Gene

clcn5b

ID
ZDB-GENE-110407-11
Name
chloride channel, voltage-sensitive 5b
Symbol
clcn5b Nomenclature History
Previous Names
  • clcn5
  • si:dkey-171c9.2
Type
protein_coding_gene
Location
Chr: 7 Mapping Details/Browsers
Description
Predicted to have chloride ion binding activity; solute:proton antiporter activity; and voltage-gated chloride channel activity. Predicted to be involved in chloride transport and transmembrane transport. Predicted to localize to Golgi apparatus; cytoplasmic vesicle; and integral component of plasma membrane. Human ortholog(s) of this gene implicated in Dent disease and X-linked recessive hypophosphatemic rickets. Is expressed in several structures, including eye; gill; heart; liver; and pleuroperitoneal region. Orthologous to human CLCN5 (chloride voltage-gated channel 5).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
1 figure from Wang et al., 2015
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With clcn5b Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Dent disease Alliance Dent disease 1 300009
low molecular weight proteinuria with hypercalciuric nephrocalcinosis Alliance Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 308990
X-linked nephrolithiasis type I Alliance Nephrolithiasis, type I 310468
X-linked recessive hypophosphatemic rickets Alliance Hypophosphatemic rickets 300554
Associated With clcn5b Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000644 CBS domain
Family IPR001807 Chloride channel, voltage gated
Homologous_superfamily IPR014743 Chloride channel, core
Domain Details Per Protein
Protein Length CBS domain Chloride channel, core Chloride channel, voltage gated
UniProtKB:E7FFG9 811
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations