MSH4 - mutS homolog 4 Gene

Also Known as POF20; SPGF2

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 4438

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)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 936 a.a.
Protein Preferred Names Protein Names

mutS protein homolog 4

  • hMSH4

MSH4 Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
MSH4 O15457 MSH5 Homo sapiens O43196 16397227
Intra
MSH4 O15457 MSH5 Homo sapiens O43196
Y2H
16397227
Intra
MSH4 O15457 EIF3F Homo sapiens O00303 23725059
Intra
MSH4 O15457 EIF3F Homo sapiens O00303
Y2H
23725059
Intra
MSH4 O15457 EIF3F Homo sapiens O00303 23725059
Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

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

生物種 Symbol 由来 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
Others MSH4 NCBI