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
- 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. Human ortholog(s) of this gene implicated in Bethlem myopathy and 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