Gene
spred2a
- ID
- ZDB-GENE-110830-2
- Name
- sprouty related EVH1 domain containing 2a
- Symbol
- spred2a Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to enable protein kinase binding activity. Predicted to be involved in negative regulation of ERK1 and ERK2 cascade. Predicted to act upstream of or within regulation of signal transduction. Predicted to be located in transport vesicle membrane. Predicted to be active in plasma membrane. Human ortholog(s) of this gene implicated in Noonan syndrome. Orthologous to human SPRED2 (sprouty related EVH1 domain containing 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-spred2a | China Zebrafish Resource Center (CZRC) | |
| MO1-spred2a | N/A | Motta et al., 2021 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Noonan syndrome 14 | 619745 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | c-Kit-binding domain | PH-like domain superfamily | SPRE, EVH1 domain | Sprouty | WH1/EVH1 domain |
|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8N7T5I8 | InterPro | 427 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
spred2a-201
(1)
|
Ensembl | 1,245 nt | ||
| mRNA |
spred2a-203
(1)
|
Ensembl | 6,700 nt | ||
| ncRNA |
spred2a-002
(1)
|
Ensembl | 542 nt |
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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 | CH211-212H16 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_681645 (1) | 6702 nt | ||
| Genomic | GenBank:BX547996 (1) | 213398 nt | ||
| Polypeptide | UniProtKB:A0A8N7T5I8 (1) | 427 aa |
- Motta, M., Fasano, G., Gredy, S., Brinkmann, J., Bonnard, A.A., Simsek-Kiper, P.O., Gulec, E.Y., Essaddam, L., Utine, G.E., Guarnetti Prandi, I., Venditti, M., Pantaleoni, F., Radio, F.C., Ciolfi, A., Petrini, S., Consoli, F., Vignal, C., Hepbasli, D., Ullrich, M., de Boer, E., Vissers, L.E.L.M., Gritli, S., Rossi, C., De Luca, A., Ben Becher, S., Gelb, B.D., Dallapiccola, B., Lauri, A., Chillemi, G., Schuh, K., Cavé, H., Zenker, M., Tartaglia, M. (2021) SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype. American journal of human genetics. 108(11):2112-2129
- Anelli, V., Villefranc, J.A., Chhangawala, S., Martinez-McFaline, R., Riva, E., Nguyen, A., Verma, A., Bareja, R., Chen, Z., Scognamiglio, T., Elemento, O., Houvras, Y. (2017) Oncogenic BRAF disrupts thyroid morphogenesis and function via Twist expression. eLIFE. 6
- Braasch, I., Gehrke, A.R., Smith, J.J., Kawasaki, K., Manousaki, T., Pasquier, J., Amores, A., Desvignes, T., Batzel, P., Catchen, J., Berlin, A.M., Campbell, M.S., Barrell, D., Martin, K.J., Mulley, J.F., Ravi, V., Lee, A.P., Nakamura, T., Chalopin, D., Fan, S., Wcisel, D., Cañestro, C., Sydes, J., Beaudry, F.E., Sun, Y., Hertel, J., Beam, M.J., Fasold, M., Ishiyama, M., Johnson, J., Kehr, S., Lara, M., Letaw, J.H., Litman, G.W., Litman, R.T., Mikami, M., Ota, T., Saha, N.R., Williams, L., Stadler, P.F., Wang, H., Taylor, J.S., Fontenot, Q., Ferrara, A., Searle, S.M., Aken, B., Yandell, M., Schneider, I., Yoder, J.A., Volff, J.N., Meyer, A., Amemiya, C.T., Venkatesh, B., Holland, P.W., Guiguen, Y., Bobe, J., Shubin, N.H., Di Palma, F., Alföldi, J., Lindblad-Toh, K., Postlethwait, J.H. (2016) The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons. Nature Genetics. 48(4):427-37
- 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
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