• Gene id: 4488

Gene Summary

• Gene Symbol: MSX2   Gene   UCSC   Ensembl
• Aliases: CRS2, FPP, HOX8, MSH, PFM, PFM1
• Gene name: msh homeobox 2
• Alternate names: homeobox protein MSX-2, homeobox protein Hox-8, msh homeo box 2, msh homeobox homolog 2,
• Gene location: 5q35.2 (174724581: 174730895)     Exons: 2     NC_000005.10
• Gene summary(Entrez): 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 cranio
• OMIM: 602126

Protein Summary

• Protein general information: P35548  
  • Name: Homeobox protein MSX 2 (Homeobox protein Hox 8)
  • Length: 267  
  • Mass: 28897
• Sequence:

  MASPSKGNDLFSPDEEGPAVVAGPGPGPGGAEGAAEERRVKVSSLPFSVEALMSDKKPPKEASPLPAESASAGAT
  LRPLLLSGHGAREAHSPGPLVKPFETASVKSENSEDGAAWMQEPGRYSPPPRHMSPTTCTLRKHKTNRKPRTPFT
  TSQLLALERKFRQKQYLSIAERAEFSSSLNLTETQVKIWFQNRRAKAKRLQEAELEKLKMAAKPMLPSSFSLPFP
  ISSPLQAASIYGASYPFHRPVLPIPPVGLYATPVGYGMYHLS

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  IPR020479  
  • Prosite: PS00027 PS50071
  • CDD: cd00086
  • STRING: ENSP00000239243
• Other Databases: GeneCards:  MSX2  Malacards:  MSX2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0048598	embryonic morphogenesis	IBA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	ISS	biological process
GO:0000976	transcription regulatory region sequence-specific DNA binding	ISS	molecular function
GO:0001649	osteoblast differentiation	ISS	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0001503	ossification	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0002063	chondrocyte development	IEA	biological process
GO:0001649	osteoblast differentiation	IEA	biological process
GO:0001503	ossification	IEA	biological process
GO:2001055	positive regulation of mesenchymal cell apoptotic process	IEA	biological process
GO:2000678	negative regulation of transcription regulatory region DNA binding	IEA	biological process
GO:0090427	activation of meiosis	IEA	biological process
GO:0071392	cellular response to estradiol stimulus	IEA	biological process
GO:0071363	cellular response to growth factor stimulus	IEA	biological process
GO:0061312	BMP signaling pathway involved in heart development	IEA	biological process
GO:0061180	mammary gland epithelium development	IEA	biological process
GO:0060364	frontal suture morphogenesis	IEA	biological process
GO:0060346	bone trabecula formation	IEA	biological process
GO:0051795	positive regulation of timing of catagen	IEA	biological process
GO:0051216	cartilage development	IEA	biological process
GO:0048863	stem cell differentiation	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0045669	positive regulation of osteoblast differentiation	IEA	biological process
GO:0045617	negative regulation of keratinocyte differentiation	IEA	biological process
GO:0045599	negative regulation of fat cell differentiation	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0042060	wound healing	IEA	biological process
GO:0035880	embryonic nail plate morphogenesis	IEA	biological process
GO:0035313	wound healing, spreading of epidermal cells	IEA	biological process
GO:0032792	negative regulation of CREB transcription factor activity	IEA	biological process
GO:0030513	positive regulation of BMP signaling pathway	IEA	biological process
GO:0030326	embryonic limb morphogenesis	IEA	biological process
GO:0023019	signal transduction involved in regulation of gene expression	IEA	biological process
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0003416	endochondral bone growth	IEA	biological process
GO:0003148	outflow tract septum morphogenesis	IEA	biological process
GO:0002076	osteoblast development	IEA	biological process
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0070166	enamel mineralization	IEA	biological process
GO:0060444	branching involved in mammary gland duct morphogenesis	IEA	biological process
GO:0060349	bone morphogenesis	IEA	biological process
GO:0042981	regulation of apoptotic process	IEA	biological process
GO:0042733	embryonic digit morphogenesis	IEA	biological process
GO:0042476	odontogenesis	IEA	biological process
GO:0035116	embryonic hindlimb morphogenesis	IEA	biological process
GO:0035115	embryonic forelimb morphogenesis	IEA	biological process
GO:0030509	BMP signaling pathway	IEA	biological process
GO:0008134	transcription factor binding	IEA	molecular function
GO:0003712	transcription coregulator activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003198	epithelial to mesenchymal transition involved in endocardial cushion formation	IEA	biological process
GO:0003151	outflow tract morphogenesis	IEA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISS	molecular function
GO:2000678	negative regulation of transcription regulatory region DNA binding	ISS	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS	biological process
GO:0060363	cranial suture morphogenesis	TAS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05166	Human T-cell leukemia virus 1 infection

Diseases

Associated diseases	References
Craniosynostoses	KEGG:H02160
Enlarged parietal foramina/cranium bifidum	KEGG:H00475
Craniosynostoses	KEGG:H02160
Enlarged parietal foramina/cranium bifidum	KEGG:H00475
Craniosynostosis	PMID:8968743
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881