1. Gene
  2. CACNG5 - calcium voltage-gated channel auxiliary subunit gamma 5 Gene

CACNG5 - calcium voltage-gated channel auxiliary subunit gamma 5 Gene

中文名称:钙电压门控通道辅助亚基γ5

种属: Homo sapiens

基因 ID: 27091 | 基因类型: protein coding

关于 CACNG5

Cytogenetic location: 17q24.2 Genomic coordinates (GRCh38): 17:66,835,117-66,894,751 (from NCBI)

This gene has 3 transcripts (splice variants), 116 orthologues and 5 paralogues. Low expression observed in reference dataset.

功能概要

该基因编码的蛋白质是一种 II 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,位于一个由两个家族成员组成的簇中,即 I 型 TARP 和钙通道伽马亚基。该基因是精神分裂症和双相情感障碍的易感位点。[RefSeq 提供,2010 年 12 月]

The protein encoded by this gene is a type II 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 I TARP and a Calcium Channel gamma subunit. This gene is a susceptibility locus for schizophrenia and bipolar disorder. [provided by RefSeq, Dec 2010]

CACNG5 基因产物(2)

mRNA Protein Name
NM_001371476.1 NP_001358405.1 voltage-dependent calcium channel gamma-5 subunit isoform 2
NM_145811.3 NP_665810.1 voltage-dependent calcium channel gamma-5 subunit isoform 1
基因本体论
  • 细胞组分
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in glutamatergic synapse IDA
IDA: 通过直接分析推断
18817736 GOA
is active in glutamatergic synapse IMP
IMP: 通过突变表型推断
18817736 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

CACNG5 蛋白结构

PMP22_Claudin

PMP22_Claudin: PMP-22/EMP/MP20/Claudin family (11 - 195)

  • 0
  • 100
  • 200
  • 275 a.a.
蛋白主名 其他名称

voltage-dependent calcium channel gamma-5 subunit

TARP gamma-5

关联疾病

疾病名称 别名
Spinal Cord Ependymoma

Ependymal Neoplasm Of The Spinal Cord

Spinal Ependymoma

Ependymoma Of Spinal Cord

Bipolar Disorder

Bipolar Depression

Manic Disorder

Depression, Bipolar

Bipolar Disorder Manic Phase

Depressive-Manic Psych.

Manic Bipolar Affective Disorder

Manic Bipolar I Disorder

Manic Depression

Manic Depressive Disorder

Mixed Bipolar Disorder

Bipolar Affective Disorder

Bipolar Affective Psychosis

Bipolar Spectrum Disorder

Manic Depressive Illness

Depression Bipolar

Bipolar Disorder, Mixed

Major Affective Disorder

Major Affective Disorder 1

Major Affective Disorder 2

Spinal Cord Glioma

Glial Tumor Of Spinal Cord

Glial Neoplasm Spinal Cord

Glioma Of Spinal Cord

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Dyskeratosis Congenita, Autosomal Recessive 2

DKCB2

Autosomal Recessive Dyskeratosis Congenita 2

Dyskeratosis Congenita, Autosomal Recessive, 2

Dyskeratosis Congenita, Autosomal Recessive, Type 2

Spinal Cancer

Spinal Cord Neoplasm

Spinal Cord Neoplasms

Spinal Neoplasms

Intraspinal Tumor

Malignant Tumor Of The Spinal Cord

Spinal Cord Cancer

Spinal Neoplasm

Tumor Of The Spinal Cord

Tumors Spinal Cord

Intraspinal Neoplasm

Spinal Cord--Cancer

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
Felis catus CACNG5 VGNC VGNC:60311
Bos taurus CACNG5 VGNC VGNC:26690
Mus musculus CACNG5 MGD MGI:2157946
Rattus norvegicus CACNG5 RGD RGD:628805
Macaca mulatta CACNG5 VGNC VGNC:104589
Canis familiaris CACNG5 VGNC VGNC:38650