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Q9Y698

- CCG2_HUMAN

UniProt

Q9Y698 - CCG2_HUMAN

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Protein

Voltage-dependent calcium channel gamma-2 subunit

Gene

CACNG2

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. voltage-gated calcium channel activity Source: ProtInc

GO - Biological processi

  1. membrane depolarization Source: Reactome
  2. membrane hyperpolarization Source: Ensembl
  3. neuromuscular junction development Source: Ensembl
  4. regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity Source: UniProtKB
  5. synaptic transmission Source: Reactome
  6. transmission of nerve impulse Source: Ensembl
  7. transport Source: ProtInc
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

ReactomeiREACT_13606. Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels.
REACT_18307. Trafficking of AMPA receptors.

Protein family/group databases

TCDBi8.A.16.2.1. the ca(+) channel auxiliary subunit 1-8 (cca) 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
ProteomesiUP000005640: Chromosome 22

Organism-specific databases

HGNCiHGNC:1406. CACNG2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei10 – 3021HelicalSequence AnalysisAdd
BLAST
Transmembranei104 – 12421HelicalSequence AnalysisAdd
BLAST
Transmembranei134 – 15421HelicalSequence AnalysisAdd
BLAST
Transmembranei182 – 20221HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex Source: UniProtKB
  2. endocytic vesicle membrane Source: Reactome
  3. plasma membrane Source: Reactome
  4. voltage-gated calcium channel complex Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti143 – 1431V → 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
VAR_066599

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

MIMi614256. phenotype.
Orphaneti178469. Autosomal dominant non-syndromic intellectual disability.
PharmGKBiPA26016.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 323323Voltage-dependent calcium channel gamma-2 subunitPRO_0000164673Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi48 – 481N-linked (GlcNAc...)Sequence Analysis
Modified residuei271 – 2711PhosphotyrosineBy similarity
Modified residuei321 – 3211PhosphothreonineBy similarity

Post-translational modificationi

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

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ9Y698.
PRIDEiQ9Y698.

PTM databases

PhosphoSiteiQ9Y698.

Expressioni

Tissue specificityi

Brain.

Gene expression databases

BgeeiQ9Y698.
CleanExiHS_CACNG2.
GenevestigatoriQ9Y698.

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. 18 interactions.
DIPiDIP-48977N.
IntActiQ9Y698. 1 interaction.
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

eggNOGiNOG43469.
GeneTreeiENSGT00550000074547.
HOGENOMiHOG000233440.
HOVERGENiHBG003682.
InParanoidiQ9Y698.
KOiK04867.
OMAiSMSENET.
OrthoDBiEOG7TQV1Q.
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti143 – 1431V → 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
VAR_066599

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.2. human.

Polymorphism databases

DMDMi6685289.

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 .
CCDSi CCDS13931.1.
RefSeqi NP_006069.1. NM_006078.3.
UniGenei Hs.146766.

3D structure databases

ProteinModelPortali Q9Y698.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 115648. 18 interactions.
DIPi DIP-48977N.
IntActi Q9Y698. 1 interaction.
STRINGi 9606.ENSP00000300105.

Chemistry

ChEMBLi CHEMBL2363032.

Protein family/group databases

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

PTM databases

PhosphoSitei Q9Y698.

Polymorphism databases

DMDMi 6685289.

Proteomic databases

PaxDbi Q9Y698.
PRIDEi Q9Y698.

Protocols and materials databases

DNASUi 10369.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000300105 ; ENSP00000300105 ; ENSG00000166862 .
GeneIDi 10369.
KEGGi hsa:10369.
UCSCi uc003aps.2. human.

Organism-specific databases

CTDi 10369.
GeneCardsi GC22M036959.
HGNCi HGNC:1406. CACNG2.
MIMi 602911. gene.
614256. phenotype.
neXtProti NX_Q9Y698.
Orphaneti 178469. Autosomal dominant non-syndromic intellectual disability.
PharmGKBi PA26016.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG43469.
GeneTreei ENSGT00550000074547.
HOGENOMi HOG000233440.
HOVERGENi HBG003682.
InParanoidi Q9Y698.
KOi K04867.
OMAi SMSENET.
OrthoDBi EOG7TQV1Q.
PhylomeDBi Q9Y698.
TreeFami TF327980.

Enzyme and pathway databases

Reactomei REACT_13606. Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels.
REACT_18307. Trafficking of AMPA receptors.

Miscellaneous databases

GeneWikii CACNG2.
GenomeRNAii 10369.
NextBioi 39303.
PROi Q9Y698.
SOURCEi Search...

Gene expression databases

Bgeei Q9Y698.
CleanExi HS_CACNG2.
Genevestigatori Q9Y698.

Family and domain databases

InterProi IPR004031. PMP22/EMP/MP20/Claudin.
IPR005422. VDCC_g2su.
IPR008368. VDCC_gsu.
[Graphical view ]
Pfami PF00822. PMP22_Claudin. 1 hit.
[Graphical view ]
PRINTSi PR01792. VDCCGAMMA.
PR01602. VDCCGAMMA2.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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.
    , 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. Cited for: VARIANT MRD10 LEU-143, CHARACTERIZATION OF VARIANT MRD10 LEU-143.

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: October 29, 2014
This is version 122 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

External Data

Dasty 3