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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10369
Gene name	Calcium voltage-gated channel auxiliary subunit gamma 2
Gene symbol	CACNG2
Synonyms (NCBI Gene)	MRD10
Chromosome	22
Chromosome location	22q12.3
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. The AMPA subtype of ionotropic glutamate receptors are ligand gated ion channels

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Show/Hide all (132)

miRTarBase ID	miRNA	Experiments	Reference
MIRT659915	hsa-miR-8080	HITS-CLIP	23824327
MIRT659914	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT659913	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT659912	hsa-miR-26b-3p	HITS-CLIP	23824327
MIRT659911	hsa-miR-2117	HITS-CLIP	23824327
MIRT659910	hsa-miR-520d-5p	HITS-CLIP	23824327
MIRT659909	hsa-miR-524-5p	HITS-CLIP	23824327
MIRT659908	hsa-miR-4273	HITS-CLIP	23824327
MIRT659907	hsa-miR-7156-5p	HITS-CLIP	23824327
MIRT624489	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT624488	hsa-miR-3163	HITS-CLIP	23824327
MIRT624487	hsa-miR-205-3p	HITS-CLIP	23824327
MIRT659915	hsa-miR-8080	HITS-CLIP	23824327
MIRT659914	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT659913	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT659912	hsa-miR-26b-3p	HITS-CLIP	23824327
MIRT659911	hsa-miR-2117	HITS-CLIP	23824327
MIRT659910	hsa-miR-520d-5p	HITS-CLIP	23824327
MIRT659909	hsa-miR-524-5p	HITS-CLIP	23824327
MIRT659908	hsa-miR-4273	HITS-CLIP	23824327
MIRT659907	hsa-miR-7156-5p	HITS-CLIP	23824327
MIRT624489	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT624488	hsa-miR-3163	HITS-CLIP	23824327
MIRT624487	hsa-miR-205-3p	HITS-CLIP	23824327
MIRT858016	hsa-miR-1205	CLIP-seq
MIRT858017	hsa-miR-1229	CLIP-seq
MIRT858018	hsa-miR-134	CLIP-seq
MIRT858019	hsa-miR-1343	CLIP-seq
MIRT858020	hsa-miR-150	CLIP-seq
MIRT858021	hsa-miR-1915	CLIP-seq
MIRT858022	hsa-miR-27a	CLIP-seq
MIRT858023	hsa-miR-27b	CLIP-seq
MIRT858024	hsa-miR-3118	CLIP-seq
MIRT858025	hsa-miR-3144-5p	CLIP-seq
MIRT858026	hsa-miR-3155	CLIP-seq
MIRT858027	hsa-miR-3155b	CLIP-seq
MIRT858028	hsa-miR-3166	CLIP-seq
MIRT858029	hsa-miR-3192	CLIP-seq
MIRT858030	hsa-miR-339-5p	CLIP-seq
MIRT858031	hsa-miR-342-3p	CLIP-seq
MIRT858032	hsa-miR-34a	CLIP-seq
MIRT858033	hsa-miR-34c-5p	CLIP-seq
MIRT858034	hsa-miR-3649	CLIP-seq
MIRT858035	hsa-miR-3657	CLIP-seq
MIRT858036	hsa-miR-3661	CLIP-seq
MIRT858037	hsa-miR-3678-3p	CLIP-seq
MIRT858038	hsa-miR-3690	CLIP-seq
MIRT858039	hsa-miR-4254	CLIP-seq
MIRT858040	hsa-miR-4267	CLIP-seq
MIRT858041	hsa-miR-4284	CLIP-seq
MIRT858042	hsa-miR-4418	CLIP-seq
MIRT858043	hsa-miR-4494	CLIP-seq
MIRT858044	hsa-miR-449a	CLIP-seq
MIRT858045	hsa-miR-449b	CLIP-seq
MIRT858046	hsa-miR-4532	CLIP-seq
MIRT858047	hsa-miR-4653-3p	CLIP-seq
MIRT858048	hsa-miR-4669	CLIP-seq
MIRT858049	hsa-miR-4677-3p	CLIP-seq
MIRT858050	hsa-miR-4713-5p	CLIP-seq
MIRT858051	hsa-miR-4726-3p	CLIP-seq
MIRT858052	hsa-miR-4729	CLIP-seq
MIRT858053	hsa-miR-4760-5p	CLIP-seq
MIRT858054	hsa-miR-4765	CLIP-seq
MIRT858055	hsa-miR-4771	CLIP-seq
MIRT858056	hsa-miR-484	CLIP-seq
MIRT858057	hsa-miR-486-3p	CLIP-seq
MIRT858058	hsa-miR-492	CLIP-seq
MIRT858059	hsa-miR-509-3-5p	CLIP-seq
MIRT858060	hsa-miR-509-5p	CLIP-seq
MIRT858061	hsa-miR-5096	CLIP-seq
MIRT858062	hsa-miR-513a-5p	CLIP-seq
MIRT858063	hsa-miR-532-3p	CLIP-seq
MIRT858064	hsa-miR-579	CLIP-seq
MIRT858065	hsa-miR-586	CLIP-seq
MIRT858066	hsa-miR-627	CLIP-seq
MIRT858067	hsa-miR-631	CLIP-seq
MIRT858068	hsa-miR-924	CLIP-seq
MIRT1954827	hsa-miR-1257	CLIP-seq
MIRT1954828	hsa-miR-1290	CLIP-seq
MIRT1954829	hsa-miR-129-5p	CLIP-seq
MIRT1954830	hsa-miR-193a-5p	CLIP-seq
MIRT1954831	hsa-miR-3611	CLIP-seq
MIRT1954832	hsa-miR-361-3p	CLIP-seq
MIRT1954833	hsa-miR-3667-3p	CLIP-seq
MIRT1954834	hsa-miR-3689a-3p	CLIP-seq
MIRT1954835	hsa-miR-3689c	CLIP-seq
MIRT1954836	hsa-miR-4728-5p	CLIP-seq
MIRT1954837	hsa-miR-637	CLIP-seq
MIRT2192359	hsa-miR-128	CLIP-seq
MIRT1954829	hsa-miR-129-5p	CLIP-seq
MIRT858018	hsa-miR-134	CLIP-seq
MIRT858019	hsa-miR-1343	CLIP-seq
MIRT858021	hsa-miR-1915	CLIP-seq
MIRT1954830	hsa-miR-193a-5p	CLIP-seq
MIRT2192360	hsa-miR-202	CLIP-seq
MIRT2192361	hsa-miR-224	CLIP-seq
MIRT2192362	hsa-miR-2278	CLIP-seq
MIRT858024	hsa-miR-3118	CLIP-seq
MIRT858025	hsa-miR-3144-5p	CLIP-seq
MIRT2192363	hsa-miR-3150b-3p	CLIP-seq
MIRT858032	hsa-miR-34a	CLIP-seq
MIRT858033	hsa-miR-34c-5p	CLIP-seq
MIRT1954833	hsa-miR-3667-3p	CLIP-seq
MIRT2192364	hsa-miR-376c	CLIP-seq
MIRT858042	hsa-miR-4418	CLIP-seq
MIRT858044	hsa-miR-449a	CLIP-seq
MIRT858045	hsa-miR-449b	CLIP-seq
MIRT2192365	hsa-miR-451b	CLIP-seq
MIRT858046	hsa-miR-4532	CLIP-seq
MIRT2192366	hsa-miR-4667-3p	CLIP-seq
MIRT2192367	hsa-miR-4689	CLIP-seq
MIRT2192368	hsa-miR-4784	CLIP-seq
MIRT858057	hsa-miR-486-3p	CLIP-seq
MIRT858059	hsa-miR-509-3-5p	CLIP-seq
MIRT858060	hsa-miR-509-5p	CLIP-seq
MIRT2192369	hsa-miR-642a	CLIP-seq
MIRT2192370	hsa-miR-939	CLIP-seq
MIRT1954828	hsa-miR-1290	CLIP-seq
MIRT2385463	hsa-miR-1291	CLIP-seq
MIRT2385464	hsa-miR-328	CLIP-seq
MIRT2385465	hsa-miR-4488	CLIP-seq
MIRT2385466	hsa-miR-4651	CLIP-seq
MIRT2385467	hsa-miR-4697-5p	CLIP-seq
MIRT2385468	hsa-miR-608	CLIP-seq
MIRT1954837	hsa-miR-637	CLIP-seq
MIRT1954830	hsa-miR-193a-5p	CLIP-seq
MIRT2495755	hsa-miR-3613-3p	CLIP-seq
MIRT2495756	hsa-miR-371b-5p	CLIP-seq
MIRT2495757	hsa-miR-4661-5p	CLIP-seq
MIRT2495755	hsa-miR-3613-3p	CLIP-seq
MIRT2495756	hsa-miR-371b-5p	CLIP-seq
MIRT2495757	hsa-miR-4661-5p	CLIP-seq

Show/Hide all (50)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005245	Function	Voltage-gated calcium channel activity	IBA
GO:0005245	Function	Voltage-gated calcium channel activity	IEA
GO:0005245	Function	Voltage-gated calcium channel activity	TAS	10221464
GO:0005262	Function	Calcium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	20805473, 32296183
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005891	Component	Voltage-gated calcium channel complex	IEA
GO:0005891	Component	Voltage-gated calcium channel complex	TAS	10221464
GO:0006612	Process	Protein targeting to membrane	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0007528	Process	Neuromuscular junction development	IEA
GO:0009986	Component	Cell surface	IEA
GO:0016020	Component	Membrane	IEA
GO:0016247	Function	Channel regulator activity	IBA
GO:0019226	Process	Transmission of nerve impulse	IBA
GO:0019226	Process	Transmission of nerve impulse	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:0042391	Process	Regulation of membrane potential	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043226	Component	Organelle	IEA
GO:0044300	Component	Cerebellar mossy fiber	IEA
GO:0045202	Component	Synapse	IEA
GO:0050877	Process	Nervous system process	IEA
GO:0051592	Process	Response to calcium ion	IEA
GO:0051899	Process	Membrane depolarization	IEA
GO:0051968	Process	Positive regulation of synaptic transmission, glutamatergic	IBA
GO:0060081	Process	Membrane hyperpolarization	IEA
GO:0060082	Process	Eye blink reflex	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098686	Component	Hippocampal mossy fiber to CA3 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:0098970	Process	Postsynaptic neurotransmitter receptor diffusion trapping	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099072	Process	Regulation of postsynaptic membrane neurotransmitter receptor levels	IEA
GO:0099645	Process	Neurotransmitter receptor localization to postsynaptic specialization membrane	IEA
GO:1904510	Process	Positive regulation of protein localization to basolateral plasma membrane	IEA
GO:2000311	Process	Regulation of AMPA receptor activity	ISS

MIM	HGNC	e!Ensembl
602911	1406	ENSG00000166862

Q9Y698

Protein name

Voltage-dependent calcium channel gamma-2 subunit (Neuronal voltage-gated calcium channel gamma-2 subunit) (Transmembrane AMPAR regulatory protein gamma-2) (TARP gamma-2)

Protein function

Regulates the trafficking 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 rates of activation, deactivation a

PDB

6DLZ , 6DM0 , 6DM1 , 6O9G , 6TNO

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00822	PMP22_Claudin	6 → 197	PMP-22/EMP/MP20/Claudin family	Family

Tissue specificity

TISSUE SPECIFICITY: Brain.

Sequence

MGLFDRGVQMLLTTVGAFAAFSLMTIAVGTDYWLYSRGVCKTKSVSENETSKKNEEVMTH
SGLWRTCCLEGNFKGLCKQIDHFPEDADYEADTAEYFLRAVRASSIFPILSVILLFMGGL
CIAASEFYKTRHNIILSAGIFFVSAGLSNIIGIIVYISANAGDPSKSDSKKNSYSYGWSF
YFGALSFIIAEMVGVLAVHMFIDRHKQLRATARATDYLQASAITRIPSYRYRYQRRSRSS
SRSTEPSHSRDASPVGIKGFNTLPSTEISMYTLSRDPLKAATTPTATYNSDRDNSFLQVH
NCIQKENKDSLHSNTANRRTTPV

Sequence length

323

Interactions

View interactions

	KEGG		Reactome
	MAPK signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Oxytocin signaling pathway Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy Dilated cardiomyopathy		Presynaptic depolarization and calcium channel opening Trafficking of AMPA receptors Phase 0 - rapid depolarisation Phase 2 - plateau phase LGI-ADAM 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 (11)

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.
AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CACNG2-related disorder	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complex neurodevelopmental disorder	Uncertain significance	ClinVar CTD, ClinGen	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ependymoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 10	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability, autosomal dominant 10	Uncertain significance; no classifications from unflagged records	ClinVar ClinVar, GenCC	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neurodevelopmental disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (26)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Attention Deficit Disorder	Attention Deficit Hyperactivity Disorder	BEFREE	23555897		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	23555897		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal dominant non-syndromic intellectual disability	Non-Syndromic Intellectual Disability	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	18408563, 23038240, 30738251		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	23038240, 25730879, 30738251	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	18408563		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30371558		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	18408563		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Pain	Chronic pain	Pubtator	30371558	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	18565486		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	18565486	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Absence	Absence epilepsy	Pubtator	20561025	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35788194	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperalgesia	Hyperalgesia	Pubtator	35776036	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30371558		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20688780		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 10	Mental retardation	GENOMICS_ENGLAND_DG	21376300		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 10	Mental retardation	UNIPROT_DG	21376300		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 10	Mental retardation	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	29330065		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	16983646, 17826036, 18408563, 18571626, 23555897		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	18408563, 18571626, 23555897		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar Ataxia 10	Spinocerebellar Ataxia	BEFREE	10643919		★★★★★ ★☆☆☆☆ Found in Text Mining only

CACNG2 (calcium voltage-gated channel auxiliary subunit gamma 2)