SCN2A

SCN2A
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 2KAV, 4JPZ
Dynodwyr
Cyfenwau	SCN2A, BFIC3, BFIS3, BFNIS, EIEE11, HBA, HBSCI, HBSCII, NAC2, Na(v)1.2, Nav1.2, SCN2A1, SCN2A2, sodium voltage-gated channel alpha subunit 2, DEE11, EA9
Dynodwyr allanol	OMIM: 182390 HomoloGene: 75001 GeneCards: SCN2A
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • sodium channel activity • voltage-gated ion channel activity • ion channel activity • voltage-gated sodium channel activity Cydrannau o'r gell • voltage-gated sodium channel complex • integral component of membrane • bilen • intrinsic component of plasma membrane • sodium channel complex • Cellbilen • node of Ranvier • integral component of plasma membrane • intracellular anatomical structure • intercalated disc • T-tubule • axon • paranode region of axon • glutamatergic synapse • integral component of presynaptic membrane Prosesau biolegol • membrane depolarization during action potential • sodium ion transport • regulation of ion transmembrane transport • cludo ïon • transmembrane transport • myelination • neuronal action potential • sodium ion transmembrane transport • nervous system development • intrinsic apoptotic signaling pathway in response to osmotic stress • neuron apoptotic process • Cof • cellular response to hypoxia Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	6326	n/a
Ensembl	ENSG00000136531	n/a
UniProt	Q99250	n/a
RefSeq (mRNA)	NM_001040142 NM_001040143 NM_021007 NM_001371246 NM_001371247	n/a
RefSeq (protein)	NP_001035232 NP_001035233 NP_066287 NP_001358175 NP_001358176	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn SCN2A yw SCN2A a elwir hefyd yn Sodium voltage-gated channel alpha subunit 2 (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn blaen o gromosom dynol 2, band 2q24.3.

Cyfystyron

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 SCN2A.

• HBA
• NAC2
• BFIC3
• BFIS3
• BFNIS
• HBSCI
• EIEE11
• HBSCII
• Nav1.2
• SCN2A1
• SCN2A2
• Na(v)1.2

Llyfryddiaeth

• "Mutation screening of SCN2A in schizophrenia and identification of a novel loss-of-function mutation. ". Psychiatr Genet. 2016. PMID 26555645.
• "SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures. ". Neurology. 2015. PMID 26291284.
• "Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. ". Brain. 2017. PMID 28379373.
• "Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. ". J Med Genet. 2016. PMID 26993267.
• "Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia.". J Neurol. 2016. PMID 26645390.