| Tag | Content |
|---|---|
| Uniprot ID | P70390; P70369; |
| Entrez ID | 20429 |
| Genbank protein ID | AAC52833.1; AAC52834.1; AAC52831.1; AAC52832.1; |
| Genbank nucleotide ID | NM_001302358.1; NM_013665.1; NM_001302357.1; NM_001302359.1; |
| Ensembl protein ID | ENSMUSP00000029422 |
| Ensembl nucleotide ID | ENSMUSG00000027833 |
| Gene name | Short stature homeobox protein 2 |
| Gene symbol | Shox2 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | E12.5, E13.5, E14.0 |
| Data sources | Manually collected |
| Reference | 16141225; 18393307; |
| Functional description | May be a growth regulator and have a role in specifying neural systems involved in processing somatosensory information, as well as in face and body structure formation. May also have a role in heart development. |
| Sequence | MEELTAFVSK SFDQKVKEKK EAITYREVLE SGPLRGAKEP GCVEPGRDDR SSPAVRAAGG 60 GGGAGGGGGG GGGGGGGAGG GGAGGGAGGG RSPVRELDMG AAERSREPGS PRLTEVSPEL 120 KDRKDDAKGM EDEGQTKIKQ RRSRTNFTLE QLNELERLFD ETHYPDAFMR EELSQRLGLS 180 EARVQVWFQN RRAKCRKQEN QLHKGVLIGA ASQFEACRVA PYVNVGALRM PFQQDSHCNV 240 TPLSFQVQAQ LQLDSAVAHA HHHLHPHLAA HAPYMMFPAP PFGLPLATLA ADSASAASVV 300 AAAAAAKTTS KNSSIADLRL KAKKHAAALG L 331 |
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.
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0043565 | sequence-specific DNA binding | IEA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0001649 | osteoblast differentiation | IMP |
| GO:0002053 | positive regulation of mesenchymal cell proliferation | IMP |
| GO:0002062 | chondrocyte differentiation | IMP |
| GO:0002063 | chondrocyte development | IMP |
| GO:0003170 | heart valve development | IMP |
| GO:0003209 | cardiac atrium morphogenesis | IMP |
| GO:0006355 | regulation of transcription, DNA-templated | IEA |
| GO:0030326 | embryonic limb morphogenesis | IMP |
| GO:0032330 | regulation of chondrocyte differentiation | IMP |
| GO:0035115 | embryonic forelimb morphogenesis | IMP |
| GO:0045880 | positive regulation of smoothened signaling pathway | IMP |
| GO:0048557 | embryonic digestive tract morphogenesis | IMP |
| GO:0048598 | embryonic morphogenesis | IMP |
| GO:0048743 | positive regulation of skeletal muscle fiber development | IMP |
| GO:0050772 | positive regulation of axonogenesis | IMP |
| GO:0060272 | embryonic skeletal joint morphogenesis | IMP |
| GO:0060351 | cartilage development involved in endochondral bone morphogenesis | IMP |
| GO:0060415 | muscle tissue morphogenesis | IMP |
| GO:2000172 | regulation of branching morphogenesis of a nerve | IMP |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005634 | nucleus | IEA |
| Reactome ID | Reactome Term | Evidence |
|---|