CLCN6

Protein-coding gene in the species Homo sapiens
CLCN6
Identifiers
AliasesCLCN6, CLC-6, chloride voltage-gated channel 6, CONRIBA
External IDsOMIM: 602726; MGI: 1347049; HomoloGene: 985; GeneCards: CLCN6; OMA:CLCN6 - orthologs
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for CLCN6
Genomic location for CLCN6
Band1p36.22Start11,806,096 bp[1]
End11,848,079 bp[1]
Gene location (Mouse)
Chromosome 4 (mouse)
Chr.Chromosome 4 (mouse)[2]
Chromosome 4 (mouse)
Genomic location for CLCN6
Genomic location for CLCN6
Band4 E1|4 78.67 cMStart148,088,716 bp[2]
End148,123,278 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • anterior pituitary

  • sural nerve

  • middle temporal gyrus

  • prefrontal cortex

  • cingulate gyrus

  • frontal pole

  • hypothalamus

  • Brodmann area 9

  • Brodmann area 10

  • right uterine tube
Top expressed in
  • substantia nigra

  • retinal pigment epithelium

  • supraoptic nucleus

  • medial vestibular nucleus

  • superior frontal gyrus

  • anterior horn of spinal cord

  • dorsal tegmental nucleus

  • ventral tegmental area

  • cerebellar cortex

  • dorsomedial hypothalamic nucleus
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • nucleotide binding
  • ion channel activity
  • ATP binding
  • antiporter activity
  • voltage-gated chloride channel activity
  • protein binding
  • chloride transmembrane transporter activity
  • transmembrane transporter activity
Cellular component
  • integral component of membrane
  • lysosomal membrane
  • endosome
  • endosome membrane
  • membrane
  • intracellular membrane-bounded organelle
Biological process
  • cell volume homeostasis
  • response to mechanical stimulus
  • chloride transport
  • ion transmembrane transport
  • ion transport
  • signal transduction
  • regulation of anion transmembrane transport
  • transmembrane transport
  • chloride transmembrane transport
  • transport
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

1185

26372

Ensembl

ENSG00000011021

ENSMUSG00000029016

UniProt

P51797

O35454

RefSeq (mRNA)

NM_001256959
NM_001286
NM_021735
NM_021736
NM_021737

NM_011929

RefSeq (protein)

NP_001243888
NP_001277

NP_036059

Location (UCSC)Chr 1: 11.81 – 11.85 MbChr 4: 148.09 – 148.12 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Chloride transport protein 6 is a protein that in humans is encoded by the CLCN6 gene.[5][6]

The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. Chloride channel 6 and 7 belong to a subbranch of this family. Chloride channel 6 has four different alternatively spliced transcript variants. This gene is in close vicinity to two other kidney-specific chloride channel genes, CLCNKA and CLCNKB.[6]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000011021 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029016 – 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. ^ Brandt S, Jentsch TJ (Feb 1996). "ClC-6 and ClC-7 are two novel broadly expressed members of the CLC chloride channel family". FEBS Lett. 377 (1): 15–20. doi:10.1016/0014-5793(95)01298-2. PMID 8543009. S2CID 717696.
  6. ^ a b "Entrez Gene: CLCN6 chloride channel 6".

Further reading

  • Nakajima D, Okazaki N, Yamakawa H, et al. (2003). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones". DNA Res. 9 (3): 99–106. doi:10.1093/dnares/9.3.99. PMID 12168954.
  • Nomura N, Nagase T, Miyajima N, et al. (1995). "Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1". DNA Res. 1 (5): 223–9. doi:10.1093/dnares/1.5.223. PMID 7584044.
  • Eggermont J, Buyse G, Voets T, et al. (1997). "Alternative splicing of ClC-6 (a member of the CIC chloride-channel family) transcripts generates three truncated isoforms one of which, ClC-6c, is kidney-specific". Biochem. J. 325 (Pt 1): 269–76. doi:10.1042/bj3250269. PMC 1218554. PMID 9224655.
  • Eggermont J (1998). "The exon-intron architecture of human chloride channel genes is not conserved". Biochim. Biophys. Acta. 1397 (2): 156–60. doi:10.1016/s0167-4781(98)00014-1. PMID 9565675.
  • Lamb FS, Clayton GH, Liu BX, et al. (1999). "Expression of CLCN voltage-gated chloride channel genes in human blood vessels". J. Mol. Cell. Cardiol. 31 (3): 657–66. doi:10.1006/jmcc.1998.0901. PMID 10198195.
  • Kornak U, Bösl MR, Kubisch C (1999). "Complete genomic structure of the CLCN6 and CLCN7 putative chloride channel genes(1)". Biochim. Biophys. Acta. 1447 (1): 100–6. doi:10.1016/s0167-4781(99)00128-1. PMID 10500249.
  • Lamb FS, Graeff RW, Clayton GH, et al. (2001). "Ontogeny of CLCN3 chloride channel gene expression in human pulmonary epithelium". Am. J. Respir. Cell Mol. Biol. 24 (4): 376–81. doi:10.1165/ajrcmb.24.4.4114. PMID 11306429.
  • Tran P, Leclerc D, Chan M, et al. (2003). "Multiple transcription start sites and alternative splicing in the methylenetetrahydrofolate reductase gene result in two enzyme isoforms". Mamm. Genome. 13 (9): 483–92. doi:10.1007/s00335-002-2167-6. PMID 12370778. S2CID 19722541.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
  • Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. Bibcode:2006Natur.441..315G. doi:10.1038/nature04727. PMID 16710414.

External links

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

  • v
  • t
  • e
Ligand-gated
Voltage-gated
Constitutively active
Proton-gated
Voltage-gated
Calcium-activated
Inward-rectifier
Tandem pore domain
Voltage-gated
Miscellaneous
Cl: Chloride channel
H+: Proton channel
M+: CNG cation channel
M+: TRP cation channel
H2O (+ solutes): Porin
Cytoplasm: Gap junction
By gating mechanism
Ion channel class
see also disorders


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