Gene

cacnb2b

ID
ZDB-GENE-050208-129
Name
calcium channel, voltage-dependent, beta 2b
Symbol
cacnb2b Nomenclature History
Previous Names
  • CAB2a (1)
  • CACNB2.2 (1)
  • cacnb2a (1)
  • im:7141271
  • si:dkey-32m20.2
Type
protein_coding_gene
Location
Chr: 2 Mapping Details/Browsers
Description
Predicted to have high voltage-gated calcium channel activity. Predicted to be involved in chemical synaptic transmission; neuromuscular junction development; and regulation of voltage-gated calcium channel activity. 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
Expression
All Expression Data
9 figures from 4 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
Fig. S4 from Thyme et al., 2019
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With cacnb2b Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Brugada syndrome 4 Alliance Brugada syndrome 4 611876
Associated With cacnb2b 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:E7EYY0 367
UniProtKB:A2SZ53 377
UniProtKB:C9VXY1 439
UniProtKB:B2XY80 449
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations