CLCN7

Chloride channel 7 alpha subunit also known as H⁺/Cl⁻ exchange transporter 7 is a protein that in humans is encoded by the CLCN7 gene.^[5] In melanocytic cells this gene is regulated by the Microphthalmia-associated transcription factor.^[6][7]

CLCN7
Identifiers
Aliases	CLCN7, CLC-7, CLC7, OPTA2, OPTB4, PPP1R63, chloride voltage-gated channel 7, HOD
External IDs	OMIM: 602727; MGI: 1347048; HomoloGene: 56546; GeneCards: CLCN7; OMA:CLCN7 - orthologs
Gene location (Human) Chr. Chromosome 16 (human)[1] Band 16p13.3 Start 1,444,934 bp[1] End 1,475,084 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17 A3.3|17 12.53 cM Start 25,352,365 bp[2] End 25,381,078 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right adrenal cortex left adrenal cortex right hemisphere of cerebellum stromal cell of endometrium granulocyte right lobe of thyroid gland left lobe of thyroid gland spleen anterior pituitary right frontal lobe Top expressed in superior surface of tongue gallbladder ganglion of vagus nerve stroma of bone marrow neural layer of retina right kidney decidua entorhinal cortex perirhinal cortex ankle joint More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding ion channel activity antiporter activity ATP binding chloride channel activity voltage-gated chloride channel activity protein binding chloride transmembrane transporter activity transmembrane transporter activity Cellular component integral component of membrane lysosome cytoplasmic vesicle lysosomal membrane membrane nucleoplasm intracellular membrane-bounded organelle Biological process ion transmembrane transport chloride transport ion transport regulation of anion transmembrane transport response to pH transmembrane transport chloride transmembrane transport transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1186 26373 Ensembl ENSG00000103249 ENSMUSG00000036636 UniProt P51798 O70496 RefSeq (mRNA) NM_001114331 NM_001287 NM_011930 NM_001317404 RefSeq (protein) NP_001107803 NP_001278 NP_001304333 NP_036060 Location (UCSC) Chr 16: 1.44 – 1.48 Mb Chr 17: 25.35 – 25.38 Mb PubMed search [3] [4]
Wikidata
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Clinical significance

Mutations in the CLCN7 gene have been reported to be associated with autosomal dominant osteopetrosis type II, a rare disease of bones.^[8]

See also

• Chloride channel