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MSH5 - mutS homolog 5 Gene

Also Known as G7; NG23; POF13; MUTSH5; SPGF74

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4439

About MSH5

Cytogenetic location: 6p21.33 Genomic coordinates (GRCh38): 6:31,740,005-31,762,676 (from NCBI)

This gene has 21 transcripts (splice variants), 1 gene allele, 197 orthologues, 4 paralogues and is associated with 2 phenotypes. Broad expression in testis (RPKM 8.9), bone marrow (RPKM 7.5) and 23 other tissues.

Summary

This gene encodes a member of the mutS family of proteins that are involved in DNA mismatch repair and meiotic recombination. This protein is similar to a Saccharomyces cerevisiae protein that participates in segregation fidelity and crossing-over events during meiosis. This protein plays a role in promoting ionizing radiation-induced Apoptosis. This protein forms hetero-oligomers with another member of this family, mutS homolog 4. Polymorphisms in this gene have been linked to various human diseases, including IgA deficiency, common variable immunodeficiency, and premature ovarian failure. Alternative splicing results multiple transcript variants. Read-through transcription also exists between this gene and the downstream chromosome 6 open reading frame 26 (C6orf26) gene. [provided by RefSeq, Feb 2011]

MSH5 Products (4)

mRNA	Protein	Name
NM_002441.5	NP_002432.1	mutS protein homolog 5 isoform c
NM_025259.6	NP_079535.4	mutS protein homolog 5 isoform a
NM_172165.4	NP_751897.1	mutS protein homolog 5 isoform b
NM_172166.4	NP_751898.1	mutS protein homolog 5 isoform c

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16397227	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MSH5 Protein Structure

MutS_III

MutS_IV

MutS_V

0
200
400
600
834 a.a.

Protein Preferred Names	Protein Names
mutS protein homolog 5

MSH5 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	MSH5	O43196	ABL1	Homo sapiens	P00519	Protein 3 Hybrid	16397227
Intra	MSH5	O43196	ABL1	Homo sapiens	P00519	Anti Bait CoIP	16397227
Intra	MSH5	O43196	ABL1	Homo sapiens	P00519	Y2H	16397227
Intra	MSH5	O43196	ABL1	Homo sapiens	P00519	Anti Tag CoIP	19442657
Intra	MSH5	O43196	ABL1	Homo sapiens	P00519	TAP	16397227
Intra	MSH5	O43196	ABL1	Homo sapiens	P00519	Pull Down	16397227
Intra	MSH5	O43196	ABL1	Homo sapiens	P00519	Anti Bait CoIP	19442657
Intra	MSH5	O43196	MSH4	Homo sapiens	O15457	Anti Bait CoIP	22401567
Intra	MSH5	O43196	MSH4	Homo sapiens	O15457	Y2H	16397227
Intra	MSH5	O43196	MSH4	Homo sapiens	O15457	Protein 3 Hybrid	16397227

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Premature Ovarian Failure 13	POF13
Spermatogenic Failure 74	SPGF74
Genetic Non-Acquired Premature Ovarian Failure
Spermatogenic Failure	Azoospermia Spgf Spermatogenic Failure, Susceptibility To Absent Sperm Aspermatogenesis Infertility Due To Azoospermia Hypospermatogenesis Azoospermatism
Pulmonary Embolism And Infarction
Common Variable Immunodeficiency	Cvid Common Variable Agammaglobulinemia Common Variable Immune Deficiency Acquired Hypogammaglobulinemia Hypogamma-Globulinemia, Acquired Idiopathic Immunoglobulin Deficiency Primary Antibody Deficiency Primary Hypogammaglobulinemia Acquired Agammaglobulinemia Sporadic Hypogammaglobulinemia Common Variable Hypogamma-Globulinemia Immunoglobulin Deficiency, Late-Onset Common Variable Hypogammaglobulinemia Immunodeficiency, Common Variable
Infertility
Immunodeficiency 25	Immunodeficiency Due To Defect In Cd3-Zeta IMD25 Immunodeficiency, Type 25
Transient Hypogammaglobulinemia Of Infancy	Immunoglobulin Maturational Delay Thi - [Transient Hypogammaglobulinaemia Of Infancy]
Transient Hypogammaglobulinemia
Immunoglobulin A Deficiency 1	Immunoglobulin A Deficiency Selective Iga Deficiency Disease Selective Immunoglobulin A Deficiency IGAD1 Immunoglobulin A, Selective Deficiency Of Iga, Selective Deficiency Of Gamma-A-Globulin, Selective Deficiency Of Selective Iga Immunodeficiency Selective Iga Deficiency Iga Deficiency Selective
Immunoglobulin Alpha Deficiency	Iga Deficiency Gamma-A-Globulin Deficiency Immunoglobulin A Deficiency
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
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS08712	MSH5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	MSH5	RGD	RGD:1303008
Mus musculus	MSH5	MGD	MGI:1329021