Gene: ESRP2

Basic information

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.

Gene expression information

Gene expression in different tissues (GTEx V7)