• Gene id: 10369

Gene Summary

• Gene Symbol: CACNG2   Gene   UCSC   Ensembl
• Aliases: MRD10
• Gene name: calcium voltage-gated channel auxiliary subunit gamma 2
• Alternate names: voltage-dependent calcium channel gamma-2 subunit, TARP gamma-2, neuronal voltage-gated calcium channel gamma-2 subunit, stargazin, transmembrane AMPAR regulatory protein gamma-2,
• Gene location: 22q12.3 (36702857: 36560868)     Exons: 5     NC_000022.11
• 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. The AMPA subtype of ionotropic glutamate receptors are ligand gated ion channels
• OMIM: 602911

Protein Summary

• Protein general information: Q9Y698  
  • 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)
  • Length: 323  
  • Mass: 35966
  • Tissue specificity: Brain.
• Sequence:

  MGLFDRGVQMLLTTVGAFAAFSLMTIAVGTDYWLYSRGVCKTKSVSENETSKKNEEVMTHSGLWRTCCLEGNFKG
  LCKQIDHFPEDADYEADTAEYFLRAVRASSIFPILSVILLFMGGLCIAASEFYKTRHNIILSAGIFFVSAGLSNI
  IGIIVYISANAGDPSKSDSKKNSYSYGWSFYFGALSFIIAEMVGVLAVHMFIDRHKQLRATARATDYLQASAITR
  IPSYRYRYQRRSRSSSRSTEPSHSRDASPVGIKGFNTLPSTEISMYTLSRDPLKAATTPTATYNSDRDNSFLQVH
  NCIQKENKDSLHSNTANRRTTPV

• Structural information:
  • Interpro: IPR004031  IPR005422  IPR008368  
  • PDB: 6DLZ 6DM0 6DM1 6O9G
  • PDBsum: 6DLZ 6DM0 6DM1 6O9G
  • DIP: 48977
  • STRING: ENSP00000300105
• Other Databases: GeneCards:  CACNG2  Malacards:  CACNG2

Gene ontology

GO accession	Term name	Evidence code	Go category
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: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:2000311	regulation of AMPA receptor activity	ISS	biological process
GO:0032281	AMPA glutamate receptor complex	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005245	voltage-gated calcium channel activity	IEA	molecular function
GO:0006816	calcium ion transport	IEA	biological process
GO:0005891	voltage-gated calcium channel complex	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0006816	calcium ion transport	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0005262	calcium channel activity	IEA	molecular function
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0043005	neuron projection	IEA	cellular component
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005245	voltage-gated calcium channel activity	TAS	molecular function
GO:0005891	voltage-gated calcium channel complex	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0051899	membrane depolarization	TAS	biological process
GO:0030666	endocytic vesicle membrane	TAS	cellular component
GO:0061337	cardiac conduction	TAS	biological process
GO:0061337	cardiac conduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0098839	postsynaptic density membrane	IEA	cellular component
GO:0060082	eye blink reflex	IEA	biological process
GO:0051592	response to calcium ion	IEA	biological process
GO:0044300	cerebellar mossy fiber	IEA	cellular component
GO:0035255	ionotropic glutamate receptor binding	IEA	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0099645	neurotransmitter receptor localization to postsynaptic specialization membrane	IEA	biological process
GO:0099072	regulation of postsynaptic membrane neurotransmitter receptor levels	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0098685	Schaffer collateral - CA1 synapse	IEA	cellular component
GO:0050877	nervous system process	IEA	biological process
GO:0036477	somatodendritic compartment	IEA	cellular component
GO:0019226	transmission of nerve impulse	IEA	biological process
GO:0007528	neuromuscular junction development	IEA	biological process
GO:0005245	voltage-gated calcium channel activity	IEA	molecular function
GO:2000969	positive regulation of AMPA receptor activity	IEA	biological process
GO:2000311	regulation of AMPA receptor activity	IEA	biological process
GO:1904510	positive regulation of protein localization to basolateral plasma membrane	IEA	biological process
GO:0032281	AMPA glutamate receptor complex	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0009986	cell surface	IEA	cellular component
GO:0006612	protein targeting to membrane	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:2000311	regulation of AMPA receptor activity	IEA	biological process
GO:0099590	neurotransmitter receptor internalization	IEA	biological process
GO:0099061	integral component of postsynaptic density membrane	IEA	cellular component
GO:0098970	postsynaptic neurotransmitter receptor diffusion trapping	IEA	biological process
GO:0098943	neurotransmitter receptor transport, postsynaptic endosome to lysosome	IEA	biological process
GO:0098686	hippocampal mossy fiber to CA3 synapse	IEA	cellular component
GO:0060081	membrane hyperpolarization	IEA	biological process
GO:0051899	membrane depolarization	IEA	biological process
GO:0042391	regulation of membrane potential	IEA	biological process
GO:0032281	AMPA glutamate receptor complex	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0016020	membrane	IEA	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
Autosomal dominant mental retardation	KEGG:H00773
Autosomal dominant mental retardation	KEGG:H00773
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq