KCNA2

KCNA2
Dynodwyr
Cyfenwau	KCNA2, HBK5, HK4, HUKIV, KV1.2, MK2, NGK1, RBK2, EIEE32, potassium voltage-gated channel subfamily A member 2, DEE32
Dynodwyr allanol	OMIM: 176262 HomoloGene: 21034 GeneCards: KCNA2
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • potassium channel activity • voltage-gated ion channel activity • ion channel activity • GO:0001948, GO:0016582 protein binding • voltage-gated potassium channel activity • delayed rectifier potassium channel activity • outward rectifier potassium channel activity • kinesin binding Cydrannau o'r gell • juxtaparanode region of axon • axon terminus • integral component of membrane • perikaryon • cell projection • endoplasmic reticulum membrane • bilen • voltage-gated potassium channel complex • Cellbilen • synapse • integral component of plasma membrane • neuronal cell body membrane • axon • cell junction • dendrite • Reticwlwm endoplasmig • neuron projection • lamellipodium membrane • presynaptic membrane • lamellipodium • potassium channel complex • paranodal junction • calyx of Held • integral component of presynaptic membrane Prosesau biolegol • regulation of dopamine secretion • regulation of ion transmembrane transport • cludo ïon • optic nerve structural organization • potassium ion transport • transmembrane transport • potassium ion transmembrane transport • regulation of circadian sleep/wake cycle, non-REM sleep • protein homooligomerization • protein complex oligomerization • sensory perception of pain • neuronal action potential Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	3737	n/a
Ensembl	ENSG00000177301	n/a
UniProt	P16389	n/a
RefSeq (mRNA)	NM_001204269 NM_004974	n/a
RefSeq (protein)	NP_001191198 NP_004965	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 KCNA2 yw KCNA2 a elwir hefyd yn Potassium voltage-gated channel subfamily A member 2 (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 1, band 1p13.3.

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 KCNA2.

• HK4
• MK2
• HBK5
• NGK1
• RBK2
• HUKIV
• KV1.2
• EIEE32

Llyfryddiaeth

• "Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies. ". Brain. 2017. PMID 29050392.
• "Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy. ". Neurology. 2016. PMID 27733563.
• "A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia. ". Ann Neurol. 2016. PMID 27543892.
• "Determinants of frequency-dependent regulation of Kv1.2-containing potassium channels. ". Channels (Austin). 2016. PMID 26646078.
• "De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.". Nat Genet. 2015. PMID 25751627.