Gene
elnb
- ID
- ZDB-GENE-061212-2
- Name
- elastin b
- Symbol
- elnb Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to be an extracellular matrix structural constituent. Predicted to be located in collagen-containing extracellular matrix and extracellular region. Is expressed in cranium; heart; swim bladder; and ventral aorta. Human ortholog(s) of this gene implicated in several diseases, including Williams-Beuren syndrome; aortic disease (multiple); autoimmune disease (multiple); cutis laxa (multiple); and retinal disease (multiple). Orthologous to human ELN (elastin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 24 figures from 15 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Moriyama et al., 2016
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-elnb | Moriyama et al., 2016 | |
| MO1-elnb | N/A | (2) |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant cutis laxa 1 | Alliance | Cutis laxa, autosomal dominant | 123700 |
| supravalvular aortic stenosis | Alliance | Supravalvar aortic stenosis | 185500 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR003979 | Tropoelastin |
Domain Details Per Protein
| Protein | Additional Resources | Length | Tropoelastin |
|---|---|---|---|
| UniProtKB:A0A8M9P3C9 | InterPro | 1812 | |
| UniProtKB:A0A8M6Z3N0 | InterPro | 2104 | |
| UniProtKB:A0A8M6YV34 | InterPro | 2081 | |
| UniProtKB:A0A8M6YWX5 | InterPro | 1892 | |
| UniProtKB:A0A8M6YUG6 | InterPro | 2095 | |
| UniProtKB:A0A8M9PQI3 | InterPro | 2019 | |
| UniProtKB:A0A8M6Z2Z8 | InterPro | 2090 | |
| UniProtKB:A0A8M1NAS7 | InterPro | 2020 | |
| UniProtKB:A0A8M9PTX8 | InterPro | 2044 | |
| UniProtKB:A0AB32T7Y8 | InterPro | 2035 | |
| UniProtKB:A0AB32TEX8 | InterPro | 2095 |
Interactions and Pathways
No data available
Plasmids
No data available
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001048064 (1) | 6105 nt | ||
| Genomic | GenBank:CU302322 (1) | 218024 nt | ||
| Polypeptide | UniProtKB:A0A8M6Z3N0 (1) | 2104 aa |
- Sam, J., Torregroza, I., Evans, T. (2024) Gata6 functions in zebrafish endoderm to regulate late differentiating arterial pole cardiogenesis. Development (Cambridge, England). 151(17):
- Gafranek, J.T., D'Aniello, E., Ravisankar, P., Thakkar, K., Vagnozzi, R.J., Lim, H.W., Salomonis, N., Waxman, J.S. (2023) Sinus venosus adaptation models prolonged cardiovascular disease and reveals insights into evolutionary transitions of the vertebrate heart. Nature communications. 14:55095509
- Facchinello, N., Astone, M., Audano, M., Oberkersch, R.E., Spizzotin, M., Calura, E., Marques, M., Crisan, M., Mitro, N., Santoro, M.M. (2022) Oxidative pentose phosphate pathway controls vascular mural cell coverage by regulating extracellular matrix composition. Nature metabolism. 4:123-140
- Allanki, S., Strilic, B., Scheinberger, L., Onderwater, Y.L., Marks, A., Günther, S., Preussner, J., Kikhi, K., Looso, M., Stainier, D.Y.R., Reischauer, S. (2021) Interleukin-11 signaling promotes cellular reprogramming and limits fibrotic scarring during tissue regeneration. Science advances. 7:eabg6497
- Pottie, L., Van Gool, W., Vanhooydonck, M., Hanisch, F.G., Goeminne, G., Rajkovic, A., Coucke, P., Sips, P., Callewaert, B. (2021) Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures. PLoS Genetics. 17:e1009603
- Faucherre, A., Maati, H.M.O., Nasr, N., Pinard, A., Theron, A., Odelin, G., Desvignes, J.P., Salgado, D., Collod-Béroud, G., Avierinos, J.F., Lebon, G., Zaffran, S., Jopling, C. (2020) Piezo1 and outflow tract and aortic valve development. Journal of Molecular and Cellular Cardiology. 143:51-62
- Shi, Y., Li, Y., Wang, Y., Zhu, P., Chen, Y., Wang, H., Yue, S., Xia, X., Chen, J., Jiang, Z., Zhou, C., Cai, W., Yuan, H., Wu, Y., Wan, Y., Li, X., Zhu, X., Zhou, Z., Dai, G., Li, F., Mo, X., Ye, X., Fan, X., Zhuang, J., Wu, X., Yuan, W. (2020) BVES downregulation in non-syndromic tetralogy of fallot is associated with ventricular outflow tract stenosis. Scientific Reports. 10:14167
- Weinberger, M., Simões, F.C., Patient, R., Sauka-Spengler, T., Riley, P.R. (2020) Functional Heterogeneity within the Developing Zebrafish Epicardium. Developmental Cell. 52(5):574-590.e6
- Farr, G.H., Imani, K., Pouv, D., Maves, L. (2018) Functional testing of a human PBX3 variant in zebrafish reveals a potential modifier role in congenital heart defects.. Disease models & mechanisms. 11(10):
- Mandal, A., Holowiecki, A., Song, Y.C., Waxman, J.S. (2017) Wnt signaling balances specification of the cardiac and pharyngeal muscle fields. Mechanisms of Development. 143:32-41
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