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Q9Y698 (CCG2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 117. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:CACNG2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length323 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

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. Ref.5

Subunit structure

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. Ref.5

Subcellular location

Membrane; Multi-pass membrane protein.

Tissue specificity

Brain.

Post-translational modification

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

Involvement in disease

Mental retardation, autosomal dominant 10 (MRD10) [MIM:614256]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

Sequence similarities

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

Ontologies

Keywords
   Biological processCalcium transport
Ion transport
Transport
   Cellular componentMembrane
   DiseaseDisease mutation
Mental retardation
   DomainTransmembrane
Transmembrane helix
   LigandCalcium
   Molecular functionCalcium channel
Ion channel
Voltage-gated channel
   PTMGlycoprotein
Phosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processmembrane depolarization

Traceable author statement. Source: Reactome

membrane hyperpolarization

Inferred from electronic annotation. Source: Ensembl

neuromuscular junction development

Inferred from electronic annotation. Source: Ensembl

regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity

Inferred from sequence or structural similarity. Source: UniProtKB

synaptic transmission

Traceable author statement. Source: Reactome

transmission of nerve impulse

Inferred from electronic annotation. Source: Ensembl

transport

Traceable author statement Ref.1. Source: ProtInc

   Cellular_componentalpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex

Inferred from sequence or structural similarity. Source: UniProtKB

endocytic vesicle membrane

Traceable author statement. Source: Reactome

plasma membrane

Traceable author statement. Source: Reactome

voltage-gated calcium channel complex

Traceable author statement Ref.1. Source: ProtInc

   Molecular_functionvoltage-gated calcium channel activity

Traceable author statement Ref.1. Source: ProtInc

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 323323Voltage-dependent calcium channel gamma-2 subunit
PRO_0000164673

Regions

Transmembrane10 – 3021Helical; Potential
Transmembrane104 – 12421Helical; Potential
Transmembrane134 – 15421Helical; Potential
Transmembrane182 – 20221Helical; Potential

Amino acid modifications

Modified residue2711Phosphotyrosine By similarity
Modified residue3211Phosphothreonine By similarity
Glycosylation481N-linked (GlcNAc...) Potential

Natural variations

Natural variant1431V → 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. Ref.6
VAR_066599

Sequences

Sequence LengthMass (Da)Tools
Q9Y698 [UniParc].

Last modified November 1, 1999. Version 1.
Checksum: BF46A87E96B27934

FASTA32335,966
        10         20         30         40         50         60 
MGLFDRGVQM LLTTVGAFAA FSLMTIAVGT DYWLYSRGVC KTKSVSENET SKKNEEVMTH 

        70         80         90        100        110        120 
SGLWRTCCLE GNFKGLCKQI DHFPEDADYE ADTAEYFLRA VRASSIFPIL SVILLFMGGL 

       130        140        150        160        170        180 
CIAASEFYKT RHNIILSAGI FFVSAGLSNI IGIIVYISAN AGDPSKSDSK KNSYSYGWSF 

       190        200        210        220        230        240 
YFGALSFIIA EMVGVLAVHM FIDRHKQLRA TARATDYLQA SAITRIPSYR YRYQRRSRSS 

       250        260        270        280        290        300 
SRSTEPSHSR DASPVGIKGF NTLPSTEISM YTLSRDPLKA ATTPTATYNS DRDNSFLQVH 

       310        320 
NCIQKENKDS LHSNTANRRT TPV 

« Hide

References

« Hide 'large scale' references
[1]"Identification and cloning of putative human neuronal voltage-gated calcium channel gamma-2 and gamma-3 subunits: neurologic implications."
Black J.L. III, Lennon V.A.
Mayo Clin. Proc. 74:357-361(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Cerebellum.
[2]"A genome annotation-driven approach to cloning the human ORFeome."
Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A., Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J., Beare D.M., Dunham I.
Genome Biol. 5:R84.1-R84.11(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[3]"The DNA sequence of human chromosome 22."
Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M. expand/collapse author list , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[5]"Functional comparison of the effects of TARPs and cornichons on AMPA receptor trafficking and gating."
Shi Y., Suh Y.H., Milstein A.D., Isozaki K., Schmid S.M., Roche K.W., Nicoll R.A.
Proc. Natl. Acad. Sci. U.S.A. 107:16315-16319(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INTERACTION WITH GRIA1.
[6]"Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability."
Hamdan F.F., Gauthier J., Araki Y., Lin D.T., Yoshizawa Y., Higashi K., Park A.R., Spiegelman D., Dobrzeniecka S., Piton A., Tomitori H., Daoud H., Massicotte C., Henrion E., Diallo O., Shekarabi M., Marineau C., Shevell M. expand/collapse author list , Maranda B., Mitchell G., Nadeau A., D'Anjou G., Vanasse M., Srour M., Lafreniere R.G., Drapeau P., Lacaille J.C., Kim E., Lee J.R., Igarashi K., Huganir R.L., Rouleau G.A., Michaud J.L.
Am. J. Hum. Genet. 88:306-316(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MRD10 LEU-143, CHARACTERIZATION OF VARIANT MRD10 LEU-143.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_006069.1. NM_006078.3.
UniGeneHs.146766.

3D structure databases

ProteinModelPortalQ9Y698.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115648. 8 interactions.
DIPDIP-48977N.
IntActQ9Y698. 1 interaction.
STRING9606.ENSP00000300105.

Chemistry

ChEMBLCHEMBL2363032.

Protein family/group databases

TCDB8.A.16.2.1. the ca(+) channel auxiliary subunit 1-8 (cca) family.

PTM databases

PhosphoSiteQ9Y698.

Polymorphism databases

DMDM6685289.

Proteomic databases

PaxDbQ9Y698.
PRIDEQ9Y698.

Protocols and materials databases

DNASU10369.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000300105; ENSP00000300105; ENSG00000166862.
GeneID10369.
KEGGhsa:10369.
UCSCuc003aps.2. human.

Organism-specific databases

CTD10369.
GeneCardsGC22M036959.
HGNCHGNC:1406. CACNG2.
MIM602911. gene.
614256. phenotype.
neXtProtNX_Q9Y698.
Orphanet178469. Autosomal dominant nonsyndromic intellectual deficit.
PharmGKBPA26016.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG43469.
HOGENOMHOG000233440.
HOVERGENHBG003682.
InParanoidQ9Y698.
KOK04867.
OMASMSENET.
OrthoDBEOG7TQV1Q.
PhylomeDBQ9Y698.
TreeFamTF327980.

Enzyme and pathway databases

ReactomeREACT_13685. Neuronal System.

Gene expression databases

BgeeQ9Y698.
CleanExHS_CACNG2.
GenevestigatorQ9Y698.

Family and domain databases

InterProIPR004031. PMP22/EMP/MP20/Claudin.
IPR005422. VDCC_g2su.
IPR008368. VDCC_gsu.
[Graphical view]
PfamPF00822. PMP22_Claudin. 1 hit.
[Graphical view]
PRINTSPR01792. VDCCGAMMA.
PR01602. VDCCGAMMA2.
ProtoNetSearch...

Other

GeneWikiCACNG2.
GenomeRNAi10369.
NextBio39303.
PROQ9Y698.
SOURCESearch...

Entry information

Entry nameCCG2_HUMAN
AccessionPrimary (citable) accession number: Q9Y698
Secondary accession number(s): Q2M1M1, Q5TGT3, Q9UGZ7
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: November 1, 1999
Last modified: April 16, 2014
This is version 117 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 22

Human chromosome 22: entries, gene names and cross-references to MIM