HUMAN:IRK2

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	KCNJ2 (synonyms: IRK1)
Protein Name(s)	Inward rectifier potassium channel 2 Cardiac inward rectifier potassium channel Inward rectifier K(+) channel Kir2.1 IRK-1 hIRK1 Potassium channel, inwardly rectifying subfamily J member 2
External Links
UniProt	P63252
EMBL	U24055 U12507 U16861 AF153819 AF153820 U22413 AF011904 AF021139
PIR	I38727
RefSeq	NP_000882.1
UniGene	Hs.1547
ProteinModelPortal	P63252
SMR	P63252
BioGrid	109961
IntAct	P63252
STRING	9606.ENSP00000243457
ChEMBL	CHEMBL1914276
GuidetoPHARMACOLOGY	430
TCDB	1.A.2.1.2
PhosphoSite	P63252
DMDM	54037433
PaxDb	P63252
PeptideAtlas	P63252
PRIDE	P63252
DNASU	3759
Ensembl	ENST00000243457 ENST00000535240
GeneID	3759
KEGG	hsa:3759
UCSC	uc002jir.3
CTD	3759
GeneCards	GC17P068165
HGNC	HGNC:6263
HPA	HPA029109
MIM	170390 600681 609622 613980
neXtProt	NX_P63252
Orphanet	37553 334 51083
PharmGKB	PA214
eggNOG	NOG72812
HOGENOM	HOG000237325
HOVERGEN	HBG006178
InParanoid	P63252
KO	K04996
OMA	HNATVAM
OrthoDB	EOG7XPZ5K
PhylomeDB	P63252
TreeFam	TF313676
Reactome	REACT_13685
GeneWiki	Kir2.1
GenomeRNAi	3759
NextBio	14737
PRO	PR:P63252
Bgee	P63252
CleanEx	HS_KCNJ2
Genevestigator	P63252
GO	GO:0043197 GO:0005794 GO:0005887 GO:0014704 GO:0031224 GO:0043025 GO:0005886 GO:0005791 GO:0005790 GO:0030315 GO:0008076 GO:0005242 GO:0005546 GO:0086008 GO:0086002 GO:0030007 GO:0071260 GO:0015693 GO:0086012 GO:0086011 GO:0086013 GO:1901381 GO:0010107 GO:0071805 GO:0006813 GO:0051289 GO:0086091 GO:0060306 GO:0060075 GO:0014861 GO:0055119 GO:0090076 GO:0007268
Gene3D	2.60.40.1400
InterPro	IPR014756 IPR016449 IPR003271 IPR013518 IPR013673
PANTHER	PTHR11767 PTHR11767:SF15
Pfam	PF01007 PF08466
PIRSF	PIRSF005465
PRINTS	PR01324 PR01320
SUPFAM	SSF81296

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Notes	Status
involved_in	GO:0090076	relaxation of skeletal muscle	PMID:11371347^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0086091	regulation of heart rate by cardiac conduction	PMID:15761194^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0086013	membrane repolarization during cardiac muscle cell action potential	PMID:11371347^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0086011	membrane repolarization during action potential	PMID:11371347^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
enables	GO:0086008	voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	PMID:11371347^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		F	Seeded From UniProt	complete
involved_in	GO:0086002	cardiac muscle cell action potential involved in contraction	PMID:11371347^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0071805	potassium ion transmembrane transport	PMID:12086641^[3]	ECO:0000314	direct assay evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0060306	regulation of membrane repolarization	PMID:11371347^[1]	ECO:0000314	direct assay evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0055119	relaxation of cardiac muscle	PMID:11371347^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0014861	regulation of skeletal muscle contraction via regulation of action potential	PMID:11371347^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:1990573	potassium ion import across plasma membrane	PMID:11371347^[1]	ECO:0000314	direct assay evidence used in manual assertion		P	Seeded From UniProt	complete
part_of	GO:0008076	voltage-gated potassium channel complex	PMID:12086641^[3]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
enables	GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	PMID:12086641^[3]	ECO:0000314	direct assay evidence used in manual assertion		F	Seeded From UniProt	complete
enables	GO:0005242	inward rectifier potassium channel activity	PMID:11371347^[1]	ECO:0000314	direct assay evidence used in manual assertion		F	Seeded From UniProt	complete
enables	GO:0005242	inward rectifier potassium channel activity	PMID:12086641^[3]	ECO:0000314	direct assay evidence used in manual assertion		F	Seeded From UniProt	complete
involved_in	GO:0051289	protein homotetramerization	PMID:20921230^[4]	ECO:0000314	direct assay evidence used in manual assertion		P	Seeded From UniProt	complete
part_of	GO:0031224	intrinsic component of membrane	PMID:20921230^[4]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:0006813	potassium ion transport	PMID:20921230^[4]	ECO:0000314	direct assay evidence used in manual assertion		P	Seeded From UniProt	complete
enables	GO:0005242	inward rectifier potassium channel activity	PMID:20921230^[4]	ECO:0000314	direct assay evidence used in manual assertion		F	Seeded From UniProt	complete
involved_in	GO:1990573	potassium ion import across plasma membrane	PMID:21873635^[5]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:107501 PANTHER:PTN000205946 RGD:2960 RGD:61822 UniProtKB:P63252	P	Seeded From UniProt	complete
enables	GO:0005242	inward rectifier potassium channel activity	PMID:21873635^[5]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1194504 PANTHER:PTN000205946 RGD:2957 RGD:621662 RGD:628872 UniProtKB:A0A0B4KH86 UniProtKB:A0A0B4LHI9 UniProtKB:B7U540 UniProtKB:E7FD27 UniProtKB:F1NHE9 UniProtKB:P48544 UniProtKB:P48549 UniProtKB:P63252 UniProtKB:Q14500 WB:WBGene00002149 ZFIN:ZDB-GENE-031118-55 ZFIN:ZDB-GENE-131126-14	F	Seeded From UniProt	complete
involved_in	GO:0086001	cardiac muscle cell action potential	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P35561 ensembl:ENSMUSP00000037192	P	Seeded From UniProt	complete
enables	GO:0042802	identical protein binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P35561 ensembl:ENSMUSP00000037192	F	Seeded From UniProt	complete
involved_in	GO:0015693	magnesium ion transport	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P35561 ensembl:ENSMUSP00000037192	P	Seeded From UniProt	complete
involved_in	GO:1901381	positive regulation of potassium ion transmembrane transport	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q64273 ensembl:ENSRNOP00000006254	P	Seeded From UniProt	complete
involved_in	GO:0086004	regulation of cardiac muscle cell contraction	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q64273 ensembl:ENSRNOP00000006254	P	Seeded From UniProt	complete
involved_in	GO:0071260	cellular response to mechanical stimulus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q64273 ensembl:ENSRNOP00000006254	P	Seeded From UniProt	complete
part_of	GO:0043197	dendritic spine	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q64273 ensembl:ENSRNOP00000006254	C	Seeded From UniProt	complete
part_of	GO:0043025	neuronal cell body	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q64273 ensembl:ENSRNOP00000006254	C	Seeded From UniProt	complete
part_of	GO:0030425	dendrite	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q64273 ensembl:ENSRNOP00000006254	C	Seeded From UniProt	complete
part_of	GO:0030315	T-tubule	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q64273 ensembl:ENSRNOP00000006254	C	Seeded From UniProt	complete
part_of	GO:0014704	intercalated disc	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q64273 ensembl:ENSRNOP00000006254	C	Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q64273 ensembl:ENSRNOP00000006254	C	Seeded From UniProt	complete
part_of	GO:0005794	Golgi apparatus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q64273 ensembl:ENSRNOP00000006254	C	Seeded From UniProt	complete
part_of	GO:0005791	rough endoplasmic reticulum	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q64273 ensembl:ENSRNOP00000006254	C	Seeded From UniProt	complete
part_of	GO:0005790	smooth endoplasmic reticulum	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q64273 ensembl:ENSRNOP00000006254	C	Seeded From UniProt	complete
enables	GO:0005242	inward rectifier potassium channel activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR003271 InterPro:IPR016449	F	Seeded From UniProt	complete
involved_in	GO:0006813	potassium ion transport	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR003271 InterPro:IPR016449	P	Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR003271	C	Seeded From UniProt	complete
part_of	GO:0016021	integral component of membrane	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR016449	C	Seeded From UniProt	complete
part_of	GO:0005887	integral component of plasma membrane	PMID:7696590^[6]	ECO:0000304	author statement supported by traceable reference used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:0086013	membrane repolarization during cardiac muscle cell action potential	PMID:20086079^[7]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0086012	membrane depolarization during cardiac muscle cell action potential	PMID:20086079^[7]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0060075	regulation of resting membrane potential	PMID:20086079^[7]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0030007	cellular potassium ion homeostasis	PMID:20086079^[7]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0061337	cardiac conduction	Reactome:R-HSA-5576886	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	Reactome:R-HSA-1296046 Reactome:R-HSA-1013020	ECO:0000304	author statement supported by traceable reference used in manual assertion		C	Seeded From UniProt	complete
enables	GO:0005244	voltage-gated ion channel activity	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0851	F	Seeded From UniProt	complete
part_of	GO:0016021	integral component of membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0812	C	Seeded From UniProt	complete
involved_in	GO:0006813	potassium ion transport	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0633	P	Seeded From UniProt	complete
involved_in	GO:0034765	regulation of ion transmembrane transport	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0851	P	Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0472 UniProtKB-SubCell:SL-0162	C	Seeded From UniProt	complete
involved_in	GO:0006811	ion transport	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0406	P	Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ ^1.0 ^1.1 ^1.2 ^1.3 ^1.4 ^1.5 ^1.6 ^1.7 ^1.8 ^1.9 Plaster, NM et al. (2001) Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell 105 511-9 PubMed GONUTS page
↑ Priori, SG et al. (2005) A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene. Circ. Res. 96 800-7 PubMed GONUTS page
↑ ^3.0 ^3.1 ^3.2 ^3.3 Lopes, CM et al. (2002) Alterations in conserved Kir channel-PIP2 interactions underlie channelopathies. Neuron 34 933-44 PubMed GONUTS page
↑ ^4.0 ^4.1 ^4.2 ^4.3 D'Avanzo, N et al. (2010) Direct and specific activation of human inward rectifier K+ channels by membrane phosphatidylinositol 4,5-bisphosphate. J. Biol. Chem. 285 37129-32 PubMed GONUTS page
↑ ^5.0 ^5.1 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
↑ Raab-Graham, KF et al. (1994) Molecular cloning and expression of a human heart inward rectifier potassium channel. Neuroreport 5 2501-5 PubMed GONUTS page
↑ ^7.0 ^7.1 ^7.2 ^7.3 Hibino, H et al. (2010) Inwardly rectifying potassium channels: their structure, function, and physiological roles. Physiol. Rev. 90 291-366 PubMed GONUTS page

[PMID:11371347-1] 1.0 ^1.1 ^1.2 ^1.3 ^1.4 ^1.5 ^1.6 ^1.7 ^1.8 ^1.9 Plaster, NM et al. (2001) Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell 105 511-9 PubMed GONUTS page

[PMID:15761194-2] Priori, SG et al. (2005) A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene. Circ. Res. 96 800-7 PubMed GONUTS page

[PMID:12086641-3] 3.0 ^3.1 ^3.2 ^3.3 Lopes, CM et al. (2002) Alterations in conserved Kir channel-PIP2 interactions underlie channelopathies. Neuron 34 933-44 PubMed GONUTS page

[PMID:20921230-4] 4.0 ^4.1 ^4.2 ^4.3 D'Avanzo, N et al. (2010) Direct and specific activation of human inward rectifier K+ channels by membrane phosphatidylinositol 4,5-bisphosphate. J. Biol. Chem. 285 37129-32 PubMed GONUTS page

[PMID:21873635-5] 5.0 ^5.1 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

[PMID:7696590-6] Raab-Graham, KF et al. (1994) Molecular cloning and expression of a human heart inward rectifier potassium channel. Neuroreport 5 2501-5 PubMed GONUTS page

[PMID:20086079-7] 7.0 ^7.1 ^7.2 ^7.3 Hibino, H et al. (2010) Inwardly rectifying potassium channels: their structure, function, and physiological roles. Physiol. Rev. 90 291-366 PubMed GONUTS page

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HUMAN:IRK2

Contents

Annotations

Notes

References

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