Gene
emilin1b
- ID
- ZDB-GENE-060818-36
- Name
- elastin microfibril interfacer 1b
- Symbol
- emilin1b Nomenclature History
- Previous Names
-
- fc16f07
- wu:fc16f07
- zgc:136949 (1)
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to localize to collagen trimer and extracellular region. Is expressed in several structures, including midbrain; neurocranium; pericardial region; primitive meninx; and tail bud. Orthologous to human EMILIN1 (elastin microfibril interfacer 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Milanetto et al., 2008
- 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 |
|---|---|---|---|
| autosomal dominant distal hereditary motor neuronopathy 10 | Alliance | Neuronopathy, distal hereditary motor, autosomal dominant 10 | 620080 |
| Arterial tortuosity-bone fragility syndrome | 620908 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Collagen/C1q domain-containing | EMI domain |
|---|---|---|---|
|
UniProtKB:Q0VA81
|
415 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
emilin1b-201
(1)
|
Ensembl | 3,706 nt | ||
| mRNA |
emilin1b-202
(1)
|
Ensembl | 4,012 nt | ||
| mRNA |
emilin1b-203
(1)
|
Ensembl | 3,583 nt |
Interactions and Pathways
No data available
Plasmids
No data available