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_2

dCache_1

0
200
400
600
800
1000
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01803	CACNA2D3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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