Gene
col12a1b
- ID
- ZDB-GENE-120215-116
- Name
- collagen, type XII, alpha 1b
- Symbol
- col12a1b Nomenclature History
- Previous Names
-
- si:ch211-106k22.1 (1)
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Involved in regeneration and regulation of axon regeneration. Predicted to localize to collagen-containing extracellular matrix and extracellular space. Human ortholog(s) of this gene implicated in Ullrich congenital muscular dystrophy. Orthologous to human COL12A1 (collagen type XII alpha 1 chain).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 7 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
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 |
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 |
| Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
| Homologous_superfamily | IPR036116 | Fibronectin type III superfamily |
| Homologous_superfamily | IPR036465 | von Willebrand factor A-like domain superfamily |
| Repeat | IPR008160 | Collagen triple helix repeat |
Domain Details Per Protein
| Protein | 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:A0A8M6Z3F3
|
3646 | |||||||||
|
UniProtKB:A0A8M6YUY1
|
3653 | |||||||||
|
UniProtKB:A0A8M9P340
|
2487 | |||||||||
|
UniProtKB:A0A8M6YUB5
|
3615 | |||||||||
|
UniProtKB:A0A8M6YWS8
|
3650 | |||||||||
|
UniProtKB:A0A8M6Z2U2
|
3472 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
col12a1b-201
(1)
|
Ensembl | 10,932 nt | ||
| mRNA |
col12a1b-202
(1)
|
Ensembl | 721 nt | ||
| mRNA |
col12a1b-203
(1)
|
Ensembl | 7,011 nt |
Interactions and Pathways
No data available
Plasmids
No data available