Gene
elna
- ID
- ZDB-GENE-061212-1
- Name
- elastin a
- Symbol
- elna Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to have extracellular matrix structural constituent. Predicted to localize to collagen-containing extracellular matrix. Is expressed in cranium; heart; nervous system; swim bladder; and ventral aorta. Human ortholog(s) of this gene implicated in several diseases, including aortic disease (multiple); autoimmune disease of musculoskeletal system (multiple); cutis laxa (multiple); retinal disease (multiple); and vasculitis (multiple). Orthologous to human ELN (elastin).
- Genome Resources
- Note
- None
- All Expression Data
- 11 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
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 cutis laxa 1 | Alliance | Cutis laxa, autosomal dominant | 123700 |
supravalvular aortic stenosis | Alliance | Supravalvar aortic stenosis | 185500 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Family | IPR003979 | Tropoelastin |
Domain Details Per Protein
Protein | Length | Tropoelastin |
---|---|---|
UniProtKB:A0A2R4FXL9
|
267 | |
UniProtKB:A0A2R4FXL7
|
194 | |
UniProtKB:A0A2R4FXJ8
|
387 | |
UniProtKB:Q0Q5Z1
|
1164 | |
UniProtKB:A0A2R4FXP6
|
194 | |
UniProtKB:A0A2R4FXM5
|
179 | |
UniProtKB:A0A2R4FXL8
|
168 | |
UniProtKB:A0A2R4FXM3
|
179 | |
UniProtKB:A0A2R4FXM6
|
194 | |
UniProtKB:A0A2R4FXL6
|
128 | |
UniProtKB:A0A2R4FXJ9
|
148 | |
UniProtKB:A0A2R4FXN8
|
273 | |
UniProtKB:A0A2R4FXJ1
|
457 | |
UniProtKB:A0A2R4FXJ2
|
211 | |
UniProtKB:A0A2R4FXP2
|
73 | |
UniProtKB:A0A2R4FXK0
|
126 | |
UniProtKB:A0A2R4FXN6
|
136 | |
UniProtKB:A0A2R4FXN2
|
179 | |
UniProtKB:A0A2R4FXP3
|
275 | |
UniProtKB:A0A2R4FXK8
|
104 | |
UniProtKB:A0A2R4FXK7
|
446 | |
UniProtKB:A0A2R4FXL2
|
257 | |
UniProtKB:A0A2R4FXN3
|
265 | |
UniProtKB:A0A2R4FXK3
|
264 | |
UniProtKB:A0A2R4FXN0
|
277 | |
UniProtKB:A0A2R4FXN4
|
360 | |
UniProtKB:A0A2R4FXH6
|
265 | |
UniProtKB:A0A2R4FXM0
|
360 | |
UniProtKB:A0A2R4FXM8
|
360 | |
UniProtKB:A0A2R4FXK1
|
104 | |
UniProtKB:A0A2R4FXJ7
|
260 | |
UniProtKB:A0A2R4FXM7
|
287 | |
UniProtKB:A0A2R4FXL3
|
324 | |
UniProtKB:A0A2R4FXM1
|
128 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available