA58993747 rs866024805	409	R>S		No	ClinGen Ensembl
CA58993748 rs868028816	413	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	415	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1404050964 CA348678431	416	L>R		No	ClinGen gnomAD
TCGA novel	416	L>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752750504 CA1916119	418	R>K		No	ClinGen ExAC gnomAD
CA348678444 rs755993501	418	R>S		No	ClinGen ExAC TOPMed gnomAD
CA1916121 rs777673419	420	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	421	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM3722244 CA58993749 rs930541277	422	T>A	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated TOPMed
TCGA novel	426	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1916122 rs749006838	427	A>P		No	ClinGen ExAC gnomAD
TCGA novel	427	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1448895977 CA348678504	427	A>V		No	ClinGen gnomAD
TCGA novel	430	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1354192548 CA348678533	431	G>A		No	ClinGen gnomAD
CA348678536 rs1352374841	432	D>Y		No	ClinGen TOPMed
TCGA novel	433	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348678560 rs1286474543	435	M>R		No	ClinGen gnomAD
CA348678586 rs951927978	439	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs951927978 CA58993750	439	R>G		No	ClinGen gnomAD
COSM1007965 CA348678587 rs1214174573	439	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA1916124 rs778477083	440	I>L		No	ClinGen ExAC TOPMed
rs1426941078 CA348678603 COSM1007966	441	S>R	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed
CA348678612 rs1420047843	443	V>F		No	ClinGen Ensembl
TCGA novel	443	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1280348842 CA348678621	444	P>L		No	ClinGen gnomAD
CA348678632 rs1386254224	446	N>S		No	ClinGen TOPMed
rs1442620631 CA348678643	448	E>K		No	ClinGen gnomAD
rs1235206423 CA348678674	452	V>A		No	ClinGen gnomAD
rs745385508 CA1916125	452	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1916126 rs771634848	453	S>A		No	ClinGen ExAC gnomAD
TCGA novel	455	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1381455075 CA348678705	457	K>R		No	ClinGen gnomAD
CA1916127 rs774966042	458	M>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA348678747 rs1404679365	463	M>K		No	ClinGen gnomAD
CA348678745 rs1157195148	463	M>V		No	ClinGen gnomAD
rs771679928 CA58993753	464	S>C		No	ClinGen Ensembl
rs1177822515 CA348678774	467	V>M		No	ClinGen TOPMed
rs1480377213 CA348678782	468	A>S		No	ClinGen TOPMed
TCGA novel	469	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1916128 rs747595845	472	P>S		No	ClinGen ExAC gnomAD
CA58993754 rs376877991	476	K>N		No	ClinGen ESP TOPMed
CA1916129 rs769009157	477	M>I		No	ClinGen ExAC gnomAD
CA1916130 rs777088216	478	A>S		No	ClinGen ExAC gnomAD
rs1040094913 COSM1528106 CA58993755	480	G>V	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs765512735 CA1916132	484	M>V		No	ClinGen ExAC gnomAD
CA1916134 rs773504384	487	N>K		No	ClinGen ExAC TOPMed gnomAD
CA348678911 rs1558892828	487	N>S		No	ClinGen Ensembl
rs1558892828 CA348678910	487	N>T		No	ClinGen Ensembl
CA348678924 rs189247108	489	P>L		No	ClinGen gnomAD
CA58993756 rs189247108	489	P>Q		No	ClinGen gnomAD
rs1164029433 CA348678925	490	A>T		No	ClinGen Ensembl
TCGA novel	492	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs267598932 CA58993757	495	M>I		No	ClinGen Ensembl
CA1916135 rs766625367	496	N>H		No	ClinGen ExAC TOPMed gnomAD
rs1239359925 COSM1007968 CA348678992	499	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA348678997 rs1222690056	500	F>L		No	ClinGen TOPMed
rs1347996571 CA348679005	501	T>A		No	ClinGen Ensembl
CA1916139 rs753679708	501	T>K		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with P48549

2 regional properties for P48549

Type	Name	Position	InterPro Accession
domain	Potassium channel, inwardly rectifying, transmembrane domain	47 - 187	IPR040445
domain	Inward rectifier potassium channel, C-terminal	194 - 364	IPR041647

Functions

		Description
EC Number
Subcellular Localization	Membrane; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
external side of plasma membrane	The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface.
integral component of presynaptic membrane	The component of the presynaptic membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
parallel fiber to Purkinje cell synapse	An excitatory synapse formed by the parallel fibers of granule cells synapsing onto the dendrites of Purkinje cells.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
T-tubule	Invagination of the plasma membrane of a muscle cell that extends inward from the cell surface around each myofibril. The ends of T-tubules make contact with the sarcoplasmic reticulum membrane.
voltage-gated potassium channel complex	A protein complex that forms a transmembrane channel through which potassium ions may cross a cell membrane in response to changes in membrane potential.

3 GO annotations of molecular function

Name	Definition
G-protein activated inward rectifier potassium channel activity	Enables the transmembrane transfer of a potassium ion by an inwardly-rectifying voltage-gated channel, where the inward rectification is due to a voltage-dependent block of the channel pore by a G protein. An inwardly rectifying current-voltage relation is one where at any given driving force the inward flow of K+ ions exceeds the outward flow for the opposite driving force.
voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization	Enables the transmembrane transfer of a potassium ion by a voltage-gated channel through the plasma membrane of an atrial cardiomyocyte contributing to the repolarization phase of an action potential. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded.
voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	Enables the transmembrane transfer of a potassium ion by a voltage-gated channel through the plasma membrane of a ventricular cardiomyocyte contributing to the repolarization phase of an action potential. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded.

7 GO annotations of biological process

Name	Definition
membrane repolarization during atrial cardiac muscle cell action potential	The process in which ions are transported across a membrane such that the atrial cardiomyocyte membrane potential changes in the direction from the positive membrane potential at the peak of the action potential towards the negative resting potential.
potassium ion import across plasma membrane	The directed movement of potassium ions from outside of a cell, across the plasma membrane and into the cytosol.
potassium ion transport	The directed movement of potassium ions (K+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
regulation of heart rate by cardiac conduction	A cardiac conduction process that modulates the frequency or rate of heart contraction.
regulation of ion transmembrane transport	Any process that modulates the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other.
response to electrical stimulus	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 an electrical stimulus.
ventricular cardiac muscle cell membrane repolarization	The process in which ions are transported across the plasma membrane of a ventricular cardiac muscle cell such that the membrane potential changes in the repolarizing direction, toward the steady state potential. For example, the repolarization during an action potential is from a positive membrane potential towards a negative resting potential.

15 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q4TZY1	KCNJ12	ATP-sensitive inward rectifier potassium channel 12	Bos taurus (Bovine)	PR
F1NHE9	KCNJ12	ATP-sensitive inward rectifier potassium channel 12	Gallus gallus (Chicken)	PR
Q15842	KCNJ8	ATP-sensitive inward rectifier potassium channel 8	Homo sapiens (Human)	PR
Q14654	KCNJ11	ATP-sensitive inward rectifier potassium channel 11	Homo sapiens (Human)	PR
B7U540	KCNJ18	Inward rectifier potassium channel 18	Homo sapiens (Human)	PR
Q14500	KCNJ12	ATP-sensitive inward rectifier potassium channel 12	Homo sapiens (Human)	PR
P97794	Kcnj8	ATP-sensitive inward rectifier potassium channel 8	Mus musculus (Mouse)	PR
Q8JZN3	Kcnj14	ATP-sensitive inward rectifier potassium channel 14	Mus musculus (Mouse)	PR
P52187	Kcnj12	ATP-sensitive inward rectifier potassium channel 12	Mus musculus (Mouse)	PR
P52189	Kcnj4	Inward rectifier potassium channel 4	Mus musculus (Mouse)	PR
Q9Z307	Kcnj16	Inward rectifier potassium channel 16	Mus musculus (Mouse)	PR
Q61743	Kcnj11	ATP-sensitive inward rectifier potassium channel 11	Mus musculus (Mouse)	PR
Q63664	Kcnj8	ATP-sensitive inward rectifier potassium channel 8	Rattus norvegicus (Rat)	PR
P70673	Kcnj11	ATP-sensitive inward rectifier potassium channel 11	Rattus norvegicus (Rat)	PR
P52188	Kcnj12	ATP-sensitive inward rectifier potassium channel 12	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MSALRRKFGD	DYQVVTTSSS	GSGLQPQGPG	QDPQQQLVPK	KKRQRFVDKN	GRCNVQHGNL
70	80	90	100	110	120
GSETSRYLSD	LFTTLVDLKW	RWNLFIFILT	YTVAWLFMAS	MWWVIAYTRG	DLNKAHVGNY
130	140	150	160	170	180
TPCVANVYNF	PSAFLFFIET	EATIGYGYRY	ITDKCPEGII	LFLFQSILGS	IVDAFLIGCM
190	200	210	220	230	240
FIKMSQPKKR	AETLMFSEHA	VISMRDGKLT	LMFRVGNLRN	SHMVSAQIRC	KLLKSRQTPE
250	260	270	280	290	300
GEFLPLDQLE	LDVGFSTGAD	QLFLVSPLTI	CHVIDAKSPF	YDLSQRSMQT	EQFEIVVILE
310	320	330	340	350	360
GIVETTGMTC	QARTSYTEDE	VLWGHRFFPV	ISLEEGFFKV	DYSQFHATFE	VPTPPYSVKE
370	380	390	400	410	420
QEEMLLMSSP	LIAPAITNSK	ERHNSVECLD	GLDDITTKLP	SKLQKITGRE	DFPKKLLRMS
430	440	450	460	470	480
STTSEKAYSL	GDLPMKLQRI	SSVPGNSEEK	LVSKTTKMLS	DPMSQSVADL	PPKLQKMAGG
490	500
AARMEGNLPA	KLRKMNSDRF	T