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 enable voltage-gated chloride channel activity. Predicted to act upstream of or within chloride transport and transmembrane transport. Predicted to be located in endosome membrane. Predicted to be active in Golgi apparatus; cytoplasmic vesicle; and plasma 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 (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
No data available
No data available
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 |
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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 |
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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 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Contained in | BAC | DKEY-22F5 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:XM_001920748 (1) | 3913 nt | ||
Genomic | GenBank:BX511168 (1) | 245435 nt | ||
Polypeptide | UniProtKB:X1WEF7 (1) | 811 aa |
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Wang, Y.F., Yan, J.J., Tseng, Y.C., Chen, R.D., Hwang, P.P. (2015) Molecular Physiology of an Extra-renal Cl(-) Uptake Mechanism for Body Fluid Cl(-) Homeostasis. International journal of biological sciences. 11:1190-203
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