MSH5 (mutS homolog 5)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4439
Gene name Gene Name - the full gene name approved by the HGNC.
MutS homolog 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MSH5
Synonyms (NCBI Gene) Gene synonyms aliases
G7, MUTSH5, NG23, POF13, SPGF74
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.33
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(50)
miRTarBase ID miRNA Experiments Reference
MIRT656157 hsa-miR-93-3p HITS-CLIP 23824327
MIRT656156 hsa-miR-3692-5p HITS-CLIP 23824327
MIRT656155 hsa-miR-6776-5p HITS-CLIP 23824327
MIRT656154 hsa-miR-5589-5p HITS-CLIP 23824327
MIRT656153 hsa-miR-3652 HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(14)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003677 Function DNA binding IEA
GO:0003690 Function Double-stranded DNA binding IBA
GO:0005515 Function Protein binding IPI 16397227, 19442657, 22401567, 32814053
GO:0005524 Function ATP binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
603382 7328 ENSG00000204410
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID O43196
Protein name MutS protein homolog 5 (hMSH5)
Protein function Involved in DNA mismatch repair and meiotic recombination processes. Facilitates crossovers between homologs during meiosis (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05192 MutS_III 225 → 536 MutS domain III Domain
PF05190 MutS_IV 398 → 496 MutS family domain IV Domain
PF00488 MutS_V 588 → 779 MutS domain V Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed, with high levels in testis and ovary, including granulosa cells (PubMed:28175301, PubMed:9740671). Also expressed in fetal ovary and adrenal gland (PubMed:28175301). {ECO:0000269|PubMed:28175301, ECO:0000269|PubMed:97
Sequence 
MASLGANPRRTPQGPRPGAASSGFPSPAPVPGPREAEEEEVEEEEELAEIHLCVLWNSGY
LGIAYYDTSDSTIHFMPDAPDHESLKLLQRVLDEINPQSVVTSAKQDENMTRFLGKLASQ
EHREPKRPEIIFLPSVDFGLEISKQRLLSGNYSFIPDAMTATEKILFLSSIIPFDCLLTV
RALGGLLKFLGRRRIGVELEDYNVSVPILGFKKFMLTHLVNIDQDTYSVLQIFKSESHPS
VYKVASGLKEGLSLFGILNRCHCKWGEKLLRLWFTRPTHDLGELSSRLDVIQFFLLPQNL
DMAQMLHRLLGHIKNVPLILKRMKLSHTKVSDWQVLYKTVYSALGLRDACRSLPQSIQLF
RDIAQEFSDDLHHIASLIGKVVDFEGSLAENRFTVLPNIDPEIDEKKRRLMGLPSFLTEV
ARKELENLDSRIPSCSVIYIPLIGFLLSIPRLPSMVEASDFEINGLDFMFLSEEKLHYRS
ARTKELDALLGDLHCEIRDQETLLMYQLQCQVLARAAVLTRVLDLASRLDVLLALASAAR
DYGYSRPRYSPQVLGVRIQNGRHPLMELCARTFVPNSTECGGDKGRVKVITGPNSSGKSI
YLKQVGLITFMALVGSFVPAEEAEIGAVDAIFTRIHSCESISLGLSTFMIDLNQVAKAVN
NATAQSLVLIDEFGKGTNTVDGLALLAAVLRHWLARGPTCPHIFVATNFLSLVQLQLLPQ
GPLVQYLTMETCEDGNDLVFFYQVCEGVAKASHASHTAAQAGLPDKLVARGKEVSDLIRS
GKPIKPVKDLLKKNQMENCQTLVDKFMKLDLEDPNLDLNVFMSQEVLPAATSIL
Sequence length 834
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Premature Ovarian Failure premature ovarian failure 13 rs1060505055 N/A
Show/Hide Unknown Diseases (6)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Common Variable Immunodeficiency Common variable immunodeficiency N/A N/A GWAS
Mastocytosis Mastocytosis N/A N/A GWAS
Neuroticism Neuroticism N/A N/A GWAS
Spermatogenic Failure spermatogenic failure 74 N/A N/A GenCC
Show/Hide Text Mining Associations (30)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 22382497, 34872584
Azoospermia Associate 22594646, 26199320, 35172124, 35742973
Azoospermia Nonobstructive Associate 36259570
Carcinoma Non Small Cell Lung Associate 28093084
Carcinoma Squamous Cell Associate 22382497
Chemotherapy Related Cognitive Impairment Associate 28093084
Diabetes Mellitus Type 1 Associate 19143814
Diabetes Mellitus Type 2 Associate 27515906
Disease Associate 26406233
Drug Related Side Effects and Adverse Reactions Associate 28093084