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

中文名称：钙电压门控通道辅助亚基 alpha2delta 4

种属: Homo sapiens

同用名: RCD4

基因 ID: 93589 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 alpha-2/delta 亚基家族的成员，这是电压依赖性钙通道复合体中的一种蛋白质。钙通道在膜极化时介导钙离子流入细胞，由 1:1:1:1 比例的 alpha-1、alpha-2/delta、beta 和 gamma 亚基复合物组成。这些亚基中的每一个都存在不同的版本，或者是从相似的基因表达的，或者是可变剪接的结果。对兔子中一种高度相似的蛋白质的研究表明，该记录中描述的蛋白质被切割成 alpha-2 和 delta 亚基。已观察到该基因的替代转录剪接变体，但尚未彻底表征。[RefSeq 提供，2008 年 7 月]

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 基因产物(1)

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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables voltage-gated calcium channel activity	IDA IDA: 通过直接分析推断	12181424	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in calcium ion transmembrane transport	IDA IDA: 通过直接分析推断	12181424	GOA
involved in detection of light stimulus involved in visual perception	IMP IMP: 通过突变表型推断	17033974	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of voltage-gated calcium channel complex	IDA IDA: 通过直接分析推断	12181424	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

CACNA2D4 蛋白结构

VWA_N

VWA_3

dCache_1

0
200
400
600
800
1000
1137 a.a.

蛋白主名

其他名称

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

alpha2delta-4

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS01804	CACNA2D4 Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS22061	Cacna2d4 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS28579	Cacna2d4 Rat Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 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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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

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

关于 CACNA2D4

功能概要

CACNA2D4 基因产物(1)

CACNA2D4 蛋白结构

关联疾病

直系同源

热门区域

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

关于 CACNA2D4

功能概要

CACNA2D4 基因产物(1)

CACNA2D4 蛋白结构

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z