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Protein

Voltage-dependent calcium channel gamma-2 subunit

Gene

CACNG2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

GO - Biological processi

Keywordsi

Molecular functionCalcium channel, Ion channel, Voltage-gated channel
Biological processCalcium transport, Ion transport, Transport
LigandCalcium

Enzyme and pathway databases

ReactomeiR-HSA-112308 Presynaptic depolarization and calcium channel opening
R-HSA-399719 Trafficking of AMPA receptors
R-HSA-5576892 Phase 0 - rapid depolarisation
R-HSA-5576893 Phase 2 - plateau phase
R-HSA-5682910 LGI-ADAM interactions
SIGNORiQ9Y698

Protein family/group databases

TCDBi8.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 subunit
Alternative 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

EuPathDBiHostDB:ENSG00000166862.6
HGNCiHGNC:1406 CACNG2
MIMi602911 gene
neXtProtiNX_Q9Y698

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei10 – 30HelicalSequence analysisAdd BLAST21
Transmembranei104 – 124HelicalSequence analysisAdd BLAST21
Transmembranei134 – 154HelicalSequence analysisAdd BLAST21
Transmembranei182 – 202HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cell junction, Membrane, Synapse, Synaptosome

Pathology & Biotechi

Involvement in diseasei

Mental retardation, autosomal dominant 10 (MRD10)1 Publication
The disease is caused by mutations 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.
See also OMIM:614256
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066599143V → 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 Publication1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi10369
MalaCardsiCACNG2
MIMi614256 phenotype
OpenTargetsiENSG00000166862
Orphaneti178469 Autosomal dominant non-syndromic intellectual disability
PharmGKBiPA26016

Chemistry databases

ChEMBLiCHEMBL2363032
DrugBankiDB00898 Ethanol

Polymorphism and mutation databases

BioMutaiCACNG2
DMDMi6685289

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001646731 – 323Voltage-dependent calcium channel gamma-2 subunitAdd BLAST323

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi48N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei253PhosphoserineBy similarity1
Modified residuei271PhosphotyrosineBy similarity1
Modified residuei321PhosphothreonineBy similarity1

Post-translational modificationi

Phosphorylation of Thr-321 impairs interaction with DLG1 and DLG4.

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ9Y698
PeptideAtlasiQ9Y698
PRIDEiQ9Y698

PTM databases

iPTMnetiQ9Y698
PhosphoSitePlusiQ9Y698

Expressioni

Tissue specificityi

Brain.

Gene expression databases

BgeeiENSG00000166862
CleanExiHS_CACNG2
GenevisibleiQ9Y698 HS

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 Publication

Protein-protein interaction databases

BioGridi115648, 20 interactors
CORUMiQ9Y698
DIPiDIP-48977N
IntActiQ9Y698, 3 interactors
STRINGi9606.ENSP00000300105

Structurei

3D structure databases

ProteinModelPortaliQ9Y698
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IFNQ Eukaryota
ENOG4110ISU LUCA
GeneTreeiENSGT00550000074547
HOGENOMiHOG000233440
HOVERGENiHBG003682
InParanoidiQ9Y698
KOiK04867
OMAiNARATDY
OrthoDBiEOG091G0D2Z
PhylomeDBiQ9Y698
TreeFamiTF327980

Family and domain databases

InterProiView protein in InterPro
IPR004031 PMP22/EMP/MP20/Claudin
IPR005422 VDCC_g2su
IPR008368 VDCC_gsu
PANTHERiPTHR12107:SF1 PTHR12107:SF1, 1 hit
PfamiView protein in Pfam
PF00822 PMP22_Claudin, 1 hit
PRINTSiPR01792 VDCCGAMMA
PR01602 VDCCGAMMA2

Sequencei

Sequence statusi: Complete.

Q9Y698-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:323
Mass (Da):35,966
Last modified:November 1, 1999 - v1
Checksum:iBF46A87E96B27934
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066599143V → 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 Publication1

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
CCDSiCCDS13931.1
RefSeqiNP_006069.1, NM_006078.3
UniGeneiHs.146766

Genome annotation databases

EnsembliENST00000300105; ENSP00000300105; ENSG00000166862
GeneIDi10369
KEGGihsa:10369
UCSCiuc003aps.3 human

Similar proteinsi

Entry informationi

Entry nameiCCG2_HUMAN
AccessioniPrimary (citable) accession number: Q9Y698
Secondary accession number(s): Q2M1M1, Q5TGT3, Q9UGZ7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: November 1, 1999
Last modified: May 23, 2018
This is version 150 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

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