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

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

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 InterPro	598

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
aberrant processed transcript	cacnb2a-203 (1) Ensembl	Ensembl	1,929 nt	Select Tool
aberrant processed transcript	cacnb2a-204 (1) Ensembl	Ensembl	2,207 nt	Select Tool
aberrant processed transcript	cacnb2a-207 (1) Ensembl	Ensembl	2,432 nt	Select Tool
aberrant processed transcript	cacnb2a-208 (1) Ensembl	Ensembl	2,206 nt	Select Tool
mRNA	cacnb2a-201 (1) Ensembl	Ensembl	1,943 nt	Select Tool
mRNA	cacnb2a-202 (1) Ensembl	Ensembl	1,795 nt	Select Tool
mRNA	cacnb2a-205 (1) Ensembl	Ensembl	1,909 nt	Select Tool
mRNA	cacnb2a-206 (1) Ensembl	Ensembl	4,132 nt	Select Tool

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