Gene
col5a2a
- ID
- ZDB-GENE-030616-13
- Name
- collagen, type V, alpha 2a
- Symbol
- col5a2a Nomenclature History
- Previous Names
-
- col5a2l
- im:7038599
- si:by143e18.1
- si:ch211-198b21.5
- si:dz167c3.3
- wu:fa13f03
- wu:fa98d01
- wu:fj05e03
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to be an extracellular matrix structural constituent. 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 extracellular matrix and extracellular space. Is expressed in several structures, including epidermis; median fin fold; paraxial mesoderm; pectoral fin; and pharyngeal arch. 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
- 24 figures from 8 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7146646 (1 image)
- eu144 (14 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa657 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa7207 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa7208 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa8629 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa11735 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa13316 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa13820 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa14075 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa16186 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa21557 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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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 | Length | Collagen superfamily | Collagen triple helix repeat | Fibrillar collagen, C-terminal | VWFC domain |
|---|---|---|---|---|---|
|
UniProtKB:A0A8M1NTE7
|
1491 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA | col5a2a-001 (1) | Havana | 4,276 nt | ||
| mRNA |
col5a2a-201
(1)
|
Ensembl | 5,063 nt | ||
| ncRNA | col5a2a-002 (1) | Havana | 984 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 | CH211-198B21 | ZFIN Curated Data | |
| Contained in | BAC | IZAB-143E18 | ZFIN Curated Data | |
| Contained in | PAC | BUSM1-167C3 | ||
| Encodes | EST | eu144 | Thisse et al., 2005 | |
| Encodes | EST | fa13f03 | ||
| Encodes | EST | fa98d01 | ||
| Encodes | EST | fb19e04 | Rauch et al., 2003 | |
| Encodes | EST | fj05e03 | ||
| Encodes | EST | IMAGE:7038599 | ||
| Encodes | EST | IMAGE:7146646 | Thisse et al., 2004 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001145782 (1) | 6174 nt | ||
| Genomic | GenBank:BX640465 (2) | 214459 nt | ||
| Polypeptide | UniProtKB:A0A8M1NTE7 (1) | 1491 aa |
- Comparative Orthology
- Alliance
- Li, J., Xu, Y., Jiang, Y., Li, N., Li, Z., Kong, D., Guo, X., Zhang, J., Zuo, R. (2022) Nongenomic effects and mechanistic study of butyl benzyl phthalate-induced thyroid disruption: Based on integrated in vitro, in silico assays and proteome analysis. The Science of the total environment. 836:155715
- 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
- Grivas, D., González-Rajal, Á., de la Pompa, J.L. (2021) Midkine-a Regulates the Formation of a Fibrotic Scar During Zebrafish Heart Regeneration. Frontiers in cell and developmental biology. 9:669439
- Tsai, Y.W., Jeng, K.S., He, M.K., Hsieh, Y.W., Lai, H.H., Lai, C.Y., Huang, C.C., Chang, C.F., Huang, C.T., Her, G.M. (2021) MXD3 Promotes Obesity and the Androgen Receptor Signaling Pathway in Gender-Disparity Hepatocarcinogenesis. Cells. 10(12):
- Garcia-Puig, A., Mosquera, J.L., Jiménez-Delgado, S., García-Pastor, C., Jorba, I., Navajas, D., Canals, F., Raya, A. (2019) Proteomics analysis of extracellular matrix remodeling during zebrafish heart regeneration. Molecular & cellular proteomics : MCP. 18(9):1745-1755
- 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
- 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
- Wehner, D., Tsarouchas, T.M., Michael, A., Haase, C., Weidinger, G., Reimer, M.M., Becker, T., Becker, C.G. (2017) Wnt signaling controls pro-regenerative Collagen XII in functional spinal cord regeneration in zebrafish. Nature communications. 8:126
- 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
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