ZFIN ID: ZDB-GENE-091113-15
Gene Name: chloride channel, voltage-sensitive 5a
Gene Symbol: clcn5a    Nomenclature History

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Previous Name: si:dkey-22f5.8

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(Including Attributions)
Gene 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. Is expressed in several structures, including eye; gill; heart; muscle; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in Dent disease; 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: Alliance (1),  Ensembl(GRCz11):ENSDARG00000019693 (2)
GENE EXPRESSION
All Expression Data: Fig. 2 from Wang et al., 2015
Wild-type Stages, Structures: Adult (90d-730d, breeding adult) to Adult (90d-730d, breeding adult)
 
MUTATIONS AND SEQUENCE TARGETING REAGENTS No data available
PHENOTYPE No data available
DISEASE ASSOCIATED WITH clcn5a HUMAN ORTHOLOG
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Dent disease Alliance Dent disease 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
DISEASE ASSOCIATED WITH clcn5a VIA EXPERIMENTAL MODELS No data available
GENE ONTOLOGY
Ontology GO Term
Biological Process chloride transport (more)
Cellular Component integral component of membrane (more)
Molecular Function voltage-gated chloride channel activity (more)
GO Terms (all 16)
PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
TRANSCRIPTS
Type Name Length (nt) Analysis
mRNA clcn5a-201 (1)    Ensembl 2636
clcn5a-202 (1)    Ensembl 2390
Browsers: NCBIEnsemblZFIN
INTERACTIONS AND PATHWAYS
ANTIBODIES No data available
PLASMIDS No data available
CONSTRUCTS WITH SEQUENCES FROM clcn5a No data available
MARKER RELATIONSHIPS
clcn5a Contained in: [BAC] DKEY-22F5 (1) (order this)
SEQUENCE INFORMATION
Type Accession # Length (nt/aa) Analysis
Genomic GenBank:BX511168 (1) 263757 nt Blast at MegaBLAST
Polypeptide UniProtKB:X1WEF7 (1) 811 aa
Sequence Information (all 4)
ORTHOLOGY for clcn5a ( Chr: 21 )
CITATIONS (14)