MSH2

MSH2
Estructuras disponibles
PDB	Búsqueda ortóloga: PDBe RCSB
Lista de codigos id de PDB
	2O8B, 2O8C, 2O8D, 2O8E, 2O8F, 3THW, 3THX, 3THY, 3THZ
Identificadores
Alias	MSH2, mutS homolog 2, COCA1, FCC1, HNPCC, HNPCC1, LCFS2, hMMRCS2, MSH-2
IDs externos	OMIM: 609309 MGI: 101816 HomoloGene: 210 GeneCards: MSH2
Enfermedades genéticamente relacionadas
	Síndrome de Muir-Torre, Síndrome de Turcot, cáncer colorrectal, Síndrome de Lynch, cáncer del intestino grueso, colon carcinoma
Ontología génica
Función molecular	• 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 unión a proteína plasmática; • 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;
Componente celular	• MutSbeta complex; • membrana; • MutSalpha complex; • Nucleoplasma; • mismatch repair complex; • núcleo celular; • cromosoma;
Proceso biológico	• 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; • fosforilación oxidativa; • 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 reparación del 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; • Conmutación de clase de inmunoglobulina; • protein localization to chromatin; • recombinación del ADN;
	Fuentes: Amigo / QuickGO
Patrón de la expressión del ARN
	Más referencias a datos de expressión
Ortólogos
	4436
	17685
	ENSG00000095002
	ENSMUSG00000024151
	P43246
	P43247
	NM_000251; NM_001258281
	NM_008628
	NP_000242; NP_001245210
	NP_032654
	Wikidata
Ver/Editar Humano	Ver/Editar Ratón

PDBBúsqueda ortóloga: PDBe RCSB

AliasMSH2, mutS homolog 2, COCA1, FCC1, HNPCC, HNPCC1, LCFS2, hMMRCS2, MSH-2

IDs externosOMIM: 609309 MGI: 101816 HomoloGene: 210 GeneCards: MSH2

Función molecular

• 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 unión a proteína plasmática
• 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

MSH2 es un gen humano que se encuentra situado en el brazo corto del cromosoma 2, entre las bases 47.630.205 y 47.710.366. Codifica una proteína que juega un papel muy importante en la reparación de los errores que se producen durante el proceso de replicación de la molécula de ADN. El gen MSH2 se encuentra frecuentemente mutado en el síndrome de Lynch, condición hereditaria que incrementa la probabilidad de presentar varios tipos de cáncer.^[4]^[5]^[6]

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MSH2

Referencias

Enlaces externos

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