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Gene

cacnb4b

ID
ZDB-GENE-060421-7907
Name
calcium channel, voltage-dependent, beta 4b subunit
Symbol
cacnb4b Nomenclature History
Previous Names
  • CAB4b (1)
  • cacnb4.1 (1)
  • zgc:136550
Type
protein_coding_gene
Location
Chr: 6 Mapping Details/Browsers
Description
Enables 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 atrium; head; nervous system; pleuroperitoneal region; 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 cacnb4b 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 cacnb4b 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
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 subunit
UniProtKB:B0F0C7 184
UniProtKB:T2B3N4 472
UniProtKB:A2SZ58 489
UniProtKB:B0F0C6 489
UniProtKB:B0F0D1 523
UniProtKB:Q1RM19 96
UniProtKB:B0F0C8 150
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