MSH5 - mutS homolog 5 Gene

Homo sapiens

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

Gene ID: 4439 | Gene type: protein coding

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

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

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08712	MSH5 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

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