| Tag | Content |
|---|---|
| Uniprot ID | Q14190; O60766; Q15470; Q15471; Q15472; Q15473; Q16532; Q2TBD8; |
| Entrez ID | 6493 |
| Genbank protein ID | CAA59261.1; EAX09737.1; AAB62397.1; BAA11108.1; BAA12919.1; BAA07909.1; AAI10445.1; BAA07906.1; BAA07907.1; BAA07908.1; BAA07910.1; AAB62396.1; BAA21489.1; BAA89433.1; CAA05055.1; BAA21490.1; |
| Genbank nucleotide ID | NM_005069.5; NM_009586.4; |
| Ensembl protein ID | ENSP00000290399 |
| Ensembl nucleotide ID | ENSG00000159263 |
| Gene name | Single-minded homolog 2 |
| Gene symbol | SIM2 |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | Transcription factor that may be a master gene of CNS development in cooperation with Arnt. It may have pleiotropic effects in the tissues expressed during development. |
| Sequence | MKEKSKNAAK TRREKENGEF YELAKLLPLP SAITSQLDKA SIIRLTTSYL KMRAVFPEGL 60 GDAWGQPSRA GPLDGVAKEL GSHLLQTLDG FVFVVASDGK IMYISETASV HLGLSQVELT 120 GNSIYEYIHP SDHDEMTAVL TAHQPLHHHL LQEYEIERSF FLRMKCVLAK RNAGLTCSGY 180 KVIHCSGYLK IRQYMLDMSL YDSCYQIVGL VAVGQSLPPS AITEIKLYSN MFMFRASLDL 240 KLIFLDSRVT EVTGYEPQDL IEKTLYHHVH GCDVFHLRYA HHLLLVKGQV TTKYYRLLSK 300 RGGWVWVQSY ATVVHNSRSS RPHCIVSVNY VLTEIEYKEL QLSLEQVSTA KSQDSWRTAL 360 STSQETRKLV KPKNTKMKTK LRTNPYPPQQ YSSFQMDKLE CGQLGNWRAS PPASAAAPPE 420 LQPHSESSDL LYTPSYSLPF SYHYGHFPLD SHVFSSKKPM LPAKFGQPQG SPCEVARFFL 480 STLPASGECQ WHYANPLVPS SSSPAKNPPE PPANTARHSL VPSYEAPAAA VRRFGEDTAP 540 PSFPSCGHYR EEPALGPAKA ARQAARDGAR LALARAAPEC CAPPTPEAPG APAQLPFVLL 600 NYHRVLARRG PLGGAAPAAS GLACAPGGPE AATGALRLRH PSPAATSPPG APLPHYLGAS 660 VIITNGR 667 |
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.