Gene
col12a1a
- ID
- ZDB-GENE-090728-1
- Name
- collagen, type XII, alpha 1a
- Symbol
- col12a1a Nomenclature History
- Previous Names
-
- col12a1
- fa99f12
- wu:fa99f12
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Acts upstream of or within regeneration and regulation of axon regeneration. Predicted to be located in extracellular region. Predicted to be part of collagen trimer. Is expressed in several structures, including immature eye; integument; myoseptum; nervous system; and trunk vasculature. Human ortholog(s) of this gene implicated in Bethlem myopathy and Ullrich congenital muscular dystrophy 2. Orthologous to human COL12A1 (collagen type XII alpha 1 chain).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 22 figures from 10 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-col12a1a | Wehner et al., 2017 | |
| MO1-col12a1a | N/A | Wehner et al., 2017 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Ullrich congenital muscular dystrophy 2 | Alliance | ?Ullrich congenital muscular dystrophy 2 | 616470 |
| Bethlem myopathy 2 | 616471 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR002035 | von Willebrand factor, type A |
| Domain | IPR003961 | Fibronectin type III |
| Domain | IPR048287 | Thrombospondin-like, N-terminal domain |
| Family | IPR050525 | Extracellular Matrix Assembly and Organization |
| Homologous_superfamily | IPR013320 | Concanavalin A-like lectin/glucanase domain superfamily |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Collagen triple helix repeat | Concanavalin A-like lectin/glucanase domain superfamily | Extracellular Matrix Assembly and Organization | Fibronectin type III | Fibronectin type III superfamily | Immunoglobulin-like fold | Thrombospondin-like, N-terminal domain | von Willebrand factor A-like domain superfamily | von Willebrand factor, type A |
|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M3B2N6 | InterPro | 3020 | |||||||||
| UniProtKB:A0A8M3AK48 | InterPro | 1950 | |||||||||
| UniProtKB:A0A8M1RKT8 | InterPro | 3067 | |||||||||
| UniProtKB:A0A8M3AJ97 | InterPro | 3112 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
col12a1a-201
(1)
|
Ensembl | 10,560 nt | ||
| mRNA |
col12a1a-202
(1)
|
Ensembl | 940 nt | ||
| mRNA |
col12a1a-204
(1)
|
Ensembl | 8,928 nt | ||
| ncRNA |
col12a1a-002
(1)
|
Ensembl | 630 nt |
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Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-col12a1 | polyclonal | Rabbit |
|
7 | |||
| Ab2-col12a1 | polyclonal | Guinea pig |
|
5 |
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Plasmids
No data available
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| Tg(-4col12a1a:GAL4-VP16,ins:YFP) |
|
| 1 | Hu et al., 2022 | |
| Tg(hsp70l:col12a1a-p2A-Cerulean) |
| 1 | (2) |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH73-133O19 | ZFIN Curated Data | |
| Contained in | BAC | CH73-213I16 | ZFIN Curated Data | |
| Contained in | Fosmid | CH1073-18E6 | ZFIN Curated Data | |
| Contained in | Fosmid | CH1073-327K3 | ZFIN Curated Data | |
| Contained in | Fosmid | ZFOS-756G12 | ZFIN Curated Data | |
| Encodes | EST | fa99f12 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_002665259 (1) | 10771 nt | ||
| Genomic | GenBank:CU693377 (2) | 93968 nt | ||
| Polypeptide | UniProtKB:A0A8M3AJ97 (1) | 3112 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):
- Anderson, T., Mo, J., Gagarin, E., Sherwood, D., Blumenkrantz, M., Mao, E., Leon, G., Levitz, H., Chen, H.J., Tseng, K.C., Fabian, P., Crump, J.G., Smeeton, J. (2023) Ligament injury in adult zebrafish triggers ECM remodeling and cell dedifferentiation for scar-free regeneration. NPJ Regenerative medicine. 8:5151
- Daponte, V., Tonelli, F., Masiero, C., Syx, D., Exbrayat-Héritier, C., Biggiogera, M., Willaert, A., Rossi, A., Coucke, P.J., Ruggiero, F., Forlino, A. (2023) Cell differentiation and matrix organization are differentially affected during bone formation in osteogenesis imperfecta zebrafish models with different genetic defects impacting collagen type I structure. Matrix biology : journal of the International Society for Matrix Biology. 121:105-126
- Kolb, J., Tsata, V., John, N., Kim, K., Möckel, C., Rosso, G., Kurbel, V., Parmar, A., Sharma, G., Karandasheva, K., Abuhattum, S., Lyraki, O., Beck, T., Müller, P., Schlüßler, R., Frischknecht, R., Wehner, A., Krombholz, N., Steigenberger, B., Beis, D., Takeoka, A., Blümcke, I., Möllmert, S., Singh, K., Guck, J., Kobow, K., Wehner, D. (2023) Small leucine-rich proteoglycans inhibit CNS regeneration by modifying the structural and mechanical properties of the lesion environment. Nature communications. 14:68146814
- Hu, B., Lelek, S., Spanjaard, B., El-Sammak, H., Simões, M.G., Mintcheva, J., Aliee, H., Schäfer, R., Meyer, A.M., Theis, F., Stainier, D.Y.R., Panáková, D., Junker, J.P. (2022) Origin and function of activated fibroblast states during zebrafish heart regeneration. Nature Genetics. 54(8):1227-1237
- John, N., Kolb, J., Wehner, D. (2022) Mechanical spinal cord transection in larval zebrafish and subsequent whole-mount histological processing. STAR protocols. 3:101093
- Malbouyres, M., Guiraud, A., Lefrançois, C., Salamito, M., Nauroy, P., Bernard, L., Sohm, F., Allard, B., Ruggiero, F. (2022) Lack of the myotendinous junction marker col22a1 results in posture and locomotion disabilities in zebrafish. Matrix biology : journal of the International Society for Matrix Biology. 109:1-18
- 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):
- Ma, H., Liu, Z., Yang, Y., Feng, D., Dong, Y., Garbutt, T.A., Hu, Z., Wang, L., Luan, C., Cooper, C.D., Li, Y., Welch, J.D., Qian, L., Liu, J. (2021) Functional coordination of non-myocytes plays a key role in adult zebrafish heart regeneration. EMBO reports. 22(11):e52901
- Missinato, M.A., Zuppo, D.A., Watkins, S.C., Bruchez, M.P., Tsang, M. (2021) Zebrafish heart regenerates after chemoptogenetic cardiomyocyte depletion. Developmental Dynamics : an official publication of the American Association of Anatomists. 250(7):986-1000
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