Gene: Esrp2

Basic information

Tag Content
Uniprot ID Q8K0G8; Q8CEK2;
Entrez ID 77411
Genbank protein ID AAH31444.1; BAC25635.1;
Genbank nucleotide ID NM_176838.2
Ensembl protein ID ENSMUSP00000111639
Ensembl nucleotide ID ENSMUSG00000084128
Gene name Epithelial splicing regulatory protein 2
Gene symbol Esrp2
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CLP
Developmental stage
Data sources Manually collected
Reference 26371508
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 (By similarity).
Sequence
MTPPPPPPPP PGPDPAVDSA TDPCPEPQSL VVLFGATAGA LGPDLGSDET DLILLVWQVV 60
EPRSRQVGTL HKSLVRAEAA ALSPQCREAS GLSADSLARA ESLDKVLQQF SQLVSGDVAL 120
LGGGPYVLCT DGQQLLRQVL HPEASRKNLV LPDTFFSFYD LRREFHMQHP STCSARDLTV 180
GTMAQDLGLE TDATEDDFGV WEVKTMVAVI LHLLEGSNGQ LFSKPEVVKQ KYETGPCSKA 240
DVVDNETVVR ARGLPWQSSD QDVARFFKGL NIARGGVALC LNAQGRRNGE ALIRFVDSEQ 300
RDLALQRHKH HMGVRYIEVY KATGEEFVKI AGGTSLEVAR FLSREDQVIL RLRGLPFSAG 360
PTDVLGFLGP ECPVTGGADG LLFVRHPDGR PTGDAFALFA CEELAQAALR RHKGMLGKRY 420
IELFRSTAAE VQQVLNRYAA SPLLPTLTAP LLPIPFPLAG GTGRDCVRLR GLPYTATIED 480
ILSFLGEAAA DIRPHGVHMV LNQQGRPSGD AFIQMMSVER ALAAAQRCHK KMMKERYVEV 540
VPCSTEEMSR VLMGGSLSRS GLSPPPCKLP CLSPPTYATF QATPALIPTE TTALYPSSAL 600
LPAARVPAAA TPLAYYPGPA TQLYMNYTAY YPSPPVSPTT VGYLTTPPTA LASTPTTMLS 660
QPGALVRMQG VPYTAGMKDL LSVFQAYQLA PDDYTTLMPV GDPPRTVLQA PKEWVCL 717

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.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologESRP2489745F1PA85Canis lupus familiarisPredictionMore>>
1:1 orthologESRP2102181230A0A452FYS9Capra hircusPredictionMore>>
1:1 orthologESRP280004Q9H6T0Homo sapiensPredictionMore>>
1:1 orthologEsrp277411Q8K0G8CLPMus musculusPublicationMore>>
1:1 orthologESRP2A0A2I3SHP8Pan troglodytesPredictionMore>>
1:1 orthologESRP2100355035G1SF15Oryctolagus cuniculusPredictionMore>>
1:1 orthologEsrp2307810G3V8M2Rattus norvegicusPredictionMore>>

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0003729 mRNA bindingISS
GO:0003729 mRNA bindingISO

GO:Biological Process

GO ID GO Term Evidence
GO:0000380 alternative mRNA splicing, via spliceosomeIGI
GO:0043484 regulation of RNA splicingISS
GO:0043484 regulation of RNA splicingISO
GO:0050679 positive regulation of epithelial cell proliferationIGI
GO:0060441 epithelial tube branching involved in lung morphogenesisIGI
GO:0060445 branching involved in salivary gland morphogenesisIGI

GO:Cellular Component

GO ID GO Term Evidence
GO:0005634 nucleusISS
GO:0005634 nucleusISO
GO:0005654 nucleoplasmISO

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-162582 Signal TransductionIEA
R-MMU-190236 Signaling by FGFRIEA
R-MMU-5654738 Signaling by FGFR2IEA
R-MMU-6803529 FGFR2 alternative splicingIEA
R-MMU-9006934 Signaling by Receptor Tyrosine KinasesIEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0507 mRNA processing
KW-0508 mRNA splicing
KW-0539 Nucleus
KW-0597 Phosphoprotein
KW-1185 Reference proteome
KW-0677 Repeat
KW-0694 RNA-binding

Interpro

InterPro ID InterPro Term
IPR034431 ESRP2
IPR012677 Nucleotide-bd_a/b_plait_sf
IPR035979 RBD_domain_sf
IPR012337 RNaseH-like_sf
IPR036397 RNaseH_sf
IPR000504 RRM_dom

PROSITE

PROSITE ID PROSITE Term

Pfam

Pfam ID Pfam Term