Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4437
Gene name Gene Name - the full gene name approved by the HGNC.
MutS homolog 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MSH3
Synonyms (NCBI Gene) Gene synonyms aliases
DUP, FAP4, MRP1
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q14.1
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene forms a heterodimer with MSH2 to form MutS beta, part of the post-replicative DNA mismatch repair system. MutS beta initiates mismatch repair by binding to a mismatch and then forming a complex with MutL alpha heterodimer.
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs41545019 T>G Conflicting-interpretations-of-pathogenicity, uncertain-significance Coding sequence variant, missense variant
rs61754780 G>T Likely-pathogenic Splice acceptor variant
rs200639359 G>A Likely-pathogenic Splice acceptor variant
rs201033017 C>T Pathogenic Coding sequence variant, stop gained
rs367544716 G>A Likely-pathogenic Splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004747 hsa-miR-326 Luciferase reporter assay, Microarray, qRT-PCR, Western blot 19883630
MIRT042726 hsa-miR-345-5p CLASH 23622248
MIRT040556 hsa-miR-92b-3p CLASH 23622248
MIRT719506 hsa-miR-590-3p HITS-CLIP 19536157
MIRT719505 hsa-miR-6872-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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:0003697 Function Single-stranded DNA binding IDA 11809883
GO:0005515 Function Protein binding IPI 8942985, 9774676, 11005803, 14657349, 16025128, 19377479, 22179786, 25416956, 29892012, 31515488, 32296183, 33961781, 34591612
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600887 7326 ENSG00000113318
Protein
UniProt ID P20585
Protein name DNA mismatch repair protein Msh3 (hMSH3) (Divergent upstream protein) (DUP) (Mismatch repair protein 1) (MRP1)
Protein function Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MSH2 to form MutS beta which binds to DNA mismatches thereby initiating DNA repair. When bound, the MutS beta heterodimer bends the DNA helix and shields ap
PDB 3THW , 3THX , 3THY , 3THZ , 8OLX , 8OM5 , 8OM9 , 8OMA , 8OMO , 8OMQ , 8R7C , 8R7E , 8R7V , 8RZ7 , 8RZ8 , 8RZ9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01624 MutS_I 230 343 MutS domain I Domain
PF05188 MutS_II 366 523 MutS domain II Domain
PF05192 MutS_III 540 838 MutS domain III Domain
PF00488 MutS_V 892 1094 MutS domain V Domain
Sequence
MSRRKPASGGLAASSSAPARQAVLSRFFQSTGSLKSTSSSTGAADQVDPGAAAAAAAAAA
AAPPAPPAPAFPPQLPPHIATEIDRRKKRPLENDGPVKKKVKKVQQKEGGSDLGMSGNSE
PKKCLRTRNVSKSLEKLKEFCCDSALPQSRVQTESLQERFAVLPKCTDFDDISLLHAKNA
VSSEDSKRQINQKDTTLFDLSQFGSSNTSHENLQKTASKSANKRSKSIYTPLELQYIEMK
QQHKDAVLCVECGYKYRFFGEDAEIAARELNIYCHLDHNFMTASIPTHRLFVHVRRLVAK
GYKVGVVKQTETAALKAIGDNRSSLFSRKLTALYTKSTLIGED
VNPLIKLDDAVNVDEIM
TDTSTSYLLCISENKENVRDKKKGNIFIGIVGVQPATGEVVFDSFQDSASRSELETRMSS
LQPVELLLPSALSEQTEALIHRATSVSVQDDRIRVERMDNIYFEYSHAFQAVTEFYAKDT
VDIKGSQIISGIVNLEKPVICSLAAIIKYLKEFNLEKMLSKPE
NFKQLSSKMEFMTINGT
TLRNLEILQNQTDMKTKGSLLWVLDHTKTSFGRRKLKKWVTQPLLKLREINARLDAVSEV
LHSESSVFGQIENHLRKLPDIERGLCSIYHKKCSTQEFFLIVKTLYHLKSEFQAIIPAVN
SHIQSDLLRTVILEIPELLSPVEHYLKILNEQAAKVGDKTELFKDLSDFPLIKKRKDEIQ
GVIDEIRMHLQEIRKILKNPSAQYVTVSGQEFMIEIKNSAVSCIPTDWVKVGSTKAVSRF
HSPFIVENYRHLNQLREQLVLDCSAEWLDFLEKFSEHYHSLCKAVHHLATVDCIFSLA
KV
AKQGDYCRPTVQEERKIVIKNGRHPVIDVLLGEQDQYVPNNTDLSEDSERVMIITGPNMG
GKSSYIKQVALITIMAQIGSYVPAEEATIGIVDGIFTRMGAADNIYKGQSTFMEELTDTA
EIIRKATSQSLVILDELGRGTSTHDGIAIAYATLEYFIRDVKSLTLFVTHYPPVCELEKN
YSHQVGNYHMGFLVSEDESKLDPGAAEQVPDFVTFLYQITRGIAARSYGLNVAKLADVPG
EILKKAAHKSKELE
GLINTKRKRLKYFAKLWTMHNAQDLQKWTEEFNMEETQTSLLH
Sequence length 1137
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Platinum drug resistance
Mismatch repair
Pathways in cancer
Colorectal cancer
  Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta)
Defective Mismatch Repair Associated With MSH3
Defective Mismatch Repair Associated With MSH2
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Adenomatous Polyposis familial adenomatous polyposis 4 rs1580546793, rs756190979, rs766672143, rs1580035033, rs374133543, rs371356175, rs776738086, rs1580066605, rs1580553669, rs758191157, rs886037878, rs550626088, rs1580589463, rs771721952, rs952650934
View all (46 more)
N/A
Endometrial carcinoma endometrial carcinoma rs376667075, rs374133543, rs1580553624, rs758191157, rs1744149615, rs1488467945, rs1580546793, rs1561486630, rs371356175, rs1580553669, rs1580053768, rs771721952, rs770330684, rs1580091499, rs1580597397
View all (33 more)
N/A
neoplasm Neoplasm rs587776701 N/A
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
Gastrointestinal stromal tumor gastrointestinal stromal tumor N/A N/A ClinVar
Glioblastoma Glioblastoma N/A N/A GWAS
Huntington Disease Huntington's disease progression N/A N/A GWAS
Lynch Syndrome Lynch syndrome N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 9764589
Adenoma Associate 26510091, 34843512
Adenomatous Polyposis Coli Associate 34250384, 34843512, 35675019
Arthritis Rheumatoid Associate 15547100
Astrocytoma Associate 27476653
Attenuated familial adenomatous polyposis Associate 31285513, 34250384, 35675019
Brain Neoplasms Associate 37423059
Breast Neoplasms Associate 10098729, 15517899, 18701435, 19781088, 21700777, 25927356, 34250384, 39844241
Carcinogenesis Associate 10934138, 34250384, 34843512
Carcinoma Adenoid Cystic Associate 35218645