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

Also Known as HSA272268

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55799

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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS01803 CACNA2D3 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS22060 Cacna2d3 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28578 Cacna2d3 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

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
Others CACNA2D3 NCBI