Gene
fbn2a
- ID
- ZDB-GENE-090112-4
- Name
- fibrillin 2a
- Symbol
- fbn2a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Predicted to enable calcium ion binding activity. Predicted to be an extracellular matrix structural constituent. Predicted to be located in collagen-containing extracellular matrix and extracellular region. Human ortholog(s) of this gene implicated in congenital contractural arachnodactyly and scoliosis. Orthologous to human FBN2 (fibrillin 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Talbot et al., 2016
- 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
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa14044 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa14555 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa17112 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa21695 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa21696 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa21697 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa27582 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa31772 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa34870 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa34871 | Allele with one point mutation | Unknown | Splice Site | ENU |
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No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital contractural arachnodactyly | Alliance | Contractural arachnodactyly, congenital | 121050 |
| Macular degeneration, early-onset | 616118 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Complement Clr-like EGF domain | EGF domain | EGF-like calcium-binding, conserved site | EGF-like calcium-binding domain | EGF-like, conserved site | EGF-like domain | EGF-type aspartate/asparagine hydroxylation site | Growth Arrest-Specific/Sex Hormone-Binding/Vitamin K-Dependent | Growth factor receptor cysteine-rich domain superfamily | NOTCH1 EGF-like calcium-binding domain | TB domain | TGF-beta binding (TB) domain superfamily | von Willebrand factor C/EGF & Fibrillin |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9Q6D2
|
698 | |||||||||||||
|
UniProtKB:A0A8M9PTW5
|
1932 |
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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 | CH211-145F8 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_021479287 (1) | 9368 nt | ||
| Genomic | GenBank:CT027815 (2) | 112009 nt | ||
| Polypeptide | UniProtKB:A0A8M9PTW5 (1) | 1932 aa |
- Sullivan, C., Lage, C.R., Yoder, J.A., Postlethwait, J.H., Kim, C.H. (2017) Evolutionary divergence of the vertebrate TNFAIP8 gene family: Applying the spotted gar orthology bridge to understand ohnolog loss in teleosts. PLoS One. 12:e0179517
- Talbot, J.C., Nichols, J.T., Yan, Y.L., Leonard, I.F., BreMiller, R.A., Amacher, S.L., Postlethwait, J.H., Kimmel, C.B. (2016) Pharyngeal morphogenesis requires fras1-itga8- dependent epithelial-mesenchymal interaction. Developmental Biology. 416(1):136-48
- 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
- Mellman, K., Huisken, J., Dinsmore, C., Hoppe, C., and Stainier, D.Y. (2012) Fibrillin-2b regulates endocardial morphogenesis in zebrafish. Developmental Biology. 372(1):111-119
- Gansner, J.M., Madsen, E.C., Mecham, R.P., and Gitlin, J.D. (2008) Essential role for fibrillin-2 in zebrafish notochord and vascular morphogenesis. Developmental Dynamics : an official publication of the American Association of Anatomists. 237(10):2844-2861
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