Gene
col2a1a
- ID
- ZDB-GENE-980526-192
- Name
- collagen, type II, alpha 1a
- Symbol
- col2a1a Nomenclature History
- Previous Names
-
- col2a1
- coll2a1
- fb38c06
- fc10c01
- wu:fb38c06 (1)
- wu:fc10c01
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to be an extracellular matrix structural constituent conferring tensile strength. Acts upstream of or within several processes, including embryonic skeletal system development; neural crest cell migration; and notochord development. Predicted to be located in extracellular region. Predicted to be part of collagen type II trimer. Predicted to be active in extracellular matrix. Is expressed in several structures, including endoderm; fin; floor plate; head; and skeletal system. Human ortholog(s) of this gene implicated in Stickler syndrome (multiple); bone disease (multiple); cleft palate; eye disease (multiple); and multiple epiphyseal dysplasia with myopia and deafness. Orthologous to human COL2A1 (collagen type II alpha 1 chain).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 217 figures from 171 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| dmh27 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| dmh28 | Allele with one point mutation | Unknown | Nonsynonymous | ENU | |
| sa532 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa21270 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa34379 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa34380 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| uq36bh | Allele with one delins | Unknown | Unknown | CRISPR |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-col2a1a | Chaudhury et al., 2020 | |
| MO1-col2a1a | N/A | Gansner et al., 2007 |
| MO2-col2a1a | N/A | (5) |
| MO3-col2a1a | N/A | Durán et al., 2011 |
| MO4-col2a1a | N/A | Williams et al., 2022 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| achondrogenesis type II | Alliance | Achondrogenesis, type II or hypochondrogenesis | 200610 |
| Kniest dysplasia | Alliance | Kniest dysplasia | 156550 |
| Legg-Calve-Perthes disease | Alliance | Legg-Calve-Perthes disease | 150600 |
| multiple epiphyseal dysplasia with myopia and deafness | Alliance | ?Epiphyseal dysplasia, multiple, with myopia and deafness | 132450 |
| spondyloepimetaphyseal dysplasia, Strudwick type | Alliance | SMED Strudwick type | 184250 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Collagen and Collagen-like Structural Proteins | Collagen superfamily | Collagen triple helix repeat | Fibrillar collagen, C-terminal | VWFC domain |
|---|---|---|---|---|---|---|---|
| UniProtKB:Q2LDA1 | InterPro | 1491 | |||||
| UniProtKB:B3DLK0 | InterPro | 1421 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
col2a1a-201
(1)
|
Ensembl | 5,723 nt | ||
| mRNA |
col2a1a-202
(1)
|
Ensembl | 5,937 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| Tg(-1.7col2a1a:EGFP-CAAX) |
|
| 3 | (11) | |
| Tg(-1.7col2a1a:EGFP) |
|
| 1 | (2) | |
| Tg(-1.7col2a1a:h2az2a-mCherry) |
|
| 1 | Unlu et al., 2020 | |
| Tg(-1.7col2a1a:sec23a-2A-EGFP) |
|
| 1 | Cox et al., 2017 | |
| Tg2(col2a1a:EGFP) |
|
| 1 | (3) | |
| Tg3(col2a1a:EGFP) |
|
| 1 | Niu et al., 2016 | |
| TgBAC(col2a1a:EGFP) |
|
| 1 | (9) | |
| TgBAC(col2a1a:mCherry) |
|
| 1 | (34) | |
| TgBAC(col2a1a:mCherry-NTR) |
|
| 1 | (4) | |
| Tg(col2a1a:bmpr1aa) |
|
| 1 | (2) |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-216K22 | ZFIN Curated Data | |
| Encodes | EST | fb38c06 | ZFIN Curated Data | |
| Encodes | EST | fc10c01 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:174994 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:195369 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_131292 (1) | 4862 nt | ||
| Genomic | GenBank:BX927144 (1) | 168503 nt | ||
| Polypeptide | UniProtKB:Q2LDA1 (1) | 1491 aa |
- Debaenst, S., Jarayseh, T., De Saffel, H., Bek, J.W., Boone, M., Josipovic, I., Kibleur, P., Kwon, R.Y., Coucke, P.J., Willaert, A. (2025) Crispant analysis in zebrafish as a tool for rapid functional screening of disease-causing genes for bone fragility. eLIFE. 13:
- Xia, X., Song, W., Zhang, F., Fan, Y., Zhang, B., Chen, X. (2025) ctdsp2 Knockout Induces Zebrafish Craniofacial Dysplasia via p53 Signaling Activation. International Journal of Molecular Sciences. 26:
- Breuer, M., Rummler, M., Singh, J., Maher, S., Zaouter, C., Jamadagni, P., Pilon, N., Willie, B.M., Patten, S.A. (2024) CHD7 regulates craniofacial cartilage development via controlling HTR2B expression. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 39(4):498-512
- Guo, X., Yang, L., Wang, Y., Yuan, M., Zhang, W., He, X., Wang, Q. (2024) Wnt2bb signaling promotes pharyngeal chondrogenic precursor proliferation and chondrocyte maturation by activating Yap expression in zebrafish. Journal of genetics and genomics = Yi chuan xue bao. :
- Lee, J.J., Wang, T., Wiggins, K., Lu, P.N., Underwood, C., Ochenkowska, K., Samarut, E., Pollard, L.M., Flanagan-Steet, H., Steet, R. (2024) Dysregulated lysosomal exocytosis drives protease-mediated cartilage pathogenesis in multiple lysosomal disorders. iScience. 27:109293109293
- Miller, B.M., Goessling, W. (2024) The proteasome subunit psmb1 is essential for craniofacial cartilage maturation and morphogenesis. JCI insight. 9(16):
- Mori, Y., Smith, S., Wang, J., Eliora, N., Heikes, K.L., Munjal, A. (2024) Versican controlled by Lmx1b regulates hyaluronate density and hydration for semicircular canal morphogenesis. Development (Cambridge, England). 152(1):
- Niu, X., Melendez, D.L., Raj, S., Cai, J., Senadeera, D., Mandelbaum, J., Shestopalov, I.A., Martin, S.D., Zon, L.I., Schlaeger, T.M., Lai, L.P., McMahon, A.P., Craft, A.M., Galloway, J.L. (2024) A conserved transcription factor regulatory program promotes tendon fate. Developmental Cell. 59(23):3106-3123.e12
- Niu, X., Zhang, F., Gu, W., Zhang, B., Chen, X. (2024) FBLN2 is associated with Goldenhar syndrome and is essential for cranial neural crest cell development. Annals of the New York Academy of Sciences. 1537(1):113-128
- Raterman, S.T., Wagener, F.A.D.T.G., Zethof, J., Cuijpers, V., Klaren, P.H.M., Metz, J.R., Von den Hoff, J.W. (2024) foxe1 mutant zebrafish show indications of a hypothyroid phenotype and increased sensitivity to ethanol for craniofacial malformations. Developmental Dynamics : an official publication of the American Association of Anatomists. :
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