MSH5 (mutS homolog 5)

2003-02-01  

Identity

HGNC
LOCATION
6p21.33
LOCUSID
ALIAS
G7,MUTSH5,NG23,POF13
FUSION GENES

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000204410ENST00000375703O43196
ENSG00000204410ENST00000375703A0A024RCV6
ENSG00000204410ENST00000375740O43196
ENSG00000204410ENST00000375750O43196
ENSG00000204410ENST00000375750A0A024RCM1
ENSG00000204410ENST00000375755O43196
ENSG00000204410ENST00000375755A0A024RCM1
ENSG00000204410ENST00000423982H7C2J4
ENSG00000204410ENST00000425703Q5SSR2
ENSG00000204410ENST00000429846A2ABF1
ENSG00000204410ENST00000450148A2ABE9
ENSG00000204410ENST00000463144H7C5D6
ENSG00000204410ENST00000484309H0YDS7
ENSG00000204410ENST00000497269H7C572
ENSG00000204410ENST00000652715A0A494C0L0

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
Cell CycleREACTOMER-HSA-1640170
MeiosisREACTOMER-HSA-1500620
Meiotic recombinationREACTOMER-HSA-912446

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443622Carcinoma, Non-Small-Cell LungDiseaseClinicalAnnotationassociatedPD31616045
PA445846ThrombocytopeniaDiseaseClinicalAnnotationassociatedPD31616045
PA448803carboplatinChemicalClinicalAnnotationassociatedPD31616045
PA449748gemcitabineChemicalClinicalAnnotationassociatedPD31616045

References

Pubmed IDYearTitleCitations
189787872008Common 5p15.33 and 6p21.33 variants influence lung cancer risk.243
198514452009High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.51
174091882007Role for Msh5 in the regulation of Ig class switch recombination.49
203786152010Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent.40
181668242008Genetic investigation of four meiotic genes in women with premature ovarian failure.24
181668242008Genetic investigation of four meiotic genes in women with premature ovarian failure.24
208485682010Genetically determined Amerindian ancestry correlates with increased frequency of risk alleles for systemic lupus erythematosus.23
182703392008Comprehensive analysis of DNA repair gene variants and risk of meningioma.22
179778392008hMSH4-hMSH5 adenosine nucleotide processing and interactions with homologous recombination machinery.20
161229922006Formation of hMSH4-hMSH5 heterocomplex is a prerequisite for subsequent GPS2 recruitment.19

Citation

Dessen P

MSH5 (mutS homolog 5)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/343/msh5