Muts Homolog 2

Alternative Names

MSH2
Muts, E. Coli, Homolog 2

Length

260,178 bases

No. of Exons

No. of isoforms

Protein Name

DNA Mismatch Repair Protein MSH2

Molecular Mass

104743 Da

Amino Acid Count

934

Genomic Location

chr2:47,403,066-47,634,500

Gene Map Locus

2p21-p16

Description

The MSH2 gene encodes a protein involved in the post-replication repair of mismatched DNA. The MSH2 protein forms a heterodimer with MHS6 called MutS alpha and with MHS3 called MutS beta. These heterodimers bind to mismatches in the DNA strand, thereby initiating DNA repair.

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NC_000002.12:g.47584496_47665383del	United Arab Emirates	NC_000002.12:g.47584496_47665383del		Likely Pathogenic	Diarrhea 5, with Tufting Enteropathy, Congenital; Mismatch Repair Cancer Syndrome 2
NM_000251.3:c.1045C>G	Lebanon	NC_000002.12:g.47416398C>G	Likely Benign, Uncertain Significance	Uncertain Significance	Breast Cancer	NG_007110.2:g.18275C>G; NM_000251.3:c.1045C>G; NP_000242.1:p.Pro349Ala	267607939	90512
NM_000251.3:c.1182T>G	Lebanon	chr2:47429847		Uncertain Significance	Breast Cancer	NG_007110.2:g.31724T>G; NM_000251.3:c.1182T>G; NP_000242.1:p.Phe394Leu	374135434	127627
NM_000251.3:c.1787A>G	Lebanon	chr2:47475052	Benign, Likely Benign	Uncertain Significance	Breast Cancer	NG_007110.2:g.76929A>G; NM_000251.3:c.1787A>G; NP_000242.1:p.Asn596Ser	41295288	41646
NM_000251.3:c.965G>A	Lebanon	chr2:47416318	Benign	Uncertain Significance	Breast Cancer	NG_007110.2:g.18195G>A; NM_000251.3:c.965G>A; NP_000242.1:p.Gly322Asp	4987188	1762
NM_001258281.1:c.447+1G>A	Lebanon	chr2:47410373	Pathogenic	Pathogenic	Breast Cancer; Lynch Syndrome I	NG_007110.2:g.12250G>A; NM_001258281.1:c.447+1G>A	267607689	91155

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Other Reports

United Arab Emirates

In a retrospective study of breast cancer patients in the UAE, Altinoz et al (2020) identified an Emirati patient with a variant of uncertain significance in the MSH2 gene.

External Links

https://medlineplus.gov/genetics/gene/msh2/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=MSH2

Contributors

Pratibha Nair: 23.06.2022
Pratibha Nair: 14.02.2022
Sayeeda Hana: 17.03.2020

Edit History

Pratibha Nair: 23.06.2022
Pratibha Nair: 14.02.2022
Pratibha Nair: 07.09.2020
Sayeeda Hana: 17.03.2020

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