ZFIN is now using GRCz12tu for Genomic Data
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
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- 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 immature eye; 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
- 23 figures from 14 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
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 |
- Genome Browsers
| 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
- Genome Browsers