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

MSX2 Gene

protein-coding   GIFtS: 64
GCID: GC05P174084

msh homeobox 2

(Previous names: msh (Drosophila) homeo box homolog 2, parietal foramina...)
(Previous symbol: PFM1)
 Explore 51 diseases affiliated with
MSX2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for MSX2    

Aliases
for MSX2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Msh Homeobox 21 2     Homeobox Protein Hox-82 3
HOX81 2 3 5     Msh (Drosophila) Homeo Box Homolog 21
CRS21 2 5     Msh Homeobox Homolog 2 (Drosophila)1
FPP1 2     Parietal Foramina 11
MSH1 2     Homeobox Protein MSX-22
PFM1 2     Msh Homeo Box 22
PFM11 2     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


Summaries
for MSX2 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for MSX2:
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)

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)


Genomic Views
for MSX2 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  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 plasmid: MSX2 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:
 174,158,144 bp from pter
Size:
 6,609 bases      Orientation:
 plus strand

Proteins
for MSX2 gene

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P35548

    • MSX2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_002440.2  
    ENSEMBL proteins: 
     ENSP00000239243   ENSP00000427425  

    Human Recombinant Protein Products: 
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    OriGene Purified Protein: MSX2
    OriGene Protein Over-expression Lysate: MSX2
    OriGene Custom Protein Services for MSX2 
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    Novus Biologicals MSX2 Proteins
    Novus Biologicals MSX2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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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    Uscn Antibodies for MSX2
    ThermoFisher Antibody for MSX2

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    Uscn ELISAs and CLIAs for MSX2

    Protein Domains /
    Families
    for MSX2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    MSX2 for domains           About GeneDecksing

    4 InterPro domains/families:
     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 family: 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


    Function
    for MSX2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
    Products:            		 OriGene 3'-UTR Clone: MSX2
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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 plasmid: MSX2 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MSX2 (see all 7)
    OriGene shRNA RFP: MSX2
    OriGene siRNA: MSX2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MSX2

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for MSX2

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MSX2 (see all 3)
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    GenScript: all cDNA clones in your preferred vector: MSX2 (NM_002449)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MSX2 

    Cell Line
    Products:             		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

    Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    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


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


    Pathways & Interactions
    for MSX2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Neural Crest Differentiation
    		Neural Crest Differentiation1.00


    1 BioSystems Pathway for MSX2 
        Neural Crest Differentiation


    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): 5/46 biological process terms (GO ID links to tree view) (see all 46):    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



    Drugs & Compounds
    for MSX2 gene

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

    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 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 

    Transcripts
    for MSX2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for 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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    Browse OriGene MicroRNA Expression Plasmids
    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 plasmid: MSX2 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MSX2 (see all 7)
    OriGene shRNA RFP: MSX2
    OriGene siRNA: MSX2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MSX2
    Clone
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    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MSX2 (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: MSX2 (NM_002449)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MSX2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MSX2 
    Primer
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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 cDNA 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):

    CF529233 NM_002449 CR606816 CR622800 N20373 CR592938 BC015509 D31771 
    AW937985 D14970 BQ013723 AL550393 AL576075 AW949481 BX329936 AL542287 
    T28264 BT009814 AI138926 BU931083 AL550352 BQ010767 D26145 D89377 

    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

    Expression
    for MSX2 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MSX2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATGGATGCTT

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

    MSX2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/49 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 49) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneAutopod PeriosteumEndochondral OsteocytesBone
    BoneCaudal Endochondral BonesEndochondral OsteocytesBone
    BoneCaudal Endochondral BonesEndochondral PreosteoblastsBone
    BoneEndochondral Facial BonesEndochondral OsteocytesBone
    BoneEndochondral Facial BonesEndochondral PreosteoblastsBone
    BoneFacial SuturesFacial Fusing Suture CellsBone
    BoneFacial SuturesFacial Presumptive Suture CellsBone
    BoneMembranous Facial BonesIntramembranous OsteoblastsBone
    BoneMembranous Facial BonesIntramembranous PreosteoblastsBone
    BoneMembranous Facial BonesIntramembrenous OsteocytesBone
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 10/12 LifeMap Cells (see all 12) 
    NameCategory
    Mesenchymal Precursor Cells (STRO-3 selected) (Adult Stem / Progenitor Cell)Bone
    PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor 7SMOO32 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor 4D20.8 (Embryonic Progenitor Cell)Lateral Plate Mesoderm, Neural Crest
    PureStem™ progenitor SM22 (Embryonic Progenitor Cell)
    Endoderm progenitor-like cells (Generation and expan...)
    Trophoblast-like cells (Generation of tropho...)
    Syncytiotrophoblast-like cells (Generation of syncyt...)
    Primitive gut tube-like cells (A scalable, suspensi...)
    Mesoderm-like cells (Derivation of cardio...)

    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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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MSX2

    Orthologs
    for MSX2 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for MSX2 gene from 6/19 species (see all 19)    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 
     534668815 
    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
    		 --
    		 78(a)
    		 1 ↔ 1
    		 2(136559010-136568417)
    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 
    worm
    (Caenorhabditis elegans)    		 Secernentea vab-156
    		 Homeobox protein vab-15
    		 34(a)
    		 possible ortholog
    		 X(9847219-9849103)


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

    Paralogs
    for MSX2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MSX2 gene
    DLX22  BARX12  BSX2  DLX52  DLX62  BARHL22  BARHL12  DLX42  
    BARX22  DLX12  MSX12  DLX32  
    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


    Genomic Variants
    for MSX2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/209 NCBI SNPs in MSX2 are shown (see all 209)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 5 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1048938951,2
    		Cpathogenic171673023(+) CACGCA/CCTTTA 2 H P mis10--------
    rs18483251,2
    		C--169246657(-) TCTCTC/TTTTTG 1 -- us2k1 trp30--------
    rs100400541,2
    		C,F,--169246870(+) GAAGAG/ACCAAT 1 -- us2k1 tfbs31Minor allele frequency- A:0.11WA 118
    rs68961961,2
    		C,--169247512(+) GTGTTC/TCAGGG 1 -- int12Minor allele frequency- T:0.03NA WA 120
    rs68961971,2
    		C,--169247513(+) TGTTCC/TAGGGC 1 -- int13Minor allele frequency- T:0.04NA WA 122
    rs669889231,2
    		C--169248018(+) TGGCACCAGGGAT
    GGTGGCA    /-    TCAGA     		1 -- int11Minor allele frequency- -:0.50NA 2
    rs1165485491,2
    		C,F,--169248098(+) GCAAGG/ATTCTG 1 -- int11Minor allele frequency- A:0.09WA 118
    rs733404221,2
    		C,F,--169248156(+) GGCTCA/CCAGTA 1 -- int13Minor allele frequency- C:0.06WA 122
    rs776021511,2
    		F,--169248380(+) ACGCCC/GTGCTC 1 -- int11Minor allele frequency- G:0.09WA 118
    rs757073581,2
    		F,--169249246(+) GTCCAG/CAGGTT 1 -- int11Minor allele frequency- C:0.03WA 118

    HapMap Linkage Disequilibrium report for MSX2 (174151536 - 174158144 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for MSX2: --
    Human Gene Mutation Database (HGMD): MSX2

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MSX2
    DNA2.0 Custom Variant and Variant Library Synthesis for MSX2

    Disorders / Diseases
    for MSX2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    MSX2 for disorders           About GeneDecksing

    OMIM gene information: 123101   
    OMIM disorders: 604757  168500  168550  
    UniProtKB/Swiss-Prot: MSX2_HUMAN, P35548
  • Defects in MSX2 are the cause of parietal foramina 1 (PFM1) [MIM:168500]; also known as foramina parietalia
    • permagna (FPP). PFM1 is an 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
  • Defects in MSX2 are the cause of parietal foramina with cleidocranial dysplasia (PFMCCD) [MIM:168550]; also
    • known as cleidocranial dysplasia with parietal foramina. PFMCCD combines skull defects in the form of enlarged
    parietal foramina and deficient ossification of the clavicles
  • Defects in MSX2 are the cause of craniosynostosis type 2 (CRS2) [MIM:604757]; also known as craniosynostosis
    • Boston-type (CSB). CRS2 is 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

    20/51 diseases for MSX2 (see all 51):    About MalaCards
    parietal foramina    parietal foramina 1    enlarged parietal foramina    craniosynostosis
    saethre-chotzen syndrome    parietal foramina with cleidocranial dysplasia    fibrodysplasia ossificans progressiva    cleidocranial dysplasia
    craniofacial anomalies    dental enamel hypoplasia    cleft lip/palate    neural tube defect
    dentin dysplasia    amelogenesis imperfecta    crouzon syndrome    exencephaly
    treacher collins syndrome    cleft lip    fibrous dysplasia    inverted papilloma

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

    10/17 Novoseek 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
    Enlarged Parietal Foramina/Cranium Bifidum

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

    Export disorders for MSX2 gene to outside databases

    Publications
    for MSX2 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MSX2 gene, integrated from 9 sources (see all 228):
    (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. Molecular cloning and expression of homeobox-containing genes during hard tissue development. (PubMed id 7897272)1, 2, 9 Iimura T. (1994)
    8. Medical Sequencing of Candidate Genes for Nonsyndromic Cleft Lip and Palate. (PubMed id 16327884)1, 4 Vieira A.R.... Murray J.C. (2005)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. Characterization of two length cDNA for human MSX-2 from dental pulp- derived cells. (PubMed id 9522127)1, 2 Iimura T.... Oida S. (1997)

    External Searches for MSX2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing MSX2 gene

    (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 H-InvDB: MSX2

    Other Databases showing MSX2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing MSX2 gene

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

    Intellectual Property
    for MSX2 gene

    (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:
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     MSX2 Proteins, Antibodies, CLIAs, and ELISAs
     Cell Lines associated with MSX2: PureStem 4D20.8, NCr-fac Progenitor,
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