1. Gene
  2. CACNA2D3 - calcium voltage-gated channel auxiliary subunit alpha2delta 3 Gene

CACNA2D3 - calcium voltage-gated channel auxiliary subunit alpha2delta 3 Gene

Homo sapiens

Also known as HSA272268

Gene ID: 55799 | Gene type: protein coding

About CACNA2D3

Cytogenetic location: 3p21.1-p14.3 Genomic coordinates (GRCh38): 3:54,122,552-55,074,557 (from NCBI)

This gene has 12 transcripts (splice variants), 303 orthologues and 4 paralogues. Broad expression in brain (RPKM 3.0), adrenal (RPKM 1.8) and 16 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]

CACNA2D3 Products(2)

mRNA Protein Name
NM_018398.3 NP_060868.2 voltage-dependent calcium channel subunit alpha-2/delta-3 precursor
NM_018398.3 NP_060868.2 voltage-dependent calcium channel subunit alpha-2/delta-3 precursor

CACNA2D3 Protein Structure

VWA_N

VWA_N: VWA N-terminal (113 - 229)

VWA_2

VWA_2: von Willebrand factor type A domain (256 - 429)

dCache_1

dCache_1: Cache domain (452 - 548)

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  • 1091 a.a.
Protein Preferred Names Protein Names

voltage-dependent calcium channel subunit alpha-2/delta-3

alpha2delta-3

Related Diseases

Diseases Alias
Alkuraya-Kucinskas Syndrome

ALKKUCS

Kiaa1109-Related Early Lethal Congenital Brain Malformations-Arthrogryposis Syndrome

Arthrogryposis

Frontonasal Dysplasia 1

Frontorhiny

Frontonasal Dysplasia

Fnd

Frontonasal Malformation

Fnm

Median Facial Cleft Syndrome

Midline Facial Cleft

FND1

Median Cleft Face Syndrome

Median Cleft Syndrome

Frontonasal Dysplasia Sequence

Median Facial Cleft

Tessier Number 0-14 And 30 Facial Cleft

Alx3-Related Frontonasal Dysplasia

Frontonasal Dysplasia Type 1

Isolated Median Cleft Face Syndrome

Doid:0081044

Doid:0081045

Dysplasia, Frontonasal, Type

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

Intellectual Developmental Disorder, X-Linked 109

Fraxe Syndrome

Fragile Xe Syndrome

Mental Retardation, X-Linked, Fraxe Type

XLID109

Mrx109

Mental Retardation, X-Linked, Associated With Fragile Site Fraxe

Fraxe Mental Retardation Syndrome

X-Linked Intellectual Developmental Disorder 109

Fraxe Intellectual Disability

Fraxe

Mental Retardation, X-Linked 109

Fragile Site On Chromosome Xq28

Fragile Site, Folic Acid Type

X-Linked Intellectual Disability Associated With Fragile Site Fraxe

Fraxe Intellectual Deficit

Intellectual Disability Associated With Fragile Site Fraxe

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

Orthologs Information

Species Symbol Source ID
Macaca mulatta CACNA2D3 VGNC VGNC:84230
Canis familiaris CACNA2D3 VGNC VGNC:38643
Mus musculus CACNA2D3 MGD MGI:1338890
Rattus norvegicus CACNA2D3 RGD RGD:631361
Felis catus CACNA2D3 VGNC VGNC:60304
Bos taurus CACNA2D3 VGNC VGNC:26681