MSH5 (mutS homolog 5)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 4439
Gene name MutS homolog 5
Gene symbol MSH5
Synonyms (NCBI Gene)
G7MUTSH5NG23POF13SPGF74
Chromosome 6
Chromosome location 6p21.33
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
miRNA miRNA information provided by mirtarbase database.
50
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
603382 7328 ENSG00000204410
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (6)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Azoospermia Pathogenic rs1809169096 RCV001797574
Genetic non-acquired premature ovarian failure Likely pathogenic rs144471639 RCV001661756
MSH5-related disorder Likely pathogenic rs375591471 RCV003406004
Non-obstructive azoospermia Likely pathogenic; Pathogenic rs753519199, rs961633772, rs1562249204 RCV001391107
RCV001281663
RCV001281664
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Chronic lymphocytic leukemia/small lymphocytic lymphoma Likely benign rs192714206 RCV005938777
Show/Hide Text Mining Associations (30)
Associations from Text MiningDisease 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