CACNG2
entrez
10369
canonical
uniprot
Q9Y698
canonical
ensembl
ENSG00000166862
resolver
ensp
ENSP00000300105
resolver
enst
ENST00000300105
resolver
genesymbol
CACNG2
resolver
hgnc
HGNC:1406
resolver
uniprot
Q2M1M1
resolver
uniprot
Q5TGT3
resolver
uniprot
Q9UGZ7
resolver
uniprot_entry
CCG2_HUMAN
resolver
uniprot_sec
Q2M1M1
resolver
uniprot_sec
Q5TGT3
resolver
uniprot_sec
Q9UGZ7
resolver
amino_acid_sequence
MGLFDRGVQMLLTTVGAFAAFSLMTIAVGTDYWLYSRGVCKTKSVSENETSKKNEEVMTHSGLWRTCCLEGNFKGLCKQIDHFPEDADYEADTAEYFLRAVRASSIFPILSVILLFMGGLCIAASEFYKTRHNIILSAGIFFVSAGLSNIIGIIVYISANAGDPSKSDSKKNSYSYGWSFYFGALSFIIAEMVGVLAVHMFIDRHKQLRATARATDYLQASAITRIPSYRYRYQRRSRSSSRSTEPSHSRDASPVGIKGFNTLPSTEISMYTLSRDPLKAATTPTATYNSDRDNSFLQVHNCIQKENKDSLHSNTANRRTTPV
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, 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. {ECO:0000269|PubMed:21376300}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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. {ECO:0000269|PubMed:20805473}.
uniprot
proteins
mass_dalton
35966
uniprot
proteins
post_translational_modification
PTM: Phosphorylation of Thr-321 impairs interaction with DLG1 and DLG4.
uniprot
proteins
protein_family
CACNG subfamily
uniprot
proteins
protein_family
PMP-22/EMP/MP20 family
uniprot
proteins
pubmed
10221464
uniprot
proteins
pubmed
10591208
uniprot
proteins
pubmed
15461802
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
20805473
uniprot
proteins
pubmed
21376300
uniprot
proteins
pubmed
30122377
uniprot
proteins
sequence_length
323
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. Synapse, synaptosome {ECO:0000250|UniProtKB:Q71RJ2}.
uniprot
proteins
transmembrane_region
TRANSMEM 10..30; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 104..124; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 134..154; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 182..202; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins