1. Gene
  2. MSH4 - mutS homolog 4 Gene

MSH4 - mutS homolog 4 Gene

Homo sapiens

Also known as POF20; SPGF2

Gene ID: 4438 | Gene type: protein coding

About MSH4

Cytogenetic location: 1p31.1 Genomic coordinates (GRCh38): 1:75,796,882-75,913,242 (from NCBI)

This gene has 1 transcript (splice variant), 202 orthologues and 4 paralogues. Biased expression in testis (RPKM 2.6) and small intestine (RPKM 0.1).

Summary

This gene encodes a member of the DNA mismatch repair mutS family. This member is a meiosis-specific protein that is not involved in DNA mismatch correction, but is required for reciprocal recombination and proper segregation of homologous chromosomes at meiosis I. This protein and MSH5 form a heterodimer which binds uniquely to a Holliday Junction and its developmental progenitor, thus provoking ADP-ATP exchange, and stabilizing the interaction between parental chromosomes during meiosis double-stranded break repair. [provided by RefSeq, Aug 2011]

MSH4 Products(1)

mRNA Protein Name
NM_002440.4 NP_002431.2 mutS protein homolog 4

MSH4 Protein Structure

MutS_II

MutS_II: MutS domain II (155 - 292)

MutS_III

MutS_III: MutS domain III (315 - 628)

MutS_IV

MutS_IV: MutS family domain IV (493 - 584)

MutS_V

MutS_V: MutS domain V (635 - 870)

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  • 936 a.a.
Protein Preferred Names Protein Names

mutS protein homolog 4

hMSH4

MSH4 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
MSH4 O15457 MSH5 Homo sapiens O43196
Protein 3 Hybrid
16397227
Intra
MSH4 O15457 MSH5 Homo sapiens O43196
Y2H
16397227
Intra
MSH4 O15457 EIF3F Homo sapiens O00303
Pull Down
23725059
Intra
MSH4 O15457 EIF3F Homo sapiens O00303
Y2H
23725059
Intra
MSH4 O15457 EIF3F Homo sapiens O00303
Anti Tag CoIP
23725059
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Spermatogenic Failure 2

SPGF2

Aspermiogenesis Factor

Asg

Premature Ovarian Failure 20

POF20

Oligospermia
Premature Menopause

Primary Ovarian Insufficiency

Premature Ovarian Failure

Hypergonadotropic Hypogonadism

Premature Ovarian Insufficiency

Menopause - Premature

Menopause Praecox

Menopause Premature

Menopause, Premature

Female Hypergonadotropic Hypogonadism

Hypergonadotrophic Ovarian Failure

Primary Female Hypogonadism

Pof - [Premature Ovarian Failure]

Ovarian Failure

Ovarian Secretion Suppression

Ovary Hyposecretion

Ovary Secretion Deficiency

Premature Menopause Nos

Genetic Non-Acquired Premature Ovarian Failure
Immunodeficiency 25

Immunodeficiency Due To Defect In Cd3-Zeta

IMD25

Immunodeficiency, Type 25

Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia

Spermatogenic Failure

Azoospermia

Spgf

Spermatogenic Failure, Susceptibility To

Absent Sperm

Aspermatogenesis

Infertility Due To Azoospermia

Hypospermatogenesis

Azoospermatism

Lynch Syndrome

Hereditary Nonpolyposis Colon Cancer

Hereditary Nonpolyposis Colorectal Cancer

Hereditary Nonpolyposis Colorectal Carcinoma

Hereditary Nonpolyposis Colorectal Neoplasms

Familial Nonpolyposis Colon Cancer

Hnpcc

Coca 1

Hereditary Defective Mismatch Repair Syndrome

Hereditary Non-Polyposis Colon Cancer

Hereditary Non-Polyposis Colon Cancer Syndrome

Hereditary Non-Polyposis Colorectal Cancer

Hereditary Non-Polyposis Colorectal Cancer Syndrome

Hereditary Nonpolyposis Colon Cancer Syndrome

Hereditary Nonpolyposis Colorectal Cancer Syndrome

Hereditary Nonpolyposis Colorectal Neoplasm

Hnpcc - Hereditary Nonpolyposis Colon Cancer

Cancer Family Syndrome

Familial Nonpolyposis Colorectal Cancer

Colon Cancer, Familial Nonpolyposis

Colorectal Neoplasms, Hereditary Nonpolyposis

Cancer, Colorectal, Nonpolyposis, Hereditary

Colorectal Cancer, Hereditary Nonpolyposis, Type 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta MSH4 VGNC VGNC:74933
Canis familiaris MSH4 VGNC VGNC:43440
Mus musculus MSH4 MGD MGI:1860077
Felis catus MSH4 VGNC VGNC:107586
Rattus norvegicus MSH4 RGD RGD:1309190
Bos taurus MSH4 VGNC VGNC:31695