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

Homo sapiens

Also known as RCD4

Gene ID: 93589 | Gene type: protein coding

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

CACNA2D4 Protein Structure

VWA_N

VWA_3

dCache_1

0
200
400
600
800
1000
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01804	CACNA2D4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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