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: 4438
MIM: 602105
HGNC: 7327
Ensembl: ENSG00000057468
Variants:
dbSNP: 4438
ClinVar: 4438
TCGA: ENSG00000057468
COSMIC: MSH4
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000057468 | ENST00000263187 | O15457 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Cell Cycle | REACTOME | R-HSA-1640170 |
| Meiosis | REACTOME | R-HSA-1500620 |
| Meiotic recombination | REACTOME | R-HSA-912446 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38175272 | 2024 | A novel homozygote nonsense variant of MSH4 leads to primary ovarian insufficiency and non-obstructive azoospermia. | 1 |
| 38175272 | 2024 | A novel homozygote nonsense variant of MSH4 leads to primary ovarian insufficiency and non-obstructive azoospermia. | 1 |
| 37620942 | 2023 | Identification of compound heterozygous variants in MSH4 as a novel genetic cause of diminished ovarian reserve. | 1 |
| 37620942 | 2023 | Identification of compound heterozygous variants in MSH4 as a novel genetic cause of diminished ovarian reserve. | 1 |
| 35090489 | 2022 | Novel bi-allelic MSH4 variants causes meiotic arrest and non-obstructive azoospermia. | 5 |
| 35090489 | 2022 | Novel bi-allelic MSH4 variants causes meiotic arrest and non-obstructive azoospermia. | 5 |
| 33112435 | 2021 | Semiquantitative promoter methylation of MLH1 and MSH2 genes and their impact on sperm DNA fragmentation and chromatin condensation in infertile men. | 4 |
| 33448284 | 2021 | Rare missense variant in MSH4 associated with primary gonadal failure in both 46, XX and 46, XY individuals. | 11 |
| 34755185 | 2021 | Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes. | 14 |
| 33112435 | 2021 | Semiquantitative promoter methylation of MLH1 and MSH2 genes and their impact on sperm DNA fragmentation and chromatin condensation in infertile men. | 4 |
| 33448284 | 2021 | Rare missense variant in MSH4 associated with primary gonadal failure in both 46, XX and 46, XY individuals. | 11 |
| 34755185 | 2021 | Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes. | 14 |
| 28541421 | 2017 | A homozygous donor splice-site mutation in the meiotic gene MSH4 causes primary ovarian insufficiency. | 35 |
| 28541421 | 2017 | A homozygous donor splice-site mutation in the meiotic gene MSH4 causes primary ovarian insufficiency. | 35 |
| 25041856 | 2014 | TP53, MSH4, and LATS1 germline mutations in a family with clustering of nervous system tumors. | 12 |
Citation
Dessen P
MSH4 (mutS homolog 4)
Atlas Genet Cytogenet Oncol Haematol. 2003-12-01
Online version: http://atlasgeneticsoncology.org/gene/342/msh4
