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

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 59283

About 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).

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 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 Products (1)

mRNA Protein Name
NM_031895.6 NP_114101.4 voltage-dependent calcium channel gamma-8 subunit
Biological Process GO Annotation Evidence 参考文献 由来
involved in regulation of AMPA receptor activity IDA
IDA: Inferred from direct assay
20805473 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CACNG8 Protein Structure

PMP22_Claudin

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

  • 0
  • 100
  • 200
  • 300
  • 400
  • 425 a.a.
Protein Preferred Names Protein Names

voltage-dependent calcium channel gamma-8 subunit

  • TARP gamma-8

関連疾患

Diseases Alias
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

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

生物種 Symbol 由来 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
Others CACNG8 NCBI