Gene
col11a2
- ID
- ZDB-GENE-000208-23
- Name
- collagen, type XI, alpha 2
- Symbol
- col11a2 Nomenclature History
- Previous Names
-
- col11a1 (1)
- 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 cartilage morphogenesis. Predicted to be located in extracellular region. Predicted to be part of collagen trimer. Predicted to be active in collagen-containing extracellular matrix and extracellular space. Is expressed in several structures, including head; notochord; pectoral fin bud; skeletal element; and trabecular layer. Human ortholog(s) of this gene implicated in cleft palate; nonsyndromic deafness (multiple); and osteochondrodysplasia (multiple). Orthologous to human COL11A2 (collagen type XI alpha 2 chain).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 21 figures from 12 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 12 figures from 2 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| hsc208 | Allele with one deletion | Unknown | Unknown | CRISPR | |
| hsc209 | Allele with one deletion | Unknown | Unknown | CRISPR | |
| la028083Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa17390 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa18324 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa23437 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa29153 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa36775 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa44904 | Allele with one point mutation | Unknown | Unknown | ENU |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant nonsyndromic deafness 13 | Alliance | Deafness, autosomal dominant 13 | 601868 |
| autosomal recessive nonsyndromic deafness 53 | Alliance | Deafness, autosomal recessive 53 | 609706 |
| fibrochondrogenesis 2 | Alliance | Fibrochondrogenesis 2 | 614524 |
| otospondylomegaepiphyseal dysplasia, autosomal dominant | Alliance | Otospondylomegaepiphyseal dysplasia, autosomal dominant | 184840 |
| otospondylomegaepiphyseal dysplasia, autosomal recessive | Alliance | Otospondylomegaepiphyseal dysplasia, autosomal recessive | 215150 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000885 | Fibrillar collagen, C-terminal |
| Domain | IPR001791 | Laminin G domain |
| Domain | IPR048287 | Thrombospondin-like, N-terminal domain |
| Family | IPR050149 | Collagen superfamily |
| Family | IPR050938 | Collagen and Collagen-like Structural Proteins |
| Homologous_superfamily | IPR013320 | Concanavalin A-like lectin/glucanase domain superfamily |
| Repeat | IPR008160 | Collagen triple helix repeat |
Domain Details Per Protein
| Protein | Additional Resources | Length | Collagen and Collagen-like Structural Proteins | Collagen superfamily | Collagen triple helix repeat | Concanavalin A-like lectin/glucanase domain superfamily | Fibrillar collagen, C-terminal | Laminin G domain | Thrombospondin-like, N-terminal domain |
|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M1NB54 | InterPro | 1695 | |||||||
| UniProtKB:F1R5X4 | InterPro | 1721 | |||||||
| UniProtKB:A0A8M1P8Y1 | InterPro | 1803 | |||||||
| UniProtKB:A0A8M6Z300 | InterPro | 1978 | |||||||
| UniProtKB:A0A8M2B5Z5 | InterPro | 2021 | |||||||
| UniProtKB:A0A8M2B6B8 | InterPro | 1764 | |||||||
| UniProtKB:A0A8M2B6G1 | InterPro | 1904 | |||||||
| UniProtKB:A0AB32T5T9 | InterPro | 2017 | |||||||
| UniProtKB:A0AB32T5W0 | InterPro | 2060 | |||||||
| UniProtKB:A0AB32T8L3 | InterPro | 1943 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA | col11a2-001 (1) | Havana | 4,052 nt | ||
| mRNA |
col11a2-201
(1)
|
Ensembl | 6,965 nt | ||
| mRNA |
col11a2-202
(1)
|
Ensembl | 1,565 nt | ||
| mRNA |
col11a2-203
(1)
|
Ensembl | 5,476 nt | ||
| mRNA |
col11a2-204
(1)
|
Ensembl | 6,544 nt |
Interactions and Pathways
No data available
Plasmids
No data available
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| Tg(col2a1a:col11a2,he1.1:mCherry) |
|
| 1 | Rebello et al., 2023 | |
| Tg(col2a1a:col11a2_R133W,he1.1:mCherry) |
|
| 1 | Rebello et al., 2023 | |
| Tg(col2a1a:col11a2_R1542L,he1.1:mCherry) |
|
| 1 | Rebello et al., 2023 | |
| Tg(nccr.abcg2c-meis1b.cne7:col11a2,he1.1:mCherry) |
|
| 1 | Rebello et al., 2023 | |
| Tg(nccr.abcg2c-meis1b.cne7:col11a2_R133W,he1.1:mCherry) |
|
| 1 | Rebello et al., 2023 | |
| Tg(nccr.abcg2c-meis1b.cne7:col11a2_R1542L,he1.1:mCherry) |
|
| 1 | Rebello et al., 2023 |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH73-198N16 | ZFIN Curated Data | |
| Contained in | BAC | CH211-51F10 | ZFIN Curated Data | |
| Contained in | Fosmid | CH1073-455J15 | ZFIN Curated Data | |
| Contained in | PAC | BUSM1-12F11 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001328265 (1) | 7325 nt | ||
| Genomic | GenBank:BX510994 (1) | 186973 nt | ||
| Polypeptide | UniProtKB:A0AB32T5W0 (1) | 2060 aa |
- Miller, B.M., Goessling, W. (2024) The proteasome subunit psmb1 is essential for craniofacial cartilage maturation and morphogenesis. JCI insight. 9(16):
- Yang, Y., Kawafi, A., Tong, Q., Kague, E., Hammond, C.L., Royall, C.P. (2024) Tuning collective behaviour in zebrafish with genetic modification. PLoS Computational Biology. 20:e1012034e1012034
- Koosha, E., Brenna, C.T.A., Ashique, A.M., Jain, N., Ovens, K., Koike, T., Kitagawa, H., Eames, B.F. (2023) Proteoglycan inhibition of canonical BMP-dependent cartilage maturation delays endochondral ossification. Development (Cambridge, England). 151(2):
- Rebello, D., Wohler, E., Erfani, V., Li, G., Aguilera, A.N., Santiago-Cornier, A., Zhao, S., Hwang, S.W., Steiner, R.D., Zhang, T.J., Gurnett, C.A., Raggio, C., Wu, N., Sobreira, N., Giampietro, P.F., Ciruna, B. (2023) COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis. Human molecular genetics. 32(19):2913-2928
- Yu, E.P.Y., Saxena, V., Perin, S., Ekker, M. (2023) Loss of dlx5a/dlx6a Locus Alters Non-Canonical Wnt Signaling and Meckel's Cartilage Morphology. Biomolecules. 13(9):
- 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
- Hawkey-Noble, A., Pater, J.A., Kollipara, R., Fitzgerald, M., Maekawa, A.S., Kovacs, C.S., Young, T.L., French, C.R. (2022) Mutation of foxl1 Results in Reduced Cartilage Markers in a Zebrafish Model of Otosclerosis. Genes. 13(7):
- 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):
- Sarohi, V., Srivastava, S., Basak, T. (2022) Comprehensive Mapping and Dynamics of Site-Specific Prolyl-Hydroxylation, Lysyl-Hydroxylation and Lysyl O-Glycosylation of Collagens Deposited in ECM During Zebrafish Heart Regeneration. Frontiers in molecular biosciences. 9:892763
- 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
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