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MSX2 Gene

protein-coding   GIFtS: 65
GCID: GC05P174084

Msh Homeobox 2

(Previous names: msh (Drosophila) homeo box homolog 2, parietal foramina...)
(Previous symbol: PFM1)
  See MSX2-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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Aliases
Msh Homeobox 21 2     Parietal Foramina 11
HOX82 3 5     Type 21
PFM11 2     FPP2
Homeobox Protein Hox-82 3     MSH2
CRS22 5     PFM2
craniosynostosis1     Homeobox Protein MSX-22
Msh (Drosophila) Homeo Box Homolog 21     Msh Homeo Box 22
Msh Homeobox Homolog 2 (Drosophila)1     Msh Homeobox Homolog 22

External Ids:    HGNC: 73921   Entrez Gene: 44882   Ensembl: ENSG000001201497   OMIM: 1231015   UniProtKB: P355483   

Export aliases for MSX2 gene to outside databases

Previous GC identifers: GC05P174439 GC05P174884 GC05P174087 GC05P174132 GC05P169247


(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 MSX2 Gene:
This gene encodes a member of the muscle segment homeobox gene family. The encoded protein is a transcriptional
repressor whose normal activity may establish a balance between survival and apoptosis of neural crest-derived
cells required for proper craniofacial morphogenesis. The encoded protein may also have a role in promoting cell
growth under certain conditions and may be an important target for the RAS signaling pathways. Mutations in this
gene are associated with parietal foramina 1 and craniosynostosis type 2. (provided by RefSeq, Jul 2008)

GeneCards Summary for MSX2 Gene:
MSX2 (msh homeobox 2) is a protein-coding gene. Diseases associated with MSX2 include msx2-related craniosynostosis, and parietal foramina 1. GO annotations related to this gene include sequence-specific DNA binding and transcription regulatory region DNA binding. An important paralog of this gene is DLX2.

UniProtKB/Swiss-Prot: MSX2_HUMAN, P35548
Function: Acts as a transcriptional regulator in bone development. Represses the ALPL promoter activity and
antogonizes the stimulatory effect of DLX5 on ALPL expression during osteoblast differentiation. Probable
morphogenetic role. May play a role in limb-pattern formation. In osteoblasts, suppresses transcription driven by
the osteocalcin FGF response element (OCFRE). Binds to the homeodomain-response element of the ALPL promoter

Gene Wiki entry for MSX2 (Msh homeobox 2) 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_000005.9  NT_023133.14  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MSX2 gene promoter:
         SRF   AP-1   SRF (504 AA)   MyoD   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMSX2 promoter sequence
   Search Chromatin IP Primers for MSX2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MSX2


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

Entrez Gene cytogenetic band: 5q35.2   Ensembl cytogenetic band:  5q35.2   HGNC cytogenetic band: 5q35.2

MSX2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MSX2 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P174084:  view genomic region     (about GC identifiers)

Start:
174,151,536 bp from pter      End:
174,157,902 bp from pter
Size:
6,367 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, 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: MSX2_HUMAN, P35548 (See protein sequence)
Recommended Name: Homeobox protein MSX-2  
Size: 267 amino acids; 28897 Da
Subunit: Interacts with MINT (By similarity). Interacts with XRCC6 (Ku70) and XRCC5 (Ku80)
Secondary accessions: D3DQN1 Q53XM4 Q9UD60

Explore the universe of human proteins at neXtProt for MSX2: NX_P35548

Explore proteomics data for MSX2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MSX2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002440.2  
    ENSEMBL proteins: 
     ENSP00000239243   ENSP00000427425  

    MSX2 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for MSX2

     
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    antibodies-online proteins for MSX2 (9 products) 

     
    antibodies-online peptides for MSX2

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    NKL: Homeoboxes / ANTP class : NKL subclass

    4 InterPro protein domains:
     IPR020479 Homeobox_metazoa
     IPR017970 Homeobox_CS
     IPR001356 Homeobox_dom
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry P35548

    ProtoNet protein and cluster: P35548

    1 Blocks protein domain: IPB000047 Lambda and other repressor helix-turn-helix signature

    UniProtKB/Swiss-Prot: MSX2_HUMAN, P35548
    Similarity: Belongs to the Msh homeobox family
    Similarity: Contains 1 homeobox DNA-binding domain


    Find genes that share domains with MSX2           About GenesLikeMe


    (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: MSX2_HUMAN, P35548
    Function: Acts as a transcriptional regulator in bone development. Represses the ALPL promoter activity and
    antogonizes the stimulatory effect of DLX5 on ALPL expression during osteoblast differentiation. Probable
    morphogenetic role. May play a role in limb-pattern formation. In osteoblasts, suppresses transcription driven by
    the osteocalcin FGF response element (OCFRE). Binds to the homeodomain-response element of the ALPL promoter

         Genatlas biochemistry entry for MSX2:
    Drosophila,muscle segment (msh) homolog 2,homeo domain encoding gene,expressed in developing teeth and various
    tumors of mesenchymal origin,also expressed in extra-embryonic tissues such as placenta,involved in
    epithelial-mesenchymal signaling in many organs,interacting with MSX1 in mouse limb bud patterning through BMP4
    regulation,involved in the enhancing of parietal bone growth

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000978RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA--
    GO:0000982RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity IEA--
    GO:0000989transcription factor binding transcription factor activity ----
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity ----
         
    Find genes that share ontologies with MSX2           About GenesLikeMe


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 6 alleles(MGI details for Msx2) (see all 19):
     behavior/neurological  cardiovascular system  craniofacial  digestive/alimentary  embryogenesis 
     endocrine/exocrine gland  growth/size/body  hearing/vestibular/ear  hematopoietic system  immune system 
     integument  limbs/digits/tail  mortality/aging  muscle  nervous system 

    Find genes that share phenotypes with MSX2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for MSX2: Msx2tm1.1Yvla Msx2tm1Rilm

       genOway: Develop your customized and physiologically relevant rodent model for MSX2

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate MSX2 (see all 10):
    hsa-miR-3163 hsa-miR-607 hsa-miR-576-5p hsa-miR-324-3p hsa-miR-618 hsa-let-7a-2* hsa-miR-4294 hsa-miR-493*
    SwitchGear 3'UTR luciferase reporter plasmidMSX2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MSX2

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    GenScript: all cDNA clones in your preferred vector: MSX2 (NM_002449)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MSX2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MSX2

    Cell Line
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    ESI BIO PureStem Progenitors for MSX2: 
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    PureStem MEL2, NCr-fac Progenitor
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MSX2


    (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
    MSX2_HUMAN, P35548: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    chloroplast2
    extracellular2
    cytoskeleton1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005667transcription factor complex IEA--
    GO:0005737cytoplasm ----

    Find genes that share ontologies with MSX2           About GenesLikeMe


    (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 MSX2 About    
    See pathways by source

    SuperPathContained pathways About
    1Neural Crest Differentiation
    Neural Crest Differentiation
    2HTLV-I infection
    HTLV-I infection


    Find genes that share SuperPaths with MSX2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for MSX2
        Neural Crest Differentiation


    1 Kegg Pathway  (Kegg details for MSX2):
        HTLV-I infection

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MSX2: 
              Stem Cell Transcription Factors in human mouse rat
              TGFB Signaling Targets in human mouse rat
              Homeobox (HOX) Genes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MSX2

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

    Selected Interacting proteins for MSX2 (P355483 ENSP000002392434) via UniProtKB, MINT, STRING, and/or I2D (see all 40)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DLX5P561783, ENSP000002225984I2D: score=4 STRING: ENSP00000222598
    MAGED1Q9Y5V33, ENSP000003648474I2D: score=3 STRING: ENSP00000364847
    GTF2F2P139843, ENSP000003408234I2D: score=2 STRING: ENSP00000340823
    MSX1P283603, ENSP000003721704I2D: score=2 STRING: ENSP00000372170
    PJA1Q8NG273, ENSP000003550144I2D: score=2 STRING: ENSP00000355014
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 49):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ISS--
    GO:0001503ossification ----
    GO:0001649osteoblast differentiation ISS--
    GO:0002063chondrocyte development IEA--
    GO:0002076osteoblast development IEA--

    Find genes that share ontologies with MSX2           About GenesLikeMe



    (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 MSX2

    3 Novoseek inferred chemical compound relationships for MSX2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    steroid 5.51 1 15945508 (1)
    calcium 0.695 3 8101453 (1), 19345526 (1), 18433704 (1)
    oligonucleotide 0 1 9084645 (1)



    Find genes that share compounds with MSX2           About GenesLikeMe



    (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 MSX2 gene: 
    NM_002449.4  

    Unigene Cluster for MSX2:

    Msh homeobox 2
    Hs.89404  [show with all ESTs]
    Unigene Representative Sequence: NM_002449
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000239243(uc003mcy.3) ENST00000507785
    miRNA
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    hsa-miR-3163 hsa-miR-607 hsa-miR-576-5p hsa-miR-324-3p hsa-miR-618 hsa-let-7a-2* hsa-miR-4294 hsa-miR-493*
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      QuantiFast Probe-based Assays in human, mouse, rat MSX2

    Additional mRNA sequence: 

    BC015509.1 BT009814.1 D14970.1 D26145.1 D31771.1 D89377.1 S75361.1 

    5 DOTS entries:

    DT.453911  DT.97781973  DT.100748443  DT.100748444  DT.100748445 

    Selected AceView cDNA sequences (see all 61):

    CR592938 BC015509 NM_002449 N20373 CR622800 CF529233 CR606816 BQ010767 
    T28264 AL550352 AL576075 AL552909 BM718207 D26145 BQ010957 BQ013723 
    BM479795 BX329936 D14970 AW937985 BX279937 AW949481 D31771 AL542287 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for MSX2    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b
    SP1:              -               
    SP2:                              


    ECgene alternative splicing isoforms for MSX2

    (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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    MSX2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATGGATGCTT
    MSX2 Expression
    About this image


    MSX2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 21) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 31 entries
             Endochondral Preosteoblasts Caudal Endochondral Bones
             Mesenchymal Precursor Cells (STRO-3 selected)
             HyStem+BMP4-induced MEL2 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 8 entries
             Prechondrocytic Mesenchymal Cells Annulus Fibrosus
             HyStem+TGFbeta3+GDF5-induced 4D20.8 cells
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 7 entries
             Cranial Neural Crest Cells Branchial Arch 1
             PureStem 4D20.8, NCr-fac Progenitor
     
     Epithelial Cells
             Fetal Hair Shaft Cuticle Cells Hair Shaft
     
     Limb (Muscoskeletal System)    fully expand to see all 5 entries
             Progress Zone Cells Limb Bud
             Autopod
    MSX2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MSX2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.89404
        Pathway & Disease-focused RT2 Profiler PCR Arrays including MSX2: 
              Stem Cell Transcription Factors in human mouse rat
              TGFB Signaling Targets in human mouse rat
              Homeobox (HOX) Genes in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MSX2

    (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 animals.

    Orthologs for MSX2 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Msx21 , 5 homeobox, msh-like 25
    msh homeobox 21
    88.01(n)1
    92.51(a)1
      13 (27.84 cM)5
    177021  NM_013601.21  NP_038629.21 
     534678775 
    chicken
    (Gallus gallus)
    Aves MSX21 msh homeobox 2 79.27(n)
    85.04(a)
      395245  NM_204559.1  NP_989890.1 
    lizard
    (Anolis carolinensis)
    Reptilia MSX26
    msh homeobox 2
    79(a)
    1 ↔ 1
    2(136558481-136571131)
    African clawed frog
    (Xenopus laevis)
    Amphibia msx2-A2 msh homeo box homolog 2 79.06(n)    X58772.1 
    zebrafish
    (Danio rerio)
    Actinopterygii NM_131274.12   -- 75.7(n)   30528  NM_131274.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Dr3 dorsal/ventral pattern formation,
    imaginal disc specific RNA polymerase
    II transcription factor less
    50(a)   3 99B3   --
    worm
    (Caenorhabditis elegans)
    Secernentea vab-156
    Protein VAB-15 (vab-15) mRNA, complete cds
    39(a)
    1 → many
    X(9847277-9849733) WBGene00006881


    ENSEMBL Gene Tree for MSX2 (if available)
    TreeFam Gene Tree for MSX2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MSX2 gene
    DLX22  BARX12  GBX12  NKX1-12  VENTX2  GBX22  BARHL12  BARHL22  
    MNX12  BARX22  DLX12  DLX32  LBX22  NKX1-22  BSX2  DLX52  
    DLX62  DLX42  LBX12  MSX12  
    1 SIMAP similar gene for MSX2 using alignment to 2 protein entries:     MSX2_HUMAN (see all proteins):
    MSX1

    Find genes that share paralogs with MSX2           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for MSX2
    PGOHUM00000237445


    (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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    Selected SNPs for MSX2 (see all 253)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0037554
    Craniosynostosis 2 (CRS2)4--see VAR_0037552 P H mis40--------
    VAR_0102014
    Parietal foramina 1 (PFM1)4--see VAR_0102012 R H mis40--------
    VAR_0107864
    Parietal foramina 1 (PFM1)4--see VAR_0107862 L P mis40--------
    rs1048938951,2
    Cpathogenic1174382611(+) CACGCA/CCTTTA 2 H P mis10--------
    rs1048938961,2
    Cpathogenic1174382683(+) AGAGCA/GTGCAG 2 H R mis10--------
    rs46479521,2
    C,Funtested1174378034(+) AGCTAC/GGTAGG 1 -- ut51 ese34Minor allele frequency- G:0.09NA 46
    rs20481521,2
    C,Auntested1174378488(-) ACCCGT/CCCCCC 1 -- int111Minor allele frequency- C:0.21NA WA CSA EA 372
    rs42421821,2,,4
    C,F,A,Huntested1174382554(+) ACATAC/TGAGCC 2 T M mis130Minor allele frequency- T:0.25NA NS EA WA CSA EU 8666
    rs1450718921,2
    C--169248005(+) CACGA-/AGGGAT
    GGTGGCACC
    AGGGA
    1 -- int10--------
    rs669889231,2
    C--169248018(+) TGGCACCAGGGAT
    GGTGGCA
    /-
    TCAGA
    1 -- int11Minor allele frequency- -:0.50NA 2

    HapMap Linkage Disequilibrium report for MSX2 (174151536 - 174157902 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for MSX2: --
    Human Gene Mutation Database (HGMD): MSX2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MSX2
    DNA2.0 Custom Variant and Variant Library Synthesis for MSX2

    (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.)
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    OMIM gene information: 123101   
    OMIM disorders: 604757  168500  168550  
    UniProtKB/Swiss-Prot: MSX2_HUMAN, P35548
  • Parietal foramina 1 (PFM1) [MIM:168500]: Autosomal dominant disease characterized by oval defects of the
    parietal bones caused by deficient ossification around the parietal notch, which is normally obliterated during
    the fifth fetal month. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Parietal foramina with cleidocranial dysplasia (PFMCCD) [MIM:168550]: Combines skull defects in the form
    of enlarged parietal foramina and deficient ossification of the clavicles. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Craniosynostosis 2 (CRS2) [MIM:604757]: A primary abnormality of skull growth involving premature fusion
    of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain
    resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated
    promptly to avoid permanent neurodevelopmental disability. CRS2 is characterized by either fronto-orbital
    recession, or frontal bossing, or turribrachycephaly, or cloverleaf skull. Associated features include severe
    headache, high incidence of visual problems (myopia or hyperopia), and short first metatarsals. Intelligence is
    normal. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 14 diseases for MSX2:    
    About MalaCards
    msx2-related craniosynostosis    parietal foramina 1    exencephaly    craniosynostosis
    enlarged parietal foramina    craniosynostosis, type 2    parietal foramina with cleidocranial dysplasia    cleidocranial dysplasia
    acrocephalosyndactylia    inverted papilloma    crouzon syndrome    saethre-chotzen syndrome
    dentin dysplasia    fibrous dysplasia

    4 diseases from the University of Copenhagen DISEASES database for MSX2:
    Craniosynostosis     Syndactyly     Acrocephalosyndactylia     Cleidocranial dysplasia

    Find genes that share disorders with MSX2           About GenesLikeMe

    Selected Novoseek inferred disease relationships for MSX2 gene (see all 17)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    craniosynostosis, boston-type 94.3 7 18000908 (1), 18786927 (1), 9342602 (1), 11683913 (1) (see all 5)
    parietal foramina 94.2 7 16319823 (2), 10879654 (1), 11017806 (1), 11277076 (1) (see all 6)
    craniosynostosis 84.9 35 12407713 (2), 12674336 (2), 10742103 (2), 9917362 (2) (see all 20)
    dentin dysplasia 65.6 1 17277871 (1)
    synostosis 65.4 3 16540516 (2), 17552943 (1)
    saethre-chotzen syndrome 57.2 1 11106354 (1)
    exencephaly 55.1 2 11320527 (2)
    cleidocranial dysplasia 47.6 1 14571277 (1)
    crouzon syndrome 44.4 2 7632866 (1), 8664424 (1)
    calcification 42.4 11 16831933 (3), 17339734 (2), 14504275 (2), 16037577 (1) (see all 6)

    GeneTests: MSX2
    GeneReviews: MSX2
    Genetic Association Database (GAD): MSX2
    Human Genome Epidemiology (HuGE) Navigator: MSX2 (12 documents)

    Export disorders for MSX2 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 MSX2 gene, integrated from 10 sources (see all 236):
    (articles sorted by number of sources associating them with MSX2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna. (PubMed id 10767351)1, 2, 9 Wuyts W.... Van Hul W. (Hum. Mol. Genet. 2000)
    2. Characterization of a human MSX-2 cDNA and its fragment isolated as a transformation suppressor gene against v-Ki-ras oncogene. (PubMed id 8668339)1, 3, 9 Takahashi C....Noda M. (Oncogene 1996)
    3. Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2. (PubMed id 14571277)1, 2, 9 Garcia-Minaur S.... Wilkie A.O.M. (Eur. J. Hum. Genet. 2003)
    4. Regulation of osteocalcin gene expression by a novel Ku antigen transcription factor complex. (PubMed id 12145306)1, 2, 9 Willis D.M.... Towler D.A. (J. Biol. Chem. 2002)
    5. Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification. (PubMed id 10742103)1, 2, 9 Wilkie A.O.M.... Maxson R.E. Jr. (Nat. Genet. 2000)
    6. Expression of a human homeobox-containing gene is regulated by 1,25(OH)2D3 in bone cells. (PubMed id 8101453)1, 2, 9 Hodgkinson J.E.... Sharpe P.T. (Biochim. Biophys. Acta 1993)
    7. Association of the MSX2 gene polymorphisms with ankylosing spondylitis in Japanese. (PubMed id 18299954)1, 4, 9 Furuichi T....Ikegawa S. (J. Hum. Genet. 2008)
    8. Molecular cloning and expression of homeobox-containing genes during hard tissue development. (PubMed id 7897272)1, 2, 9 Iimura T. (Kokubyo Gakkai Zasshi 1994)
    9. MTHFR and MSX1 contribute to the risk of nonsyndromic cleft lip/palate. (PubMed id 20572854)1, 4 JagomAogi T....Metspalu A. (Eur. J. Oral Sci. 2010)
    10. Genetic variants in COL2A1, COL11A2, and IRF6 contribute risk to nonsyndromic cleft palate. (PubMed id 20672350)1, 4 Nikopensius T....Metspalu A. (Birth Defects Res. Part A Clin. Mol. Teratol. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 4488 HGNC: 7392 AceView: MSX2 Ensembl:ENSG00000120149 euGenes: HUgn4488
    ECgene: MSX2 Kegg: 4488 H-InvDB: MSX2

    (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 MSX2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MSX2 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MSX2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MSX2 gene:
    Search GeneIP for patents involving MSX2

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



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