FARS2

FARS2
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 3CMQ, 3HFV, 3TEG, 3TUP
Dynodwyr
Cyfenwau	FARS2, COXPD14, FARS1, HSPC320, PheRS, dJ520B18.2, phenylalanyl-tRNA synthetase 2, mitochondrial, SPG77, mtPheRS
Dynodwyr allanol	OMIM: 611592 HomoloGene: 4788 GeneCards: FARS2
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • ligase activity • nucleotide binding • GO:0001948, GO:0016582 protein binding • aminoacyl-tRNA ligase activity • ATP binding • tRNA binding • phenylalanine-tRNA ligase activity Cydrannau o'r gell • cytoplasm • mitochondrial matrix • mitocondria Prosesau biolegol • tRNA aminoacylation • protein biosynthesis • phenylalanyl-tRNA aminoacylation • tRNA aminoacylation for protein translation • tRNA processing Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	10667	n/a
Ensembl	ENSG00000145982	n/a
UniProt	O95363	n/a
RefSeq (mRNA)	NM_006567 NM_001318872	n/a
RefSeq (protein)	NP_001305801 NP_006558 NP_001361804 NP_001361805 NP_001361806 NP_001361807 NP_001361808 NP_001362186 NP_001362187 NP_001362188 NP_001362189	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 FARS2 yw FARS2 a elwir hefyd yn Phenylalanyl-tRNA synthetase 2, mitochondrial a Phenylalanine--tRNA ligase, mitochondrial (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 6, band 6p25.1.

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 FARS2.

• FARS1
• PheRS
• SPG77
• COXPD14
• HSPC320

Llyfryddiaeth

• "Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy. ". Hum Mol Genet. 2012. PMID 22833457.
• "Mitochondrial aminoacyl-tRNA synthetase single-nucleotide polymorphisms that lead to defects in refolding but not aminoacylation. ". J Mol Biol. 2011. PMID 21601574.
• "Kinetic and structural changes in HsmtPheRS, induced by pathogenic mutations in human FARS2. ". Protein Sci. 2017. PMID 28419689.
• "Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy. ". Am J Med Genet A. 2016. PMID 27549011.
• "Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblings.". Am J Med Genet A. 2015. PMID 25851414.