Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	10368
Gene name	Calcium voltage-gated channel auxiliary subunit gamma 3
Gene symbol	CACNG3
Synonyms (NCBI Gene)	-
Chromosome	16
Chromosome location	16p12.1
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

Show/Hide all (19)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029027	hsa-miR-26b-5p	Microarray	19088304
MIRT858069	hsa-miR-299-3p	CLIP-seq
MIRT858070	hsa-miR-3117-3p	CLIP-seq
MIRT858071	hsa-miR-3169	CLIP-seq
MIRT858072	hsa-miR-3184	CLIP-seq
MIRT858073	hsa-miR-423-5p	CLIP-seq
MIRT858074	hsa-miR-432	CLIP-seq
MIRT858075	hsa-miR-4443	CLIP-seq
MIRT858076	hsa-miR-4446-3p	CLIP-seq
MIRT858077	hsa-miR-4648	CLIP-seq
MIRT858078	hsa-miR-4654	CLIP-seq
MIRT858079	hsa-miR-4656	CLIP-seq
MIRT858080	hsa-miR-4668-5p	CLIP-seq
MIRT858081	hsa-miR-4710	CLIP-seq
MIRT858082	hsa-miR-4721	CLIP-seq
MIRT858083	hsa-miR-4759	CLIP-seq
MIRT858084	hsa-miR-4769-5p	CLIP-seq
MIRT858085	hsa-miR-890	CLIP-seq
MIRT858082	hsa-miR-4721	CLIP-seq

Show/Hide all (39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005245	Function	Voltage-gated calcium channel activity	IBA
GO:0005245	Function	Voltage-gated calcium channel activity	NAS	10221464
GO:0005262	Function	Calcium channel activity	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005891	Component	Voltage-gated calcium channel complex	NAS	10221464
GO:0006605	Process	Protein targeting	IEA
GO:0006605	Process	Protein targeting	ISS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0006816	Process	Calcium ion transport	NAS	10221464
GO:0008104	Process	Intracellular protein localization	IEA
GO:0008104	Process	Intracellular protein localization	ISS
GO:0016020	Component	Membrane	IEA
GO:0016247	Function	Channel regulator activity	IBA
GO:0019226	Process	Transmission of nerve impulse	IBA
GO:0030165	Function	PDZ domain binding	IEA
GO:0030425	Component	Dendrite	IEA
GO:0030666	Component	Endocytic vesicle membrane	TAS
GO:0032281	Component	AMPA glutamate receptor complex	IBA
GO:0032281	Component	AMPA glutamate receptor complex	IEA
GO:0032281	Component	AMPA glutamate receptor complex	ISS
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0035255	Function	Ionotropic glutamate receptor binding	IEA
GO:0036477	Component	Somatodendritic compartment	IEA
GO:0036477	Component	Somatodendritic compartment	ISS
GO:0043226	Component	Organelle	IEA
GO:0051968	Process	Positive regulation of synaptic transmission, glutamatergic	IBA
GO:0060076	Component	Excitatory synapse	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098839	Component	Postsynaptic density membrane	IBA
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0098970	Process	Postsynaptic neurotransmitter receptor diffusion trapping	IBA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099645	Process	Neurotransmitter receptor localization to postsynaptic specialization membrane	IEA
GO:2000311	Process	Regulation of AMPA receptor activity	ISS

MIM	HGNC	e!Ensembl
606403	1407	ENSG00000006116

O60359

Protein 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)

Protein function

Regulates the trafficking to the somatodendritic compartment and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00822	PMP22_Claudin	6 → 196	PMP-22/EMP/MP20/Claudin family	Family

Sequence

MRMCDRGIQMLITTVGAFAAFSLMTIAVGTDYWLYSRGVCRTKSTSDNETSRKNEEVMTH
SGLWRTCCLEGAFRGVCKKIDHFPEDADYEQDTAEYLLRAVRASSVFPILSVTLLFFGGL
CVAASEFHRSRHNVILSAGIFFVSAGLSNIIGIIVYISANAGDPGQRDSKKSYSYGWSFY
FGAFSFIIAEIVGVVAVHIYIEKHQQLRAKSHSEFLKKSTFARLPPYRYRFRRRSSSRST
EPRSRDLSPISKGFHTIPSTDISMFTLSRDPSKITMGTLLNSDRDHAFLQFHNSTPKEFK
ESLHNNPANRRTTPV

Sequence length

315

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DEGENERATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (7)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Age related macular degeneration	Age-related macular degeneration	BEFREE	21169531		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	37794108	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Absence	Absence epilepsy	Pubtator	17264864	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	17952630		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	37697240	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	21169531	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	21169531	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

CACNG3 (calcium voltage-gated channel auxiliary subunit gamma 3)