Identity
HGNC
LOCATION
6p21.33
LOCUSID
ALIAS
G7,MUTSH5,NG23,POF13
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 4439
MIM: 603382
HGNC: 7328
Ensembl: ENSG00000204410
Variants:
dbSNP: 4439
ClinVar: 4439
TCGA: ENSG00000204410
COSMIC: MSH5
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Cell Cycle | REACTOME | R-HSA-1640170 |
| Meiosis | REACTOME | R-HSA-1500620 |
| Meiotic recombination | REACTOME | R-HSA-912446 |
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA443622 | Carcinoma, Non-Small-Cell Lung | Disease | ClinicalAnnotation | associated | PD | 31616045 | |
| PA445846 | Thrombocytopenia | Disease | ClinicalAnnotation | associated | PD | 31616045 | |
| PA448803 | carboplatin | Chemical | ClinicalAnnotation | associated | PD | 31616045 | |
| PA449748 | gemcitabine | Chemical | ClinicalAnnotation | associated | PD | 31616045 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34980881 | 2022 | Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing. | 4 |
| 35742973 | 2022 | A Homozygous Loss-of-Function Mutation in MSH5 Abolishes MutSγ Axial Loading and Causes Meiotic Arrest in NOA-Affected Individuals. | 2 |
| 34980881 | 2022 | Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing. | 4 |
| 35742973 | 2022 | A Homozygous Loss-of-Function Mutation in MSH5 Abolishes MutSγ Axial Loading and Causes Meiotic Arrest in NOA-Affected Individuals. | 2 |
| 34755185 | 2021 | Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes. | 14 |
| 34755185 | 2021 | Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes. | 14 |
| 32112110 | 2020 | Long noncoding RNA HCP5 participates in premature ovarian insufficiency by transcriptionally regulating MSH5 and DNA damage repair via YB1. | 52 |
| 32306546 | 2020 | Association of hMSH5 C85T polymorphism with radiation sensitivity of testicular cell lines GC-1, GC-2, TM3, and TM4. | 2 |
| 32112110 | 2020 | Long noncoding RNA HCP5 participates in premature ovarian insufficiency by transcriptionally regulating MSH5 and DNA damage repair via YB1. | 52 |
| 32306546 | 2020 | Association of hMSH5 C85T polymorphism with radiation sensitivity of testicular cell lines GC-1, GC-2, TM3, and TM4. | 2 |
| 28093084 | 2017 | Association between DNA mismatch repair gene polymorphisms and platinum-based chemotherapy toxicity in non-small cell lung cancer patients. | 9 |
| 28175301 | 2017 | Mutations in MSH5 in primary ovarian insufficiency. | 39 |
| 28093084 | 2017 | Association between DNA mismatch repair gene polymorphisms and platinum-based chemotherapy toxicity in non-small cell lung cancer patients. | 9 |
| 28175301 | 2017 | Mutations in MSH5 in primary ovarian insufficiency. | 39 |
| 26055704 | 2015 | hMSH5 Facilitates the Repair of Camptothecin-induced Double-strand Breaks through an Interaction with FANCJ. | 10 |
Citation
Dessen P
MSH5 (mutS homolog 5)
Atlas Genet Cytogenet Oncol Haematol. 2003-02-01
Online version: http://atlasgeneticsoncology.org/gene/343/msh5-(muts-homolog-5)
