| Tag | Content |
|---|---|
| Uniprot ID | Q0VGT2; E9PYJ4; |
| Entrez ID | 14633 |
| Genbank protein ID | AAH85190.1 |
| Genbank nucleotide ID | NM_001081125.1 |
| Ensembl protein ID | ENSMUSP00000054837 |
| Ensembl nucleotide ID | ENSMUSG00000048402 |
| Gene name | Zinc finger protein GLI2 |
| Gene symbol | Gli2 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | E11.5, E13.0, E14.5 |
| Data sources | Manually collected |
| Reference | 27802276; 9006072; |
| Functional description | Functions as transcription regulator in the hedgehog (Hh) pathway (PubMed:9006072). Functions as transcriptional activator (PubMed:10806483). May also function as transcriptional repressor (PubMed:10433919). Requires STK36 for full transcriptional activator activity (PubMed:10806483). Binds to the DNA sequence 5'-GAACCACCCA-3' which is part of the TRE-2S regulatory element (By similarity). Is involved in the smoothened (SHH) signaling pathway (PubMed:10433919). Required for normal skeleton development (PubMed:9006072). |
| Sequence | METSAPAPAL EKKEAKSGLL EDSSFPDPGK KACPLAVAAA VAAHGVPQQL LPAFHAPLPI 60 DMRHQEGRYH YDPHSVHSVH GPPTLSGSPV ISDISLIRLS PHPAGPGESP FSAHHPYVNP 120 HMEHYLRSVH SSPTLSMISA ARGLSPADVA HEHLKERGLF SLAAPGTNPS DYYHQMTLMA 180 SHPTPYGDLL MQSGGAASAP HLHDYLNPVD ASRFSSPRVT PRLSRKRALS ISPLSDASLD 240 LQRMIRTSPN SLVAYINNSR SSSAASGSYG HLSAGALSPA FTFPHPINPV AYQQILSQQR 300 GLGSAFGHTP PLIQPSPTFL AQQPMTLTSI STMPTQLSSS SSNCLNDANQ NKQNSESAVS 360 STVNPITIHK RSKVKTEAEG LRPASPLGLT QEQLADLKED LDRDDCKQEA EVVIYETNCH 420 WADCTKEYDT QEQLVHHINN EHIHGEKKEF VCRWQACTRE QKPFKAQYML VVHMRRHTGE 480 KPHKCTFEGC SKAYSRLENL KTHLRSHTGE KPYVCEHEGC NKAFSNASDR AKHQNRTHSN 540 EKPYICKIPG CTKRYTDPSS LRKHVKTVHG PDAHVTKKQR NDVHVRAPLL KENGDNEASA 600 EPGGRGPEES VEASSTSHTV EDCLHIKAIK TESSGLCQSS PGAQSSCSSE PSPLGSAPNN 660 DSGMEMPGTG PGSLGDLTAL ADTCPGADTS ALAAPSTGGL QLRKHMSTVH RFEQLKREKL 720 KSLKDSCSWA GPAPHTRNTK LPPLPVNGSV LENFNNTGGG GPAGLLPSQR LPELTEVTML 780 SQLQERRDSS TSTMSSAYTV SRRSSGISPY FSSRRSSEAS PLGGLRPHNA SSADSYDPIS 840 TDASRRSSEA SQCSGGGPGL LNLTPAQQYN LRAKYAAATG GPPPTPLPGL DRVSLRTRLA 900 LLDAPERALP GACPHPLGPR RGSDGPTYSH GHGHGYAGAA PAFPHEGPNS STRRASDPVR 960 RPDPLILPRV QRFHSTHNMN PGSLPPCADR RGLHVQSHPS VDSNLTRNAY SPRPPSINEN 1020 VVMEAVAAGV DGPGLECDLG LVEDELVLPD DVVQYIKAHT GGTLDDGIRQ GYPTEGTGFP 1080 ENSKLPSPGL QGHRRLAAAD SNMGPSAPGL GGCQLSYSPS SNLNKSNMPV QWNEVSSGTV 1140 DALPTQVKPP PFPHSNLAVV QQKPAFGQYP GYNPQSVQSS SGGLDSTQPH LQLRGAPSAS 1200 RGSYTQQPRQ PAAGSQCLGM SAAMSPQASY SQAHPQLSPN IVSGSLNQFS PSCSNMAAKP 1260 SHLGLPQQME VVPNATIMNG HQREHGVPNS SLAAVSQPHP VLSYPQQDSY QQGSNLLSSH 1320 QPGFMESQQN AGFGLMQPRP PLEPNTASRH RGVRSGQQQL YARTTGQAMV TSANQETAEA 1380 MPKGPAGTMV SLAPQPSQDT GRAQDQNTLY YYGQIHMYEQ NGGCPAVQPQ PPQPQACSDS 1440 IQPEPLPSPG VNQVSSTVDS QLLEPPQIDF DAIMDDGDHS SLFSGALSPT LLHNLSQNSS 1500 RLTTPRNSLT LPSIPAGISN MAVGDMSSML TSLAEESKFL NMMT 1544 |
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.
