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

MSH5 Gene

protein-coding   GIFtS: 63
GCID: GC06P031707

MutS Homolog 5

(Previous names: mutS (E. coli) homolog 5, mutS homolog 5 (E. coli))
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 8

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:         
NONCODE14:n336313 n408375 n334865 n408367 n336306 see all 10      

Export aliases for MSH5 gene to outside databases

Previous GC identifers: GC06P031771 GC06P031478 GC06P031812 GC06P031815


(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 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, and is affiliated with the lncRNA class. Diseases associated with MSH5 include common variable immunodeficiency, and immunoglobulin alpha deficiency, and among its related super-pathways are Meiosis. 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


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.2  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+,NT_167247 3,087,409-3,110,152      Chr6+,NT_167246 3,050,615-3,058,094      Chr6+,NT_167249 3,038,543-3,061,268     
Chr6+,NT_167248 3,001,363-3,023,045      Chr6+,NT_167245 2,993,299-3,016,037      Chr6+,NT_167244 3,040,680-3,045,206     
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for MSH5

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for MSH5 at MOPED 

Post-translational modifications:

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

  • MSH5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MSH5 Protein Expression
    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 for MSH5: 
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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 

    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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    Cloud-Clone Corp. CLIAs for MSH5


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    MSH5 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003684NOT damaged DNA binding IRD--
    GO:0005515protein binding IPI16397227
    GO:0005524ATP binding IEA--
    GO:0008094DNA-dependent ATPase activity IBA--
    GO:0030983mismatched DNA binding IBA--
         
    MSH5 for ontologies           About GeneDecksing


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

    MSH5 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MSH5 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MSH5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MSH5 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MSH5 

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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MSH5


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MSH5 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Meiotic Synapsis
    Meiosis0.70
    Meiotic Recombination0.62
    2Ovarian Infertility Genes
    Ovarian Infertility Genes

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for MSH5
        Ovarian Infertility Genes

    2        Reactome Pathways for MSH5
        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



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, 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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Inhib. RNA
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    OriGene ORF clones in mouse, rat for MSH5
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      QIAGEN 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 

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

    CD242818 NM_172166 AF048986 AA317440 AI796035 AA632264 CA427196 BE295918 
    BM457407 AI261444 BU162048 BU950346 BF908043 BT007200 AF034759 AI979234 
    AA503388 CB132057 AA588121 BC002498 BC041031 NM_002441 BU951004 AI028151 

    GeneLoc Exon Structure


    (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)      MSH5 embryonic expression: see
    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 
     5/4 selected tissues (see all 4) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             bone marrow cd34+   
     
     Ovary (Reproductive System)
             Primary Oocyte Primordial Follicle
     
     Umbilical Cord (Extraembryonic Tissues)
             stem cells (umbilical cord cd34+)   
     
     Gonad
             Primary Oocyte Primordial Follicle

    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

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    In Situ
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    (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 common ancestor of eukaryotes.

    Orthologs for MSH5 gene from 8/17 species (see all 17)    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 87.21(n)1
    89.71(a)1
      17 (18.57 cM)5
    176871  NM_001146215.11  NP_001139687.11 
     350286055 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    65(a)
    1 → many
    1(204006023-204008419)
    zebrafish
    (Danio rerio)
    Actinopterygii CU695006.26
    CU695006.16
    Uncharacterized protein
    68(a)
    58(a)
    many ↔ many
    many ↔ many
    15(38580110-38581865)
    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 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MSH5 gene
    MSH5-SAPCD12  
    5 SIMAP similar genes for MSH5 using alignment to 26 protein entries:     MSH5_HUMAN (see all proteins):
    G7    DKFZp434C1615    MSH5-SAPCD1    MSH6    MSH3

    MSH5 for paralogs           About GeneDecksing



    (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) 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

    10/560 SNPs in MSH5 are shown (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
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing MSH5
    DNA2.0 Custom Variant and Variant Library Synthesis for MSH5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603382    OMIM disorders: --

    14 diseases for MSH5:    About MalaCards
    common variable immunodeficiency    immunoglobulin alpha deficiency    premature ovarian failure    male infertility
    azoospermia    infertility    intrahepatic cholangiocarcinoma    cholangiocarcinoma
    systemic lupus erythematosus    meningioma    colorectal cancer    lupus erythematosus
    type 1 diabetes    lung cancer

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

    MSH5 for disorders           About GeneDecksing

    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

    (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 47):
    (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. Genetic investigation of four meiotic genes in women with premature ovarian failure. (PubMed id 18166824)1, 4, 9 Mandon-Pepin B....Fellous M. (2008)
    4. The role of MSH5 C85T and MLH3 C2531T polymorphisms i n the risk of male infertility with azoospermia or severe oligozoospermia. (PubMed id 19808033)1, 4 Xu K....Xiang Y. (2010)
    5. MSH5 is not a genetic predisposing factor for immunog lobulin A deficiency but marks the HLA-DRB1*0102 subgroup carrying susceptibili ty. (PubMed id 20542071)1, 4 Pozo N.D....NA_A+ez C. (2010)
    6. Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection. (PubMed id 20587610)1, 4 Ucisik-Akkaya E....Tevfik Dorak M. (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. (2010)
    8. Evaluation of 172 candidate polymorphisms for associa tion with oligozoospermia or azoospermia in a large cohort of men of European d escent. (PubMed id 20378615)1, 4 Aston K.I....Carrell D.T. (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. (2009)
    10. High-density SNP screening of the major histocompatib ility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PubMed id 19851445)1, 4 Barcellos L.F....Criswell L.A. (2009)

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

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (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

    (According to HUGE)
    About This Section
      --

    (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/

    (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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