KCNJ2

Protein sy'n cael ei godio yn y corff dynol gan y genyn KCNJ2 yw KCNJ2 a elwir hefyd yn Potassium voltage-gated channel subfamily J member 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 17, band 17q24.3.

KCNJ2
Dynodwyr
Cyfenwau	KCNJ2, ATFB9, HHBIRK1, HHIRK1, IRK1, KIR2.1, LQT7, SQT3, potassium voltage-gated channel subfamily J member 2, potassium inwardly rectifying channel subfamily J member 2
Dynodwyr allanol	OMIM: 600681 HomoloGene: 20249 GeneCards: KCNJ2
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization • voltage-gated ion channel activity • identical protein binding • phosphatidylinositol-4,5-bisphosphate binding • inward rectifier potassium channel activity • G-protein activated inward rectifier potassium channel activity Cydrannau o'r gell • integral component of membrane • rough endoplasmic reticulum • Golgi apparatus • bilen • intercalated disc • T-tubule • voltage-gated potassium channel complex • Cellbilen • dendritic spine • integral component of plasma membrane • smooth endoplasmic reticulum • soma • dendrite • intrinsic component of membrane Prosesau biolegol • cardiac muscle cell action potential • regulation of ion transmembrane transport • magnesium ion transport • cardiac muscle cell action potential involved in contraction • cludo ïon • GO:0097301 cellular potassium ion homeostasis • potassium ion transport • regulation of cardiac muscle cell contraction • cellular response to mechanical stimulus • membrane repolarization during action potential • potassium ion transmembrane transport • positive regulation of potassium ion transmembrane transport • regulation of skeletal muscle contraction via regulation of action potential • regulation of resting membrane potential • regulation of membrane repolarization • relaxation of skeletal muscle • regulation of heart rate by cardiac conduction • membrane repolarization during cardiac muscle cell action potential • protein homotetramerization • relaxation of cardiac muscle • membrane depolarization during cardiac muscle cell action potential • potassium ion import across plasma membrane • cardiac conduction Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	3759	n/a
Ensembl	ENSG00000123700	n/a
UniProt	P63252	n/a
RefSeq (mRNA)	NM_000891	n/a
RefSeq (protein)	NP_000882	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

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 KCNJ2.

• IRK1
• LQT7
• SQT3
• ATFB9
• HHIRK1
• KIR2.1
• HHBIRK1

Llyfryddiaeth

• "Characterization of a novel KCNJ2 sequence variant detected in Andersen-Tawil syndrome patients. ". BMC Med Genet. 2017. PMID 29017447.
• "Atrial arrhythmogenicity of KCNJ2 mutations in short QT syndrome: Insights from virtual human atria. ". PLoS Comput Biol. 2017. PMID 28609477.
• "Conformational changes at cytoplasmic intersubunit interactions control Kir channel gating. ". J Biol Chem. 2017. PMID 28446610.
• "Association of KCNJ2 Genetic Variants with Susceptibility to Thyrotoxic Periodic Paralysis in Patients with Graves' Disease. ". Exp Clin Endocrinol Diabetes. 2017. PMID 28008586.
• "Identification of the KCNJ2 Mutation in a Korean Family with Andersen-Tawil Syndrome and Developmental Delay.". Ann Clin Lab Sci. 2016. PMID 26927354.