Gene
col5a2b
- ID
- ZDB-GENE-110406-2
- Name
- collagen, type V, alpha 2b
- Symbol
- col5a2b Nomenclature History
- Previous Names
-
- si:rp71-56k2.1
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to be an extracellular matrix structural constituent conferring tensile strength. Predicted to be involved in extracellular matrix organization. Predicted to be located in extracellular region. Predicted to be part of collagen type V trimer. Predicted to be active in collagen-containing extracellular matrix and extracellular space. Is expressed in eye. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome and Ehlers-Danlos syndrome classic type 2. Orthologous to human COL5A2 (collagen type V alpha 2 chain).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 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
No data available
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-col5a2b | Prendergast et al., 2022 | |
| CRISPR2-col5a2b | Prendergast et al., 2022 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Ehlers-Danlos syndrome classic type 2 | Alliance | Ehlers-Danlos syndrome, classic type, 2 | 130010 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Collagen superfamily | Collagen triple helix repeat | Fibrillar collagen, C-terminal | VWFC domain |
|---|---|---|---|---|---|---|
| UniProtKB:E7FE47 | InterPro | 1499 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
col5a2b-201
(1)
|
Ensembl | 4,896 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 | RP71-56K2 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_001919970 (1) | 5440 nt | ||
| Genomic | GenBank:BX640508 (1) | 154639 nt | ||
| Polypeptide | UniProtKB:E7FE47 (1) | 1499 aa |
- Zhang, Y., He, L., Yang, Y., Cao, J., Su, Z., Zhang, B., Guo, H., Wang, Z., Zhang, P., Xie, J., Li, J., Ye, J., Zha, Z., Yu, H., Hong, A., Chen, X. (2023) Triclocarban triggers osteoarthritis via DNMT1-mediated epigenetic modification and suppression of COL2A in cartilage tissues. Journal of hazardous materials. 447:130747130747
- Prendergast, A., Ziganshin, B.A., Papanikolaou, D., Zafar, M.A., Nicoli, S., Mukherjee, S., Elefteriades, J.A. (2022) Phenotyping Zebrafish Mutant Models to Assess Candidate Genes Associated with Aortic Aneurysm. Genes. 13(1):
- Sarohi, V., Srivastava, S., Basak, T. (2022) Comprehensive Mapping and Dynamics of Site-Specific Prolyl-Hydroxylation, Lysyl-Hydroxylation and Lysyl O-Glycosylation of Collagens Deposited in ECM During Zebrafish Heart Regeneration. Frontiers in molecular biosciences. 9:892763
- Bretaud, S., Nauroy, P., Malbouyres, M., Ruggiero, F. (2018) FISHING FOR COLLAGEN FUNCTION: ABOUT DEVELOPMENT, REGENERATION AND DISEASE. Seminars in cell & developmental biology. 89:100-108
- Hendee, K.E., Sorokina, E.A., Muheisen, S.S., Reis, L.M., Tyler, R.C., Markovic, V., Cuturilo, G., Link, B.A., Semina, E.V. (2018) PITX2 deficiency and associated human disease: insights from the zebrafish model. Human molecular genetics. 27(10):1675-1695
- Tsarouchas, T.M., Wehner, D., Cavone, L., Munir, T., Keatinge, M., Lambertus, M., Underhill, A., Barrett, T., Kassapis, E., Ogryzko, N., Feng, Y., van Ham, T.J., Becker, T., Becker, C.G. (2018) Dynamic control of proinflammatory cytokines Il-1β and Tnf-α by macrophages in zebrafish spinal cord regeneration. Nature communications. 9:4670
- Díaz-Pascual, F., Ortíz-Severín, J., Varas, M.A., Allende, M.L., Chávez, F.P. (2017) In vivo Host-Pathogen Interaction as Revealed by Global Proteomic Profiling of Zebrafish Larvae.. Frontiers in cellular and infection microbiology. 7:334
- 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
- Duran, I., Csukasi, F., Taylor, S.P., Krakow, D., Becerra, J., Bombarely, A., Marí-Beffa, M. (2015) Collagen duplicate genes of bone and cartilage participate during regeneration of zebrafish fin skeleton. Gene expression patterns : GEP. 19(1-2):60-9
- 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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