| Tag | Content |
|---|---|
| Uniprot ID | Q2VWA4 |
| Entrez ID | 652991 |
| Genbank protein ID | AAV74189.1 |
| Genbank nucleotide ID | NM_001037802.1 |
| Ensembl protein ID | ENSP00000383255 |
| Ensembl nucleotide ID | ENSG00000215474 |
| Gene name | SKI family transcriptional corepressor 2 |
| Gene symbol | SKOR2 |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | Exhibits transcriptional repressor activity (By similarity). Acts as a TGF-beta antagonist in the nervous system. |
| Sequence | MASSPLPGPN DILLASPSSA FQPDTLSQPR PGHANLKPNQ VGQVILYGIP IVSLVIDGQE 60 RLCLAQISNT LLKNFSYNEI HNRRVALGIT CVQCTPVQLE ILRRAGAMPI SSRRCGMITK 120 REAERLCKSF LGENRPPKLP DNFAFDVSHE CAWGCRGSFI PARYNSSRAK CIKCSYCNMY 180 FSPNKFIFHS HRTPDAKYTQ PDAANFNSWR RHLKLTDKSP QDELVFAWED VKAMFNGGSR 240 KRALPQPGAH PACHPLSSVK AAAVAAAAAV AGGGGLLGPH LLGAPPPPPP PPPPLAELAG 300 APHAHHKRPR FDDDDDSLQE AAVVAAASLS AAAASLSVAA ASGGAGTGGG GAGGGCVAGV 360 GVGAGAGAGA GAGAKGPRSY PVIPVPSKGS FGGVLQKFPG CGGLFPHPYT FPAAAAAFSL 420 CHKKEDAGAA AEALGGAGAG GAGAAPKAGL SGLFWPAGRK DAFYPPFCMF WPPRTPGGLP 480 VPTYLQPPPQ PPSALGCALG ESPALLRQAF LDLAEPGGAA GSAEAAPPPG QPPQVVANGP 540 GSGPPPPAGG AGSRDALFES PPGGSGGDCS AGSTPPADSV AAAGAGAAAA GSGPAGSRVP 600 APHHPHLLEG RKAGGGSYHH SSAFRPVGGK DDAESLAKLH GASAGAPHSA QTHPHHHHHP 660 HHHHHHHHPP QPPSPLLLLP PQPDEPGSER HHPAPPPPPP PPPPPPLAQH PHHRGLLSPG 720 GTSCCYPSED SSEDEDDEEE EQEVDVEGHK PPEGEEEEEG RDPDDDEEED EETEVLLGDP 780 LVGGGRFLQG RGPSEKGSSR DRAPAVAGAF PLGLNSSRLL QEDGKLGDPG SDLPPPPPPP 840 LAPQKASGGG SSSPGSPVHH PSLEEQPSYK DSQKTKENNQ VIVSTKDDNS FSDKNKEHSF 900 FITDSDASGG DFWRERSGEH TQETNSPHSL KKDVENMGKE ELQKVLFEQI DLRRRLEQEF 960 QVLKGNTSFP VFNNFQDQMK RELAYREEMV QQLQIVSCIS T 1001 |
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 | SKOR2 | A0A452E942 | Capra hircus | Prediction | More>> | |||
| 1:1 ortholog | SKOR2 | 652991 | Q2VWA4 | Homo sapiens | Prediction | More>> | ||
| 1:1 ortholog | Skor2 | 664805 | A7M7C7 | CPO | Mus musculus | Publication | More>> | |
| 1:1 ortholog | SKOR2 | A0A2I3S940 | Pan troglodytes | Prediction | More>> | |||
| 1:1 ortholog | Skor2 | D3ZAH4 | Rattus norvegicus | Prediction | More>> |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM |
| GO:0003714 | transcription corepressor activity | ISS |
| GO:0003714 | transcription corepressor activity | IBA |
| GO:0046332 | SMAD binding | IPI |
| GO:0046332 | SMAD binding | IBA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IBA |
| GO:0006355 | regulation of transcription, DNA-templated | NAS |
| GO:0030512 | negative regulation of transforming growth factor beta receptor signaling pathway | IDA |
| GO:0030514 | negative regulation of BMP signaling pathway | IBA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005634 | nucleus | IDA |
| GO:0005634 | nucleus | IBA |
| GO:0005667 | transcription factor complex | IBA |
| GO:0005737 | cytoplasm | IDA |
| Reactome ID | Reactome Term | Evidence |
|---|