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CLCNKB

CLCNKB
Identifiers
AliasesCLCNKB, CLCKB, ClC-K2, ClC-Kb, chloride voltage-gated channel Kb
External IDsOMIM: 602023 MGI: 1329026 HomoloGene: 65 GeneCards: CLCNKB
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for CLCNKB
Genomic location for CLCNKB
Band1p36.13Start16,043,736 bp[1]
End16,057,308 bp[1]
RNA expression pattern
PBB GE CLCNKB 205985 x at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000085
NM_001165945

NM_001146307
NM_024412

RefSeq (protein)

NP_000076
NP_001159417

NP_001139779
NP_077723

Location (UCSC)Chr 1: 16.04 – 16.06 MbChr 4: 141.38 – 141.4 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Chloride channel Kb, also known as CLCNKB, is a protein which in humans is encoded by the CLCNKB gene.[5][6]

Chloride channel Kb (CLCNKB) is a member of the CLC family of voltage-gated chloride channels, which comprises at least 9 mammalian chloride channels.[7] Each is believed to have 12 transmembrane domains and intracellular N and C termini. Mutations in CLCNKB result in the autosomal recessive Type III Bartter syndrome.[8] CLCNKA and CLCNKB are closely related (94% sequence identity), tightly linked (separated by 11 kb of genomic sequence) and are both expressed in mammalian kidney.[5]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000184908 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000033770 - 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. ^ a b "Entrez Gene: CLCNKB chloride channel Kb".
  6. ^ Saito-Ohara F, Uchida S, Takeuchi Y, Sasaki S, Hayashi A, Marumo F, Ikeuchi T (September 1996). "Assignment of the genes encoding the human chloride channels, CLCNKA and CLCNKB, to 1p36 and of CLCN3 to 4q32-q33 by in situ hybridization". Genomics. 36 (2): 372–4. doi:10.1006/geno.1996.0479. PMID 8812470.
  7. ^ Jentsch TJ, Günther W (February 1997). "Chloride channels: an emerging molecular picture". BioEssays. 19 (2): 117–26. doi:10.1002/bies.950190206. PMID 9046241.
  8. ^ Krämer BK, Bergler T, Stoelcker B, Waldegger S (January 2008). "Mechanisms of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance". Nat Clin Pract Nephrol. 4 (1): 38–46. doi:10.1038/ncpneph0689. PMID 18094726.

Further reading

External links

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