chloride voltage-gated channel Kb

Summary
Gene Symbol
  • CLCNKB
Organism
Homo sapiens (human)
NCBI Gene
1188
PubChem
1188
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Bartter syndrome
  • CBS domain
  • Calcium
  • Cell membrane
  • Chloride
  • Chloride channel
  • Deafness
  • Disease variant
  • Glycoprotein
  • Metal-binding
  • Reference proteome
  • Repeat
  • Transmembrane helix
  • Voltage-gated channel
Proteins
Displaying all 2 entries
UniProt Protein Name
P51801
  • ClC-K2
A8K8H0
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
Chloride Channel
Functional Category
  • E: Amino acid transport and metabolism
  • P: Inorganic ion transport and metabolism
  • T: Signal transduction mechanisms
Disease
Disease Ontology
Displaying all 7 entries
DO ID Disease Name Source
DOID:0050450 Gitelman syndrome
DOID:0110144 Bartter disease type 3
DOID:0110146 Bartter disease type 4b
DOID:10763 hypertension
DOID:12387 nephrogenic diabetes insipidus
DOID:423 myopathy
DOID:445 Bartter disease

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024