• Gene id: 59283

Gene Summary

• Gene Symbol: CACNG8   Gene   UCSC   Ensembl
• Gene name: calcium voltage-gated channel auxiliary subunit gamma 8
• Alternate names: voltage-dependent calcium channel gamma-8 subunit, TARP gamma-8, calcium channel, voltage-dependent, gamma subunit 8, neuronal voltage-gated calcium channel gamma-8 subunit, transmembrane AMPAR regulatory protein gamma-8,
• Gene location: 19q13.42 (53962936: 53990214)     Exons: 4     NC_000019.10
• Gene summary(Entrez): 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
• OMIM: 608985

Protein Summary

• Protein general information: Q8WXS5  
  • Name: Voltage dependent calcium channel gamma 8 subunit (Neuronal voltage gated calcium channel gamma 8 subunit) (Transmembrane AMPAR regulatory protein gamma 8) (TARP gamma 8)
  • Length: 425  
  • Mass: 43313
  • Tissue specificity: Detected in heart left ventricle. {ECO
• Sequence:

  MESLKRWNEERGLWCEKGVQVLLTTVGAFAAFGLMTIAISTDYWLYTRALICNTTNLTAGGDDGTPHRGGGGASE
  KKDPGGLTHSGLWRICCLEGLKRGVCVKINHFPEDTDYDHDSAEYLLRVVRASSIFPILSAILLLLGGVCVAASR
  VYKSKRNIILGAGILFVAAGLSNIIGVIVYISANAGEPGPKRDEEKKNHYSYGWSFYFGGLSFILAEVIGVLAVN
  IYIERSREAHCQSRSDLLKAGGGAGGSGGSGPSAILRLPSYRFRYRRRSRSSSRSSEPSPSRDASPGGPGGPGFA
  STDISMYTLSRDPSKGSVAAGLAGAGGGGGGAVGAFGGAAGGAGGGGGGGGGAGAERDRGGASGFLTLHNAFPKE
  AGGGVTVTVTGPPAPPAPAPPAPSAPAPGTLAKEAAASNTNTLNRKTTPV

• Structural information:
  • Interpro: IPR004031  IPR008372  IPR008368  
  • STRING: ENSP00000270458
• Other Databases: GeneCards:  CACNG8  Malacards:  CACNG8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005245	voltage-gated calcium channel activity	IBA	molecular function
GO:0019226	transmission of nerve impulse	IBA	biological process
GO:0098839	postsynaptic density membrane	IBA	cellular component
GO:0032281	AMPA glutamate receptor complex	IBA	cellular component
GO:0098943	neurotransmitter receptor transport, postsynaptic endosome to lysosome	IBA	biological process
GO:0098970	postsynaptic neurotransmitter receptor diffusion trapping	IBA	biological process
GO:0099590	neurotransmitter receptor internalization	IBA	biological process
GO:2000311	regulation of AMPA receptor activity	IBA	biological process
GO:2000311	regulation of AMPA receptor activity	IDA	biological process
GO:2000311	regulation of AMPA receptor activity	IDA	biological process
GO:0005246	calcium channel regulator activity	ISS	molecular function
GO:0032281	AMPA glutamate receptor complex	ISS	cellular component
GO:0014069	postsynaptic density	ISS	cellular component
GO:1990454	L-type voltage-gated calcium channel complex	ISS	cellular component
GO:0006816	calcium ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005262	calcium channel activity	IEA	molecular function
GO:0006816	calcium ion transport	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0045202	synapse	IEA	cellular component
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0030666	endocytic vesicle membrane	TAS	cellular component
GO:0061337	cardiac conduction	TAS	biological process
GO:0061337	cardiac conduction	TAS	biological process
GO:0098839	postsynaptic density membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006816	calcium ion transport	NAS	biological process
GO:0005891	voltage-gated calcium channel complex	NAS	cellular component
GO:0005245	voltage-gated calcium channel activity	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04010	MAPK signaling pathway
hsa04261	Adrenergic signaling in cardiomyocytes
hsa04921	Oxytocin signaling pathway
hsa04260	Cardiac muscle contraction
hsa05414	Dilated cardiomyopathy
hsa05410	Hypertrophic cardiomyopathy
hsa05412	Arrhythmogenic right ventricular cardiomyopathy

Diseases

Associated diseases	References
Cardiomyopathy	PMID:26710323
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq