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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10368

About 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).

Summary

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 Products (1)

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

CACNG3 Protein Structure

PMP22_Claudin

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

  • 0
  • 100
  • 200
  • 300
  • 315 a.a.
Protein Preferred Names Protein Names

voltage-dependent calcium channel gamma-3 subunit

  • TARP gamma-3

Related Diseases

Diseases Alias
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
Diseases Alias
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

Orthologs Information

Species Symbol Source 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
Others CACNG3 NCBI