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MSH5 Gene

protein-coding   GIFtS: 63
GCID: GC06P031707

MutS Homolog 5

(Previous names: mutS (E. coli) homolog 5, mutS homolog 5 (E. coli))
  See MSH5-related diseases
at
MalaCards
 

Aliases
for MSH5 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
MutS Homolog 51 2     MUTSH52
MutS (E. Coli) Homolog 51     NG232
MutS Homolog 5 (E. Coli)1     MutS Protein Homolog 52
G72     hMSH53

External Ids:    HGNC: 73281   Entrez Gene: 44392   Ensembl: ENSG000002044107   OMIM: 6033825   UniProtKB: O431963   
ORGUL members:         

Export aliases for MSH5 gene to outside databases

Previous GC identifers: GC06P031771 GC06P031478 GC06P031812 GC06P031815


Summaries
for MSH5 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MSH5 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 during meiosis. This protein plays a role in promoting ionizing
radiation-induced apoptosis. This protein forms hetero-oligomers with another member of this family, mutS homolog
4. Polymorphisms in this gene have been linked to various human diseases, including IgA deficiency, common
variable immunodeficiency, and premature ovarian failure. Alternative splicing results multiple transcript
variants. Read-through transcription also exists between this gene and the downstream chromosome 6 open reading
frame 26 (C6orf26) gene. (provided by RefSeq, Feb 2011)

GeneCards Summary for MSH5 Gene:
MSH5 (mutS homolog 5) is a protein-coding gene. Diseases associated with MSH5 include common variable immunodeficiency, and premature ovarian failure. GO annotations related to this gene include mismatched DNA binding and DNA-dependent ATPase activity. An important paralog of this gene is MSH5-SAPCD1.

UniProtKB/Swiss-Prot: MSH5_HUMAN, O43196
Function: Involved in meiotic recombination. Facilitate crossovers between homologs during meiosis (By similarity)

Gene Wiki entry for MSH5 Gene


Genomic Views
for MSH5 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NC_018917.2  NT_007592.16  NT_113891.3  NT_167244.2  NT_167245.2  NT_167246.2  NT_167247.2  
NT_167248.2  NT_167249.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MSH5 gene promoter:
         Sp1   p53   GATA-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): MSH5 promoter sequence
   Search Chromatin IP Primers for MSH5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MSH5


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.3   Ensembl cytogenetic band:  6p21.33   HGNC cytogenetic band: 6p21.3

MSH5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MSH5 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P031707:  view genomic region     (about GC identifiers)

Start:
 31,707,725 bp from pter      End:
 31,732,622 bp from pter
Size:
 24,898 bases      Orientation:
 plus strand

Selected alternative locations (see all 7):
Chr6+,NT_113891.2 3,217,334-3,240,041      Chr6+,NT_167246 3,050,615-3,058,094      Chr6+,NT_167245 2,993,299-3,016,037     
Chr6+,NT_167248 3,001,363-3,023,045      Chr6+,NT_167247 3,087,409-3,110,152      Chr6+,NT_167244 3,040,680-3,045,206     
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for MSH5

Proteins
for MSH5 gene

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MSH5_HUMAN, O43196 (See protein sequence)
Recommended Name: MutS protein homolog 5  
Size: 834 amino acids; 92875 Da
Subunit: Heterooligomer of MSH4 and MSH5. Interacts with HJURP
Secondary accessions: B0V033 B0V034 O60586 Q5BLU9 Q5SSR1 Q8IW44 Q9BQC7
Alternative splicing: 4 isoforms:  O43196-1   O43196-2   O43196-3   O43196-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MSH5: NX_O43196

Explore proteomics data for MSH5 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys105, Lys584
  • Modification sites at PhosphoSitePlus

    • See MSH5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_002432.1  NP_079535.4  NP_751897.1  NP_751898.1  

    ENSEMBL proteins: 
     ENSP00000364908   ENSP00000364903   ENSP00000402842   ENSP00000364855   ENSP00000364892  
     ENSP00000406352   ENSP00000419648   ENSP00000394971   ENSP00000419131   ENSP00000379194  
     ENSP00000420232   ENSP00000406849   ENSP00000364894   ENSP00000431693   ENSP00000416784  
    Reactome Protein details: O43196

    MSH5 Human Recombinant Protein Products:

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    Novus Biologicals MSH5 Protein
    Novus Biologicals MSH5 Lysates
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MSH5

         		 Search eBioscience for Proteins for MSH5 

         		antibodies-online proteins for MSH5 (2 products) 

         		antibodies-online peptides for MSH5

    MSH5 Antibody Products:

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    Abcam antibodies for MSH5
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    antibodies-online antibodies for MSH5 (24 products) 

    MSH5 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for MSH5
    Cloud-Clone Corp. CLIAs for MSH5
    Search eBioscience for ELISAs for MSH5 
    antibodies-online kits for MSH5 (6 products) 

    Domains /
    Families
    for MSH5 gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    TryGeneCards Plus    		 4 InterPro protein domains:
     IPR007861 DNA_mismatch_repair_MutS_clamp
     IPR007696 DNA_mismatch_repair_MutS_core
     IPR027417 P-loop_NTPase
     IPR000432 DNA_mismatch_repair_MutS_C

    Graphical View of Domain Structure for InterPro Entry O43196

    ProtoNet protein and cluster: O43196

    1 Blocks protein domain: IPB007696 MutS III

    UniProtKB/Swiss-Prot: MSH5_HUMAN, O43196
    Similarity: Belongs to the DNA mismatch repair MutS family


    Find genes that share domains with MSH5           About GenesLikeMe


    Function
    for MSH5 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MSH5_HUMAN, O43196
    Function: Involved in meiotic recombination. Facilitate crossovers between homologs during meiosis (By similarity)

         Genatlas biochemistry entry for MSH5:
    yeast meiosis specific protein,mutator gene homolog (bacteria Mut S homolog 5) interacting with
    MSH4,92.9kDa,ubiquitous,mostly expressed in testis,thymus, and immune system,putatively required for chromosome
    pairing in meiosis and DNA replicative mismatch repair

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003684NOT damaged DNA binding IRD--
    GO:0005515protein binding IPI16397227
    GO:0005524ATP binding IEA--
    GO:0008094DNA-dependent ATPase activity IBA--
         
    Find genes that share ontologies with MSH5           About GenesLikeMe


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Msh5):
     cellular  endocrine/exocrine gland  reproductive system 

    Find genes that share phenotypes with MSH5           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for MSH5: Msh5tm1Rak Msh5tm1Htr

       genOway: Develop your customized and physiologically relevant rodent model for MSH5

    miRNA
    Products:            		Block miRNA regulation of human, mouse, rat MSH5 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate MSH5
    SwitchGear 3'UTR luciferase reporter plasmid: MSH5 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MSH5

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for MSH5

    Clone
    Products:             		 OriGene clones in human, mouse for MSH5 (see all 24)
    OriGene ORF clones in mouse, rat for MSH5
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): MSH5 (NM_002441)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MSH5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MSH5

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for MSH5 
    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MSH5


    Localization
    for MSH5 gene

    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    mitochondrion2
    cytosol1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000795synaptonemal complex IBA--
    GO:0032300NOT mismatch repair complex IRD--

    Find genes that share ontologies with MSH5           About GenesLikeMe


    Pathways & Interactions
    for MSH5 gene

    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MSH5 About    
    See pathways by source

    		      Powered
    by    		     
    SuperPathContained pathways About
    1Meiosis
    		Meiosis0.74
    		Meiotic Recombination0.74
    2Ovarian Infertility Genes
    		Ovarian Infertility Genes


    Find genes that share SuperPaths with MSH5           About GenesLikeMe

    Pathways by source                                   See SuperPaths
    Show all pathways


    1 BioSystems Pathway for MSH5
        Ovarian Infertility Genes

    1 Reactome Pathway for MSH5
        Meiotic recombination


        Pathway & Disease-focused RT2 Profiler PCR Array including MSH5: 
              DNA Repair in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MSH5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MSH5 (O431961, 2, 3 ENSP000003648944) via UniProtKB, MINT, STRING, and/or I2D (see all 43)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABL1P005191, 2, 3, ENSP000003614234EBI-6092730,EBI-375543 MINT-7309811 MINT-7158451 MINT-7158702 MINT-7158714 MINT-7158402 MINT-7158255 MINT-7309724 MINT-7158347 MINT-7309863 MINT-7309845 I2D: score=1 STRING: ENSP00000361423
    MSH4O154571, 2, 3, ENSP000002631874EBI-6092730,EBI-6092777 MINT-7158693 MINT-7158702 MINT-7158714 MINT-7158651 I2D: score=9 STRING: ENSP00000263187
    MRE11AP499593, ENSP000003258634I2D: score=6 STRING: ENSP00000325863
    TRIP13Q156453, ENSP000001663454I2D: score=1 STRING: ENSP00000166345
    NDC80O147773I2D: score=6 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000710NOT meiotic mismatch repair IRD--
    GO:0006200ATP catabolic process IBA--
    GO:0006298mismatch repair TAS9740671
    GO:0007126meiotic nuclear division TAS9740671
    GO:0007131reciprocal meiotic recombination IBA--

    Find genes that share ontologies with MSH5           About GenesLikeMe



    Drugs & Compounds
    for MSH5 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MSH5



    Transcripts
    for MSH5 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MSH5 gene (4 alternative transcripts): 
    NM_002441.4  NM_025259.5  NM_172165.3  NM_172166.3  

    Unigene Cluster for MSH5:

    MutS homolog 5 (E. coli)
    Hs.647011  [show with all ESTs]
    Unigene Representative Sequence: NR_037846
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):
    ENST00000375755 ENST00000375750 ENST00000425703 ENST00000463094 ENST00000482280
    ENST00000375703 ENST00000375740 ENST00000423982 ENST00000463144 ENST00000450148
    ENST00000497269 ENST00000468602 ENST00000468136 ENST00000395853(uc003nwy.1)
    ENST00000467319 ENST00000494646 ENST00000484309 ENST00000429846
    miRNA
    Products:             		 Block miRNA regulation of human, mouse, rat MSH5 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate MSH5
    SwitchGear 3'UTR luciferase reporter plasmid: MSH5 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MSH5
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): MSH5 (NM_002441)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MSH5
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    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for MSH5
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MSH5
      QuantiTect SYBR Green Assays in human, mouse, rat MSH5
      QuantiFast Probe-based Assays in human, mouse, rat MSH5

    Additional mRNA sequence: 

    AF034759.1 AF048986.1 AF070071.1 AK303129.1 AK304221.1 BC001358.2 BC002498.2 BC041031.1 
    BT007200.1 NR_037846.1 

    17 DOTS entries:

    DT.92429774  DT.100789192  DT.121408300  DT.95274369  DT.75102357  DT.100789187  DT.100026601  DT.121408285 
    DT.121408310  DT.302179  DT.100687934  DT.100789190  DT.203689  DT.86857350  DT.95154171  DT.121408227 
    DT.97842306 

    Selected AceView cDNA sequences (see all 185):

    AA971011 AF048986 AA588121 CD671687 BI062976 AA503388 CA394021 NM_002441 
    AA135366 BU950346 BI063399 CA427196 AF048987 BU783156 AI028151 AI979234 
    NM_025259 BF908043 AA632264 BU950645 AA470697 AI261444 BC002498 BE276767 

    GeneLoc Exon Structure


    Expression
    for MSH5 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MSH5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCTCTTTGT
    MSH5 Expression
    About this image


    MSH5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Ovary (Reproductive System)
             Primary Oocyte Primordial Follicle
     
     Gonad
             Primary Oocyte Primordial Follicle
    MSH5 Protein expression data from MOPED1, PaxDb2 and MaxQB3:     About this image

    MSH5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.647011

    UniProtKB/Swiss-Prot: MSH5_HUMAN, O43196
    Tissue specificity: Ubiquitous, but highly expressed in testis, and thymus

        Pathway & Disease-focused RT2 Profiler PCR Array including MSH5: 
              DNA Repair in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat MSH5
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MSH5

    Orthologs
    for MSH5 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MSH5 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Msh51 , 5 mutS homolog 5 (E. coli)1, 5 87.09(n)1
    89.59(a)1    		   17 (18.57 cM)5
    176871  NM_013600.21  NP_038628.21 
     350286055 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    		 Uncharacterized protein
    		 66(a)
    		 1 → many
    		 1(204006023-204008419)
    tropical clawed frog
    (Xenopus tropicalis)    		 Amphibia msh51 mutS homolog 5 (E. coli) 61.42(n)
    59.08(a)    		   100489595  XM_002939465.2  XP_002939511.2 
    zebrafish
    (Danio rerio)    		 Actinopterygii msh51 mutS homolog 5 (E. coli) 59.29(n)
    55.37(a)    		   570030  XM_005157792.1  XP_005157849.1 
    mosquito
    (Anopheles gambiae)    		 Insecta AgaP_AGAP0026421 AgaP_AGAP002642 46.38(n)
    33.74(a)    		   1273320  XM_312286.5  XP_312286.5 
    worm
    (Caenorhabditis elegans)    		 Secernentea msh-51 , 3 Yeast DNA mismatch repair protein MSH5
    like3
    msh-51    		 30(a)3
    42.09(n)1
    31.7(a)1    		   IV(13155403-13164118)3
    1782681  NM_070130.61  NP_502531.11 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes MSH5(YDL154W)4
    MSH51    		 Protein of the MutS family, forms a dimer with Msh4p more4
    MSH51    		 42.96(n)1
    33.22(a)1    		   4(178334-181039)4
    8514011, 4  NP_010127.11, 4 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons MSH51 MSH5 44.12(n)
    33.56(a)    		   821593  NM_112939.3  NP_188683.3 
    rice
    (Oryza sativa)    		 Liliopsida Os05g04983001 Os05g0498300 45.43(n)
    34.56(a)    		   4339215  NM_001062483.1  NP_001055948.1 


    ENSEMBL Gene Tree for MSH5 (if available)
    TreeFam Gene Tree for MSH5 (if available)

    Paralogs
    for MSH5 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MSH5 gene
    MSH5-SAPCD12  
    3 SIMAP similar genes for MSH5 using alignment to 10 protein entries:     MSH5_HUMAN (see all proteins):
    G7    DKFZp434C1615    MSH5-SAPCD1

    Find genes that share paralogs with MSH5           About GenesLikeMe



    Genomic Variants
    for MSH5 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for MSH5 (see all 560)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs592917191,2
    		C--31495764(+) AAAAA-/A/AA  
                GTTTT     		4 -- int11NA 2
    rs92794041,2
    		C--31499751(+) ttttt-/T/TT  
                gatac     		4 -- int11NA 2
    rs1406397371,2
    		C--31622719(+) TACAGC/TTCCAG 4 -- us2k10--------
    rs31010181,2
    		C,F,H--31622817(-) ATCACG/ATCACT 4 -- us2k1 tfbs319Minor allele frequency- A:0.04NS EA NA WA 1972
    rs1162821441,2
    		F--31622987(+) TGCCTC/GTGTGT 4 -- us2k11Minor allele frequency- G:0.01WA 118
    rs1511139911,2
    		C--31623393(+) TGCATG/TTCTCC 4 -- us2k10--------
    rs283813391,2
    		C,F--31623427(+) TCTCTG/CGGCTT 4 -- us2k16Minor allele frequency- C:0.01NS NA 302
    rs283813401,2
    		C--31623556(+) AGTTTC/TTATAG 4 -- us2k15Minor allele frequency- T:0.00NS 182
    rs1879073221,2
    		--31623593(+) GGTAAC/TCATTA 4 -- us2k10--------
    rs2005627781,2
    		--31623799(+) TATAT-/ATATAT 4 -- us2k10--------

    HapMap Linkage Disequilibrium report for MSH5 (31707725 - 31732622 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for MSH5:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv6583n71CNV Loss21882294
    dgv6582n71CNV Loss21882294
    nsv819978CNV Loss19587683
    nsv884418CNV Gain21882294

    Human Gene Mutation Database (HGMD): MSH5
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MSH5
    DNA2.0 Custom Variant and Variant Library Synthesis for MSH5

    Disorders / Diseases
    for MSH5 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus    		 OMIM gene information: 603382    OMIM disorders: --

    2 diseases for MSH5:    
    About MalaCards
    common variable immunodeficiency    premature ovarian failure

    1 inferred disease relationship from the University of Copenhagen DISEASES database for MSH5:
    Common variable immunodeficiency

    Find genes that share disorders with MSH5           About GenesLikeMe

    1 Novoseek inferred disease relationship for MSH5 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    colorectal cancer 24.5 1 9740671 (1)

    Genetic Association Database (GAD): MSH5
    Human Genome Epidemiology (HuGE) Navigator: MSH5 (15 documents)

    Export disorders for MSH5 gene to outside databases

    Publications
    for MSH5 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for MSH5 gene, integrated from 10 sources (see all 48):
    (articles sorted by number of sources associating them with MSH5)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning, structural characterization, and chromosomal localization of the human orthologue of Saccharomyces cerevisiae MSH5 gene. (PubMed id 9740671)1, 2, 3, 9 Her C. and Doggett N.A. (Genomics 1998)
    2. Cloning and characterization of the human and Caenorhabditis elegans homologs of the Saccharomyces cerevisiae MSH5 gene. (PubMed id 9787078)1, 2, 3, 9 Winand N.J.... Kolodner R.D. (Genomics 1998)
    3. Genetic investigation of four meiotic genes in women with premature ovarian failure. (PubMed id 18166824)1, 4, 9 Mandon-PAcpin B....Fellous M. (Eur. J. Endocrinol. 2008)
    4. The role of MSH5 C85T and MLH3 C2531T polymorphisms in the risk of male infertility with azoospermia or severe oligozoospermia. (PubMed id 19808033)1, 4 Xu K....Xiang Y. ( international journal of clinical chemistry 2010)
    5. MSH5 is not a genetic predisposing factor for immunoglobulin A deficiency but marks the HLA-DRB1*0102 subgroup carrying susceptibility. (PubMed id 20542071)1, 4 Pozo N.D....NA_A+ez C. (Hum. Immunol. 2010)
    6. Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection. (PubMed id 20587610)1, 4 Ucisik-Akkaya E....Dorak M.T. (Mol. Hum. Reprod. 2010)
    7. Genetically determined Amerindian ancestry correlates with increased frequency of risk alleles for systemic lupus erythematosus. (PubMed id 20848568)1, 4 Sanchez E....AlarcA^n-Riquelme M.E. (Arthritis Rheum. 2010)
    8. Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent. (PubMed id 20378615)1, 4 Aston K.I....Carrell D.T. (Hum. Reprod. 2010)
    9. Several loci in the HLA class III region are associated with T1D risk after adjusting for DRB1-DQB1. (PubMed id 19143814)1, 4 Valdes A.M. and Thomson G. (amp 2009)
    10. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PubMed id 19851445)1, 4 Barcellos L.F....Criswell L.A. (PLoS Genet. 2009)

    External Searches for MSH5 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

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     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    OMIM
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    Genome Databases showing MSH5 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 4439 HGNC: 7328 AceView: MSH5 Ensembl:ENSG00000204410 euGenes: HUgn4439
    ECgene: MSH5 H-InvDB: MSH5

    Other Databases showing MSH5 gene

    (According to HUGE)
    About This Section

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    Specialized Databases showing MSH5 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for MSH5 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MSH5 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/msh5/

    Intellectual Property
    for MSH5 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus    		Patent Information for MSH5 gene:
    Search GeneIP for patents involving MSH5

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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