• Gene id: 3768

Gene Summary

• Gene Symbol: KCNJ12   Gene   UCSC   Ensembl
• Aliases: IRK-2, IRK2, KCNJN1, Kir2.2, Kir2.2v, hIRK, hIRK1, hkir2.2x, kcnj12x
• Gene name: potassium inwardly rectifying channel subfamily J member 12
• Alternate names: ATP-sensitive inward rectifier potassium channel 12, inward rectifier K(+) channel Kir2.2v, inward rectifier K(+) channel Kir2.6, potassium channel, inwardly rectifying subfamily J, member 12, potassium inwardly-rectifying channel, subfamily J, inhibitor 1, po,
• Gene location: 17p11.2 (21376356: 21419869)     Exons: 5     NC_000017.11
• Gene summary(Entrez): This gene encodes an inwardly rectifying K+ channel which may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels which contribute to the cardiac inward rectifier current (IK1). The gene is located wi
• OMIM: 616748

Protein Summary

• Protein general information: Q14500  
  • Name: ATP sensitive inward rectifier potassium channel 12 (Inward rectifier K(+) channel Kir2.2) (IRK 2) (Inward rectifier K(+) channel Kir2.2v) (Potassium channel, inwardly rectifying subfamily J member 12)
  • Length: 433  
  • Mass: 49001
• Sequence:

  MTAASRANPYSIVSSEEDGLHLVTMSGANGFGNGKVHTRRRCRNRFVKKNGQCNIEFANMDEKSQRYLADMFTTC
  VDIRWRYMLLIFSLAFLASWLLFGIIFWVIAVAHGDLEPAEGRGRTPCVMQVHGFMAAFLFSIETQTTIGYGLRC
  VTEECPVAVFMVVAQSIVGCIIDSFMIGAIMAKMARPKKRAQTLLFSHNAVVALRDGKLCLMWRVGNLRKSHIVE
  AHVRAQLIKPRVTEEGEYIPLDQIDIDVGFDKGLDRIFLVSPITILHEIDEASPLFGISRQDLETDDFEIVVILE
  GMVEATAMTTQARSSYLANEILWGHRFEPVLFEEKNQYKIDYSHFHKTYEVPSTPRCSAKDLVENKFLLPSANSF
  CYENELAFLSRDEEDEADGDQDGRSRDGLSPQARHDFDRLQAGGGVLEQRPYRRESEI

• Structural information:
  • Interpro: IPR014756  IPR041647  IPR016449  IPR003272  IPR013518   IPR013673  IPR040445  
  • STRING: ENSP00000463778
• Other Databases: GeneCards:  KCNJ12  Malacards:  KCNJ12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IBA	cellular component
GO:0034765	regulation of ion transmembrane transport	IBA	biological process
GO:1990573	potassium ion import across plasma membrane	IBA	biological process
GO:0005242	inward rectifier potassium channel activity	IBA	molecular function
GO:0051289	protein homotetramerization	IDA	biological process
GO:0031224	intrinsic component of membrane	IDA	cellular component
GO:0005242	inward rectifier potassium channel activity	IDA	molecular function
GO:0006813	potassium ion transport	IDA	biological process
GO:0005242	inward rectifier potassium channel activity	IEA	molecular function
GO:0006813	potassium ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006813	potassium ion transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0006936	muscle contraction	TAS	biological process
GO:0008016	regulation of heart contraction	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0061337	cardiac conduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04921	Oxytocin signaling pathway
hsa04725	Cholinergic synapse

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq