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

Gene

• Entrez ID: 10369
• Gene name: Calcium voltage-gated channel auxiliary subunit gamma 2
• Gene symbol: CACNG2
• Synonyms: 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 that are typically activated by glutamate released from presynaptic neuron terminals and mediate fast neurotransmission in excitatory synapses. TARPs thus play an important role in synaptic plasticity, learning and memory. Mutations in this gene cause an autosomal dominant form of cognitive disability. [provided by RefSeq, Jul 2017]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT624487	hsa-miR-205-3p	HITS-CLIP	23824327
MIRT624488	hsa-miR-3163	HITS-CLIP	23824327
MIRT624489	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT659907	hsa-miR-7156-5p	HITS-CLIP	23824327
MIRT659908	hsa-miR-4273	HITS-CLIP	23824327
MIRT659909	hsa-miR-524-5p	HITS-CLIP	23824327
MIRT659910	hsa-miR-520d-5p	HITS-CLIP	23824327
MIRT659911	hsa-miR-2117	HITS-CLIP	23824327
MIRT659912	hsa-miR-26b-3p	HITS-CLIP	23824327
MIRT659913	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT659914	hsa-miR-6729-3p	HITS-CLIP	23824327
MIRT659915	hsa-miR-8080	HITS-CLIP	23824327

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005245	Function	Voltage-gated calcium channel activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	20805473, 32296183
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005891	Component	Voltage-gated calcium channel complex	IEA
GO:0006612	Process	Protein targeting to membrane	IEA
GO:0007528	Process	Neuromuscular junction development	IEA
GO:0009986	Component	Cell surface	IEA
GO:0016247	Function	Channel regulator activity	IBA	21873635
GO:0019226	Process	Transmission of nerve impulse	IBA	21873635
GO:0030666	Component	Endocytic vesicle membrane	TAS
GO:0032281	Component	AMPA glutamate receptor complex	IBA	21873635
GO:0032281	Component	AMPA glutamate receptor complex	ISS
GO:0035255	Function	Ionotropic glutamate receptor binding	IEA
GO:0036477	Component	Somatodendritic compartment	IEA
GO:0044300	Component	Cerebellar mossy fiber	IEA
GO:0051592	Process	Response to calcium ion	IEA
GO:0051899	Process	Membrane depolarization	TAS
GO:0051968	Process	Positive regulation of synaptic transmission, glutamatergic	IBA	21873635
GO:0060081	Process	Membrane hyperpolarization	IEA
GO:0060082	Process	Eye blink reflex	IEA
GO:0061337	Process	Cardiac conduction	TAS
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	21873635
GO:0098943	Process	Neurotransmitter receptor transport, postsynaptic endosome to lysosome	IBA	21873635
GO:0098970	Process	Postsynaptic neurotransmitter receptor diffusion trapping	IBA	21873635
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099061	Component	Integral component of postsynaptic density membrane	IEA
GO:0099590	Process	Neurotransmitter receptor internalization	IBA	21873635
GO:1904510	Process	Positive regulation of protein localization to basolateral plasma membrane	IEA
GO:2000311	Process	Regulation of AMPA receptor activity	IBA	21873635
GO:2000311	Process	Regulation of AMPA receptor activity	ISS
GO:2000969	Process	Positive regulation of AMPA receptor activity	IEA

Other IDs

• MIM: 602911
• HGNC: 1406
• e!Ensembl: ENSG00000166862

Protein

• UniProt ID: 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 and desensitization. Does not show subunit-specific AMPA receptor regulation and regulates all AMPAR subunits. Thought to stabilize the calcium channel in an inactivated (closed) state.
• PDB: 6DLZ, 6DM0, 6DM1, 6O9G
• Family and domains:

  Pfam

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

• Sequence:

  MGLFDRGVQMLLTTVGAFAAFSLMTIAVGTDYWLYSRGVCKTKSVSENETSKKNEEVMTH
  SGLWRTCCLEGNFKGLCKQIDHFPEDADYEADTAEYFLRAVRASSIFPILSVILLFMGGL
  CIAASEFYKTRHNIILSAGIFFVSAGLSNIIGIIVYISANAGDPSKSDSKKNSYSYGWSF
  YFGALSFIIAEMVGVLAVHMFIDRHKQLRATARATDYLQASAITRIPSYRYRYQRRSRSS
  SRSTEPSHSRDASPVGIKGFNTLPSTEISMYTLSRDPLKAATTPTATYNSDRDNSFLQVH
  NCIQKENKDSLHSNTANRRTTPV

• Sequence length: 323