• Gene id: 343450

Gene Summary

• Gene Symbol: KCNT2   Gene   UCSC   Ensembl
• Aliases: EIEE57, KCa4.2, SLICK, SLO2.1
• Gene name: potassium sodium-activated channel subfamily T member 2
• Alternate names: potassium channel subfamily T member 2, potassium channel, subfamily T, member 2, sequence like an intermediate conductance potassium channel subunit, sodium and chloride-activated ATP-sensitive potassium channel Slo2.1, sodium-and chloride-activated ATP-sens,
• Gene location: 1q31.3 (196608559: 196225778)     Exons: 35     NC_000001.11
• OMIM: 610044

Protein Summary

• Protein general information: Q6UVM3  
  • Name: Potassium channel subfamily T member 2 (Sequence like an intermediate conductance potassium channel subunit) (Sodium and chloride activated ATP sensitive potassium channel Slo2.1)
  • Length: 1135  
  • Mass: 130501
• Sequence:

  MVDLESEVPPLPPRYRFRDLLLGDQGWQNDDRVQVEFYMNENTFKERLKLFFIKNQRSSLRIRLFNFSLKLLSCL
  LYIIRVLLENPSQGNEWSHIFWVNRSLPLWGLQVSVALISLFETILLGYLSYKGNIWEQILRIPFILEIINAVPF
  IISIFWPSLRNLFVPVFLNCWLAKHALENMINDLHRAIQRTQSAMFNQVLILISTLLCLIFTCICGIQHLERIGK
  KLNLFDSLYFCIVTFSTVGFGDVTPETWSSKLFVVAMICVALVVLPIQFEQLAYLWMERQKSGGNYSRHRAQTEK
  HVVLCVSSLKIDLLMDFLNEFYAHPRLQDYYVVILCPTEMDVQVRRVLQIPMWSQRVIYLQGSALKDQDLLRAKM
  DDAEACFILSSRCEVDRTSSDHQTILRAWAVKDFAPNCPLYVQILKPENKFHIKFADHVVCEEEFKYAMLALNCI
  CPATSTLITLLVHTSRGQEGQQSPEQWQKMYGRCSGNEVYHIVLEESTFFAEYEGKSFTYASFHAHKKFGVCLIG
  VRREDNKNILLNPGPRYIMNSTDICFYINITKEENSAFKNQDQQRKSNVSRSFYHGPSRLPVHSIIASMGTVAID
  LQDTSCRSASGPTLSLPTEGSKEIRRPSIAPVLEVADTSSIQTCDLLSDQSEDETTPDEEMSSNLEYAKGYPPYS
  PYIGSSPTFCHLLHEKVPFCCLRLDKSCQHNYYEDAKAYGFKNKLIIVAAETAGNGLYNFIVPLRAYYRPKKELN
  PIVLLLDNPPDMHFLDAICWFPMVYYMVGSIDNLDDLLRCGVTFAANMVVVDKESTMSAEEDYMADAKTIVNVQT
  LFRLFSSLSIITELTHPANMRFMQFRAKDCYSLALSKLEKKERERGSNLAFMFRLPFAAGRVFSISMLDTLLYQS
  FVKDYMISITRLLLGLDTTPGSGFLCSMKITADDLWIRTYARLYQKLCSSTGDVPIGIYRTESQKLTTSESQISI
  SVEEWEDTKDSKEQGHHRSNHRNSTSSDQSDHPLLRRKSMQWARRLSRKGPKHSGKTAEKITQQRLNLYRRSERQ
  ELAELVKNRMKHLGLSTVGYDEMNDHQSTLSYILINPSPDTRIELNDVVYLIRPDPLAYLPNSEPSRRNSICNVT
  GQDSREETQL

• Structural information:
  • Protein Domains: (422..54-)
    (/note="RCK-N-terminal")
  • Interpro: IPR003929  IPR013099  IPR036291  
  • STRING: ENSP00000294725
• Other Databases: GeneCards:  KCNT2  Malacards:  KCNT2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IBA	cellular component
GO:0015271	outward rectifier potassium channel activity	IBA	molecular function
GO:0016021	integral component of membrane	IBA	cellular component
GO:0005228	intracellular sodium activated potassium channel activity	IBA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0097623	potassium ion export across plasma membrane	IMP	biological process
GO:0070089	chloride-activated potassium channel activity	IMP	molecular function
GO:0006813	potassium ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005267	potassium channel activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0006813	potassium ion transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0097623	potassium ion export across plasma membrane	IEA	biological process
GO:0070089	chloride-activated potassium channel activity	IEA	molecular function
GO:0005267	potassium channel activity	IEA	molecular function
GO:0006813	potassium ion transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Early infantile epileptic encephalopathy	KEGG:H00606
Early infantile epileptic encephalopathy	KEGG:H00606
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881