Version 2.78

Description

The MSH2 gene (mutS homolog 2) [HGNC Gene ID:7325] is located on chromosomal band 2p21. This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC), also known as Lynch syndrome. When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] [NCBI Gene ID:4436] Source: National Center for Biotechnology Information (NCBI) Gene

Reference Information

Type Source Reference
Webcontent Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. Link to OMIM

Basic Part Properties

Part Name
MSH2 gene
Part Display Name
MSH2 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2004-11-03
Construct for LOINC Short Name
MSH2 gene

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP34722-6
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP34722-6

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) MSH2 基因
Synonyms: BAT-26;COCA1;FCC1;HNPCC;HNPCC1;结肠癌, 非多发性息肉 1 型;结肠癌, 非息肉病 1 型
et-EE Estonian (Estonia) MSH2 geen
es-ES Spanish (Spain) Gen MSH2.
it-IT Italian (Italy) MSH2, gene
Synonyms: Gene MSH2
tr-TR Turkish (Turkey) MSH2 geni
ru-RU Russian (Russian Federation) MSH2 ген
nl-NL Dutch (Netherlands) MSH2-gen
Synonyms: MSH2 gen