• Gene id: 10368

Gene Summary

• Gene Symbol: CACNG3   Gene   UCSC   Ensembl
• Gene name: calcium voltage-gated channel auxiliary subunit gamma 3
• Alternate names: voltage-dependent calcium channel gamma-3 subunit, TARP gamma-3, calcium channel, voltage-dependent, gamma subunit 3, neuronal voltage-gated calcium channel gamma-3 subunit, transmembrane AMPAR regulatory protein gamma-3, voltage-gated calcium channel gamma su,
• Gene location: 16p12.1 (228082659: 228099211)     Exons: 6     NC_000001.11
• 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: 606403

Protein Summary

• Protein general information: O60359  
  • Name: Voltage dependent calcium channel gamma 3 subunit (Neuronal voltage gated calcium channel gamma 3 subunit) (Transmembrane AMPAR regulatory protein gamma 3) (TARP gamma 3)
  • Length: 315  
  • Mass: 35549
• Sequence:

  MRMCDRGIQMLITTVGAFAAFSLMTIAVGTDYWLYSRGVCRTKSTSDNETSRKNEEVMTHSGLWRTCCLEGAFRG
  VCKKIDHFPEDADYEQDTAEYLLRAVRASSVFPILSVTLLFFGGLCVAASEFHRSRHNVILSAGIFFVSAGLSNI
  IGIIVYISANAGDPGQRDSKKSYSYGWSFYFGAFSFIIAEIVGVVAVHIYIEKHQQLRAKSHSEFLKKSTFARLP
  PYRYRFRRRSSSRSTEPRSRDLSPISKGFHTIPSTDISMFTLSRDPSKITMGTLLNSDRDHAFLQFHNSTPKEFK
  ESLHNNPANRRTTPV

• Structural information:
  • Interpro: IPR004031  IPR008368  
  • STRING: ENSP00000005284
• Other Databases: GeneCards:  CACNG3  Malacards:  CACNG3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0098839	postsynaptic density membrane	IBA	cellular component
GO:0019226	transmission of nerve impulse	IBA	biological process
GO:0005245	voltage-gated calcium channel activity	IBA	molecular function
GO:2000311	regulation of AMPA receptor activity	IBA	biological process
GO:0099590	neurotransmitter receptor internalization	IBA	biological process
GO:0098970	postsynaptic neurotransmitter receptor diffusion trapping	IBA	biological process
GO:0098943	neurotransmitter receptor transport, postsynaptic endosome to lysosome	IBA	biological process
GO:0032281	AMPA glutamate receptor complex	IBA	cellular component
GO:0036477	somatodendritic compartment	ISS	cellular component
GO:0006605	protein targeting	ISS	biological process
GO:0008104	protein localization	ISS	biological process
GO:2000311	regulation of AMPA receptor activity	ISS	biological process
GO:0032281	AMPA glutamate receptor 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:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0006816	calcium ion transport	IEA	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0034765	regulation of ion transmembrane 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:0098978	glutamatergic synapse	IEA	cellular component
GO:0098839	postsynaptic density membrane	IEA	cellular component
GO:0035255	ionotropic glutamate receptor binding	IEA	molecular function
GO:0030425	dendrite	IEA	cellular component
GO:0099645	neurotransmitter receptor localization to postsynaptic specialization membrane	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0098685	Schaffer collateral - CA1 synapse	IEA	cellular component
GO:0036477	somatodendritic compartment	IEA	cellular component
GO:0006605	protein targeting	IEA	biological process
GO:2000969	positive regulation of AMPA receptor activity	IEA	biological process
GO:2000311	regulation of AMPA receptor activity	IEA	biological process
GO:0099061	integral component of postsynaptic density membrane	IEA	cellular component
GO:0060076	excitatory synapse	IEA	cellular component
GO:0032281	AMPA glutamate receptor complex	IEA	cellular component
GO:0030165	PDZ domain binding	IEA	molecular function
GO:0099061	integral component of postsynaptic density membrane	IEA	cellular component
GO:0032281	AMPA glutamate receptor complex	IEA	cellular component
GO:0008104	protein localization	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006816	calcium ion transport	NAS	biological process
GO:0005245	voltage-gated calcium channel activity	NAS	molecular function
GO:0005891	voltage-gated calcium channel complex	NAS	cellular component

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
Childhood absence epilepsy	PMID:11904235
Macular degeneration	PMID:21169531
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray