MSH2

MSH2
Structures disponibles PDB Recherche d'orthologue : PDBe RCSB Identifiants PDB 2O8B, 2O8C, 2O8D, 2O8E, 2O8F, 3THW, 3THX, 3THY, 3THZ
Identifiants
Alias	MSH2
IDs externes	OMIM: 609309 MGI: 101816 HomoloGene: 210 GeneCards: MSH2
Position du gène (humain) Chr. Chromosome 2 humain Locus 2p21-p16.3 Début 47,403,067 bp Fin 47,663,146 bp
Position du gène (souris) Chr. Chromosome 17 (souris) Locus 17 E4|17 57.87 cM Début 87,979,758 bp Fin 88,031,141 bp
Expression génique Bgee Humain Souris (orthologue) Fortement exprimé dans secondary oocyte ventricular zone éminence ganglionnaire gonade épithélium pigmentaire rétinien testicule gyrus frontal moyen Brodmann area 10 rectum cerebellar hemisphere Fortement exprimé dans ligne primitive saccule épiblaste otic placode Vesicula otica tail of embryo somite zygote secondary oocyte paroi abdominale Plus de données d'expression de référence BioGPS Plus de données d'expression de référence
Gene Ontology Fonction moléculaire liaison ADN liaison nucléotide 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 activité ATPase protein C-terminus binding liaison protéique single thymine insertion binding four-way junction DNA binding MutLalpha complex binding liaison enzymatique double-stranded DNA binding dinucleotide repeat insertion binding liaison ATP 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 liaison de chromatine Composant cellulaire MutSbeta complex membrane MutSalpha complex nucléoplasme mismatch repair complex noyau chromosome Processus biologique 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 phosphorylation oxydative 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 Mismatch repair B cell differentiation B cell mediated immunity réparation de l'ADN 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 commutation isotypique protein localization to chromatin DNA recombination Sources:Amigo / QuickGO
Orthologues Espèces Homme Souris Entrez 4436 17685 Ensembl ENSG00000095002 ENSMUSG00000024151 UniProt P43246 P43247 RefSeq (mRNA) NM_000251 NM_001258281 NM_008628 RefSeq (protéine) NP_000242 NP_001245210 NP_032654 Localisation (UCSC) Chr 2: 47.4 – 47.66 Mb Chr 17: 87.98 – 88.03 Mb Publication PubMed
Wikidata
Voir/Editer Humain Voir/Editer Souris

MSH2 est un gène situé sur le chromosome 2 humain.

Maladies liées

• Syndrome de Lynch
• Syndrome de déficit constitutionnel de la réparation des mésappariements