ZFIN is now using GRCz12tu for Genomic Data
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
- Genome Assembly
- GRCz12tu
- Annotation Status
- Unknown
- Description
- Acts upstream of or within regeneration and regulation of axon regeneration. Predicted to be located in extracellular region. Predicted to be part of FACIT collagen trimer. Is expressed in trunk. Human ortholog(s) of this gene implicated in Bethlem myopathy 2 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
- 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 |
|---|---|---|---|
| Bethlem myopathy 2 | Alliance | Bethlem myopathy 2 | 616471 |
| Ullrich congenital muscular dystrophy 2 | Alliance | ?Ullrich congenital muscular dystrophy 2 | 616470 |
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
No data available
- Genome Browsers
| 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
- Genome Browsers