Gene
esrp2
- ID
- ZDB-GENE-030131-9824
- Name
- epithelial splicing regulatory protein 2
- Symbol
- esrp2 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to enable mRNA binding activity. Acts upstream of or within cranial skeletal system development and hard palate morphogenesis. Predicted to be located in nucleus. Predicted to be part of ribonucleoprotein complex. Predicted to be active in nucleoplasm. Is expressed in several structures, including EVL; anterior axial hypoblast; digestive system; neurogenic placode; and pleuroperitoneal region. Orthologous to human ESRP2 (epithelial splicing regulatory protein 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb404 (12 images)
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Burguera et al., 2017
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
crg2 | Allele with one deletion | Exon 3 | Frameshift, Premature Stop | CRISPR | |
fb402 | Allele with one deletion | Exon 1 | Unknown | CRISPR | |
sa7075 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa18119 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa18517 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa21001 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa38624 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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Targeting Reagent | Created Alleles | Citations |
---|---|---|
CRISPR1-esrp2 | Burguera et al., 2017 | |
CRISPR2-esrp2 | (2) | |
CRISPR3-esrp2 | (2) | |
MO1-esrp2 | N/A | (2) |
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Human Disease
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR000504 | RNA recognition motif domain |
Family | IPR050666 | Epithelial Splicing Regulatory |
Homologous_superfamily | IPR012337 | Ribonuclease H-like superfamily |
Homologous_superfamily | IPR012677 | Nucleotide-binding alpha-beta plait domain superfamily |
Homologous_superfamily | IPR035979 | RNA-binding domain superfamily |
1 - 5 of 6 Show all
Domain Details Per Protein
Protein | Additional Resources | Length | Epithelial Splicing Regulatory | Nucleotide-binding alpha-beta plait domain superfamily | Ribonuclease H-like superfamily | Ribonuclease H superfamily | RNA-binding domain superfamily | RNA recognition motif domain |
---|---|---|---|---|---|---|---|---|
UniProtKB:A0A8M9QH61 | InterPro | 576 | ||||||
UniProtKB:A0A8M2BGB5 | InterPro | 735 | ||||||
UniProtKB:Q7ZVR8 | InterPro | 736 | ||||||
UniProtKB:G1K2P5 | InterPro | 711 | ||||||
UniProtKB:A0A8M6Z7Q3 | InterPro | 687 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Contained in | BAC | DKEY-148A17 | ZFIN Curated Data | |
Contains | SSLP | z1182 | ||
Encodes | EST | cb404 | Thisse et al., 2001 | |
Encodes | EST | fa07a06 | ||
Encodes | cDNA | MGC:55721 | ZFIN Curated Data | |
Encodes | cDNA | MGC:77254 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_199272 (1) | 3383 nt | ||
Genomic | GenBank:BX957359 (1) | 180396 nt | ||
Polypeptide | UniProtKB:Q7ZVR8 (1) | 736 aa |
- Caetano da Silva, C., Macias Trevino, C., Mitchell, J., Murali, H., Tsimbal, C., Dalessandro, E., Carroll, S.H., Kochhar, S., Curtis, S.W., Cheng, C.H.E., Wang, F., Kutschera, E., Carstens, R.P., Xing, Y., Wang, K., Leslie, E.J., Liao, E.C. (2024) Functional analysis of ESRP1/2 gene variants and CTNND1 isoforms in orofacial cleft pathogenesis. Communications biology. 7:10401040
- Carroll, S.H., Macias Trevino, C., Li, E.B., Kawasaki, K., Myers, N., Hallett, S.A., Alhazmi, N., Cotney, J., Carstens, R.P., Liao, E.C. (2020) An Irf6-Esrp1/2 regulatory axis controls midface morphogenesis in vertebrates. Development (Cambridge, England). 147(24):
- Burguera, D., Marquez, Y., Racioppi, C., Permanyer, J., Torres-Méndez, A., Esposito, R., Albuixech-Crespo, B., Fanlo, L., D'Agostino, Y., Gohr, A., Navas-Perez, E., Riesgo, A., Cuomo, C., Benvenuto, G., Christiaen, L.A., Martí, E., D'Aniello, S., Spagnuolo, A., Ristoratore, F., Arnone, M.I., Garcia-Fernàndez, J., Irimia, M. (2017) Evolutionary recruitment of flexible Esrp-dependent splicing programs into diverse embryonic morphogenetic processes. Nature communications. 8:1799
- Despic, V., Dejung, M., Gu, M., Krishnan, J., Zhang, J., Herzel, L., Straube, K., Gerstein, M.B., Butter, F., Neugebauer, K.M. (2017) Dynamic RNA-protein interactions underlie the zebrafish maternal-to-zygotic transition. Genome research. 27(7):1184-1194
- Zhang, Y., O'Leary, M.N., Peri, S., Wang, M., Zha, J., Melov, S., Kappes, D.J., Feng, Q., Rhodes, J., Amieux, P.S., Morris, D.R., Kennedy, B.K., Wiest, D.L. (2017) Ribosomal Proteins Rpl22 and Rpl22l1 Control Morphogenesis by Regulating Pre-mRNA Splicing. Cell Reports. 18:545-556
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Orosz, F. (2015) On the tubulin polymerization promoting proteins of zebrafish. Biochemical and Biophysical Research Communications. 457(3):267-72
- Woods, I.G., Wilson, C., Friedlander, B., Chang, P., Reyes, D.K., Nix, R., Kelly, P.D., Chu, F., Postlethwait, J.H., and Talbot, W.S. (2005) The zebrafish gene map defines ancestral vertebrate chromosomes. Genome research. 15(9):1307-1314
- Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J., and Marra,M.A. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99(26):16899-903
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