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SLC12A6

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
SLC12A6
Identifiers
AliasesSLC12A6, ACCPN, KCC3, KCC3A, KCC3B, solute carrier family 12 member 6
External IDsOMIM:604878;MGI:2135960;HomoloGene:21069;GeneCards:SLC12A6;OMA:SLC12A6 - orthologs
Gene location (Human)
Chromosome 15 (human)
Chr.Chromosome 15 (human)[1]
Chromosome 15 (human)
Genomic location for SLC12A6
Genomic location for SLC12A6
Band15q14Start34,229,784bp[1]
End34,338,060bp[1]
Gene location (Mouse)
Chromosome 2 (mouse)
Chr.Chromosome 2 (mouse)[2]
Chromosome 2 (mouse)
Genomic location for SLC12A6
Genomic location for SLC12A6
Band2|2 E3Start112,096,170bp[2]
End112,193,508bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • blood

  • secondary oocyte

  • trabecular bone

  • sperm

  • mucosa of pharynx

  • monocyte

  • oral cavity

  • gums

  • pons

  • gingival epithelium
Top expressed in
  • granulocyte

  • neural layer of retina

  • transitional epithelium of urinary bladder

  • primary visual cortex

  • superior frontal gyrus

  • dentate gyrus of hippocampal formation granule cell

  • cerebellar cortex

  • spleen

  • blood

  • spermatocyte
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

9990

107723

Ensembl

ENSG00000140199

ENSMUSG00000027130

UniProt

Q9UHW9

Q924N4

RefSeq (mRNA)
NM_001042494
NM_001042495
NM_001042496
NM_001042497
NM_005135

NM_133647
NM_001365088

NM_133648
NM_133649
NM_001362700

RefSeq (protein)
NP_001035959
NP_001035960
NP_001035961
NP_001035962
NP_005126

NP_598408
NP_001352017

NP_598409
NP_598410
NP_001349629

Location (UCSC)Chr 15: 34.23 – 34.34 MbChr 2: 112.1 – 112.19 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Solute carrier family 12 member 6 is aprotein that in humans is encoded by theSLC12A6gene.[5][6][7]

This gene is a member of the K-Clcotransporter (KCC) family. K-Clcotransporters are integral membrane proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The proteins encoded by this gene are activated by cell swelling induced by hypotonic conditions. Alternate splicing results in multiple transcript variants encoding different isoforms, the most important ones being KCC3a and KCC3b. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy.[7]

See also

[edit]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000140199 –Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000027130 –Ensembl, May 2017
  3. ^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^Hiki K, D'Andrea RJ, Furze J, Crawford J, Woollatt E,Sutherland GR, Vadas MA, Gamble JR (May 1999)."Cloning, characterization, and chromosomal location of a novel human K+-Cl− cotransporter".J Biol Chem.274 (15):10661–7.doi:10.1074/jbc.274.15.10661.PMID 10187864.
  6. ^Mount DB, Mercado A, Song L, Xu J, George AL Jr, Delpire E, Gamba G (Jul 1999)."Cloning and characterization of KCC3 and KCC4, new members of the cation-chloride cotransporter gene family".J Biol Chem.274 (23):16355–62.doi:10.1074/jbc.274.23.16355.PMID 10347194.
  7. ^ab"Entrez Gene: SLC12A6 solute carrier family 12 (potassium/chloride transporters), member 6".

External links

[edit]

Further reading

[edit]

This article incorporates text from theUnited States National Library of Medicine, which is in thepublic domain.

By group
SLC1–10
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SLC11–20
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SLC21–30
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SLC31–40
(31):
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SLC41–48
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SLCO1–4
Symporter,Cotransporter
Antiporter (exchanger)


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