InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MSX2

Summary

InnateDB Protein

IDBP-58314.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MSX2

Protein Name

msh homeobox 2

Synonyms

CRS2; FPP; HOX8; MSH; PFM; PFM1;

Species

Homo sapiens

Ensembl Protein

ENSP00000239243

InnateDB Gene

IDBG-58312 (MSX2)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:12145306}.

Subcellular Localization

Nucleus.

Disease Associations

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

Tissue Specificity

Comments

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