• Gene id: 3764

Gene Summary

• Gene Symbol: KCNJ8   Gene   UCSC   Ensembl
• Aliases: KIR6.1, uKATP-1
• Gene name: potassium inwardly rectifying channel subfamily J member 8
• Alternate names: ATP-sensitive inward rectifier potassium channel 8, inward rectifier K(+) channel Kir6.1, inwardly rectifying potassium channel KIR6.1, potassium channel, inwardly rectifying subfamily J member 8, potassium voltage-gated channel subfamily J member 8,
• Gene location: 12p12.1 (21775592: 21764954)     Exons: 5     NC_000012.12
• Gene summary(Entrez): Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, whi
• OMIM: 605927

Protein Summary

• Protein general information: Q15842  
  • Name: ATP sensitive inward rectifier potassium channel 8 (Inward rectifier K(+) channel Kir6.1) (Potassium channel, inwardly rectifying subfamily J member 8) (uKATP 1)
  • Length: 424  
  • Mass: 47968
  • Tissue specificity: Predominantly detected in fetal and adult heart. {ECO
• Sequence:

  MLARKSIIPEEYVLARIAAENLRKPRIRDRLPKARFIAKSGACNLAHKNIREQGRFLQDIFTTLVDLKWRHTLVI
  FTMSFLCSWLLFAIMWWLVAFAHGDIYAYMEKSGMEKSGLESTVCVTNVRSFTSAFLFSIEVQVTIGFGGRMMTE
  ECPLAITVLILQNIVGLIINAVMLGCIFMKTAQAHRRAETLIFSRHAVIAVRNGKLCFMFRVGDLRKSMIISASV
  RIQVVKKTTTPEGEVVPIHQLDIPVDNPIESNNIFLVAPLIICHVIDKRSPLYDISATDLANQDLEVIVILEGVV
  ETTGITTQARTSYIAEEIQWGHRFVSIVTEEEGVYSVDYSKFGNTVKVAAPRCSARELDEKPSILIQTLQKSELS
  HQNSLRKRNSMRRNNSMRRNNSIRRNNSSLMVPKVQFMTPEGNQNTSES

• Structural information:
  • Interpro: IPR014756  IPR041647  IPR016449  IPR003278  IPR013518   IPR040445  
  • STRING: ENSP00000240662
• Other Databases: GeneCards:  KCNJ8  Malacards:  KCNJ8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005524	ATP binding	ISS	molecular function
GO:0015272	ATP-activated inward rectifier potassium channel activity	NAS	molecular function
GO:0019829	ATPase-coupled cation transmembrane transporter activity	ISS	molecular function
GO:0098662	inorganic cation transmembrane transport	ISS	biological process
GO:0150104	transport across blood-brain barrier	NAS	biological process
GO:0031004	potassium ion-transporting ATPase complex	ISS	cellular component
GO:0071805	potassium ion transmembrane transport	NAS	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0015272	ATP-activated inward rectifier potassium channel activity	IBA	molecular function
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:0005242	inward rectifier potassium channel activity	IEA	molecular function
GO:0006813	potassium ion transport	IEA	biological process
GO:0015272	ATP-activated inward rectifier potassium channel activity	IEA	molecular function
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:0006811	ion transport	IEA	biological process
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006813	potassium ion transport	IEA	biological process
GO:0005242	inward rectifier potassium channel activity	TAS	molecular function
GO:0006813	potassium ion transport	TAS	biological process
GO:0008076	voltage-gated potassium channel complex	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0015272	ATP-activated inward rectifier potassium channel activity	IDA	molecular function
GO:1902282	voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	IMP	molecular function
GO:1990573	potassium ion import across plasma membrane	IDA	biological process
GO:0098915	membrane repolarization during ventricular cardiac muscle cell action potential	IMP	biological process
GO:0016020	membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04022	cGMP-PKG signaling pathway

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881