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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MSH5 Gene

protein-coding   GIFtS: 61
GCID: GC06P031707

mutS homolog 5 (E. coli)

(Previous name: mutS (E. coli) homolog 5 )
 Explore 15 diseases affiliated with
MSH5 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for MSH5    

Aliases
for MSH5 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
MutS Homolog 5 (E. Coli)1 2     NG232
MutS (E. Coli) Homolog 51     MutS Protein Homolog 52
G72     HMSH51
MUTSH52     

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

Export aliases for MSH5 gene to outside databases

Previous GC identifers: GC06P031771 GC06P031478 GC06P031812 GC06P031815


Summaries
for MSH5 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for MSH5:
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)

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

Gene Wiki entry for MSH5


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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_007592.15  NT_113891.2  NT_167244.1  NT_167245.1  NT_167246.1  NT_167247.1  
NT_167248.1  NT_167249.1  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for MSH5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

6/7 alternative locations (see all 7):
Chr6+,ALT_REF_LOCI_5 31,698,832-31,721,575      Chr6+,ALT_REF_LOCI_6 31,698,009-31,755,234      Chr6+,ALT_REF_LOCI_2 31,695,173-31,757,025     
Chr6+,ALT_REF_LOCI_3 31,689,902-31,723,678      Chr6+,ALT_REF_LOCI_4 31,670,274-31,677,756      Chr6+,ALT_REF_LOCI_1 31,735,723-31,750,109     

Proteins
for MSH5 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O43196

    • MSH5 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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
    Human Recombinant Protein Products: 
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    OriGene Purified Proteins (see all 2): MSH5
    OriGene Protein Over-expression Lysate (see all 3): MSH5
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    Novus Biologicals MSH5 Protein
    Novus Biologicals MSH5 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for MSH5

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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


    MSH5 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for MSH5

    Protein Domains /
    Families
    for MSH5 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    MSH5 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR007861 DNA_mismatch_repair_MutS_clamp
     IPR007696 DNA_mismatch_repair_MutS_core
     IPR000432 DNA_mismatch_repair_MutS_C

    Graphical View of Domain Structure for InterPro Entry O43196

    ProtoNet protein and cluster: O43196

    1 Blocks protein family: IPB007696 MutS III

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


    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmid: MSH5 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MSH5 (see all 7)
    OriGene shRNA RFP: MSH5
    OriGene siRNA: MSH5
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    Gene Editing
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MSH5 (see all 7)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MSH5 

    Cell Line
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    Search LifeMap BioReagents cell lines for MSH5

    In Situ Assay
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         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MSH5

    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003684NOT damaged DNA binding IRD--
    GO:0005524ATP binding IEA--
    GO:0008094DNA-dependent ATPase activity IBA--
    GO:0030983mismatched DNA binding IBA--


    MSH5 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for MSH5: Msh5tm1Rak Msh5tm1Htr
         3 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Msh5):
     cellular  endocrine/exocrine gland  reproductive system 

    MSH5 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for MSH5 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Formation of Meiotic Holliday Junction
    		Formation of Meiotic Holliday Junction1.00
    		Resolution of Meiotic Holliday Junction0.31
    2Meiotic Synapsis
    		Meiosis0.70
    		Meiotic Recombination0.32
    3Ovarian Infertility Genes
    		Ovarian Infertility Genes1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for MSH5 
        Ovarian Infertility Genes

    4        Reactome Pathways for MSH5
        Resolution of Meiotic Holliday Junction
    Formation of Meiotic Holliday Junction
    Meiosis
    Meiotic Recombination



    MSH5 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MSH5

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5/13 Interacting proteins for MSH5 (O431962, 3 ENSP000003648944) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABL1P005192, 3, ENSP000003614234MINT-7309811 MINT-7158451 MINT-7158702 MINT-7158714 MINT-7158402 MINT-7158255 MINT-7309724 MINT-7158347 MINT-7309863 MINT-7309845 I2D: score=1 STRING: ENSP00000361423
    MSH4O154572, 3, ENSP000002631874MINT-7158693 MINT-7158702 MINT-7158714 MINT-7158651 I2D: score=9 STRING: ENSP00000263187
    MRE11AP499593I2D: score=6 
    NDC80O147773I2D: score=6 
    PRMT5O147443I2D: score=6 
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000710NOT meiotic mismatch repair IRD--
    GO:0006298mismatch repair TAS9740671
    GO:0007126meiosis TAS9740671
    GO:0007131reciprocal meiotic recombination IBA--
    GO:0007136meiotic prophase II TAS9916805


    MSH5 for ontologies           About GeneDecksing



    Drugs & Compounds
    for MSH5 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MSH5
    Search CenterWatch for drugs/clinical trials and news about MSH5 

    Transcripts
    for MSH5 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
    18/22 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
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    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MSH5
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate MSH5
    SwitchGear 3'UTR luciferase reporter plasmid: MSH5 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MSH5 (see all 7)
    OriGene shRNA RFP: MSH5
    OriGene siRNA: MSH5
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MSH5
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MSH5 (see all 7)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MSH5 (see all 4)
    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
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MSH5 
    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MSH5
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MSH5
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MSH5

    Additional cDNA 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 

    24/185 AceView cDNA sequences (see all 185):

    AI796035 BC002498 BI062976 AA969618 BI063399 CD242818 BT007200 CB132057 
    AF034759 BU951004 AI261444 AW351949 AA632264 AF048987 AA588121 CD671687 
    AA399986 NM_172165 NM_025259 BC041031 BU950346 BF908043 AA135366 BU783156 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MSH5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCCTCTTTGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    MSH5 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    OvaryPrimordial FolliclePrimary OocyteFemale Gametocytes, Germ Cells
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See MSH5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MSH5

    SOURCE GeneReport for Unigene cluster: Hs.647011

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

        SABiosciences Expression via Pathway-Focused PCR Array including MSH5: 
              DNA Repair in human mouse rat

    Primer
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    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)
    About This Section
    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for MSH5 gene from 9/30 species (see all 30)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves F1N8B7_CHICK6
    		 Uncharacterized protein
    		 67(a)
    		 1 → many
    		 3(59493840-59496215)
    lizard
    (Anolis carolinensis)    		 Reptilia --
    		 --
    		 66(a)
    		 1 → many
    		 1(204006023-204008419)
    zebrafish
    (Danio rerio)    		 Actinopterygii CU695006.16
    		 --
    		 58(a)
    		 1 → many
    		 15(38575684-38577979)
    mosquito
    (Anopheles gambiae)    		 Insecta AgaP_AGAP0026421 AGAP002642-PA 46.19(n)
    33.64(a)    		   1273320  XM_312286.4  XP_312286.4 
    worm
    (Caenorhabditis elegans)    		 Secernentea msh-51 , 3 Yeast DNA mismatch repair protein MSH5 like3
    Protein MSH-51    		 30(a)3
    41.98(n)1
    31.28(a)1    		   IV(13155403-13164118)3
    1782681  NM_070130.51  NP_502531.11 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes MSH5(YDL154W)4
    MSH51    		 Protein of the MutS family, forms a dimer with Msh4p more4
    Msh5p1    		 42.32(n)1
    32.52(a)1    		   4(178334-181039)4
    8514011, 4  NP_010127.11, 4 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons MSH51 DNA mismatch repair protein MSH5 44.08(n)
    33.69(a)    		   821593  NM_112939.3  NP_188683.3 
    rice
    (Oryza sativa)    		 Liliopsida Os05g04983001 hypothetical protein 44.86(n)
    34.19(a)    		   4339215  NM_001062483.1  NP_001055948.1 
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria mutS6
    		 methyl-directed mismatch repair protein
    		 17(a)
    		 possible ortholog
    		 Chromosome(2855115-2857676)


    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)
    About This Section
    Paralogs for MSH5 gene
    MSH5-SAPCD12  
    11 SIMAP similar genes for MSH5 using alignment to 30 protein entries:     MSH5_HUMAN (see all proteins):
    G7    DKFZp434C1615    MSH5-SAPCD1    FLJ16124    PFKFB3    SEC14L3
    COQ5    C12orf76    MSH6    SNRPF    MSH3

    MSH5 for paralogs           About GeneDecksing



    Genomic Variants
    for MSH5 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/444 NCBI SNPs in MSH5 are shown (see all 444)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs283813401,2
    		C--31492829(+) AGTTTC/TTATAG 4 -- us2k15Minor allele frequency- T:0.00NS 182
    rs283598451,2
    		C--31493116(+) ACACA-/CAGACGC 4 -- us2k10--------
    rs283813411,2
    		C,F,H,--31493459(+) CATACC/TCTGTA 4 -- us2k19Minor allele frequency- T:0.01NS NA 676
    rs283813421,2
    		C,F,--31493646(+) AAGCGC/GCTCTG 4 -- us2k16Minor allele frequency- G:0.01NS WA 180
    rs283813431,2
    		C,--31493667(+) TTTGGC/TCTCCC 4 -- us2k1 trp36Minor allele frequency- T:0.03NS WA 290
    rs283813441,2
    		C,F,--31493758(+) CCACTG/ACGCCA 4 -- us2k1 tfbs36Minor allele frequency- A:0.03NS NA 296
    rs172010671,2
    		C,F,--31493928(+) ATCTCT/CAGGCT 4 -- us2k19Minor allele frequency- C:0.05MN NS CSA WA 389
    rs283813451,2
    		C,F,H,--31494061(+) ACCTGT/CAGCGA 4 -- ut51 ese37Minor allele frequency- C:0.01NS 498
    rs172074541,2
    		F--31494196(+) CTCGCC/TCCACA 4 -- ut51 int1 ese31Minor allele frequency- T:0.02MN 96
    rs172074611,2
    		F--31494315(+) CACCTC/TCTGTG 4 -- int11Minor allele frequency- T:0.02MN 96

    HapMap Linkage Disequilibrium report for MSH5 (31707725 - 31732622 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for MSH5
         1 CNV: 59323
    Human Gene Mutation Database (HGMD): MSH5

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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
    MSH5 for disorders           About GeneDecksing

    OMIM gene information: 603382    OMIM disorders: --

    15 diseases for MSH5:    About MalaCards
    premature ovarian failure    common variable immunodeficiency    immunoglobulin alpha deficiency    immunodeficiency
    systemic lupus erythematosus    lupus erythematosus    male infertility    intrahepatic cholangiocarcinoma
    infertility    azoospermia    colorectal cancer    cholangiocarcinoma
    meningioma    lung cancer    pneumonia

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

    1 Novoseek 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)

    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

    PubMed articles for MSH5 gene, integrated from 9 sources (see all 44):
    (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. (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. (1998)
    3. hMSH4-hMSH5 adenosine nucleotide processing and interactions with homologous recombination machinery. (PubMed id 17977839)1, 3 Snowden T....Fishel R. (2008)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    6. Analysis of the gene-dense major histocompatibility complex class III region and its comparison to mouse. (PubMed id 14656967)1, 2 Xie T.... Hood L. (2003)
    7. hMSH5: a human MutS homologue that forms a novel heterodimer with hMSH4 and is expressed during spermatogenesis. (PubMed id 10029069)1, 2 Bocker T.... Fishel R. (1999)
    8. Spermatogenesis-specific association of SMCY and MSH5. (PubMed id 18459961)1, 9 Akimoto C....Kato S. (2008)
    9. Genetic investigation of four meiotic genes in women with premature ovarian failure. (PubMed id 18166824)1, 9 Mandon-Pepin B....Fellous M. (2008)
    10. Human MutS homologue MSH4 physically interacts with von Hippel-Lindau tumor suppressor-binding protein 1. (PubMed id 12591739)1, 9 Her C....Zhou F. (2003)

    External Searches for MSH5 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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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
    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
    		   --

    Specialized Databases showing MSH5 gene

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