| Tag | Content |
|---|---|
| Uniprot ID | Q9H6T0; Q8N6H8; Q8WZ15; Q9H6I4; |
| Entrez ID | 80004 |
| Genbank protein ID | AAL55761.1; BAB15275.1; AAH30146.1; BAB15173.1; |
| Genbank nucleotide ID | NM_024939.2 |
| Ensembl protein ID | ENSP00000454554; ENSP00000418748; |
| Ensembl nucleotide ID | ENSG00000103067 |
| Gene name | Epithelial splicing regulatory protein 2 |
| Gene symbol | ESRP2 |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | mRNA splicing factor that regulates the formation of epithelial cell-specific isoforms. Specifically regulates the expression of FGFR2-IIIb, an epithelial cell-specific isoform of FGFR2. Also regulates the splicing of CD44, CTNND1, ENAH, 3 transcripts that undergo changes in splicing during the epithelial-to-mesenchymal transition (EMT). Acts by directly binding specific sequences in mRNAs. Binds the GU-rich sequence motifs in the ISE/ISS-3, a cis-element regulatory region present in the mRNA of FGFR2. |
| Sequence | MTPPPPPPPP PGPDPAADPA ADPCPWPGSL VVLFGATAGA LGRDLGSDET DLILLVWQVV 60 EPRSRQVGTL HKSLVRAEAA ALSTQCREAS GLSADSLARA EPLDKVLQQF SQLVNGDVAL 120 LGGGPYMLCT DGQQLLRQVL HPEASRKNLV LPDMFFSFYD LRREFHMQHP STCPARDLTV 180 ATMAQGLGLE TDATEDDFGV WEVKTMVAVI LHLLKEPSSQ LFSKPEVIKQ KYETGPCSDS 240 TVPCPYSSKA DVVDSETVVR ARGLPWQSSD QDVARFFKGL NVARGGVALC LNAQGRRNGE 300 ALIRFVDSEQ RDLALQRHKH HMGVRYIEVY KATGEEFVKI AGGTSLEVAR FLSREDQVIL 360 RLRGLPFSAG PTDVLGFLGP ECPVTGGTEG LLFVRHPDGR PTGDAFALFA CEELAQAALR 420 RHKGMLGKRY IELFRSTAAE VQQVLNRYAS GPLLPTLTAP LLPIPFPLAP GTGRDCVRLR 480 GLPYTATIED ILSFLGEAAA DIRPHGVHMV LNQQGRPSGD AFIQMTSAER ALAAAQRCHK 540 KVMKERYVEV VPCSTEEMSR VLMGGTLGRS GMSPPPCKLP CLSPPTYTTF QATPTLIPTE 600 TAALYPSSAL LPAARVPAAP TPVAYYPGPA TQLYLNYTAY YPSPPVSPTT VGYLTTPTAA 660 LASAPTSVLS QSGALVRMQG VPYTAGMKDL LSVFQAYQLP ADDYTSLMPV GDPPRTVLQA 720 PKEWVCL 727 |
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.