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. Human ortholog(s) of this gene implicated in several diseases, including aortic disease (multiple); cutis laxa (multiple); retinal disease (multiple); rheumatic disease (multiple); and vasculitis (multiple). Is expressed in cranium; heart; nervous system; swim bladder; and ventral aorta. Orthologous to human ELN (elastin).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 13 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Moriyama et al., 2016
- 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
No data available
Domain Details Per Protein
Protein | Length |
---|---|
UniProtKB:A0A8M6YSC6
|
1210 |
UniProtKB:A0A8M6Z1D8
|
1198 |
UniProtKB:A0A8M6YSD1
|
1197 |
UniProtKB:A0A8N1TQS2
|
1164 |
UniProtKB:A0A8M9Q0K7
|
1198 |
UniProtKB:A0A8M6YUV6
|
1119 |
UniProtKB:A0A8M6Z0Q8
|
1208 |
UniProtKB:A0A8M6YSD6
|
1119 |
UniProtKB:A0A8M6YT25
|
1212 |
UniProtKB:A0A8M3AGY9
|
1149 |
UniProtKB:A0A8M6YT42
|
1016 |
UniProtKB:A0A8M6YUV1
|
1204 |
UniProtKB:A0A8M9QC60
|
1073 |
UniProtKB:A0A8M6YUU6
|
1210 |
UniProtKB:A0A8M9QHD9
|
1002 |
UniProtKB:A0A8M6YT31
|
1207 |
UniProtKB:A0A8M6Z1D3
|
1210 |
UniProtKB:A0A8M6Z0R1
|
1169 |
UniProtKB:A0A8M6YT37
|
1162 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance