Version 5.4
Homo sapiens Gene: MSX2
Summary
InnateDB Gene IDBG-58312.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MSX2
Gene Name msh homeobox 2
Synonyms CRS2; FPP; HOX8; MSH; PFM; PFM1
Species Homo sapiens
Ensembl Gene ENSG00000120149
Encoded Proteins
IDBP-58314
msh homeobox 2
IDBP-480766
msh homeobox 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 5:174724533-174730893
Strand Forward strand
Band q35.2
Transcripts
ENST00000239243 ENSP00000239243
ENST00000507785 ENSP00000427425
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 23 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.
Experimentally validated
Total 23 [view]
Protein-Protein 20 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 7 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000982 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity
GO:0000989 transcription factor binding transcription factor activity
GO:0001227 RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
GO:0003677 DNA binding
GO:0003712 transcription cofactor activity
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0043565 sequence-specific DNA binding
GO:0044212 transcription regulatory region DNA binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001503 ossification
GO:0001649 osteoblast differentiation
GO:0002063 chondrocyte development
GO:0002076 osteoblast development
GO:0003148 outflow tract septum morphogenesis
GO:0003151 outflow tract morphogenesis
GO:0003198 epithelial to mesenchymal transition involved in endocardial cushion formation
GO:0003416 endochondral bone growth
GO:0006366 transcription from RNA polymerase II promoter
GO:0008285 negative regulation of cell proliferation
GO:0009952 anterior/posterior pattern specification
GO:0023019 signal transduction involved in regulation of gene expression
GO:0030326 embryonic limb morphogenesis
GO:0030509 BMP signaling pathway
GO:0030513 positive regulation of BMP signaling pathway
GO:0032792 negative regulation of CREB transcription factor activity
GO:0035115 embryonic forelimb morphogenesis
GO:0035116 embryonic hindlimb morphogenesis
GO:0035313 wound healing, spreading of epidermal cells
GO:0035880 embryonic nail plate morphogenesis
GO:0042060 wound healing
GO:0042476 odontogenesis
GO:0042640 anagen
GO:0042733 embryonic digit morphogenesis
GO:0042981 regulation of apoptotic process
GO:0043065 positive regulation of apoptotic process
GO:0043066 negative regulation of apoptotic process
GO:0045599 negative regulation of fat cell differentiation
GO:0045617 negative regulation of keratinocyte differentiation
GO:0045669 positive regulation of osteoblast differentiation
GO:0045892 negative regulation of transcription, DNA-templated
GO:0048863 stem cell differentiation
GO:0051216 cartilage development
GO:0051795 positive regulation of catagen
GO:0060346 bone trabecula formation
GO:0060349 bone morphogenesis
GO:0060363 cranial suture morphogenesis
GO:0060364 frontal suture morphogenesis
GO:0060444 branching involved in mammary gland duct morphogenesis
GO:0061180 mammary gland epithelium development
GO:0061312 BMP signaling pathway involved in heart development
GO:0070166 enamel mineralization
GO:0071363 cellular response to growth factor stimulus
GO:0071392 cellular response to estradiol stimulus
GO:0090427 activation of meiosis
GO:2000678 negative regulation of transcription regulatory region DNA binding
GO:2001055 positive regulation of mesenchymal cell apoptotic process
Cellular Component
GO:0005634 nucleus
GO:0005667 transcription factor complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000021469
View Gene Order
ENSBTAG00000013873
Not yet available
Cross-References
SwissProt P35548
TrEMBL D6RIS4
UniProt Splice Variant
Entrez Gene 4488
UniGene Hs.615209 Hs.89404
RefSeq NM_002449 XM_006714868
HUGO HGNC:7392
OMIM 123101
CCDS CCDS4392
HPRD
IMGT
EMBL AC117531 BC015509 BT009814 CH471062 D14970 D31771 D89377 L22498 L22499 S75308 S75361 X69295
GenPept AAB33867 AAB42178 AAD14169 AAH15509 AAP88816 BAA03611 BAA06549 BAA13949 CAA49156 EAW61381 EAW61382
RNA Seq Atlas 4488

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca