Contents

SLC12A6

Protein-coding gene in the species Homo sapiens

SLC12A6
Identifiers
Aliases	SLC12A6, ACCPN, KCC3, KCC3A, KCC3B, solute carrier family 12 member 6
External IDs	OMIM: 604878; MGI: 2135960; HomoloGene: 21069; GeneCards: SLC12A6; OMA:SLC12A6 - orthologs
Gene location (Human) Chr. Chromosome 15 (human)[1] Band 15q14 Start 34,229,784 bp[1] End 34,338,060 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 E3 Start 112,096,170 bp[2] End 112,193,508 bp[2]
RNA expression pattern Bgee Human Mouse (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 cation:chloride symporter activity transporter activity potassium ion transmembrane transporter activity symporter activity protein kinase binding potassium:chloride symporter activity Cellular component integral component of membrane membrane plasma membrane integral component of plasma membrane basolateral plasma membrane Biological process cellular hypotonic salinity response cellular hypotonic response chloride transmembrane transport ion transport potassium ion transport angiogenesis chemical synaptic transmission potassium ion transmembrane transport transmembrane transport cell volume homeostasis chloride ion homeostasis potassium ion homeostasis potassium ion import across plasma membrane Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb Chr 2: 112.1 – 112.19 Mb PubMed search [3] [4]
Wikidata
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Solute carrier family 12 member 6 is a protein that in humans is encoded by the SLC12A6 gene.^[5][6][7]

This gene is a member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters 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]

• Solute carrier family

• GeneReview/NIH/UW entry on Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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