Gene
col1a2
- ID
- ZDB-GENE-030131-8415
- Name
- collagen, type I, alpha 2
- Symbol
- col1a2 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Predicted to be an extracellular matrix structural constituent conferring tensile strength. Acts upstream of or within response to mechanical stimulus and skeletal system development. Predicted to be located in extracellular region. Predicted to be part of collagen type I trimer. Predicted to be active in extracellular matrix. Is expressed in several structures, including cranium; dermomyotome; integument; muscle; and pectoral fin. Used to study Ehlers-Danlos syndrome and osteogenesis imperfecta. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome (multiple); heart valve disease; intracranial aneurysm; osteogenesis imperfecta (multiple); and osteoporosis. Orthologous to human COL1A2 (collagen type I alpha 2 chain).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 57 figures from 41 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7145608 (20 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| ca108 | Allele with one deletion | Exon 12 | Unknown | CRISPR | |
| dmh15 | Allele with one point mutation | Unknown | Nonsynonymous | ENU | |
| ihb230 | Allele with one deletion | Exon 14 | Unknown | CRISPR | |
| la013496Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa1763 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa17981 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa32257 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa36897 | Allele with one point mutation | Unknown | Splice Site | ENU |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Ehlers-Danlos syndrome arthrochalasia type 2 | Alliance | Ehlers-Danlos syndrome, arthrochalasia type, 2 | 617821 |
| Ehlers-Danlos syndrome cardiac valvular type | Alliance | Ehlers-Danlos syndrome, cardiac valvular type | 225320 |
| osteogenesis imperfecta type 2 | Alliance | Osteogenesis imperfecta, type II | 166210 |
| osteogenesis imperfecta type 3 | Alliance | Osteogenesis imperfecta, type III | 259420 |
| osteogenesis imperfecta type 4 | Alliance | Osteogenesis imperfecta, type IV | 166220 |
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| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| osteogenesis imperfecta | col1a2dmh15/+ | standard conditions | Gistelinck et al., 2018 |
| Ehlers-Danlos syndrome | col1a2sa17981/sa17981 | standard conditions | Gistelinck et al., 2018 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Collagen and Collagen-like Structural Proteins | Collagen triple helix repeat | Fibrillar collagen, C-terminal |
|---|---|---|---|---|---|
| UniProtKB:Q6IQX2 | InterPro | 1352 | |||
| UniProtKB:A0A8M2B6I3 | InterPro | 1319 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
col1a2-201
(1)
|
Ensembl | 5,750 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| TgBAC(col1a2:GAL4-VP16) |
|
| 1 | (3) | |
| TgBAC(col1a2:GFP) |
|
| 1 | (3) | |
| Tg(col1a2:LOXP-mCherry-NTR) |
|
| 1 | (7) | |
| Tg(col1a2:LOXP-TagBFP-LOXP-mCherry-NTR) |
|
| 1 | (3) | |
| Tg(krt1-19e:col1a2-EGFP) |
|
| 1 | (4) | |
| Tg(krt1-19e:col1a2-mCherry) |
|
| 1 | Morris et al., 2018 | |
| Tg(UAS:col1a2-GFP) |
|
| 1 | Rajan et al., 2020 |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-104M9 | ZFIN Curated Data | |
| Encodes | EST | fa98d05 | ZFIN Curated Data | |
| Encodes | EST | fa99g10 | ZFIN Curated Data | |
| Encodes | EST | fb04c08 | ||
| Encodes | EST | fb11d06 | ||
| Encodes | EST | IMAGE:7145608 | Thisse et al., 2004 | |
| Encodes | EST | zehn2357 | ||
| Encodes | cDNA | MGC:85701 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_182968 (1) | 5182 nt | ||
| Genomic | GenBank:BX640469 (1) | 83435 nt | ||
| Polypeptide | UniProtKB:Q6IQX2 (1) | 1352 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:
- Jia, H., Wu, R., Yang, H., Luo, K.Q. (2025) FRET-Based Sensor Zebrafish Reveal Muscle Cells Do Not Undergo Apoptosis in Starvation or Natural Aging-Induced Muscle Atrophy. Advanced science (Weinheim, Baden-Wurttemberg, Germany). :e2416811e2416811
- Liu, B., Wang, P., Lv, X. (2025) Phytol-mixed micelles alleviate dexamethasone-induced osteoporosis in zebrafish: Activation of the MMP3-OPN-MAPK pathway-mediating bone remodeling. Open life sciences. 20:2022101520221015
- She, P., Gao, B., Li, D., Wu, C., Zhu, X., He, Y., Mo, F., Qi, Y., Jin, D., Chen, Y., Zhao, X., Lin, J., Hu, H., Li, J., Zhang, B., Xie, P., Lin, C., Christoffels, V.M., Wu, Y., Zhu, P., Zhong, T.P. (2025) The transcriptional repressor HEY2 regulates mitochondrial oxidative respiration to maintain cardiac homeostasis. Nature communications. 16:232232
- Carey, C.M., Hollins, H.L., Schmid, A.V., Gagnon, J.A. (2024) Distinct features of the regenerating heart uncovered through comparative single-cell profiling. Biology Open. 13(4):
- Carver, J.J., Amato, C.M., Yao, H., Zhu, Y. (2024) Adamts9 is required for the development of primary ovarian follicles and maintenance of female sex in zebrafish. Biology of reproduction. 111(5):1107-1128
- Kabir, A., B, M., A, N., Selvaraj, V., Sudhakar, S. (2024) Protein Nano Coop Complexes Promote Fracture Healing and Bone Regeneration in a Zebrafish Osteoporosis Model. Biomacromolecules. 25(11):7237-7248
- 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. :
- Bao, J., Yu, X., Ping, X., Shentu, X., Zou, J. (2023) Znf469 Plays a Critical Role in Regulating Synthesis of ECM: A Zebrafish Model of Brittle Cornea Syndrome. Investigative ophthalmology & visual science. 64:2929
- Jin, Z., Wang, D., Lv, H., Wu, B., Li, Z., Guo, X., Wang, H., Yang, S. (2023) Loss of the adaptor protein Sh3bgrl initiates ovarian fibrosis in zebrafish. FEBS letters. 597(21):2643-2655
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