MSH5 (mutS homolog 5)

2003-02-01 Affiliation

Identity

HGNC

MSH5

LOCATION

6p21.33

LOCUSID

4439

ALIAS

G7,MUTSH5,NG23,POF13

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 4439
MIM: 603382
HGNC: 7328
Ensembl: ENSG00000204410

Variants:

dbSNP: 4439
ClinVar: 4439
TCGA: ENSG00000204410
COSMIC: MSH5

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000204410	ENST00000375703	O43196
ENSG00000204410	ENST00000375703	A0A024RCV6
ENSG00000204410	ENST00000375740	O43196
ENSG00000204410	ENST00000375750	O43196
ENSG00000204410	ENST00000375750	A0A024RCM1
ENSG00000204410	ENST00000375755	O43196
ENSG00000204410	ENST00000375755	A0A024RCM1
ENSG00000204410	ENST00000423982	H7C2J4
ENSG00000204410	ENST00000425703	Q5SSR2
ENSG00000204410	ENST00000429846	A2ABF1
ENSG00000204410	ENST00000450148	A2ABE9
ENSG00000204410	ENST00000463144	H7C5D6
ENSG00000204410	ENST00000484309	H0YDS7
ENSG00000204410	ENST00000497269	H7C572
ENSG00000204410	ENST00000652715	A0A494C0L0

Expression (GTEx)

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

Pathway	Source	External ID
Cell Cycle	REACTOME	R-HSA-1640170
Meiosis	REACTOME	R-HSA-1500620
Meiotic recombination	REACTOME	R-HSA-912446

PharmGKB

Entity ID	Name	Type	Evidence	Association	PD	PMIDs
PA443622	Carcinoma, Non-Small-Cell Lung	Disease	ClinicalAnnotation	associated	PD	31616045
PA445846	Thrombocytopenia	Disease	ClinicalAnnotation	associated	PD	31616045
PA448803	carboplatin	Chemical	ClinicalAnnotation	associated	PD	31616045
PA449748	gemcitabine	Chemical	ClinicalAnnotation	associated	PD	31616045

References

Pubmed ID	Year	Title	Citations
34980881	2022	Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing.	4
35742973	2022	A Homozygous Loss-of-Function Mutation in MSH5 Abolishes MutSγ Axial Loading and Causes Meiotic Arrest in NOA-Affected Individuals.	2
34980881	2022	Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing.	4
35742973	2022	A Homozygous Loss-of-Function Mutation in MSH5 Abolishes MutSγ Axial Loading and Causes Meiotic Arrest in NOA-Affected Individuals.	2
34755185	2021	Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes.	14
34755185	2021	Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes.	14
32112110	2020	Long noncoding RNA HCP5 participates in premature ovarian insufficiency by transcriptionally regulating MSH5 and DNA damage repair via YB1.	52
32306546	2020	Association of hMSH5 C85T polymorphism with radiation sensitivity of testicular cell lines GC-1, GC-2, TM3, and TM4.	2
32112110	2020	Long noncoding RNA HCP5 participates in premature ovarian insufficiency by transcriptionally regulating MSH5 and DNA damage repair via YB1.	52
32306546	2020	Association of hMSH5 C85T polymorphism with radiation sensitivity of testicular cell lines GC-1, GC-2, TM3, and TM4.	2
28093084	2017	Association between DNA mismatch repair gene polymorphisms and platinum-based chemotherapy toxicity in non-small cell lung cancer patients.	9
28175301	2017	Mutations in MSH5 in primary ovarian insufficiency.	39
28093084	2017	Association between DNA mismatch repair gene polymorphisms and platinum-based chemotherapy toxicity in non-small cell lung cancer patients.	9
28175301	2017	Mutations in MSH5 in primary ovarian insufficiency.	39
26055704	2015	hMSH5 Facilitates the Repair of Camptothecin-induced Double-strand Breaks through an Interaction with FANCJ.	10

Citation

Dessen P

MSH5 (mutS homolog 5)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/343/msh5-(muts-homolog-5)