1. Gene
  2. CACNG8 - calcium voltage-gated channel auxiliary subunit gamma 8 Gene

CACNG8 - calcium voltage-gated channel auxiliary subunit gamma 8 Gene

中文名称:钙电压门控通道辅助亚基γ8

种属: Homo sapiens

基因 ID: 59283 | 基因类型: protein coding

关于 CACNG8

Cytogenetic location: 19q13.42 Genomic coordinates (GRCh38): 19:53,962,937-53,990,215 (from NCBI)

This gene has 1 transcript (splice variant), 242 orthologues and 5 paralogues. Restricted expression toward brain (RPKM 9.1).

功能概要

该基因编码的蛋白质是 I 型跨膜 AMPA 受体调节蛋白 (TARP) 。 TARP 调节 AMPA 受体的运输和通道门控。该基因是 PMP-22/EMP/MP20 家族功能多样的八成员蛋白质亚家族的一部分,位于具有两个家族成员 (II 型 TARP 和钙通道伽马亚基) 的簇中。据信该基因的 mRNA 从非 AUG (CUG) 起始密码子开始翻译。[RefSeq 提供,2010 年 12 月]

The protein encoded by this gene is a type I transmembrane AMPA Receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type II TARP and a Calcium Channel gamma subunit. The mRNA for this gene is believed to initiate translation from a non-AUG (CUG) start codon. [provided by RefSeq, Dec 2010]

CACNG8 基因产物(1)

mRNA Protein Name
NM_031895.6 NP_114101.4 voltage-dependent calcium channel gamma-8 subunit
基因本体论
  • 生物过程
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in regulation of AMPA receptor activity IDA
IDA: 通过直接分析推断
20805473 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

CACNG8 蛋白结构

PMP22_Claudin

PMP22_Claudin: PMP-22/EMP/MP20/Claudin family (18 - 223)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 425 a.a.
蛋白主名 其他名称

voltage-dependent calcium channel gamma-8 subunit

TARP gamma-8

关联疾病

疾病名称 别名
Retinitis Pigmentosa 32

RP32

Retinitis Pigmentosa-32

Antisocial Personality Disorder

Dissocial Personality Disorder

Asocial Personality

Psychopath.Personality

Psychopathic Personality

Psychopathic Personality Disorder

Sociopathic Personality

Retinitis Pigmentosa 38

RP38

Rod-Cone Dystrophy, Childhood-Onset

Retinitis Pigmentosa, Type 38

Retinitis Pigmentosa 25

RP25

Retinitis Pigmentosa-25

Retinitis Pigmentosa, Type 25

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

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

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta CACNG8 VGNC VGNC:108485
Mus musculus CACNG8 MGD MGI:1932376
Canis familiaris CACNG8 VGNC VGNC:38652
Rattus norvegicus CACNG8 RGD RGD:628808
Bos taurus CACNG8 VGNC VGNC:52183