GRIN2A

GRIN2A
Strwythurau
PDB	Human UniProt search: PDBe RCSB
Rhestr o ddynodwyr PDB
	3NFL, 5H8Q, 5H8H, 5H8N, 5H8F, 5I2N, 5I2K, 5KDT, 5KCJ
Dynodwyr
Cyfenwau	GRIN2A, EPND, FESD, GluN2A, LKS, NMDAR2A, NR2A, glutamate ionotropic receptor NMDA type subunit 2A
Dynodwyr allanol	OMIM: 138253 HomoloGene: 645 GeneCards: GRIN2A
Patrwm RNA pattern
	Rhagor o gyfeiriadau
Ontoleg y genyn
Gweithrediad moleciwlaidd	• calcium channel activity; • zinc ion binding; • NMDA glutamate receptor activity; • metal ion binding; • ion channel activity; • GO:0001948, GO:0016582 protein binding; • ionotropic glutamate receptor activity; • cation channel activity; • extracellularly glutamate-gated ion channel activity; • amyloid-beta binding; • glutamate-gated calcium ion channel activity; • signaling receptor activity;
Cydrannau o'r gell	• integral component of membrane; • postsynaptic membrane; • bilen; • synaptic vesicle; • GO:0097483, GO:0097481 postsynaptic density; • Cellbilen; • synapse; • integral component of plasma membrane; • NMDA selective glutamate receptor complex; • cell surface; • cell junction; • Reticwlwm endoplasmig; • neuron projection; • presynaptic membrane; • postsynaptic density membrane; • integral component of postsynaptic density membrane; • synaptic membrane; • glutamatergic synapse; • cell projection; • dendritic spine;
Prosesau biolegol	• visual learning; • GO:0034613 protein localization; • glutamate receptor signaling pathway; • neurogenesis; • startle response; • regulation of sensory perception of pain; • positive regulation of long-term synaptic potentiation; • GO:1903363 negative regulation of protein catabolic process; • response to amphetamine; • regulation of membrane potential; • directional locomotion; • modulation of chemical synaptic transmission; • Cof; • serotonin metabolic process; • cludo ïon; • learning; • cation transmembrane transport; • MAPK cascade; • regulation of synaptic plasticity; • Cwsg; • dopamine metabolic process; • ionotropic glutamate receptor signaling pathway; • response to wounding; • calcium ion transmembrane transport; • locomotion; • regulation of postsynaptic membrane potential; • excitatory postsynaptic potential; • learning or memory; • positive regulation of apoptotic process; • sensory perception of pain; • response to ethanol; • calcium ion transport; • long-term potentiation; • chemical synaptic transmission; • GO:0032320, GO:0032321, GO:0032855, GO:0043089, GO:0032854 positive regulation of GTPase activity; • cludo transmembrane rhwng ïonau; • regulation of ion transmembrane transport; • GO:0015915 transport; • brain development; • calcium-mediated signaling; • activation of cysteine-type endopeptidase activity; • GO:0060401 calcium ion transmembrane import into cytosol; • excitatory chemical synaptic transmission; • protein localization to postsynaptic membrane; • cellular response to amyloid-beta; • regulation of NMDA receptor activity;
	Sources:Amigo / QuickGO
Orthologau
	2903
	n/a
	ENSG00000183454
	n/a
	Q12879
	n/a
	NM_000833; NM_001134407; NM_001134408
	n/a
	NP_000824; NP_001127879; NP_001127880
	n/a
	Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn GRIN2A yw GRIN2A a elwir hefyd yn Glutamate ionotropic receptor NMDA type subunit 2A (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn ôl o gromosom dynol 16, band 16p13.2.^[2]

Cyfystyron[golygu | golygu cod]

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn GRIN2A.

LKS
EPND
FESD
NR2A
GluN2A
NMDAR2A

Llyfryddiaeth[golygu | golygu cod]

"Caffeine, creatine, GRIN2A and Parkinson's disease progression. ". J Neurol Sci. 2017. PMID 28320167.
"A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia. ". PLoS One. 2017. PMID 28182669.
"Functional Evaluation of a De Novo GRIN2AMutation Identified in a Patient with Profound Global Developmental Delay and Refractory Epilepsy. ". Mol Pharmacol. 2017. PMID 28126851.
"Epilepsy in patients with GRIN2A alterations: Genetics, neurodevelopment, epileptic phenotype and response to anticonvulsive drugs. ". Eur J Paediatr Neurol. 2017. PMID 28109652.
GRIN2A-Related Speech Disorders and Epilepsy. 1993. PMID 27683935.

Cyfeiriadau[golygu | golygu cod]

[1] "Human PubMed Reference:".

[2] GRIN2A - Cronfa NCBI

[1]

[2]