CACNA2D4 - calcium voltage-gated channel auxiliary subunit alpha2delta 4 Gene

Also Known as RCD4

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 93589

About CACNA2D4

Cytogenetic location: 12p13.33 Genomic coordinates (GRCh38): 12:1,791,963-1,918,652 (from NCBI)

This gene has 26 transcripts (splice variants), 1 gene allele, 313 orthologues, 4 paralogues and is associated with 4 phenotypes. Broad expression in testis (RPKM 1.1), appendix (RPKM 1.0) and 24 other tissues.

Summary

This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent Calcium Channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]

CACNA2D4 Products (1)

mRNA Protein Name
NM_172364.5 NP_758952.4 voltage-dependent calcium channel subunit alpha-2/delta-4

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Verweise Source
enables voltage-gated calcium channel activity IDA
IDA: Inferred from direct assay
12181424 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in calcium ion transmembrane transport IDA
IDA: Inferred from direct assay
12181424 GOA
involved in detection of light stimulus involved in visual perception IMP
IMP: Inferred from mutant phenotype
17033974 GOA
Cellular Component GO Annotation Evidence Verweise Source
part of voltage-gated calcium channel complex IDA
IDA: Inferred from direct assay
12181424 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CACNA2D4 Protein Structure

VWA_N

VWA_N: VWA N-terminal (148 - 264)

VWA_3

VWA_3: von Willebrand factor type A domain (291 - 453)

dCache_1

dCache_1: Cache domain (487 - 579)

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  • 1137 a.a.
Protein Preferred Names Protein Names

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

  • alpha2delta-4

Related Diseases

Diseases Alias
Retinal Cone Dystrophy 4

  • RCD4

  • Doid:0081023

  • Dystrophy, Retinal Cone, Type 4
Cone-Rod Dystrophy 2

  • Cone-Rod Dystrophy

  • CORD2

  • Cone-Rod Retinal Dystrophy

  • Rcrd2

  • Cone-Rod Retinal Dystrophy 2

  • Crd2

  • Cord

  • Crd

  • Retinal Cone-Rod Dystrophy

  • Cone-Rod Retinal Dystrophy-2

  • Retinal Cone-Rod Dystrophy 2

  • Tapetoretinal Degeneration

  • Cone-Rod Degeneration

  • Cone Rod Dystrophy

  • Dystrophy, Cone-Rod

  • Dystrophy, Cone-Rod, Type 2

  • Retinitis Pigmentosa

  • Retinitis Pigmentosa 2

  • Progressive Cone-Rod Dystrophy
Retinitis Pigmentosa

  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1
Cone Dystrophy

  • Retinal Cone Dystrophy

  • Dystrophy, Cone

  • Cone Dystrophy 3
Congenital Stationary Night Blindness

  • Night Blindness, Congenital Stationary

  • Congenital Essential Nyctalopia

  • Oguchi Disease

  • Blindness, Night, Stationary, Congenital
Progressive Cone Dystrophy

  • Cone Dystrophy

  • Cone Dystrophy Progressive
Eye Disease

  • Eye Diseases

  • Abnormality Of The Eye

  • Toxoplasma Oculopathy
Cone Dystrophy 4

  • Achromatopsia 5

  • COD4

  • ACHM5

  • Dystrophy, Cone, Type 4
Brugada Syndrome 4

  • BRGDA4

  • Brugada Syndrome, Type 4
Cone-Rod Dystrophy, X-Linked, 3

  • CORDX3

  • X-Linked Cone-Rod Dystrophy 3

  • Cone-Rod Dystrophy X-Linked 3

  • Cone-Rod Dystrophy, X-Linked 3

  • Dystrophy, Cone-Rod, X-Linked, Type 3
Abnormal Threshold Of Rods

  • Abnormal Dark Adaptation Curve
Cone-Rod Dystrophy 6

  • CORD6

  • Retinal Cone Dystrophy 2

  • Rcd2

  • Dystrophy, Cone-Rod, Type 6

  • Retinitis Pigmentosa 6

  • Progressive Cone Degeneration

  • Cone Dystrophy
Cerebellar Ataxia Type 42

  • Sca42
Spondylometaphyseal Dysplasia, Axial

  • Axial Spondylometaphyseal Dysplasia

  • SMDAX

  • Axial Smd

  • Smd Axial

  • Smd, Axial

  • Spondylometaphyseal Dysplasia Axial Type

  • Dysplasia, Spondylometaphyseal, Axial
Cone-Rod Dystrophy 16

  • Retinitis Pigmentosa 64

  • Retinal Dystrophy With Early Macular Involvement

  • CORD16

  • RP64
Arrhythmogenic Right Ventricular Cardiomyopathy

  • Arrhythmogenic Right Ventricular Dysplasia

  • Arvc

  • Arvd

  • Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

  • Arvc Cardiomyopathy

  • Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia

  • Arvd/C

  • Right Ventricular Dysplasia, Arrhythmogenic

  • Ventricular Dysplasia, Right, Arrhythmogenic

  • Cardiomyopathy, Ventricular, Right, Arrhythmogenic

  • Dysplasia, Arrhythmogenic Right Ventricular
Familial Atrial Fibrillation

  • Atrial Fibrillation, Familial

  • Atfb

  • Atrial Fibrillation Autosomal Dominant

  • Autosomal Dominant Atrial Fibrillation

  • Auricular Fibrillation

  • Atrial Fibrillation

  • Atrial Fibrillation, Familial, 1
Fundus Dystrophy

  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal
Leber Plus Disease

  • Leber Congenital Amaurosis

  • Lca

  • Leber'S Amaurosis

  • Leber'S Disease

  • Amaurosis Congenita Of Leber

  • Amaurosis Congenita Of Leber, Type 1

  • Lhon Plus Disease

  • Congenital Absence Of The Rods And Cones

  • Congenital Retinal Blindness

  • Crb

  • Congenital Amaurosis Of Retinal Origin

  • Leber'S Congenital Amaurosis

  • Leber Congenital Amaurosis 1

  • Leber'S Congenital Tapetoretinal Degeneration

  • Leber'S Congenital Tapetoretinal Dysplasia

  • Lca1

  • Leber Congenital Amaurosis Type 1

  • Retinal Blindness, Congenital

  • Amaurosis, Leber Congenital

  • Dysgenesis Neuroepithelialis Retinae

  • Hereditary Epithelial Dysplasia Of Retina

  • Hereditary Retinal Aplasia

  • Heredoretinopathia Congenitalis

  • Leber Abiotrophy

  • Leber Congenital Tapetoretinal Degeneration

  • Lebers Congenital Amaurosis

  • Optic Atrophy, Hereditary, Leber
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-RS01804 CACNA2D4 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS22061 Cacna2d4 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28579 Cacna2d4 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus CACNA2D4 RGD RGD:1562038
Bos taurus CACNA2D4 VGNC VGNC:26682
Felis catus CACNA2D4 VGNC VGNC:60305
Macaca mulatta CACNA2D4 VGNC VGNC:70587
Mus musculus CACNA2D4 MGD MGI:2442632
Others CACNA2D4 NCBI