Gene

cacna1eb

ID
ZDB-GENE-070705-133
Name
calcium channel, voltage-dependent, R type, alpha 1E subunit b
Symbol
cacna1eb Nomenclature History
Previous Names
  • si:ch211-241e1.2
Type
protein_coding_gene
Location
Chr: 2 Mapping Details/Browsers
Description
Predicted to have voltage-gated calcium channel activity. Predicted to be involved in calcium ion import and chemical synaptic transmission. Predicted to localize to voltage-gated calcium channel complex. Human ortholog(s) of this gene implicated in early infantile epileptic encephalopathy. Is expressed in atrium and cardiac ventricle. Orthologous to human CACNA1E (calcium voltage-gated channel subunit alpha1 E).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
1 figure from Haverinen et al., 2018
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
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 cacna1eb Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
developmental and epileptic encephalopathy 69 Alliance Developmental and epileptic encephalopathy 69 618285
Associated With cacna1eb Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR005821 Ion transport domain
Domain IPR014873 Voltage-dependent calcium channel, alpha-1 subunit, IQ domain
Domain IPR031649 Voltage-dependent L-type calcium channel, IQ-associated domain
Family IPR002077 Voltage-dependent calcium channel, 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, alpha-1 subunit, IQ domain Voltage-dependent channel domain superfamily Voltage-dependent L-type calcium channel, IQ-associated domain
UniProtKB:A8B6E8 2164
UniProtKB:A0A8M6Z0X5 2168
Transcripts
Genome Browsers
Type Name Annotation Method Length (nt) Analysis
mRNA cacna1eb-201 (1) Havana 7191 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