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 be an extracellular matrix structural constituent. Predicted to be located in extracellular region. Is expressed in cranium; heart; nervous system; swim bladder; and ventral aorta. Human ortholog(s) of this gene implicated in several diseases, including Williams-Beuren syndrome; aortic disease (multiple); autoimmune disease (multiple); cutis laxa (multiple); and retinal disease (multiple). Orthologous to human ELN (elastin).
- Genome Resources
- Note
-
No known match in Ensembl GRCz11. Spans a lincRNA gene ENSDARG00000117256.
- Comparative Information
-
- All Expression Data
- 14 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa11039 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa12235 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa17177 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa28377 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa32006 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa42459 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa42460 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa42461 | Allele with one point mutation | Unknown | Splice Site | ENU |
1 - 8 of 8
Show
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 |
1 - 2 of 2
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR003979 | Tropoelastin |
1 - 1 of 1
Domain Details Per Protein
| Protein | Additional Resources | Length | Tropoelastin |
|---|---|---|---|
| UniProtKB:A0A8M6YSC6 | InterPro | 1210 | |
| UniProtKB:A0A8M6Z1D8 | InterPro | 1198 | |
| UniProtKB:A0A8M6YSD1 | InterPro | 1197 | |
| UniProtKB:A0A8N1TQS2 | InterPro | 1164 | |
| UniProtKB:A0A8M9Q0K7 | InterPro | 1198 |
1 - 5 of 29 Show all
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
No data available
- Comparative Orthology
- Alliance