Gene

cacna2d4b

ID

ZDB-GENE-100422-18

Name

calcium channel, voltage-dependent, alpha 2/delta subunit 4b

Symbol

cacna2d4b Nomenclature History

Previous Names

None

Type

protein_coding_gene

Location

Chr: 25 Mapping Details/Browsers

Description

Predicted to enable voltage-gated calcium channel activity. Acts upstream of or within retinal cone cell development. Predicted to be located in membrane. Predicted to be part of voltage-gated calcium channel complex. Is expressed in cerebellum; retinal inner nuclear layer; and retinal outer nuclear layer. Human ortholog(s) of this gene implicated in retinal cone dystrophy 4. Orthologous to human CACNA2D4 (calcium voltage-gated channel auxiliary subunit alpha2delta 4).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

4 figures from 4 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: 3 figures from Schlegel et al., 2019
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With cacna2d4b Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
retinal cone dystrophy 4	Alliance	Retinal cone dystrophy 4	610478

Associated With cacna2d4b Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR013608	VWA N-terminal
Family	IPR051173	Voltage-dependent calcium channel subunit alpha-2/delta

Domain Details Per Protein

Protein	Additional Resources	Length
UniProtKB:A0A8M9PN85	InterPro	1094
UniProtKB:A0A8M9PEF2	InterPro	224
UniProtKB:A0A8M3AZP4	InterPro	1100
UniProtKB:A0A8M9PYY9	InterPro	1093
UniProtKB:A0AB32TE66	InterPro	1100
UniProtKB:A0AB32TF73	InterPro	1094
UniProtKB:A0AB32TJX8	InterPro	1093

Transcripts

Genome Browsers

NCBI

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	cacna2d4b-201 (1) Ensembl	Ensembl	3,916 nt	Select Tool ZFIN BLAST
mRNA	cacna2d4b-202 (1) Ensembl	Ensembl	3,603 nt	Select Tool ZFIN BLAST
mRNA	cacna2d4b-203 (1) Ensembl	Ensembl	2,283 nt	Select Tool ZFIN BLAST
mRNA	cacna2d4b-204 (1) Ensembl	Ensembl	2,537 nt	Select Tool ZFIN BLAST

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