Msh homeobox 2

This article is about the gene. For the console, see MSX2. For the drug, see MSX-2.

Homeobox protein MSX-2 is a protein that in humans is encoded by the MSX2 gene.^[4][5][6]

MSX2
Identifiers
Aliases	MSX2, CRS2, FPP, HOX8, MSH, PFM, PFM1, Msh homeobox 2
External IDs	OMIM: 123101; MGI: 97169; HomoloGene: 1837; GeneCards: MSX2; OMA:MSX2 - orthologs
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5q35.2 Start 174,724,582 bp[1] End 174,730,896 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in placenta secondary oocyte testicle lactiferous duct urinary bladder tibial arteries gonad mucosa of urinary bladder skin of abdomen muscle of thigh n/a More reference expression data BioGPS More reference expression data
Gene ontology Molecular function sequence-specific DNA binding DNA binding transcription coregulator activity DNA-binding transcription repressor activity, RNA polymerase II-specific RNA polymerase II transcription regulatory region sequence-specific DNA binding protein binding transcription factor binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus cytosol nuclear speck Biological process negative regulation of cell population proliferation positive regulation of timing of catagen negative regulation of keratinocyte differentiation negative regulation of transcription regulatory region DNA binding embryonic limb morphogenesis frontal suture morphogenesis mammary gland epithelium development BMP signaling pathway involved in heart development enamel mineralization ossification anterior/posterior pattern specification bone morphogenesis regulation of transcription, DNA-templated cellular response to growth factor stimulus activation of meiosis endochondral bone growth wound healing, spreading of epidermal cells BMP signaling pathway embryonic digit morphogenesis positive regulation of mesenchymal cell apoptotic process multicellular organism development embryonic hindlimb morphogenesis negative regulation of CREB transcription factor activity outflow tract morphogenesis bone trabecula formation wound healing regulation of apoptotic process chondrocyte development osteoblast development positive regulation of osteoblast differentiation cranial suture morphogenesis negative regulation of fat cell differentiation branching involved in mammary gland duct morphogenesis outflow tract septum morphogenesis negative regulation of transcription, DNA-templated osteoblast differentiation epithelial to mesenchymal transition involved in endocardial cushion formation positive regulation of BMP signaling pathway signal transduction involved in regulation of gene expression cellular response to estradiol stimulus embryonic forelimb morphogenesis embryonic nail plate morphogenesis negative regulation of apoptotic process cartilage development stem cell differentiation odontogenesis transcription, DNA-templated negative regulation of transcription by RNA polymerase II embryonic morphogenesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4488 17702 Ensembl ENSG00000120149 n/a UniProt P35548 Q03358 RefSeq (mRNA) NM_002449 NM_001363626 NM_013601 RefSeq (protein) NP_002440 NP_001350555 NP_038629 Location (UCSC) Chr 5: 174.72 – 174.73 Mb n/a PubMed search [2] [3]
Wikidata
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Function

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.^[6] Msx2 is a homeobox gene localized on human chromosome 5 that encodes a transcription repressor and activator (MSX-2) responsible for craniofacial and limb-bud development. Cells will express msx2 when exposed to signaling molecules BMP-2 and BMP-4 in situ.^[7] It is well documented that expression of cell-cell adhesion molecules such as E-cadherins will promote structural integrity and an epithelial arrangement of cells, while expression of N-cadherin and vimentin promote mesenchymal arrangement and cell migration.^[8][9] Msx2 downregulates E-cadherins and upregulates N-cadherin and vimentin which indicates its role in inducing epithelial mesenchymal transition (EMT). Germline knockout mice have been created for this gene (Msx2 +/-) in order to examine functional loss.^[10] Clinical studies on craniosynostosis, or the premature fusion of cranial structures, have shown the condition to be genetically linked to mutation in the msx2 homeobox gene.^[11]

Interactions

Msh homeobox 2 has been shown to interact with DLX5,^[12] DLX2^[12] and MSX1.^[12]