UBE2A

UBE2A
Dynodwyr
Cyfenwau	UBE2A, HHR6A, MRXS30, MRXSN, RAD6A, UBC2, ubiquitin conjugating enzyme E2 A
Dynodwyr allanol	OMIM: 312180 HomoloGene: 68308 GeneCards: UBE2A
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • transferase activity • nucleotide binding • GO:1904264, GO:1904822, GO:0090622, GO:0090302 ubiquitin protein ligase activity • GO:0050372 ubiquitin-protein transferase activity • GO:0001948, GO:0016582 protein binding • ATP binding • ubiquitin binding • ubiquitin protein ligase binding • ubiquitin conjugating enzyme activity Cydrannau o'r gell • cytoplasm • cytosol • HULC complex • nucleoplasm • chromatin • XY body Prosesau biolegol • histone H2A ubiquitination • postreplication repair • ubiquitin-dependent protein catabolic process • protein polyubiquitination • cellular response to DNA damage stimulus • protein K11-linked ubiquitination • protein K48-linked ubiquitination • positive regulation of cell population proliferation • response to UV • GO:0100026 DNA repair • proteasome-mediated ubiquitin-dependent protein catabolic process • protein autoubiquitination • protein ubiquitination • in utero embryonic development • maternal process involved in female pregnancy • GO:0031497, GO:0006336, GO:0034724, GO:0001301, GO:0007580, GO:0034652, GO:0010847 chromatin organization • blastocyst hatching Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	7319	n/a
Ensembl	ENSG00000077721	n/a
UniProt	P49459	n/a
RefSeq (mRNA)	NM_181777 NM_001282161 NM_003336 NM_181762	n/a
RefSeq (protein)	NP_001269090 NP_003327 NP_861427	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 UBE2A yw UBE2A a elwir hefyd yn Ubiquitin conjugating enzyme E2 A (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 X dynol, band Xq24.

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 UBE2A.

• UBC2
• HHR6A
• MRXSN
• RAD6A
• MRXS30

Llyfryddiaeth

• "UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome. ". Am J Hum Genet. 2006. PMID 16909393.
• "RAD6 promotes DNA repair and stem cell signaling in ovarian cancer and is a promising therapeutic target to prevent and treat acquired chemoresistance. ". Oncogene. 2017. PMID 28806395.
• "UBE2A deficiency syndrome: a report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene. ". Am J Med Genet A. 2015. PMID 25287747.
• "UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients. ". Am J Med Genet A. 2010. PMID 21108393.
• "Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome.". Clin Genet. 2010. PMID 20412111.