CleftGeneDB-Search

Gene: MSX2

Basic information

Tag	Content
Uniprot ID	Q9GK08
Entrez ID	403663
Genbank protein ID	CAC19897.1; CAC37368.1;
Genbank nucleotide ID	NM_001003098.2
Ensembl protein ID	ENSCAFP00000041488; ENSCAFP00030003362; ENSCAFP00040030240;
Ensembl nucleotide ID	ENSCAFG00040018772; ENSCAFG00000016731; ENSCAFG00030002082;
Gene name	Homeobox protein MSX-2
Gene symbol	MSX2
Organism	Canis lupus familiaris
NCBI taxa ID	9615
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Acts as a transcriptional regulator in bone development. Represses the ALPL promoter activity and antagonizes 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 (By similarity).
Sequence	MASPSKGSDL FSSDEEGPAA LAGPGPGPGG AEGAAEERRV KVSSLPFSVE ALMSDKKPPK 60 GASPRPADSA SAGAALRPLL LPGHGAREAP SPGPPGKPFE AASVKSESAE DGAAWMQEPG 120 RYSPPPRHMS PTTCTLRKHK TNRKPRTPFT TSQLLALERK FRQKQYLSIA ERAEFSSSLN 180 LTETQVKIWF QNRRAKAKRL QEAELEKLKM AAKPMLPSGF SLPFPINSPL QAASIYGASY 240 PFHRPVLPIP PVGLYATPVG YGMYHLS 267

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein disorder information

Orthologous information

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Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	MSX2	4488	P35548		Homo sapiens	Publication	More>>
1:1 ortholog	Msx2	17702	Q03358	CPO	Mus musculus	Publication	More>>
1:1 ortholog	MSX2	540230	Q0P5C3		Bos taurus	Prediction	More>>
1:1 ortholog	MSX2	403663	Q9GK08		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	MSX2	102169797	A0A452FSV2		Capra hircus	Prediction	More>>
1:1 ortholog	MSX2	744194	K7D1L0		Pan troglodytes	Prediction	More>>
1:1 ortholog	MSX2		A0A287BCF4		Sus scrofa	Prediction	More>>
1:1 ortholog	MSX2	100343959	G1SWN5		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Msx2	25483	G3V8D1		Rattus norvegicus	Prediction	More>>
1:1 ortholog	msx2a		A0A0J9YJ71		Danio rerio	Prediction	More>>

Showing 1 to 10 of 10 entries

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Gene ontology

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GO ID	GO Term
GO:0000122	negative regulation of transcription by RNA polymerase II
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific
GO:0001649	osteoblast differentiation
GO:0002063	chondrocyte development
GO:0002076	osteoblast development
GO:0003148	outflow tract septum morphogenesis
GO:0003198	epithelial to mesenchymal transition involved in endocardial cushion formation
GO:0003416	endochondral bone growth
GO:0003712	transcription coregulator activity
GO:0005634	nucleus
GO:0005829	cytosol
GO:0008134	transcription factor binding
GO:0008285	negative regulation of cell population proliferation
GO:0009952	anterior/posterior pattern specification
GO:0016607	nuclear speck
GO:0023019	signal transduction involved in regulation of gene expression
GO:0030513	positive regulation of BMP signaling pathway
GO:0032792	negative regulation of CREB transcription factor activity

Showing 1 to 20 of 42 entries

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Functional annotations

Keywords

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Keyword ID	Keyword Term
KW-0217	Developmental protein
KW-0238	DNA-binding
KW-0371	Homeobox
KW-0539	Nucleus
KW-0678	Repressor
KW-0804	Transcription
KW-0805	Transcription regulation
KW-0892	Osteogenesis
KW-1185	Reference proteome