ZFIN is now using GRCz12tu for Genomic Data
Gene
col9a3
- ID
- ZDB-GENE-030131-9799
- Name
- collagen, type IX, alpha 3
- Symbol
- col9a3 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to be an extracellular matrix structural constituent conferring tensile strength. Predicted to be located in extracellular region. Predicted to be active in extracellular matrix. Is expressed in several structures, including head mesenchyme; hypochord; mesoderm; notochord; and pectoral fin. Human ortholog(s) of this gene implicated in Stickler syndrome; multiple epiphyseal dysplasia 3; and osteochondrodysplasia. Orthologous to human COL9A3 (collagen type IX alpha 3 chain).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb367 (12 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
sa13060 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa13212 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa16929 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa37580 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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No data available
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
multiple epiphyseal dysplasia 3 | Alliance | Epiphyseal dysplasia, multiple, 3, with or without myopathy | 600969 |
Stickler syndrome, type VI | 620022 | ||
{Intervertebral disc disease, susceptibility to} | 603932 |
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Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Additional Resources | Length | Collagen superfamily | Collagen triple helix repeat |
---|---|---|---|---|
UniProtKB:F1R1F1 | InterPro | 679 |
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Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
col9a3-201
(1)
|
Ensembl | 3,113 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 | DKEYP-44B8 | ZFIN Curated Data | |
Contains | SNP | rs3729220 | ZFIN Curated Data | |
Contains | SNP | rs3729221 | ZFIN Curated Data | |
Encodes | EST | cb367 | Thisse et al., 2001 | |
Encodes | EST | fa04f01 | ZFIN Curated Data | |
Encodes | EST | fc03f09 |
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Type | Accession # | Genome Assembly | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_001305573 (1) | 3113 nt | ||
Genomic | GenBank:BX323461 (1) | 169310 nt | ||
Polypeptide | UniProtKB:F1R1F1 (1) | 679 aa |
- Banu, S., Gaur, N., Nair, S., Ravikrishnan, T., Khan, S., Mani, S., Bharathi, S., Mandal, K., Kuram, N.A., Vuppaladadium, S., Ravi, R., Murthy, C.L.N., Quoseena, M., Babu, N.S., Idris, M.M. (2022) Transcriptomic and proteomic analysis of epimorphic regeneration in zebrafish caudal fin tissue. Genomics. 114(2):110300
- Rayrikar, A.Y., Wagh, G.A., Santra, M., Patra, C. (2022) Ccn2a-FGFR1-SHH signaling is necessary for intervertebral disc homeostasis and regeneration in adult zebrafish. Development (Cambridge, England). 150(1):
- Jiang, Y., Xin, N., Yang, J., Wu, W., Wang, M., Feng, N., Zhu, G. (2021) Prednisolone suppresses collagen-encoding gene expression causing cartilage defects in zebrafish larvae. Environmental Toxicology and Pharmacology. 87:103719
- Xu, P., Yu, H.V., Tseng, K.C., Flath, M., Fabian, P., Segil, N., Crump, J.G. (2021) Foxc1 establishes enhancer accessibility for craniofacial cartilage differentiation. eLIFE. 10:
- 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
- He, H., Wang, C., Tang, Q., Yang, F., Xu, Y. (2018) Elucidation of possible molecular mechanisms underlying the estrogen-induced disruption of cartilage development in zebrafish larvae. Toxicology letters. 289:22-27
- 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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