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

MSX2 Gene

protein-coding   GIFtS: 67
GCID: GC05P174084

Msh Homeobox 2

(Previous names: msh (Drosophila) homeo box homolog 2, parietal foramina...)
(Previous symbol: PFM1)
  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

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 enlarged parietal foramina, and parietal foramina with cleidocranial dysplasia. GO annotations related to this gene include transcription cofactor activity and sequence-specific 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.2  NT_023133.13  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for MSX2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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)
Subcellular location: Nucleus
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P35548

  • MSX2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MSX2 Protein Expression
    REFSEQ proteins: NP_002440.2  
    ENSEMBL proteins: 
     ENSP00000239243   ENSP00000427425  

    Human Recombinant Protein Products for MSX2: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Protein for MSX2
    OriGene Protein Over-expression Lysate for MSX2
    OriGene MassSpec for MSX2 
    OriGene Custom Protein Services for MSX2
    GenScript Custom Purified and Recombinant Proteins Services for MSX2
    Novus Biologicals MSX2 Proteins
    Novus Biologicals MSX2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MSX2 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    MSX2 for ontologies           About GeneDecksing



    MSX2 Antibody Products: 
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    Cloud-Clone Corp. Antibodies for MSX2 
    ThermoFisher Antibodies for MSX2
    LSBio Antibodies in human, mouse, rat for MSX2 

    Assay Products for MSX2: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for MSX2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MSX2 
    Cloud-Clone Corp. CLIAs for MSX2


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

    4 InterPro protein domains:
     IPR020479 Homeobox_metazoa
     IPR017970 Homeobox_CS
     IPR001356 Homeodomain
     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


    MSX2 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: 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): 5/10 molecular function terms (GO ID links to tree view) (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 ----
         
    MSX2 for ontologies           About GeneDecksing


    Phenotypes:
         15/19 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Msx2) (see all 19):
     behavior/neurological  cardiovascular system  craniofacial  digestive/alimentary  embryogenesis 
     endocrine/exocrine gland  growth/size  hearing/vestibular/ear  hematopoietic system  immune system 
     integument  limbs/digits/tail  mortality/aging  muscle  nervous system 

    MSX2 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MSX2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MSX2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MSX2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MSX2 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MSX2
    8/10 QIAGEN miScript miRNA 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
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MSX2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MSX2

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of MSX2

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for MSX2 (see all 8)
    OriGene ORF clones in mouse, rat for MSX2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    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
    Sirion Biotech Customized lentivirus for stable overexpression of MSX2 
                         Customized lentivirus expression plasmids for stable overexpression of MSX2 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for MSX2
    LifeMap BioReagents: cell lines associated with MSX2: PureStem 4D20.8, NCr-fac Progenitor,
    PureStem 7SMOO32, NCr-fac & Meso Progenitor, PureStem MEL2, NCr-fac Progenitor
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MSX2


    (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 MSX2 About                                                                                                See pathways by source

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

    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


    MSX2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MSX2

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

    5/31 Interacting proteins for MSX2 (P355483 ENSP000002392434) via UniProtKB, MINT, STRING, and/or I2D (see all 31)
    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): 5/47 biological process terms (GO ID links to tree view) (see all 47):    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--

    MSX2 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

    MSX2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about MSX2

    (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 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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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MSX2
    8/10 QIAGEN miScript miRNA 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
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MSX2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MSX2
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MSX2
      QIAGEN 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 

    24/61 AceView cDNA sequences (see all 61):

    N20373 CF529233 CR592938 CR606816 BC015509 CR622800 NM_002449 BQ013723 
    BX396092 AW949481 AL542287 BQ010957 AL550352 AW937985 D14970 BM479795 
    BT009814 BQ010767 T28264 D26145 D31771 AL576075 D89377 BM718207 

    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™, 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

    MSX2 expression in normal human tissues (normalized intensities)      MSX2 embryonic expression: see
    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 
     5/20 selected tissues (see all 20) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 40 entries
             Endochondral Preosteoblasts Caudal Endochondral Bones
             Mesenchymal Precursor Cells (STRO-3 selected)
             HyStem+TGFbeta3+GDF5-induced 7SMOO32 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 20 entries
             Prechondrocytic Mesenchymal Cells Thoracic Intervertebral Disc
             HyStem+TGFbeta3+GDF5-induced 7SMOO32 cells
     
     Tooth (Integumentary System)    fully expand to see all 10 entries
             Dental Placode Cells Dental Placode
             Dental Papilla
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 7 entries
             Cranial Neural Crest Cells Branchial Arch 1
             PureStem MEL2, NCr-fac Progenitor
     
     Head Mesenchyme (Muscoskeletal System)    fully expand to see all 7 entries
             Cranial Neural Crest Cells Branchial Arch 1
             Branchial Arch 2

    See MSX2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MSX2

    SOURCE GeneReport for Unigene cluster: Hs.89404
        SABiosciences Expression via Pathway-Focused 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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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MSX2
    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for MSX2 gene from 7/16 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 21, 5 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 79.92(n)
    85.83(a)
      395245  NM_204559.1  NP_989890.1 
    lizard
    (Anolis carolinensis)
    Reptilia MSX26
    Uncharacterized protein
    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 more
    50(a)   3 99B3   --
    worm
    (Caenorhabditis elegans)
    Secernentea vab-156
    ceh-286
    Protein CEH-28
    36(a)
    26(a)
    many → 1
    possible ortholog
    X(9847277-9849161)
    X(13074682-13076092)


    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)
    About This Section
    Paralogs for MSX2 gene
    DLX22  BARX12  NKX1-12  VENTX2  BARHL12  BARHL22  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

    MSX2 for paralogs           About GeneDecksing


    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) 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

    10/253 SNPs in MSX2 are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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]: An autosomal dominant disorder characterized by the premature
    fusion of calvarial sutures. The craniosynostosis phenotype is 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

  • 20/45 diseases for MSX2 (see all 45):    About MalaCards
    enlarged parietal foramina    parietal foramina with cleidocranial dysplasia    exencephaly    parietal foramina 1
    msx2-related craniosynostosis    craniosynostosis    cleidocranial dysplasia    inverted papilloma
    acrocephalosyndactylia    crouzon syndrome    craniosynostosis, syndromic    dental enamel hypoplasia
    dentin dysplasia    fibrodysplasia ossificans progressiva    saethre-chotzen syndrome    goldenhar syndrome
    omphalocele    fibrous dysplasia    achondroplasia    autosomal dominant disease

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

    MSX2 for disorders           About GeneDecksing

    10/17 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)
    About This Section

    PubMed articles for MSX2 gene, integrated from 9 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. (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. (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. (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. (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. (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. (1993)
    7. Association of the MSX2 gene polymorphisms with ankylosing spondylitis in Japanese. (PubMed id 18299954)1, 4, 9 Furuichi T....Ikegawa S. (2008)
    8. Molecular cloning and expression of homeobox-containing genes during hard tissue development. (PubMed id 7897272)1, 2, 9 Iimura T. (1994)
    9. MTHFR and MSX1 contribute to the risk of nonsyndromic cleft lip/palate. (PubMed id 20572854)1, 4 JagomAogi T....Metspalu A. (2010)
    10. Genetic variants in COL2A1, COL11A2, and IRF6 contrib ute risk to nonsyndromic cleft palate. (PubMed id 20672350)1, 4 Nikopensius T....Metspalu A. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4488 HGNC: 7392 AceView: MSX2 Ensembl:ENSG00000120149 euGenes: HUgn4488
    ECgene: MSX2 Kegg: 4488 H-InvDB: MSX2

    (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 MSX2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MSX2 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MSX2

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

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     Proteins for MSX2
     Antibodies for MSX2
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     Cell Lines associated with MSX2: PureStem 4D20.8, NCr-fac Progenitor,
    PureStem 7SMOO32, NCr-fac & Meso Progenitor, PureStem MEL2, NCr-fac Progenitor
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