UniProtKB - Q9Y698 (CCG2_HUMAN)
Protein
Voltage-dependent calcium channel gamma-2 subunit
Gene
CACNG2
Organism
Homo sapiens (Human)
Status
Functioni
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.1 Publication
GO - Molecular functioni
- channel regulator activity Source: GO_Central
- ionotropic glutamate receptor binding Source: Ensembl
- voltage-gated calcium channel activity Source: GO_Central
GO - Biological processi
- eye blink reflex Source: Ensembl
- membrane depolarization Source: Reactome
- membrane hyperpolarization Source: Ensembl
- neuromuscular junction development Source: Ensembl
- neurotransmitter receptor internalization Source: GO_Central
- neurotransmitter receptor transport, postsynaptic endosome to lysosome Source: GO_Central
- positive regulation of AMPA receptor activity Source: Ensembl
- positive regulation of protein localization to basolateral plasma membrane Source: Ensembl
- positive regulation of synaptic transmission, glutamatergic Source: GO_Central
- postsynaptic neurotransmitter receptor diffusion trapping Source: GO_Central
- protein targeting to membrane Source: Ensembl
- regulation of AMPA receptor activity Source: UniProtKB
- response to calcium ion Source: Ensembl
- transmission of nerve impulse Source: GO_Central
Keywordsi
Molecular function | Calcium channel, Ion channel, Voltage-gated channel |
Biological process | Calcium transport, Ion transport, Transport |
Ligand | Calcium |
Enzyme and pathway databases
PathwayCommonsi | Q9Y698 |
Reactomei | R-HSA-112308, Presynaptic depolarization and calcium channel opening R-HSA-399719, Trafficking of AMPA receptors R-HSA-5682910, LGI-ADAM interactions |
SIGNORi | Q9Y698 |
Protein family/group databases
TCDBi | 8.A.16.2.1, the ca(+) channel auxiliary subunit Gama1-Gama8 (ccaGama) family |
Names & Taxonomyi
Protein namesi | Recommended name: Voltage-dependent calcium channel gamma-2 subunitAlternative name(s): Neuronal voltage-gated calcium channel gamma-2 subunit Transmembrane AMPAR regulatory protein gamma-2 Short name: TARP gamma-2 |
Gene namesi | Name:CACNG2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:1406, CACNG2 |
MIMi | 602911, gene |
neXtProti | NX_Q9Y698 |
VEuPathDBi | HostDB:ENSG00000166862.6 |
Subcellular locationi
Other locations
- Membrane ; Multi-pass membrane protein
- synaptosome By similarity
Cytosol
- cytosol Source: Ensembl
Plasma Membrane
- AMPA glutamate receptor complex Source: UniProtKB
- integral component of postsynaptic density membrane Source: Ensembl
- plasma membrane Source: Reactome
- postsynaptic density membrane Source: GO_Central
- voltage-gated calcium channel complex Source: ProtInc
Other locations
- cell surface Source: Ensembl
- cerebellar mossy fiber Source: Ensembl
- endocytic vesicle membrane Source: Reactome
- glutamatergic synapse Source: Ensembl
- hippocampal mossy fiber to CA3 synapse Source: Ensembl
- Schaffer collateral - CA1 synapse Source: Ensembl
- somatodendritic compartment Source: Ensembl
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 10 – 30 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 104 – 124 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 134 – 154 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 182 – 202 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
Cell junction, Membrane, Synapse, SynaptosomePathology & Biotechi
Involvement in diseasei
Mental retardation, autosomal dominant 10 (MRD10)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_066599 | 143 | V → L in MRD10; significantly reduced ability to bind GRIA1 or GRIA2 AMPARs; cell surface expression of GRIA1 is reduced in transfected hippocampal neurons and HEK293 cells producing mutant protein compared to cells producing the wild-type. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, Mental retardationOrganism-specific databases
DisGeNETi | 10369 |
MalaCardsi | CACNG2 |
MIMi | 614256, phenotype |
OpenTargetsi | ENSG00000166862 |
Orphaneti | 178469, Autosomal dominant non-syndromic intellectual disability |
PharmGKBi | PA26016 |
Miscellaneous databases
Pharosi | Q9Y698, Tbio |
Chemistry databases
ChEMBLi | CHEMBL4296111 |
DrugBanki | DB13746, Bioallethrin DB11148, Butamben DB00228, Enflurane DB00153, Ergocalciferol DB00898, Ethanol DB00421, Spironolactone |
Genetic variation databases
BioMutai | CACNG2 |
DMDMi | 6685289 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000164673 | 1 – 323 | Voltage-dependent calcium channel gamma-2 subunitAdd BLAST | 323 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 48 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Modified residuei | 253 | PhosphoserineBy similarity | 1 | |
Modified residuei | 271 | PhosphotyrosineBy similarity | 1 | |
Modified residuei | 321 | PhosphothreonineBy similarity | 1 |
Post-translational modificationi
Phosphorylation of Thr-321 impairs interaction with DLG1 and DLG4.
Keywords - PTMi
Glycoprotein, PhosphoproteinProteomic databases
MassIVEi | Q9Y698 |
PaxDbi | Q9Y698 |
PeptideAtlasi | Q9Y698 |
PRIDEi | Q9Y698 |
ProteomicsDBi | 86635 |
PTM databases
GlyGeni | Q9Y698, 1 site |
iPTMneti | Q9Y698 |
PhosphoSitePlusi | Q9Y698 |
Expressioni
Tissue specificityi
Brain.
Gene expression databases
Bgeei | ENSG00000166862, Expressed in frontal cortex and 63 other tissues |
Genevisiblei | Q9Y698, HS |
Organism-specific databases
HPAi | ENSG00000166862, Tissue enriched (brain) |
Interactioni
Subunit structurei
The L-type calcium channel is composed of five subunits: alpha-1, alpha-2/delta, beta and gamma.
Interacts with the PDZ domains of DLG4/PSD-95 and DLG1/SAP97. May interact with GOPC (By similarity). Acts as an auxiliary subunit for AMPA-selective glutamate receptors (AMPARs).
Found in a complex with GRIA1, GRIA2, GRIA3, GRIA4, CNIH2, CNIH3, CACNG3, CACNG4, CACNG5, CACNG7 and CACNG8 (By similarity).
Interacts with GRIA1 and GRIA2 (PubMed:20805473).
Interacts with MPP2 (By similarity).
By similarity1 PublicationBinary interactionsi
Q9Y698
With | #Exp. | IntAct |
---|---|---|
WIPF1 - isoform 4 [O43516-4] | 3 | EBI-6659211,EBI-12052927 |
GO - Molecular functioni
- ionotropic glutamate receptor binding Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 115648, 22 interactors |
CORUMi | Q9Y698 |
DIPi | DIP-48977N |
IntActi | Q9Y698, 15 interactors |
STRINGi | 9606.ENSP00000300105 |
Chemistry databases
BindingDBi | Q9Y698 |
Miscellaneous databases
RNActi | Q9Y698, protein |
Family & Domainsi
Sequence similaritiesi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502QSNI, Eukaryota |
GeneTreei | ENSGT01000000214567 |
HOGENOMi | CLU_053704_0_1_1 |
InParanoidi | Q9Y698 |
OMAi | CIQKESK |
OrthoDBi | 1117127at2759 |
PhylomeDBi | Q9Y698 |
TreeFami | TF327980 |
Family and domain databases
InterProi | View protein in InterPro IPR004031, PMP22/EMP/MP20/Claudin IPR005422, VDCC_g2su IPR008368, VDCC_gsu |
PANTHERi | PTHR12107:SF1, PTHR12107:SF1, 1 hit |
Pfami | View protein in Pfam PF00822, PMP22_Claudin, 1 hit |
PRINTSi | PR01792, VDCCGAMMA PR01602, VDCCGAMMA2 |
i Sequence
Sequence statusi: Complete.
Q9Y698-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MGLFDRGVQM LLTTVGAFAA FSLMTIAVGT DYWLYSRGVC KTKSVSENET
60 70 80 90 100
SKKNEEVMTH SGLWRTCCLE GNFKGLCKQI DHFPEDADYE ADTAEYFLRA
110 120 130 140 150
VRASSIFPIL SVILLFMGGL CIAASEFYKT RHNIILSAGI FFVSAGLSNI
160 170 180 190 200
IGIIVYISAN AGDPSKSDSK KNSYSYGWSF YFGALSFIIA EMVGVLAVHM
210 220 230 240 250
FIDRHKQLRA TARATDYLQA SAITRIPSYR YRYQRRSRSS SRSTEPSHSR
260 270 280 290 300
DASPVGIKGF NTLPSTEISM YTLSRDPLKA ATTPTATYNS DRDNSFLQVH
310 320
NCIQKENKDS LHSNTANRRT TPV
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_066599 | 143 | V → L in MRD10; significantly reduced ability to bind GRIA1 or GRIA2 AMPARs; cell surface expression of GRIA1 is reduced in transfected hippocampal neurons and HEK293 cells producing mutant protein compared to cells producing the wild-type. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF096322 mRNA Translation: AAD22738.1 CR456414 mRNA Translation: CAG30300.1 AL022313 Genomic DNA No translation available. AL031845 Genomic DNA No translation available. AL049749 Genomic DNA No translation available. BC069612 mRNA Translation: AAH69612.1 BC112297 mRNA Translation: AAI12298.1 BC112299 mRNA Translation: AAI12300.1 |
CCDSi | CCDS13931.1 |
RefSeqi | NP_006069.1, NM_006078.3 |
Genome annotation databases
Ensembli | ENST00000300105; ENSP00000300105; ENSG00000166862 |
GeneIDi | 10369 |
KEGGi | hsa:10369 |
UCSCi | uc003aps.3, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF096322 mRNA Translation: AAD22738.1 CR456414 mRNA Translation: CAG30300.1 AL022313 Genomic DNA No translation available. AL031845 Genomic DNA No translation available. AL049749 Genomic DNA No translation available. BC069612 mRNA Translation: AAH69612.1 BC112297 mRNA Translation: AAI12298.1 BC112299 mRNA Translation: AAI12300.1 |
CCDSi | CCDS13931.1 |
RefSeqi | NP_006069.1, NM_006078.3 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
6DLZ | electron microscopy | 3.90 | A/B/C/D | 2-208 | [»] | |
6DM0 | electron microscopy | 4.40 | A/B/C/D | 2-208 | [»] | |
6DM1 | electron microscopy | 4.20 | A/B/C/D | 2-208 | [»] | |
6O9G | electron microscopy | 4.80 | A/B/C/D | 2-208 | [»] | |
SMRi | Q9Y698 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 115648, 22 interactors |
CORUMi | Q9Y698 |
DIPi | DIP-48977N |
IntActi | Q9Y698, 15 interactors |
STRINGi | 9606.ENSP00000300105 |
Chemistry databases
BindingDBi | Q9Y698 |
ChEMBLi | CHEMBL4296111 |
DrugBanki | DB13746, Bioallethrin DB11148, Butamben DB00228, Enflurane DB00153, Ergocalciferol DB00898, Ethanol DB00421, Spironolactone |
Protein family/group databases
TCDBi | 8.A.16.2.1, the ca(+) channel auxiliary subunit Gama1-Gama8 (ccaGama) family |
PTM databases
GlyGeni | Q9Y698, 1 site |
iPTMneti | Q9Y698 |
PhosphoSitePlusi | Q9Y698 |
Genetic variation databases
BioMutai | CACNG2 |
DMDMi | 6685289 |
Proteomic databases
MassIVEi | Q9Y698 |
PaxDbi | Q9Y698 |
PeptideAtlasi | Q9Y698 |
PRIDEi | Q9Y698 |
ProteomicsDBi | 86635 |
Protocols and materials databases
Antibodypediai | 25748, 227 antibodies |
DNASUi | 10369 |
Genome annotation databases
Ensembli | ENST00000300105; ENSP00000300105; ENSG00000166862 |
GeneIDi | 10369 |
KEGGi | hsa:10369 |
UCSCi | uc003aps.3, human |
Organism-specific databases
CTDi | 10369 |
DisGeNETi | 10369 |
GeneCardsi | CACNG2 |
HGNCi | HGNC:1406, CACNG2 |
HPAi | ENSG00000166862, Tissue enriched (brain) |
MalaCardsi | CACNG2 |
MIMi | 602911, gene 614256, phenotype |
neXtProti | NX_Q9Y698 |
OpenTargetsi | ENSG00000166862 |
Orphaneti | 178469, Autosomal dominant non-syndromic intellectual disability |
PharmGKBi | PA26016 |
VEuPathDBi | HostDB:ENSG00000166862.6 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QSNI, Eukaryota |
GeneTreei | ENSGT01000000214567 |
HOGENOMi | CLU_053704_0_1_1 |
InParanoidi | Q9Y698 |
OMAi | CIQKESK |
OrthoDBi | 1117127at2759 |
PhylomeDBi | Q9Y698 |
TreeFami | TF327980 |
Enzyme and pathway databases
PathwayCommonsi | Q9Y698 |
Reactomei | R-HSA-112308, Presynaptic depolarization and calcium channel opening R-HSA-399719, Trafficking of AMPA receptors R-HSA-5682910, LGI-ADAM interactions |
SIGNORi | Q9Y698 |
Miscellaneous databases
BioGRID-ORCSi | 10369, 17 hits in 978 CRISPR screens |
ChiTaRSi | CACNG2, human |
GeneWikii | CACNG2 |
GenomeRNAii | 10369 |
Pharosi | Q9Y698, Tbio |
PROi | PR:Q9Y698 |
RNActi | Q9Y698, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000166862, Expressed in frontal cortex and 63 other tissues |
Genevisiblei | Q9Y698, HS |
Family and domain databases
InterProi | View protein in InterPro IPR004031, PMP22/EMP/MP20/Claudin IPR005422, VDCC_g2su IPR008368, VDCC_gsu |
PANTHERi | PTHR12107:SF1, PTHR12107:SF1, 1 hit |
Pfami | View protein in Pfam PF00822, PMP22_Claudin, 1 hit |
PRINTSi | PR01792, VDCCGAMMA PR01602, VDCCGAMMA2 |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CCG2_HUMAN | |
Accessioni | Q9Y698Primary (citable) accession number: Q9Y698 Secondary accession number(s): Q2M1M1, Q5TGT3, Q9UGZ7 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 30, 2000 |
Last sequence update: | November 1, 1999 | |
Last modified: | April 7, 2021 | |
This is version 172 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 22
Human chromosome 22: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families