Gene
mfap5
- ID
- ZDB-GENE-100922-279
- Name
- microfibril associated protein 5
- Symbol
- mfap5 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to be involved in embryonic eye morphogenesis. Predicted to be active in microfibril. Human ortholog(s) of this gene implicated in thoracic aortic aneurysm. Orthologous to human MFAP5 (microfibril associated protein 5).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- 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
No data available
No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Aortic aneurysm, familial thoracic 9 | 616166 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR008673 | Microfibril-associated glycoprotein |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Microfibril-associated glycoprotein |
|---|---|---|---|
| UniProtKB:E9QCC4 | InterPro | 126 |
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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-38O19 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001386410 (1) | |||
| Genomic | GenBank:CR848818 (1) | 208738 nt | ||
| Polypeptide | UniProtKB:E9QCC4 (1) | 126 aa |
- Liang, Y.L., Hu, Y.X., Li, F.F., You, H.M., Chen, J., Liang, C., Guo, Z.F., Jing, Q. (2024) Adaptor protein Src-homology 2 domain containing E (SH2E) deficiency induces heart defect in zebrafish. Acta Pharmacologica Sinica. :
- Ong, S.L.M., de Vos, I.J.H.M., Meroshini, M., Poobalan, Y., Dunn, N.R. (2020) Microfibril-associated glycoprotein 4 (Mfap4) regulates haematopoiesis in zebrafish. Scientific Reports. 10:11801
- 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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