ZFIN is now using GRCz12tu for Genomic Data
Gene
clcn5a
- ID
- ZDB-GENE-091113-15
- Name
- Cl-/H+ antiporter 5a
- Symbol
- clcn5a Nomenclature History
- Previous Names
-
- si:dkey-22f5.8
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable voltage-gated chloride channel activity. Predicted to act upstream of or within chloride transport and transmembrane transport. Predicted to be located in endosome and membrane. Predicted to be active in several cellular components, including cytoplasmic vesicle; endoplasmic reticulum membrane; and lysosomal membrane. Is expressed in several structures, including eye; gill; heart; muscle; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in Dent disease 1; X-linked nephrolithiasis type I; X-linked recessive hypophosphatemic rickets; and low molecular weight proteinuria with hypercalciuric nephrocalcinosis. Orthologous to human CLCN5 (Cl-/H+ antiporter 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 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 | Additional Resources | Length | CBS domain | CBS domain superfamily | Chloride channel | Chloride channel, core |
|---|---|---|---|---|---|---|
| UniProtKB:X1WEF7 | InterPro | 811 |
- Genome Browsers
| 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
- Genome Browsers