MSH4 (mutS homolog 4)

2003-12-01  

Identity

HGNC
MSH4
LOCATION
1p31.1
LOCUSID
4438
ALIAS
-
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

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

References

Pubmed IDYearTitleCitations
381752722024A novel homozygote nonsense variant of MSH4 leads to primary ovarian insufficiency and non-obstructive azoospermia.1
381752722024A novel homozygote nonsense variant of MSH4 leads to primary ovarian insufficiency and non-obstructive azoospermia.1
376209422023Identification of compound heterozygous variants in MSH4 as a novel genetic cause of diminished ovarian reserve.1
376209422023Identification of compound heterozygous variants in MSH4 as a novel genetic cause of diminished ovarian reserve.1
350904892022Novel bi-allelic MSH4 variants causes meiotic arrest and non-obstructive azoospermia.5
350904892022Novel bi-allelic MSH4 variants causes meiotic arrest and non-obstructive azoospermia.5
331124352021Semiquantitative promoter methylation of MLH1 and MSH2 genes and their impact on sperm DNA fragmentation and chromatin condensation in infertile men.4
334482842021Rare missense variant in MSH4 associated with primary gonadal failure in both 46, XX and 46, XY individuals.11
347551852021Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes.14
331124352021Semiquantitative promoter methylation of MLH1 and MSH2 genes and their impact on sperm DNA fragmentation and chromatin condensation in infertile men.4
334482842021Rare missense variant in MSH4 associated with primary gonadal failure in both 46, XX and 46, XY individuals.11
347551852021Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes.14
285414212017A homozygous donor splice-site mutation in the meiotic gene MSH4 causes primary ovarian insufficiency.35
285414212017A homozygous donor splice-site mutation in the meiotic gene MSH4 causes primary ovarian insufficiency.35
250418562014TP53, 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

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