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MESP2 Gene

protein-coding   GIFtS: 52
GCID: GC15P090319

Mesoderm Posterior 2 Homolog (Mouse)

  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)
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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
Mesoderm Posterior 2 Homolog (Mouse)1 2
SCDO22 3 5
Class C Basic Helix-Loop-Helix Protein 62 3
bHLHc62 3
Mesoderm Posterior Protein 22
BHLHC63

External Ids:    HGNC: 296591   Entrez Gene: 1458732   Ensembl: ENSG000001880957   OMIM: 6051955   UniProtKB: Q0VG993   
ORGUL members:         

Export aliases for MESP2 gene to outside databases

Previous GC identifers: GC15P083669 GC15P087891 GC15P088049 GC15P088120 GC15P066432


(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 MESP2 Gene:
This gene encodes a member of the bHLH family of transcription factors and plays a key role in defining the
rostrocaudal patterning of somites via interactions with multiple Notch signaling pathways. This gene is
expressed in the anterior presomitic mesoderm and is downregulated immediately after the formation of segmented
somites. This gene also plays a role in the formation of epithelial somitic mesoderm and cardiac mesoderm.
Mutations in the MESP2 gene cause autosomal recessive spondylocostal dystosis 2 (SCD02). (provided by RefSeq, Oct
2008)

GeneCards Summary for MESP2 Gene:
MESP2 (mesoderm posterior 2 homolog (mouse)) is a protein-coding gene. Diseases associated with MESP2 include spondylocostal dysostosis, autosomal recessive, and spondylocostal dysostosis 2. GO annotations related to this gene include protein dimerization activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is MSGN1.

UniProtKB/Swiss-Prot: MESP2_HUMAN, Q0VG99
Function: Transcription factor with important role in somitogenesis. Defines the rostrocaudal patterning of the
somite by participating in distinct Notch pathways. Regulates also the FGF signaling pathway. Specifies the
rostral half of the somites. Generates rostro-caudal polarity of somites by down-regulating in the presumptive
rostral domain DLL1, a Notch ligand. Participates in the segment border formation by activating in the anterior
presomitic mesoderm LFNG, a negative regulator of DLL1-Notch signaling. Acts as a strong suppressor of Notch
activity. Together with MESP1 is involved in the epithelialization of somitic mesoderm and in the development of
cardiac mesoderm

Gene Wiki entry for MESP2 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:
NC_000015.10  NC_018926.2  NT_010194.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the MESP2 gene promoter:
         COUP-TF1   NF-1/L   NF-1   MAZR   COUP   Nkx2-5   HNF-4alpha1   COUP-TF   COMP1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for MESP2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MESP2


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

Entrez Gene cytogenetic band: 15q26.1   Ensembl cytogenetic band:  15q26.1   HGNC cytogenetic band: 15q26.1

MESP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MESP2 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P090319:  view genomic region     (about GC identifiers)

Start:
90,303,822 bp from pter      End:
90,321,985 bp from pter
Size:
18,164 bases      Orientation:
plus strand

(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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: MESP2_HUMAN, Q0VG99 (See protein sequence)
Recommended Name: Mesoderm posterior protein 2  
Size: 397 amino acids; 41760 Da
Sequence caution: Sequence=DAA00304.1; Type=Erroneous gene model prediction;
Secondary accessions: Q7RTU2

Explore the universe of human proteins at neXtProt for MESP2: NX_Q0VG99

Explore proteomics data for MESP2 at MOPED

Post-translational modifications: 

  • Degraded by the proteasome (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MESP2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001035047.1  
    ENSEMBL proteins: 
     ENSP00000452998   ENSP00000342392  

    MESP2 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for MESP2
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    Novus Biologicals MESP2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MESP2

    MESP2 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Novus Biologicals MESP2 Antibodies
    Abcam antibodies for MESP2
    Cloud-Clone Corp. Antibodies for MESP2
    ThermoFisher Antibody for MESP2
    LSBio Antibodies in human, mouse, rat for MESP2

    MESP2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for MESP2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MESP2
    Cloud-Clone Corp. CLIAs for MESP2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    bHLH: Basic helix-loop-helix proteins

    1 InterPro protein domain:
     IPR011598 bHLH_dom

    Graphical View of Domain Structure for InterPro Entry Q0VG99

    ProtoNet protein and cluster: Q0VG99

    1 Blocks protein domain: IPB001092 Basic helix-loop-helix dimerization domain bHLH

    UniProtKB/Swiss-Prot: MESP2_HUMAN, Q0VG99
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain


    MESP2 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MESP2_HUMAN, Q0VG99
    Function: Transcription factor with important role in somitogenesis. Defines the rostrocaudal patterning of the
    somite by participating in distinct Notch pathways. Regulates also the FGF signaling pathway. Specifies the
    rostral half of the somites. Generates rostro-caudal polarity of somites by down-regulating in the presumptive
    rostral domain DLL1, a Notch ligand. Participates in the segment border formation by activating in the anterior
    presomitic mesoderm LFNG, a negative regulator of DLL1-Notch signaling. Acts as a strong suppressor of Notch
    activity. Together with MESP1 is involved in the epithelialization of somitic mesoderm and in the development of
    cardiac mesoderm

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0046983protein dimerization activity IEA--
         
    MESP2 for ontologies           About GeneDecksing


    Phenotypes:
         12 MGI mutant phenotypes (inferred from 21 alleles(MGI details for Mesp2):
     cardiovascular system  cellular  embryogenesis  growth/size/body  integument 
     limbs/digits/tail  mortality/aging  muscle  nervous system  no phenotypic analysis 
     normal  skeleton 

    MESP2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for MESP2: Mesp2tm1Ysa Mesp1/Mesp2Mesp1/tm1Ysa

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MESP2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MESP2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MESP2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MESP2

    miRNA
    Products:
        
    miRTarBase miRNAs that target MESP2:
    hsa-mir-142-3p (MIRT021550)

    Block miRNA regulation of human, mouse, rat MESP2 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate MESP2
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MESP2

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for MESP2 (see all 5)
    OriGene ORF clones in mouse, rat for MESP2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MESP2 (NM_001039958)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MESP2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MESP2

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for MESP2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MESP2


    (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 UniProtKB/Swiss-Prot
    MESP2_HUMAN, Q0VG99: Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    MESP2 for ontologies           About GeneDecksing


    (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 MESP2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Cardiac Progenitor Differentiation
    Cardiac Progenitor Differentiation


    1 BioSystems Pathway for MESP2
        Cardiac Progenitor Differentiation


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MESP2
    Interactions:

        Search GeneGlobe Interaction Network for MESP2

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001756somitogenesis IEA--
    GO:0006351transcription, DNA-templated IEA--
    GO:0007219Notch signaling pathway IEA--
    GO:0008078mesodermal cell migration IEA--
    GO:0023019signal transduction involved in regulation of gene expression IEA--

    MESP2 for ontologies           About GeneDecksing



    (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 MESP2



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MESP2 gene: 
    NM_001039958.1  

    Unigene Cluster for MESP2:

    Mesoderm posterior 2 homolog (mouse)
    Hs.37311  [show with all ESTs]
    Unigene Representative Sequence: NM_001039958
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000560219(uc010uqa.2) ENST00000558723 ENST00000341735(uc002bon.3)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat MESP2 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate MESP2
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for MESP2
    Predesigned siRNA for gene silencing in human, mouse, rat MESP2
    Clone
    Products:
         
    OriGene clones in human, mouse for MESP2 (see all 5)
    OriGene ORF clones in mouse, rat for MESP2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MESP2 (NM_001039958)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MESP2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MESP2
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for MESP2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MESP2
      QuantiTect SYBR Green Assays in human, mouse, rat MESP2
      QuantiFast Probe-based Assays in human, mouse, rat MESP2

    Additional mRNA sequence: 

    AL360139.1 BC111413.1 

    3 DOTS entries:

    DT.97785016  DT.97787427  DT.206729 

    18 AceView cDNA sequences:

    BQ431918 BM715377 W74095 AL360139 H56469 BG194549 BG188855 BG197584 
    BG184125 BG210519 BG195583 BG186250 BM665157 BG187796 BG182056 W79386 
    BG183615 H56470 

    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™, 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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    MESP2 expression in normal human tissues (normalized intensities)      MESP2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCTCCTTTA
    MESP2 Expression
    About this image


    MESP2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             Cardiac Progenitor Cells Mesoderm
     
     Mesoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
             Cardiac Progenitor Cells Mesoderm
     
     NULL (Uncategorized)
             Mesoderm-like cells
     
     Lateral Plate Mesoderm (Gastrulation Derivatives)
             Pre-myocardial Cells Cardiogenic Mesoderm
    MESP2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MESP2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.37311
        Custom PCR Arrays for MESP2
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for MESP2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MESP2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MESP2

    (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 chordates.

    Orthologs for MESP2 gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mesp21 , 5 mesoderm posterior 21, 5 74.98(n)1
    66.85(a)1
      7 (45.18 cM)5
    172931  NM_008589.21  NP_032615.21 
     798107275 
    zebrafish
    (Danio rerio)
    Actinopterygii mespbb6
    mespba6
    (see all 5)
    mesoderm posterior ba
    (see all 5)
    30(a)
    30(a)
    (see all 5)
    many ↔ many
    many ↔ many
    (see all 5)
    25(11392554-11393558) ENSDARG00000097947
    7(16082277-16085567) ENSDARG00000030347


    ENSEMBL Gene Tree for MESP2 (if available)
    TreeFam Gene Tree for MESP2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MESP2 gene
    MSGN12  MESP12  
    2 SIMAP similar genes for MESP2 using alignment to 2 protein entries:     MESP2_HUMAN (see all proteins):
    TAL2    MESP1

    MESP2 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), 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)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    MESP2_HUMAN, Q0VG99: The number of GQ repeats at position 179 is polymorphic


    Selected SNPs for MESP2 (see all 137)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs716478091,2,,4
    Cnon-pathogenic170044879(+) AGAGGC/GAGCCG 2 A G mis10--------
    rs716478081,2
    Cpathogenic170044989(+) TGCACC/G/TAGTTG 2 E * stg10--------
    rs716478061,2
    Cpathogenic170045055(+) AGACGC/GTGCGC 2 L V mis10--------
    rs1512264541,2
    C--70042749(+) TCCCTC/GGTCTT 1 -- us2k10--------
    rs64966011,2
    C,F,A,H--70042788(+) CCTTTC/TCCCAA 1 -- us2k1 trp324Minor allele frequency- T:0.32NS EA NA WA CSA 2346
    rs1891953871,2
    --70042820(+) TCTCCC/TTTAAA 1 -- us2k10--------
    rs727545561,2
    --70042881(+) ACTATC/TCCTTA 1 -- us2k10--------
    rs64966021,2
    C,F,A,H--70042891(+) ACACAA/GTCCCA 1 -- us2k1 tfbs333Minor allele frequency- G:0.32NA NS EA WA CSA 2908
    rs1402577491,2
    --70043085(+) TTACTA/GGTTGC 1 -- us2k10--------
    rs1922087401,2
    --70043156(+) CAAGGC/TGGGTG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for MESP2 (90303822 - 90321985 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for MESP2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2750008CNV Deletion23290073
    esv2750009CNV Deletion23290073
    dgv2434n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): MESP2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MESP2
    DNA2.0 Custom Variant and Variant Library Synthesis for MESP2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605195   
    OMIM disorders: 608681  
    UniProtKB/Swiss-Prot: MESP2_HUMAN, Q0VG99
  • Spondylocostal dysostosis 2 (SCDO2) [MIM:608681]: An autosomal recessive condition of variable severity
    associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of
    vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine
    (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a
    dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated
    respiratory infections resulting in life-threatening complications in the first year of life. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 10 diseases for MESP2:    About MalaCards
    spondylocostal dysostosis, autosomal recessive    spondylocostal dysostosis 2    mesp2-related spondylocostal dysostosis, autosomal recessive    spondylocostal dysostosis 1
    spondylocostal dysostosis    cadasil    dysostosis    alagille syndrome
    multiple myeloma    myeloma

    2 diseases from the University of Copenhagen DISEASES database for MESP2:
    Spondylocostal dysostosis     Alagille syndrome

    MESP2 for disorders           About GeneDecksing

    GeneTests: MESP2
    GeneReviews: MESP2

    Export disorders for MESP2 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)
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    PubMed articles for MESP2 gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with MESP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Transcriptional regulation of Mesp1 and Mesp2 genes: differential usage of enhancers during development. (PubMed id 11578861)1, 3, 9 Haraguchi S....Saga Y. (Mech. Dev. 2001)
    2. Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho- Levin syndrome. (PubMed id 18485326)1, 2 Cornier A.S.... Pourquie O. (Am. J. Hum. Genet. 2008)
    3. Mutated MESP2 causes spondylocostal dysostosis in humans. (PubMed id 15122512)1, 2 Whittock N.V.... Turnpenny P.D. (Am. J. Hum. Genet. 2004)
    4. Exhaustive identification of human class II basic helix-loop-helix proteins by virtual library screening. (PubMed id 14516699)1, 2 McLellan A.S.... Kealey T. (Mech. Dev. 2002)
    5. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    6. Mutation analysis of MESP2, HES7 and DUSP6 gene exons in patients with congenital scoliosis. (PubMed id 22744456)1 Qiu X.S....Qiu Y. (Stud Health Technol Inform 2012)
    7. Analysis of the DNA sequence and duplication history of human chromosome 15. (PubMed id 16572171)2 Zody M.C....Nusbaum C. (Nature 2006)
    8. Cooperative Mesp activity is required for normal somitogenesis along the anterior-posterior axis. (PubMed id 16996494)1 Morimoto M....Saga Y. (Dev. Biol. 2006)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 145873 HGNC: 29659 AceView: MESP2 Ensembl:ENSG00000188095 euGenes: HUgn145873
    ECgene: MESP2 H-InvDB: MESP2

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MESP2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MESP2[genesymbol]

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    Patent Information for MESP2 gene:
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