ATP-sensitive inward rectifier potassium channel 12

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Q14500 (IRK12_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified May 1, 2013. Version 129. History...

Clusters with 100%, 90%, 50% identity |

Documents (5) |

Third-party data

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Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents Customize order

Names and origin

Protein names

Recommended name:
ATP-sensitive inward rectifier potassium channel 12

Alternative name(s):
Inward rectifier K(+) channel Kir2.2
Short name=IRK-2
Inward rectifier K(+) channel Kir2.2v
Potassium channel, inwardly rectifying subfamily J member 12

Gene names

Name:	KCNJ12
Synonyms:	IRK2, KCNJN1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	433 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium and cesium.
Subunit structure	Association, via its PDZ-recognition domain, with LIN7A, LIN7B, LIN7C, DLG1, CASK and APBA1 plays a key role in its localization and trafficking By similarity.
Subcellular location	Membrane; Multi-pass membrane protein.
Sequence similarities	Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ12 subfamily. [View classification]

Ontologies

Keywords
Biological process	Ion transport Potassium transport Transport
Cellular component	Membrane
Coding sequence diversity	Polymorphism
Domain	Transmembrane Transmembrane helix
Ligand	Potassium
Molecular function	Ion channel Voltage-gated channel
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	blood circulation Non-traceable author statement Ref.1. Source: ProtInc muscle contraction Traceable author statement Ref.1. Source: ProtInc regulation of heart contraction Traceable author statement Ref.1. Source: ProtInc synaptic transmission Traceable author statement. Source: Reactome
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW plasma membrane Traceable author statement. Source: Reactome
Molecular_function	inward rectifier potassium channel activity Traceable author statement Ref.1. Source: ProtInc ion channel inhibitor activity Traceable author statement Ref.2. Source: ProtInc potassium channel regulator activity Traceable author statement Ref.2. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 433

433

ATP-sensitive inward rectifier potassium channel 12

PRO_0000154962

Regions

Topological domain

1 – 80

Cytoplasmic By similarity

Transmembrane

81 – 105

Helical; Name=M1; By similarity

Topological domain

106 – 129

Extracellular By similarity

Intramembrane

130 – 141

Helical; Pore-forming; Name=H5; By similarity

Intramembrane

142 – 148

Pore-forming; By similarity

Topological domain

149 – 157

Extracellular By similarity

Transmembrane

158 – 179

Helical; Name=M2; By similarity

Topological domain

180 – 433

254

Cytoplasmic By similarity

Motif

143 – 148

Selectivity filter By similarity

Motif

431 – 433

PDZ-binding Potential

Sites

Site

173

Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesium By similarity

Natural variations

Natural variant

R → Q.
Corresponds to variant rs3752032 [ dbSNP | Ensembl ].

VAR_024509

Natural variant

S → L.
Corresponds to variant rs1657738 [ dbSNP | Ensembl ].

VAR_049671

Natural variant

100

I → V. Ref.2
Corresponds to variant rs8076599 [ dbSNP | Ensembl ].

VAR_059365

Natural variant

118

R → Q.
Corresponds to variant rs1657740 [ dbSNP | Ensembl ].

VAR_059366

Natural variant

156

P → L.
Corresponds to variant rs1714864 [ dbSNP | Ensembl ].

VAR_049672

Natural variant

192

Q → H.
Corresponds to variant rs1657742 [ dbSNP | Ensembl ].

VAR_059367

Natural variant

249

I → V.
Corresponds to variant rs4985866 [ dbSNP | Ensembl ].

VAR_049673

Natural variant

430

E → G.
Corresponds to variant rs5021699 [ dbSNP | Ensembl ].

VAR_059368

Experimental info

Sequence conflict

R → H in AAC50615. Ref.2

Sequence conflict

M → I in AAC50615. Ref.2

Sequence conflict

139

E → K in AAC50615. Ref.2

Sequence conflict

142

T → N in AAC50615. Ref.2

Sequence conflict

145

G → S in AAC50615. Ref.2

Sequence conflict

173

D → N in AAC50615. Ref.2

Sequence conflict

184

M → V in AAC01951. Ref.5

Sequence conflict

185

A → V in AAC50615. Ref.2

Sequence conflict

211

L → F in AAC50615. Ref.2

Sequence conflict

239

E → K in AAC50615. Ref.2

Sequence conflict

261 – 262

RI → HS in AAC50615. Ref.2

Sequence conflict

285

Missing in AAA65122. Ref.1

Sequence conflict

289 – 290

ET → QM in AAC50615. Ref.2

Sequence conflict

297

V → I in AAC50615. Ref.2

Sequence conflict

302

M → I in AAC50615. Ref.2

Sequence conflict

334

Missing in AAC50615. Ref.2

Sequence conflict

334

Missing Ref.5

Sequence conflict

343

S → L in AAC50615. Ref.2

Sequence conflict

371

S → R in AAC50615. Ref.2

Sequence conflict

378

E → K in AAC50615. Ref.2

Sequence conflict

402

D → E in AAC50615. Ref.2

Sequence conflict

405

S → I in AAC50615. Ref.2

Sequences

Sequence

Length

Mass (Da)

Tools

Q14500 [UniParc].

Last modified October 11, 2005. Version 2.
Checksum: 082027A1765B6F4E
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FASTA

433

49,001

        10         20         30         40         50         60 
MTAASRANPY SIVSSEEDGL HLVTMSGANG FGNGKVHTRR RCRNRFVKKN GQCNIEFANM 

        70         80         90        100        110        120 
DEKSQRYLAD MFTTCVDIRW RYMLLIFSLA FLASWLLFGI IFWVIAVAHG DLEPAEGRGR 

       130        140        150        160        170        180 
TPCVMQVHGF MAAFLFSIET QTTIGYGLRC VTEECPVAVF MVVAQSIVGC IIDSFMIGAI 

       190        200        210        220        230        240 
MAKMARPKKR AQTLLFSHNA VVALRDGKLC LMWRVGNLRK SHIVEAHVRA QLIKPRVTEE 

       250        260        270        280        290        300 
GEYIPLDQID IDVGFDKGLD RIFLVSPITI LHEIDEASPL FGISRQDLET DDFEIVVILE 

       310        320        330        340        350        360 
GMVEATAMTT QARSSYLANE ILWGHRFEPV LFEEKNQYKI DYSHFHKTYE VPSTPRCSAK 

       370        380        390        400        410        420 
DLVENKFLLP SANSFCYENE LAFLSRDEED EADGDQDGRS RDGLSPQARH DFDRLQAGGG 

       430 
VLEQRPYRRE SEI

« Hide

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning and functional expression of an inwardly rectifying K+ channel from human atrium." Wible B.A., de Biasi M., Majumder K., Taglialatela M., Brown A.M. Circ. Res. 76:343-350(1995) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Heart atrium.
[2]	"Kir2.2v: a possible negative regulator of the inwardly rectifying K+ channel Kir2.2." Namba N., Inagaki N., Gonoi T., Seino Y., Seino S. FEBS Lett. 386:211-214(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT VAL-100.
[3]	"Identification of human Kir2.2 (KCNJ12) gene encoding functional inward rectifier potassium channel in both mammalian cells and Xenopus oocytes." Kaibara M., Ishihara K., Doi Y., Hayashi H., Ehara T., Taniyama K. FEBS Lett. 531:250-254(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Eye.
[5]	"An alternate promoter directs expression of a truncated, muscle-specific isoform of the human ankyrin 1 gene." Gallagher P.G., Forget B.G. J. Biol. Chem. 273:1339-1348(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 161-433. Tissue: Skeletal muscle.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	L36069 mRNA. Translation: AAA65122.1. U53143 Genomic DNA. Translation: AAC50615.1. AB074970 Genomic DNA. Translation: BAC02718.1. AB182123 mRNA. Translation: BAD23901.1. BC027982 mRNA. Translation: AAH27982.1. AF005214 mRNA. Translation: AAC01951.1.
IPI	IPI00450699.
PIR	I52864. S71341.
RefSeq	NP_066292.2. NM_021012.4.
UniGene	Hs.200629.
3D structure databases
ProteinModelPortal	Q14500.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000328150.
Protein family/group databases
TCDB	1.A.2.1.9. inward rectifier K+ channel (IRK-C) family.
PTM databases
PhosphoSite	Q14500.
Polymorphism databases
DMDM	77416868.
Proteomic databases
PaxDb	Q14500.
PRIDE	Q14500.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000331718; ENSP00000328150; ENSG00000184185. ENST00000567955; ENSP00000457807; ENSG00000261309. ENST00000583088; ENSP00000463778; ENSG00000184185.
GeneID	3768.
KEGG	hsa:3768.
UCSC	uc002gyv.1. human.
Organism-specific databases
CTD	3768.
GeneCards	GC17P021259.
HGNC	HGNC:6258. KCNJ12.
HPA	HPA027021.
MIM	602323. gene.
neXtProt	NX_Q14500.
PharmGKB	PA218.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG72812.
HOGENOM	HOG000237325.
HOVERGEN	HBG006178.
InParanoid	Q14500.
KO	K05005.
OMA	FGVIFWV.
OrthoDB	EOG4N04DV.
PhylomeDB	Q14500.
Enzyme and pathway databases
Reactome	REACT_13685. Neuronal System.
Gene expression databases
Bgee	Q14500.
Genevestigator	Q14500.
GermOnline	ENSG00000184185. Homo sapiens.
Family and domain databases
Gene3D	2.60.40.1400. 1 hit.
InterPro	IPR014756. Ig_E-set. IPR016449. K_chnl_inward-rec_Kir. IPR003272. K_chnl_inward-rec_Kir2.2. IPR013518. K_chnl_inward-rec_Kir_cyto. IPR013673. K_chnl_inward-rec_Kir_N. [Graphical view]
PANTHER	PTHR11767. PTHR11767. 1 hit. PTHR11767:SF14. PTHR11767:SF14. 1 hit.
Pfam	PF01007. IRK. 1 hit. PF08466. IRK_N. 1 hit. [Graphical view]
PIRSF	PIRSF005465. GIRK_kir. 1 hit.
PRINTS	PR01325. KIR22CHANNEL. PR01320. KIRCHANNEL.
SUPFAM	SSF81296. Ig_E-set. 1 hit.
ProtoNet	Search...
Other
DrugBank	DB00204. Dofetilide.
GenomeRNAi	3768.
NextBio	14775.
SOURCE	Search...

Entry information

Entry name

IRK12_HUMAN

Accession

Primary (citable) accession number: Q14500
Secondary accession number(s): O43401, Q15756, Q8NG63

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	October 11, 2005
Last modified:	May 1, 2013
This is version 129 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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List of human entries with polymorphisms or disease mutations

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Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents

Preferred order of sections

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Sequence annotation (Features)

Molecule processing

Regions

Sites

Natural variations

Experimental info

Sequences

References

Cross-references

Sequence databases

3D structure databases

Protein-protein interaction databases

Protein family/group databases

PTM databases

Polymorphism databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Gene expression databases

Family and domain databases

Other

Entry information

Relevant documents