Gene
clcn5a
- ID
- ZDB-GENE-091113-15
- Name
- chloride channel, voltage-sensitive 5a
- Symbol
- clcn5a Nomenclature History
- Previous Names
-
- si:dkey-22f5.8
- Type
- protein_coding_gene
- Location
- Chr: 21 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; muscle; and pleuroperitoneal region. Orthologous to human CLCN5 (chloride voltage-gated channel 5).
- Genome Resources
- Note
- None
- Comparative Information
-
- 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
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Dent disease | Alliance | Dent disease 1 | 300009 |
| Dent disease 1 | 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 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | CBS domain | CBS domain superfamily | Chloride channel, core | Chloride channel, voltage gated |
|---|---|---|---|---|---|
|
UniProtKB:X1WEF7
|
811 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
clcn5a-201
(1)
|
Ensembl | 2,636 nt | ||
| mRNA |
clcn5a-202
(1)
|
Ensembl | 2,390 nt | ||
| mRNA |
clcn5a-203
(1)
|
Ensembl | 7,443 nt |
Interactions and Pathways
No data available
Plasmids
No data available