• Gene id: 3776

Gene Summary

• Gene Symbol: KCNK2   Gene   UCSC   Ensembl
• Aliases: K2p2.1, TPKC1, TREK, TREK-1, TREK1, hTREK-1c, hTREK-1e
• Gene name: potassium two pore domain channel subfamily K member 2
• Alternate names: potassium channel subfamily K member 2, K2P2.1 potassium channel, TREK-1 K(+) channel subunit, TWIK-related potassium channel 1, outward rectifying potassium channel protein TREK-1, potassium channel subfamily k member 2 variant 1, potassium channel subfamily k,
• Gene location: 1q41 (215002919: 215237092)     Exons: 13     NC_000001.11
• Gene summary(Entrez): This gene encodes one of the members of the two-pore-domain background potassium channel protein family. This type of potassium channel is formed by two homodimers that create a channel that leaks potassium out of the cell to control resting membrane pote
• OMIM: 603219

SNPs

rs28362491

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000004.12   g.102500998_102501001ATTG[1]
NC_000004.11   g.103422155_103422158ATTG[1]
NG_050628.1   g.4670_4673ATTG[1]|SEQ=[ATTG/-]|GENE=NFKB1
LOC105377621   105377621

Protein Summary

• Protein general information: O95069  
  • Name: Potassium channel subfamily K member 2 (Outward rectifying potassium channel protein TREK 1) (TREK 1 K(+) channel subunit) (Two pore domain potassium channel TREK 1) (Two pore potassium channel TPKC1)
  • Length: 426  
  • Mass: 47093
  • Tissue specificity: Isoform 4 is detected in kidney, adrenal gland and brain where it is preferentially expressed in the amygdala but not found in thalamus, hypothalamus, hippocampus or substantia nigra. {ECO
• Sequence:

  MLPSASRERPGYRAGVAAPDLLDPKSAAQNSKPRLSFSTKPTVLASRVESDTTINVMKWKTVSTIFLVVVLYLII
  GATVFKALEQPHEISQRTTIVIQKQTFISQHSCVNSTELDELIQQIVAAINAGIIPLGNTSNQISHWDLGSSFFF
  AGTVITTIGFGNISPRTEGGKIFCIIYALLGIPLFGFLLAGVGDQLGTIFGKGIAKVEDTFIKWNVSQTKIRIIS
  TIIFILFGCVLFVALPAIIFKHIEGWSALDAIYFVVITLTTIGFGDYVAGGSDIEYLDFYKPVVWFWILVGLAYF
  AAVLSMIGDWLRVISKKTKEEVGEFRAHAAEWTANVTAEFKETRRRLSVEIYDKFQRATSIKRKLSAELAGNHNQ
  ELTPCRRTLSVNHLTSERDVLPPLLKTESIYLNGLTPHCAGEEIAVIENIK

• Structural information:
  • Interpro: IPR003280  IPR003976  IPR013099  
  • PDB: 4TWK
  • PDBsum: 4TWK
  • STRING: ENSP00000394033
• Other Databases: GeneCards:  KCNK2  Malacards:  KCNK2

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:0015271	outward rectifier potassium channel activity	IBA	molecular function
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0005267	potassium channel activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005267	potassium channel activity	IEA	molecular function
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006813	potassium ion transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0042391	regulation of membrane potential	IEA	biological process
GO:0008076	voltage-gated potassium channel complex	IEA	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0006813	potassium ion transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005249	voltage-gated potassium channel activity	IEA	molecular function
GO:1900039	positive regulation of cellular response to hypoxia	IEA	biological process
GO:0097449	astrocyte projection	IEA	cellular component
GO:0090102	cochlea development	IEA	biological process
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0044305	calyx of Held	IEA	cellular component
GO:0043679	axon terminus	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0015271	outward rectifier potassium channel activity	IEA	molecular function
GO:0010942	positive regulation of cell death	IEA	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:2000279	negative regulation of DNA biosynthetic process	IEA	biological process
GO:0071456	cellular response to hypoxia	IEA	biological process
GO:0060044	negative regulation of cardiac muscle cell proliferation	IEA	biological process
GO:0048678	response to axon injury	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0022841	potassium ion leak channel activity	IEA	molecular function
GO:0009612	response to mechanical stimulus	IEA	biological process
GO:0007613	memory	IEA	biological process
GO:0003231	cardiac ventricle development	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0071805	potassium ion transmembrane transport	ISS	biological process
GO:0022841	potassium ion leak channel activity	ISS	molecular function
GO:0015271	outward rectifier potassium channel activity	ISS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04934	Cushing syndrome
hsa04971	Gastric acid secretion
hsa04927	Cortisol synthesis and secretion

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R