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Aliases for MSX2 Gene

Aliases for MSX2 Gene

  • Msh Homeobox 2 2 3 5
  • Homeobox Protein Hox-8 3 4
  • HOX8 3 4
  • Msh (Drosophila) Homeo Box Homolog 2 2
  • Msh Homeobox Homolog 2 (Drosophila) 2
  • Msh Homeobox Homolog 2 3
  • Parietal Foramina 1 2
  • Craniosynostosis 2
  • Msh Homeo Box 2 3
  • Type 2 2
  • CRS2 3
  • PFM1 3
  • FPP 3
  • MSH 3
  • PFM 3

External Ids for MSX2 Gene

Previous HGNC Symbols for MSX2 Gene

  • PFM1

Previous GeneCards Identifiers for MSX2 Gene

  • GC05P174439
  • GC05P174884
  • GC05P174087
  • GC05P174132
  • GC05P174084
  • GC05P169247

Summaries for MSX2 Gene

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 craniosynostosis, type 2 and parietal foramina 1. Among its related pathways are Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers and HTLV-I infection. GO annotations related to this gene include sequence-specific DNA binding and RNA polymerase II core promoter proximal region sequence-specific DNA binding. An important paralog of this gene is DLX5.

UniProtKB/Swiss-Prot for MSX2 Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MSX2 Gene

Genomics for MSX2 Gene

Regulatory Elements for MSX2 Gene

Promoters for MSX2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MSX2 on UCSC Golden Path with GeneCards custom track

Genomic Location for MSX2 Gene

Chromosome:
5
Start:
174,724,533 bp from pter
End:
174,730,899 bp from pter
Size:
6,367 bases
Orientation:
Plus strand

Genomic View for MSX2 Gene

Genes around MSX2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MSX2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MSX2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MSX2 Gene

Proteins for MSX2 Gene

  • Protein details for MSX2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35548-MSX2_HUMAN
    Recommended name:
    Homeobox protein MSX-2
    Protein Accession:
    P35548
    Secondary Accessions:
    • D3DQN1
    • Q53XM4
    • Q9UD60

    Protein attributes for MSX2 Gene

    Size:
    267 amino acids
    Molecular mass:
    28897 Da
    Quaternary structure:
    • Interacts with MINT (By similarity). Interacts with XRCC6 (Ku70) and XRCC5 (Ku80).

neXtProt entry for MSX2 Gene

Proteomics data for MSX2 Gene at MOPED

Post-translational modifications for MSX2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MSX2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MSX2 Gene

Domains & Families for MSX2 Gene

Gene Families for MSX2 Gene

Suggested Antigen Peptide Sequences for MSX2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P35548

UniProtKB/Swiss-Prot:

MSX2_HUMAN :
  • Contains 1 homeobox DNA-binding domain.
  • Belongs to the Msh homeobox family.
Domain:
  • Contains 1 homeobox DNA-binding domain.
Family:
  • Belongs to the Msh homeobox family.
genes like me logo Genes that share domains with MSX2: view

Function for MSX2 Gene

Molecular function for MSX2 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for MSX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding IEA --
GO:0043565 sequence-specific DNA binding IEA,IDA 9073066
GO:0044212 transcription regulatory region DNA binding IEA,ISS --
genes like me logo Genes that share ontologies with MSX2: view
genes like me logo Genes that share phenotypes with MSX2: view

Human Phenotype Ontology for MSX2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MSX2 Gene

MGI Knock Outs for MSX2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MSX2 Gene

Localization for MSX2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MSX2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MSX2 Gene COMPARTMENTS Subcellular localization image for MSX2 gene
Compartment Confidence
nucleus 5
cytoskeleton 1
extracellular 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for MSX2 Gene

Pathways & Interactions for MSX2 Gene

genes like me logo Genes that share pathways with MSX2: view

Pathways by source for MSX2 Gene

1 BioSystems pathway for MSX2 Gene
1 KEGG pathway for MSX2 Gene

SIGNOR curated interactions for MSX2 Gene

Activates:

Gene Ontology (GO) - Biological Process for MSX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter ISS --
GO:0001503 ossification IEA --
GO:0001649 osteoblast differentiation IEA,ISS --
GO:0002063 chondrocyte development IEA --
GO:0002076 osteoblast development IEA --
genes like me logo Genes that share ontologies with MSX2: view

Drugs & Compounds for MSX2 Gene

(1) Drugs for MSX2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for MSX2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MSX2: view

Transcripts for MSX2 Gene

mRNA/cDNA for MSX2 Gene

(1) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(61) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MSX2 Gene

Msh homeobox 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MSX2 Gene

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

Relevant External Links for MSX2 Gene

GeneLoc Exon Structure for
MSX2
ECgene alternative splicing isoforms for
MSX2

Expression for MSX2 Gene

mRNA expression in normal human tissues for MSX2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MSX2 Gene

This gene is overexpressed in Bladder (x8.1), Artery - Tibial (x5.4), and Skin - Not Sun Exposed (Suprapubic) (x5.0).

Protein differential expression in normal tissues from HIPED for MSX2 Gene

This gene is overexpressed in Placenta (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MSX2 Gene



SOURCE GeneReport for Unigene cluster for MSX2 Gene Hs.89404

genes like me logo Genes that share expression patterns with MSX2: view

Protein tissue co-expression partners for MSX2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for MSX2 Gene

Orthologs for MSX2 Gene

This gene was present in the common ancestor of animals.

Orthologs for MSX2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MSX2 35
  • 92.76 (n)
  • 96.63 (a)
MSX2 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MSX2 35
  • 90.39 (n)
  • 93.63 (a)
MSX2 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Msx2 35
  • 88.01 (n)
  • 92.51 (a)
Msx2 16
Msx2 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MSX2 35
  • 99.88 (n)
  • 100 (a)
MSX2 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Msx2 35
  • 88.51 (n)
  • 92.51 (a)
oppossum
(Monodelphis domestica)
Mammalia MSX2 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MSX2 36
  • 92 (a)
OneToOne
chicken
(Gallus gallus)
Aves MSX2 35
  • 79.27 (n)
  • 85.04 (a)
MSX2 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MSX2 36
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC394987 35
msx2 35
  • 71.5 (n)
  • 74.51 (a)
African clawed frog
(Xenopus laevis)
Amphibia msx2-A 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
msxd 35
  • 63.46 (n)
  • 63.76 (a)
msxa 36
  • 50 (a)
OneToMany
msxd 36
  • 53 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Dr 37
  • 50 (a)
Dr 36
  • 20 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea vab-15 36
  • 39 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9618 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 28 (a)
OneToMany
Species with no ortholog for MSX2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MSX2 Gene

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

Paralogs for MSX2 Gene

(1) SIMAP similar genes for MSX2 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for MSX2 Gene

genes like me logo Genes that share paralogs with MSX2: view

Variants for MSX2 Gene

Sequence variations from dbSNP and Humsavar for MSX2 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
VAR_003755 Craniosynostosis 2 (CRS2)
VAR_010201 Parietal foramina 1 (PFM1)
VAR_010786 Parietal foramina 1 (PFM1)
rs4242182 - 174,729,165(+) ACATA(A/C/G/T)GAGCC reference, missense
VAR_071634 Craniosynostosis 2 (CRS2)

Variation tolerance for MSX2 Gene

Residual Variation Intolerance Score: 26.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.60; 12.99% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MSX2 Gene

HapMap Linkage Disequilibrium report
MSX2
Human Gene Mutation Database (HGMD)
MSX2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for MSX2 Gene

Disorders for MSX2 Gene

MalaCards: The human disease database

(25) MalaCards diseases for MSX2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
craniosynostosis, type 2
  • warman mulliken hayward syndrome
parietal foramina 1
  • parietal foramina
parietal foramina with cleidocranial dysplasia
  • parietal foramina with cleidocranial dysostosis
msx2-related craniosynostosis
  • craniosynostosis, type 2
craniosynostosis 5
  • crs5
- elite association - COSMIC cancer census association via MalaCards
Search MSX2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MSX2_HUMAN
  • 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. {ECO:0000269 PubMed:23918290, ECO:0000269 PubMed:23949913, ECO:0000269 PubMed:8106171}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:10742103, ECO:0000269 PubMed:10767351}. 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. {ECO:0000269 PubMed:14571277}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MSX2

Genetic Association Database (GAD)
MSX2
Human Genome Epidemiology (HuGE) Navigator
MSX2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MSX2
genes like me logo Genes that share disorders with MSX2: view

No data available for Genatlas for MSX2 Gene

Publications for MSX2 Gene

  1. Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna. (PMID: 10767351) Wuyts W. … Van Hul W. (Hum. Mol. Genet. 2000) 3 4 23 67
  2. Characterization of a human MSX-2 cDNA and its fragment isolated as a transformation suppressor gene against v-Ki-ras oncogene. (PMID: 8668339) Takahashi C. … Noda M. (Oncogene 1996) 2 3 23
  3. Tumor necrosis factor-alpha increases alkaline phosphatase expression in vascular smooth muscle cells via MSX2 induction. (PMID: 20004646) Lee H.L. … Baek J.H. (Biochem. Biophys. Res. Commun. 2010) 3 23
  4. Notch signaling induces osteogenic differentiation and mineralization of vascular smooth muscle cells: role of Msx2 gene induction via Notch-RBP-Jk signaling. (PMID: 19407244) Shimizu T. … Kurabayashi M. (Arterioscler. Thromb. Vasc. Biol. 2009) 3 23
  5. NK-like homeodomain proteins activate NOTCH3-signaling in leukemic T-cells. (PMID: 19835636) Nagel S. … Macleod R.A. (BMC Cancer 2009) 3 23

Products for MSX2 Gene

Sources for MSX2 Gene

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