Gene

cacna1hb

ID
ZDB-GENE-090312-128
Name
calcium channel, voltage-dependent, T type, alpha 1H subunit b
Symbol
cacna1hb Nomenclature History
Previous Names
  • si:ch211-201p7.4
  • si:ch211-22n13.1
Type
protein_coding_gene
Location
Chr: 1 Mapping Details/Browsers
Description
Predicted to have low voltage-gated calcium channel activity and voltage-gated sodium channel activity. Predicted to be involved in several processes, including calcium ion import; neuronal action potential; and positive regulation of calcium ion-dependent exocytosis. Predicted to localize to neuron projection and voltage-gated sodium channel complex. Is expressed in atrium and cardiac ventricle. Human ortholog(s) of this gene implicated in childhood absence epilepsy and primary hyperaldosteronism. Orthologous to human CACNA1H (calcium voltage-gated channel subunit alpha1 H).
Genome Resources
Note
None
Expression
All Expression Data
Fig. 2 from Haverinen et al., 2018
Cross-Species Comparison
High Throughput Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With cacna1hb Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Hyperaldosteronism, familial, type IV 617027
{Epilepsy, childhood absence, susceptibility to, 6} 611942
{Epilepsy, idiopathic generalized, susceptibility to, 6} 611942
Associated With cacna1hb Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR005821 Ion transport domain
Family IPR002077 Voltage-dependent calcium channel, alpha-1 subunit
Family IPR005445 Voltage-dependent calcium channel, T-type, alpha-1 subunit
Homologous_superfamily IPR027359 Voltage-dependent channel domain superfamily
Domain Details Per Protein
Protein Length Ion transport domain Voltage-dependent calcium channel, alpha-1 subunit Voltage-dependent calcium channel, T-type, alpha-1 subunit Voltage-dependent channel domain superfamily
UniProtKB:A0A0R4IRK8 1681
UniProtKB:A0A0R4IDH2 1595
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