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. 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 and extracellular space. Is expressed in several structures, including cranium; dermomyotome; integument; osteoblast; 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
- 56 figures from 40 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 | Length | Collagen superfamily | Collagen triple helix repeat | Fibrillar collagen, C-terminal |
|---|---|---|---|---|
|
UniProtKB:Q6IQX2
|
1352 | |||
|
UniProtKB:A0A8M2B6I3
|
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
| 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 |
- 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):
- 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
- Liu, X., Yu, T., Tan, X., Jin, D., Yang, W., Zhang, J., Dai, L., He, Z., Li, D., Zhang, Y., Liao, S., Zhao, J., Zhong, T.P., Liu, C. (2023) Renal interstitial cells promote nephron regeneration by secreting prostaglandin E2. eLIFE. 12:
- Raterman, S.T., Von Den Hoff, J.W., Dijkstra, S., De Vriend, C., Te Morsche, T., Broekman, S., Zethof, J., De Vrieze, E., Wagener, F.A.D.T.G., Metz, J.R. (2023) Disruption of the foxe1 gene in zebrafish reveals conserved functions in development of the craniofacial skeleton and the thyroid. Frontiers in cell and developmental biology. 11:11438441143844
- Singh Angom, R., Wang, Y., Wang, E., Dutta, S., Mukhopadhyay, D. (2023) Conditional, Tissue-Specific CRISPR/Cas9 Vector System in Zebrafish Reveals the Role of Nrp1b in Heart Regeneration. Arteriosclerosis, Thrombosis, and Vascular Biology. 43(10):1921-1934
- Vöcking, O., Famulski, J.K. (2023) A temporal single cell transcriptome atlas of zebrafish anterior segment development. Scientific Reports. 13:56565656
- Xue, Q., Varady, S.R.S., Waddell, T.Q.A., Roman, M.R., Carrington, J., Roh-Johnson, M. (2023) Lack of Paxillin phosphorylation promotes single-cell migration in vivo. The Journal of cell biology. 222(3):
- Zhang, J., Li, P., Sun, L., Jiang, N., Guo, W., Wang, J., Gao, F., Li, J., Li, H., Zhang, J., Mu, H., Hu, Y., Cui, X. (2023) Knockout of miR-184 in zebrafish leads to ocular abnormalities by elevating p21 levels. FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 37:e22927e22927
- Bergen, D.J.M., Tong, Q., Shukla, A., Newham, E., Zethof, J., Lundberg, M., Ryan, R., Youlten, S.E., Frysz, M., Croucher, P.I., Flik, G., Richardson, R.J., Kemp, J.P., Hammond, C.L., Metz, J.R. (2022) Regenerating zebrafish scales express a subset of evolutionary conserved genes involved in human skeletal disease. BMC Biology. 20:21
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