MSH2

MSH2
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 2O8B, 2O8C, 2O8D, 2O8E, 2O8F, 3THW, 3THX, 3THY, 3THZ
Dynodwyr
Cyfenwau	MSH2, mutS homolog 2, COCA1, FCC1, HNPCC, HNPCC1, LCFS2, hMMRCS2, MSH-2
Dynodwyr allanol	OMIM: 609309 HomoloGene: 210 GeneCards: MSH2
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • DNA binding • nucleotide binding • protein homodimerization activity • mismatched DNA binding • dinucleotide insertion or deletion binding • ADP binding • centromeric DNA binding • oxidized purine DNA binding • single-stranded DNA binding • damaged DNA binding • ATPase activity • protein C-terminus binding • GO:0001948, GO:0016582 protein binding • single thymine insertion binding • four-way junction DNA binding • MutLalpha complex binding • enzyme binding • double-stranded DNA binding • dinucleotide repeat insertion binding • ATP binding • protein kinase binding • magnesium ion binding • single guanine insertion binding • guanine/thymine mispair binding • Y-form DNA binding • heteroduplex DNA loop binding • double-strand/single-strand DNA junction binding • ATP-dependent activity, acting on DNA • chromatin binding Cydrannau o'r gell • MutSbeta complex • bilen • MutSalpha complex • nucleoplasm • mismatch repair complex • cnewyllyn cell • Cromosom Prosesau biolegol • GO:1904089 negative regulation of neuron apoptotic process • germ cell development • male gonad development • postreplication repair • determination of adult lifespan • in utero embryonic development • cellular response to DNA damage stimulus • oxidative phosphorylation • maintenance of DNA repeat elements • positive regulation of helicase activity • somatic recombination of immunoglobulin gene segments • intrinsic apoptotic signaling pathway in response to DNA damage • negative regulation of DNA recombination • somatic recombination of immunoglobulin genes involved in immune response • DNA mismatch repair • B cell differentiation • B cell mediated immunity • GO:0100026 DNA repair • positive regulation of isotype switching to IgA isotypes • positive regulation of isotype switching to IgG isotypes • double-strand break repair • meiotic gene conversion • response to X-ray • response to UV-B • somatic hypermutation of immunoglobulin genes • mitotic intra-S DNA damage checkpoint signaling • intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator • negative regulation of reciprocal meiotic recombination • isotype switching • protein localization to chromatin • DNA recombination Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	4436	n/a
Ensembl	ENSG00000095002	n/a
UniProt	P43246	n/a
RefSeq (mRNA)	NM_000251 NM_001258281	n/a
RefSeq (protein)	NP_000242 NP_001245210	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 MSH2 yw MSH2 a elwir hefyd yn MutS homolog 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 2, band 2p21-p16.3.

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 MSH2.

• FCC1
• COCA1
• HNPCC
• LCFS2
• HNPCC1

Llyfryddiaeth

• "Predicting the impact of Lynch syndrome-causing missense mutations from structural calculations. ". PLoS Genet. 2017. PMID 28422960.
• "Overexpression of MutSα Complex Proteins Predicts Poor Prognosis in Oral Squamous Cell Carcinoma. ". Medicine (Baltimore). 2016. PMID 27258499.
• "Causes of Cancer Death Among First-Degree Relatives in Japanese Families with Lynch Syndrome. ". Anticancer Res. 2016. PMID 27069191.
• "Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants. ". Proc Natl Acad Sci U S A. 2016. PMID 26951660.
• "A cryptic paracentric inversion of MSH2 exons 2-6 causes Lynch syndrome.". Carcinogenesis. 2016. PMID 26498247.