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Gene

cacnb4a

ID
ZDB-GENE-080320-2
Name
calcium channel, voltage-dependent, beta 4a subunit
Symbol
cacnb4a Nomenclature History
Previous Names
  • CAB4a (1)
  • cacnb4.2 (1)
Type
protein_coding_gene
Location
Chr: 9 Mapping Details/Browsers
Description
Predicted to enable high voltage-gated calcium channel activity. Acts upstream of or within epiboly involved in gastrulation with mouth forming second. Predicted to be part of voltage-gated calcium channel complex. Is expressed in several structures, including cardiovascular system; nervous system; pleuroperitoneal region; presumptive neural retina; and spinal cord neural tube. Human ortholog(s) of this gene implicated in dilated cardiomyopathy; episodic ataxia; episodic ataxia type 5; and idiopathic generalized epilepsy 9. Orthologous to human CACNB4 (calcium voltage-gated channel auxiliary subunit beta 4).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
5 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
2 figures from Ebert et al., 2008
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With cacnb4a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
episodic ataxia type 5 Alliance Episodic ataxia, type 5 613855
idiopathic generalized epilepsy 9 Alliance {Epilepsy, idiopathic generalized, susceptibility to, 9} 607682
idiopathic generalized epilepsy 9 Alliance {Epilepsy, juvenile myoclonic, susceptibility to, 6} 607682
Associated With cacnb4a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR001452 SH3 domain
Domain IPR008145 Guanylate kinase/L-type calcium channel beta subunit
Family IPR000584 Voltage-dependent calcium channel, L-type, beta subunit
Family IPR008079 Voltage-dependent calcium channel, L-type, beta-3 subunit
Homologous_superfamily IPR027417 P-loop containing nucleoside triphosphate hydrolase
Homologous_superfamily IPR036028 SH3-like domain superfamily
Domain Details Per Protein
Protein Length Guanylate kinase/L-type calcium channel beta subunit P-loop containing nucleoside triphosphate hydrolase SH3 domain SH3-like domain superfamily Voltage-dependent calcium channel, L-type, beta-3 subunit Voltage-dependent calcium channel, L-type, beta subunit
UniProtKB:A8WHZ5 485
UniProtKB:A2SZ57 485
UniProtKB:A8WHZ4 498
UniProtKB:B0F0D0 519
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