PMS2

PMS2
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1EA6, 1H7S, 1H7U
Dynodwyr
Cyfenwau	PMS2, HNPCC4, PMS2CL, PMSL2, MLH4, PMS1 homolog 2, mismatch repair system component, MMRCS4, PMS-2
Dynodwyr allanol	OMIM: 600259 HomoloGene: 133560 GeneCards: PMS2
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • endonuclease activity • single-stranded DNA binding • ATP binding • mismatched DNA binding • DNA binding • MutSalpha complex binding • nuclease activity • GO:0001948, GO:0016582 protein binding • single base insertion or deletion binding • hydrolase activity • ATPase activity Cydrannau o'r gell • cnewyllyn cell • microtubule cytoskeleton • nucleoplasm • MutLalpha complex • cytosol • Cellbilen • cytoplasmic ribonucleoprotein granule • mismatch repair complex Prosesau biolegol • cellular response to DNA damage stimulus • somatic hypermutation of immunoglobulin genes • nucleic acid phosphodiester bond hydrolysis • GO:0100026 DNA repair • DNA mismatch repair Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	5395	n/a
Ensembl	ENSG00000122512	n/a
UniProt	P54278	n/a
RefSeq (mRNA)	NM_000535 NM_001322003 NM_001322004 NM_001322005 NM_001322006 NM_001322007 NM_001322008 NM_001322009 NM_001322010 NM_001322011 NM_001322012 NM_001322013 NM_001322014 NM_001322015	n/a
RefSeq (protein)	NP_000526 NP_001308932 NP_001308933 NP_001308934 NP_001308935 NP_001308936 NP_001308937 NP_001308938 NP_001308939 NP_001308940 NP_001308941 NP_001308942 NP_001308943 NP_001308944	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 PMS2 yw PMS2 a elwir hefyd yn PMS1 homolog 2, mismatch repair system component (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 7, band 7p22.1.

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 PMS2.

• MLH4
• PMSL2
• HNPCC4
• PMS2CL

Llyfryddiaeth

• "Identification of a novel PMS2 alteration c.505C>G (R169G) in trans with a PMS2 pathogenic mutation in a patient with constitutional mismatch repair deficiency. ". Fam Cancer. 2016. PMID 27017610.
• "A Comprehensive Strategy for Accurate Mutation Detection of the Highly Homologous PMS2. ". J Mol Diagn. 2015. PMID 26320870.
• "PMS2 gene mutation results in DNA mismatch repair system failure in a case of adult granulosa cell tumor. ". J Ovarian Res. 2017. PMID 28347324.
• "Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome. ". Hum Mutat. 2016. PMID 27435373.
• "PMS2 inactivation by a complex rearrangement involving an HERV retroelement and the inverted 100-kb duplicon on 7p22.1.". Eur J Hum Genet. 2016. PMID 27329736.