Gene

cacnb2a

ID
ZDB-GENE-080808-7
Name
calcium channel, voltage-dependent, beta 2a
Symbol
cacnb2a Nomenclature History
Previous Names
  • CAB2b.1 (1)
  • CACNB2.1 (1)
  • cacnb2b (1)
Type
protein_coding_gene
Location
Chr: 7 Mapping Details/Browsers
Description
Predicted to have high voltage-gated calcium channel activity. Involved in embryonic heart tube morphogenesis; glial cell development; and retina development in camera-type eye. Predicted to localize to voltage-gated calcium channel complex. Is expressed in several structures, including heart; integument; liver; nervous system; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in Brugada syndrome 4; hypertension; and hypertrophic cardiomyopathy. Orthologous to human CACNB2 (calcium voltage-gated channel auxiliary subunit beta 2).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
4 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
11 figures from 3 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With cacnb2a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Brugada syndrome 4 Alliance Brugada syndrome 4 611876
Associated With cacnb2a 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
Domain IPR035605 CACNB2, SH3 domain
Domain IPR046937 Voltage-dependent L-type calcium channel subunit beta-1-4, N-terminal A domain
Family IPR000584 Voltage-dependent calcium channel, L-type, beta subunit
Family IPR005444 Voltage-dependent calcium channel, L-type, beta-2 subunit
Homologous_superfamily IPR027417 P-loop containing nucleoside triphosphate hydrolase
Homologous_superfamily IPR036028 SH3-like domain superfamily
Domain Details Per Protein
Protein Length CACNB2, SH3 domain 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-2 subunit Voltage-dependent calcium channel, L-type, beta subunit Voltage-dependent L-type calcium channel subunit beta-1-4, N-terminal A domain
UniProtKB:A2SZ54 598
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
aberrant processed transcript cacnb2a-203 (1) Ensembl 1,929 nt
aberrant processed transcript cacnb2a-204 (1) Ensembl 2,207 nt
aberrant processed transcript cacnb2a-207 (1) Ensembl 2,432 nt
aberrant processed transcript cacnb2a-208 (1) Ensembl 2,206 nt
mRNA cacnb2a-201 (1) Ensembl 1,943 nt
mRNA cacnb2a-202 (1) Ensembl 1,795 nt
mRNA cacnb2a-205 (1) Ensembl 1,909 nt
mRNA cacnb2a-206 (1) Ensembl 4,132 nt
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