| Tag | Content |
|---|---|
| Uniprot ID | Q03358; Q63856; |
| Entrez ID | 17702 |
| Genbank protein ID | AAA37824.1; AAC60657.2; AAA03477.1; CAA41945.1; |
| Genbank nucleotide ID | NM_013601.2 |
| Ensembl protein ID | ENSMUSP00000021922 |
| Ensembl nucleotide ID | ENSMUSG00000021469 |
| Gene name | Homeobox protein MSX-2 |
| Gene symbol | Msx2 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 9147639; 10742104; |
| 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 | MASPTKGGDL FSSDEEGPAV LAGPGPGPGG AEGSAEERRV KVSSLPFSVE ALMSDKKPPK 60 ESPAVPPDCA SAGAVLRPLL LPGHGVRDAH SPGPLVKPFE TASVKSENSE DGAPWIQEPG 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.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 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 | 4488 | P35548 | Homo sapiens | Publication | More>> | ||
| 1:1 ortholog | Msx2 | 17702 | Q03358 | CPO | Mus musculus | Publication | 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>> |
| Gene symbol | Significant Variants/SNPS | Methods | PubMed ID |
|---|---|---|---|
| MSX2 | rs4868442*A | Genotyping | 26602496 |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IBA |
| GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IMP |
| GO:0000978 | RNA polymerase II cis-regulatory region sequence-specific DNA binding | ISO |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISO |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | IBA |
| GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IDA |
| GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IMP |
| GO:0003677 | DNA binding | IDA |
| GO:0003712 | transcription coregulator activity | IDA |
| GO:0005515 | protein binding | IPI |
| GO:0008134 | transcription factor binding | IDA |
| GO:0008134 | transcription factor binding | IPI |
| GO:0043565 | sequence-specific DNA binding | ISO |
| GO:0044212 | transcription regulatory region DNA binding | IDA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | ISO |
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IGI |
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA |
| GO:0001503 | ossification | IMP |
| GO:0001649 | osteoblast differentiation | IDA |
| GO:0002063 | chondrocyte development | IMP |
| GO:0002076 | osteoblast development | IMP |
| GO:0003148 | outflow tract septum morphogenesis | IGI |
| GO:0003151 | outflow tract morphogenesis | IGI |
| GO:0003198 | epithelial to mesenchymal transition involved in endocardial cushion formation | IGI |
| GO:0003416 | endochondral bone growth | IMP |
| GO:0006366 | transcription by RNA polymerase II | ISO |
| GO:0008285 | negative regulation of cell population proliferation | IGI |
| GO:0009952 | anterior/posterior pattern specification | IGI |
| GO:0010942 | positive regulation of cell death | ISO |
| GO:0023019 | signal transduction involved in regulation of gene expression | IGI |
| GO:0030326 | embryonic limb morphogenesis | IGI |
| GO:0030509 | BMP signaling pathway | IGI |
| GO:0030509 | BMP signaling pathway | IDA |
| GO:0030513 | positive regulation of BMP signaling pathway | IGI |
| GO:0032792 | negative regulation of CREB transcription factor activity | IDA |
| GO:0035115 | embryonic forelimb morphogenesis | IGI |
| GO:0035116 | embryonic hindlimb morphogenesis | IGI |
| GO:0035313 | wound healing, spreading of epidermal cells | IMP |
| GO:0035880 | embryonic nail plate morphogenesis | IGI |
| GO:0042060 | wound healing | IMP |
| GO:0042476 | odontogenesis | IMP |
| GO:0042733 | embryonic digit morphogenesis | IGI |
| GO:0042981 | regulation of apoptotic process | IDA |
| GO:0043065 | positive regulation of apoptotic process | ISO |
| GO:0043066 | negative regulation of apoptotic process | IGI |
| GO:0045599 | negative regulation of fat cell differentiation | IDA |
| GO:0045617 | negative regulation of keratinocyte differentiation | IMP |
| GO:0045669 | positive regulation of osteoblast differentiation | IDA |
| GO:0045892 | negative regulation of transcription, DNA-templated | IDA |
| GO:0048598 | embryonic morphogenesis | IBA |
| GO:0048863 | stem cell differentiation | IGI |
| GO:0051216 | cartilage development | ISO |
| GO:0051216 | cartilage development | IMP |
| GO:0051795 | positive regulation of timing of catagen | IMP |
| GO:0060346 | bone trabecula formation | IMP |
| GO:0060349 | bone morphogenesis | IGI |
| GO:0060364 | frontal suture morphogenesis | IMP |
| GO:0060444 | branching involved in mammary gland duct morphogenesis | IMP |
| GO:0061180 | mammary gland epithelium development | IGI |
| GO:0061312 | BMP signaling pathway involved in heart development | IGI |
| GO:0070166 | enamel mineralization | IMP |
| GO:0071363 | cellular response to growth factor stimulus | IDA |
| GO:0071392 | cellular response to estradiol stimulus | IDA |
| GO:0090427 | activation of meiosis | IPI |
| GO:2000678 | negative regulation of transcription regulatory region DNA binding | IDA |
| GO:2001055 | positive regulation of mesenchymal cell apoptotic process | IGI |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005634 | nucleus | IBA |
| GO:0005654 | nucleoplasm | TAS |
| GO:0005829 | cytosol | ISO |
| GO:0016607 | nuclear speck | ISO |
| Reactome ID | Reactome Term | Evidence |
|---|
| Pfam ID | Pfam Term |
|---|---|
| PF00046 | Homeodomain |