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

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

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：钙电压门控通道辅助亚基 alpha2delta 3

种属: Homo sapiens

同用名: HSA272268

基因 ID: 55799 | 基因类型: protein coding

关于 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.

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]

CACNA2D3 基因产物(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 蛋白结构

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.
蛋白主名 其他名称

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

alpha2delta-3

关联疾病

疾病名称 别名
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
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS01803 CACNA2D3 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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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