1. Gene
  2. CACNG3 - calcium voltage-gated channel auxiliary subunit gamma 3 Gene

CACNG3 - calcium voltage-gated channel auxiliary subunit gamma 3 Gene

中文名称:钙电压门控通道辅助亚基γ3

种属: Homo sapiens

基因 ID: 10368 | 基因类型: protein coding

关于 CACNG3

Cytogenetic location: 16p12.1 Genomic coordinates (GRCh38): 16:24,256,335-24,362,412 (from NCBI)

This gene has 1 transcript (splice variant), 257 orthologues and 5 paralogues. Restricted expression toward brain (RPKM 19.9).

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。该基因是儿童失神性癫痫的易感位点。[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. This gene is a susceptibility locus for childhood absence epilepsy. [provided by RefSeq, Dec 2010]

CACNG3 基因产物(1)

mRNA Protein Name
NM_006539.4 NP_006530.1 voltage-dependent calcium channel gamma-3 subunit

CACNG3 蛋白结构

PMP22_Claudin

PMP22_Claudin: PMP-22/EMP/MP20/Claudin family (7 - 195)

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

voltage-dependent calcium channel gamma-3 subunit

TARP gamma-3

关联疾病

疾病名称 别名
Childhood Absence Epilepsy

Pyknolepsy

Petit Mal Epilepsy

Absence Seizures

Absence Seizure

Petit Mal Seizure

Absence Epilepsy, Childhood

Pykno-Epilepsy

Epilepsy, Absence

Absence Epilepsy

Pycnolepsy

Juvenile Absence Epilepsy

Epilepsy Juvenile Absence

Jae

Childhood Absence Epilepsy

Absence Epilepsy

Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Mannosidosis, Beta A, Lysosomal

Beta-Mannosidosis

Lysosomal Beta-Mannosidase Deficiency

Beta-Mannosidase Deficiency

Beta-D-Mannosidosis

Mannosidosis, Beta

MANSB

Lysosomal Beta A Mannosidosis

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

Cerebrooculofacioskeletal Syndrome 1

Cofs Syndrome

COFS1

Pena-Shokeir Syndrome Type 2

Cofs

Pena-Shokeir Syndrome, Type Ii

Cerebrooculofacioskeletal Syndrome

Cerebro-Oculo-Facio-Skeletal Syndrome 1

Pena Shokeir Syndrome Type 2

Episodic Kinesigenic Dyskinesia 1

Paroxysmal Kinesigenic Choreoathetosis

Paroxysmal Kinesigenic Dyskinesia

Dystonia 10

Familial Paroxysmal Kinesigenic Dyskinesia

Episodic Kinesigenic Dyskinesia

EKD1

Pkc

Pkd

Dyt10

Familial Pkd

Paroxysmal Kinesigenic Choreathetosis

Familial Paroxysmal Dystonia

Dystonia, Familial Paroxysmal

Dyt-Prrt2

Dystonia, Type 10

Childhood Electroclinical Syndrome
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
Mus musculus CACNG3 MGD MGI:1859165
Macaca mulatta CACNG3 VGNC VGNC:70513
Canis familiaris CACNG3 VGNC VGNC:38649
Rattus norvegicus CACNG3 RGD RGD:628803
Bos taurus CACNG3 VGNC VGNC:26688
Felis catus CACNG3 VGNC VGNC:60310