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Protein

Voltage-dependent calcium channel gamma-2 subunit

Gene

CACNG2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

  • calcium channel activity Source: Reactome
  • channel regulator activity Source: GO_Central
  • voltage-gated calcium channel activity Source: ProtInc

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Calcium channel, Ion channel, Voltage-gated channel

Keywords - Biological processi

Calcium transport, Ion transport, Transport

Keywords - Ligandi

Calcium

Enzyme and pathway databases

BioCyciZFISH:ENSG00000166862-MONOMER.
ReactomeiR-HSA-112308. Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels.
R-HSA-399719. Trafficking of AMPA receptors.
R-HSA-5576892. Phase 0 - rapid depolarisation.
R-HSA-5576893. Phase 2 - plateau phase.
R-HSA-5576894. Phase 1 - inactivation of fast Na+ channels.
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

HGNCiHGNC:1406. CACNG2.

Subcellular locationi

Topology

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

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

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...)Sequence 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.By similarity1 Publication

Protein-protein interaction databases

BioGridi115648. 20 interactors.
DIPiDIP-48977N.
IntActiQ9Y698. 1 interactor.
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

InterProiIPR004031. PMP22/EMP/MP20/Claudin.
IPR005422. VDCC_g2su.
IPR008368. VDCC_gsu.
[Graphical view]
PfamiPF00822. PMP22_Claudin. 1 hit.
[Graphical view]
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, AL031845, AL049749 Genomic DNA. Translation: CAI19227.1.
AL031845, AL022313, AL049749 Genomic DNA. Translation: CAI17986.1.
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.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF096322 mRNA. Translation: AAD22738.1.
CR456414 mRNA. Translation: CAG30300.1.
AL022313, AL031845, AL049749 Genomic DNA. Translation: CAI19227.1.
AL031845, AL022313, AL049749 Genomic DNA. Translation: CAI17986.1.
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.

3D structure databases

ProteinModelPortaliQ9Y698.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115648. 20 interactors.
DIPiDIP-48977N.
IntActiQ9Y698. 1 interactor.
STRINGi9606.ENSP00000300105.

Chemistry databases

ChEMBLiCHEMBL2363032.
DrugBankiDB00898. Ethanol.

Protein family/group databases

TCDBi8.A.16.2.1. the ca(+) channel auxiliary subunit Gama1-Gama8 (ccaGama) family.

PTM databases

iPTMnetiQ9Y698.
PhosphoSitePlusiQ9Y698.

Polymorphism and mutation databases

BioMutaiCACNG2.
DMDMi6685289.

Proteomic databases

PaxDbiQ9Y698.
PeptideAtlasiQ9Y698.
PRIDEiQ9Y698.

Protocols and materials databases

DNASUi10369.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi10369.
DisGeNETi10369.
GeneCardsiCACNG2.
HGNCiHGNC:1406. CACNG2.
MalaCardsiCACNG2.
MIMi602911. gene.
614256. phenotype.
neXtProtiNX_Q9Y698.
OpenTargetsiENSG00000166862.
Orphaneti178469. Autosomal dominant non-syndromic intellectual disability.
PharmGKBiPA26016.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000166862-MONOMER.
ReactomeiR-HSA-112308. Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels.
R-HSA-399719. Trafficking of AMPA receptors.
R-HSA-5576892. Phase 0 - rapid depolarisation.
R-HSA-5576893. Phase 2 - plateau phase.
R-HSA-5576894. Phase 1 - inactivation of fast Na+ channels.
R-HSA-5682910. LGI-ADAM interactions.
SIGNORiQ9Y698.

Miscellaneous databases

GeneWikiiCACNG2.
GenomeRNAii10369.
PROiQ9Y698.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000166862.
CleanExiHS_CACNG2.
GenevisibleiQ9Y698. HS.

Family and domain databases

InterProiIPR004031. PMP22/EMP/MP20/Claudin.
IPR005422. VDCC_g2su.
IPR008368. VDCC_gsu.
[Graphical view]
PfamiPF00822. PMP22_Claudin. 1 hit.
[Graphical view]
PRINTSiPR01792. VDCCGAMMA.
PR01602. VDCCGAMMA2.
ProtoNetiSearch...

Entry informationi

Entry nameiCCG2_HUMAN
AccessioniPrimary (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: November 2, 2016
This is version 138 of the entry and version 1 of the sequence. [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

Documents

  1. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.