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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
  • Craniosynostosis, Type 2 2
  • Homeobox Protein MSX-2 3
  • Msh Homeobox Homolog 2 3
  • Parietal Foramina 1 2
  • Msh Homeo Box 2 3
  • 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 HTLV-I infection and Neural Crest Differentiation. 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 MSX1.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MSX2 Gene

Genomics for MSX2 Gene

Regulatory Elements for MSX2 Gene

Enhancers for MSX2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G174615 1 ENCODE 10.8 -107.0 -107018 4.1 PKNOX1 ARID4B SIN3A ZNF48 ZNF2 YY1 SLC30A9 ZNF143 DEK ZNF263 MSX2 LOC105377740 HIGD1AP3
GH05G174460 1.1 ENCODE 9.7 -263.3 -263347 0.8 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF766 MSX2 LOC724105 LINC01411
GH05G174608 1 Ensembl ENCODE 10.4 -115.5 -115469 1.1 PKNOX1 KLF1 ZIC2 GLIS2 ZNF316 PATZ1 SCRT2 PRDM10 MAFK TCF7L2 MSX2 GC05M174590 SUMO2P6
GH05G174717 1.2 FANTOM5 ENCODE 7.9 -4.5 -4520 4.5 KLF17 BMI1 RAD21 ELK1 FOS RCOR1 ZNF263 ZEB2 KDM1A ZBTB33 MSX2 LOC105377741 HIGD1AP3
GH05G174458 0.9 ENCODE 10.5 -265.0 -264958 1.7 HDAC1 ATF1 PKNOX1 ARNT RB1 TBL1XR1 RAD21 CHAMP1 ZNF335 ZNF766 MSX2 LOC724105 LINC01411
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MSX2 on UCSC Golden Path with GeneCards custom track

Promoters for MSX2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000191089 267 1601 ZNF76 SIN3A FEZF1 GLI4 RAD21 ZBTB40 RFX5 ZNF366 ZNF362 ELF1

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

Post-translational modifications for MSX2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MSX2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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 :
  • Belongs to the Msh homeobox family.
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:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA --
GO:0000989 transcription factor activity, transcription factor binding IEA --
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding IEA --
GO:0003677 DNA binding IEA --
GO:0003712 transcription cofactor activity ISS,IEA --
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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MSX2 gene
Compartment Confidence
nucleus 5
cytosol 4
extracellular 2
plasma membrane 1
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for MSX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005829 cytosol IDA --
GO:0016607 nuclear speck IDA --
genes like me logo Genes that share ontologies with MSX2: view

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

(2) Drugs for MSX2 Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
a-MSH, amide Pharma Melanocyte-stimulating hormones 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for MSX2 Gene

Compound Action Cas Number
a-MSH, amide Melanocyte-stimulating hormones
genes like me logo Genes that share compounds with MSX2: view

Transcripts for MSX2 Gene

mRNA/cDNA for MSX2 Gene

Unigene Clusters for MSX2 Gene

Msh homeobox 2:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for MSX2 Gene



Protein tissue co-expression partners for MSX2 Gene

NURSA nuclear receptor signaling pathways regulating expression of MSX2 Gene:

MSX2

SOURCE GeneReport for Unigene cluster for MSX2 Gene:

Hs.89404

Evidence on tissue expression from TISSUES for MSX2 Gene

  • Bone(4.5)
  • Bone marrow(4.2)
  • Pancreas(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MSX2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • scalp
  • skull
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with MSX2: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia MSX2 34 35
  • 99.88 (n)
cow
(Bos Taurus)
Mammalia MSX2 34 35
  • 92.76 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MSX2 35
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MSX2 34 35
  • 90.39 (n)
rat
(Rattus norvegicus)
Mammalia Msx2 34
  • 88.51 (n)
mouse
(Mus musculus)
Mammalia Msx2 34 16 35
  • 88.01 (n)
oppossum
(Monodelphis domestica)
Mammalia MSX2 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves MSX2 34 35
  • 79.27 (n)
lizard
(Anolis carolinensis)
Reptilia MSX2 35
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia msx2 34
  • 71.5 (n)
LOC394987 34
African clawed frog
(Xenopus laevis)
Amphibia msx2-A 34
zebrafish
(Danio rerio)
Actinopterygii msxd 34 35
  • 63.46 (n)
msxa 35
  • 50 (a)
OneToMany
-- 34
fruit fly
(Drosophila melanogaster)
Insecta Dr 36 35
  • 50 (a)
worm
(Caenorhabditis elegans)
Secernentea vab-15 35
  • 39 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 28 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9618 34
Species where no ortholog for MSX2 was found in the sources mined by GeneCards:
  • 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
rs104893895 Pathogenic, Craniosynostosis 2 (CRS2) [MIM:604757] 174,729,222(+) CACGC(A/C/T)CTTTA reference, missense, utr-variant-3-prime
rs104893896 Pathogenic, Parietal foramina 1 (PFM1) [MIM:168500] 174,729,294(+) AGAGC(A/G)TGCAG reference, missense, utr-variant-3-prime
VAR_010786 Parietal foramina 1 (PFM1) [MIM:168500]
VAR_071634 Craniosynostosis 2 (CRS2) [MIM:604757]
rs121912972 Pathogenic 174,725,004(+) GCGTG(-/G)ATGCA reference, frameshift-variant

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

Human Gene Mutation Database (HGMD)
MSX2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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

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

Disorder Aliases PubMed IDs
craniosynostosis, type 2
  • craniosynostosis 2
parietal foramina 1
  • parietal foramina
parietal foramina with cleidocranial dysplasia
  • parietal foramina with cleidocranial dysostosis
msx2-related craniosynostosis
  • craniosynostosis, type 2
craniosynostosis
  • premature closure of cranial sutures
- 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. Association of the MSX2 gene polymorphisms with ankylosing spondylitis in Japanese. (PMID: 18299954) Furuichi T. … Ikegawa S. (J. Hum. Genet. 2008) 3 22 46 64
  2. Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2. (PMID: 14571277) Garcia-Minaur S. … Wilkie A.O.M. (Eur. J. Hum. Genet. 2003) 3 4 22 64
  3. Regulation of osteocalcin gene expression by a novel Ku antigen transcription factor complex. (PMID: 12145306) Willis D.M. … Towler D.A. (J. Biol. Chem. 2002) 3 4 22 64
  4. Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification. (PMID: 10742103) Wilkie A.O.M. … Maxson R.E. Jr. (Nat. Genet. 2000) 3 4 22 64
  5. 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 22 64

Products for MSX2 Gene

Sources for MSX2 Gene

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