• Gene id: 9424

Gene Summary

• Gene Symbol: KCNK6   Gene   UCSC   Ensembl
• Aliases: K2p6.1, KCNK8, TOSS, TWIK-2, TWIK2
• Gene name: potassium two pore domain channel subfamily K member 6
• Alternate names: potassium channel subfamily K member 6, K2P6.1 potassium channel, TWIK-originated similarity sequence, TWIK-originated sodium similarity sequence, inward rectifying potassium channel protein TWIK-2, potassium channel, two pore domain subfamily K, member 6,
• Gene location: 19q13.2 (38319844: 38332075)     Exons: 5     NC_000019.10
• Gene summary(Entrez): This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. This channel protein, considered an open rectifier, is widely expressed. It is stimulated by arachidonic acid, and inhibited by in
• OMIM: 611504

SNPs

rs12870438

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000013.11   g.42906069G>A
NC_000013.10   g.43480205G>A
NG_051573.1   g.91244C>T|SEQ=[G/A]|GENE=EPSTI1

Protein Summary

• Protein general information: Q9Y257  
  • Name: Potassium channel subfamily K member 6 (Inward rectifying potassium channel protein TWIK 2) (TWIK originated similarity sequence)
  • Length: 313  
  • Mass: 33747
  • Tissue specificity: Widespread expression, detected in all tissues tested except for skeletal muscle. Strongest expression in placenta, pancreas, heart, colon and spleen, lower levels detected in peripheral blood leukocytes, lung, liver, kidney and thymus
• Sequence:

  MRRGALLAGALAAYAAYLVLGALLVARLEGPHEARLRAELETLRAQLLQRSPCVAAPALDAFVERVLAAGRLGRV
  VLANASGSANASDPAWDFASALFFASTLITTVGYGYTTPLTDAGKAFSIAFALLGVPTTMLLLTASAQRLSLLLT
  HVPLSWLSMRWGWDPRRAACWHLVALLGVVVTVCFLVPAVIFAHLEEAWSFLDAFYFCFISLSTIGLGDYVPGEA
  PGQPYRALYKVLVTVYLFLGLVAMVLVLQTFRHVSDLHGLTELILLPPPCPASFNADEDDRVDILGPQPESHQQL
  SASSHTDYASIPR

• Structural information:
  • Interpro: IPR003280  IPR003092  IPR005408  IPR005409  IPR013099  
  • STRING: ENSP00000263372
• Other Databases: GeneCards:  KCNK6  Malacards:  KCNK6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0022841	potassium ion leak channel activity	IBA	molecular function
GO:0071805	potassium ion transmembrane transport	IBA	biological process
GO:0030322	stabilization of membrane potential	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0005267	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:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0005267	potassium channel activity	IEA	molecular function
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0006813	potassium ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
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:0061337	cardiac conduction	TAS	biological process
GO:0003085	negative regulation of systemic arterial blood pressure	IEA	biological process
GO:0003073	regulation of systemic arterial blood pressure	IEA	biological process
GO:0060075	regulation of resting membrane potential	IEA	biological process
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray