MSH4 (mutS homolog 4)

2003-12-01  

Identity

HGNC
LOCATION
1p31.1
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 4438
MIM: 602105
HGNC: 7327
Ensembl: ENSG00000057468

Variants:

dbSNP: 4438
ClinVar: 4438
TCGA: ENSG00000057468
COSMIC: MSH4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000057468ENST00000263187O15457

Expression (GTEx)

0
1
2
3
4
5
6
7

Pathways

PathwaySourceExternal ID
Cell CycleREACTOMER-HSA-1640170
MeiosisREACTOMER-HSA-1500620
Meiotic recombinationREACTOMER-HSA-912446

References

Pubmed IDYearTitleCitations
119481752002Mutations within the hMLH1 and hPMS2 subunits of the human MutLalpha mismatch repair factor affect its ATPase activity, but not its ability to interact with hMutSalpha.46
203786152010Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent.40
181668242008Genetic investigation of four meiotic genes in women with premature ovarian failure.24
181668242008Genetic investigation of four meiotic genes in women with premature ovarian failure.24
182703392008Comprehensive analysis of DNA repair gene variants and risk of meningioma.22
179778392008hMSH4-hMSH5 adenosine nucleotide processing and interactions with homologous recombination machinery.20
161229922006Formation of hMSH4-hMSH5 heterocomplex is a prerequisite for subsequent GPS2 recruitment.19
171273472007MutS homologues hMSH4 and hMSH5: diverse functional implications in humans.17
159078042005Two variants of MutS homolog hMSH5: prevalence in humans and effects on protein interaction.14
178692442007CRM1-dependent nuclear export and dimerization with hMSH5 contribute to the regulation of hMSH4 subcellular localization.7

Citation

Dessen P

MSH4 (mutS homolog 4)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/342/msh4