| Tag | Content |
|---|---|
| Uniprot ID | P35548; D3DQN1; Q53XM4; Q9UD60; |
| Entrez ID | 4488 |
| Genbank protein ID | AAH15509.1; CAA49156.1; BAA03611.1; AAB42178.1; AAP88816.1; EAW61382.1; AAB33867.1; BAA13949.1; BAA06549.1; EAW61381.1; AAD14169.1; |
| Genbank nucleotide ID | NM_002449.4 |
| Ensembl protein ID | ENSP00000239243 |
| Ensembl nucleotide ID | ENSG00000120149 |
| Gene name | Homeobox protein MSX-2 |
| Gene symbol | MSX2 |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 26602496 |
| 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. |
| Sequence | MASPSKGNDL FSPDEEGPAV VAGPGPGPGG AEGAAEERRV KVSSLPFSVE ALMSDKKPPK 60 EASPLPAESA SAGATLRPLL LSGHGAREAH SPGPLVKPFE TASVKSENSE DGAAWMQEPG 120 RYSPPPRHMS PTTCTLRKHK TNRKPRTPFT TSQLLALERK FRQKQYLSIA ERAEFSSSLN 180 LTETQVKIWF QNRRAKAKRL QEAELEKLKM AAKPMLPSSF SLPFPISSPL 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.