| The Chromosome 7 Annotation Project |
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| Gene / Transcript Structure |
| General information |
| Class | Known_Gene |
| TCAG Gene ID | GA0087 [Old ID: HSC7000087] |
| Gene Symbol | ELN [HUGO ID: ELN] |
| Gene Name | Elastin (supravalvular aortic stenosis, Williams-Beuren syndrome) |
| Synonyms | SVAS, WBS, WS |
| Omim | Elastin | 130160 |
| Phenotype | Cutis laxa, AD [123700] Supravalvar aortic stenosis [185500] Williams-Beuren syndrome [194050] |
| Gene Ontology | ●Biological process Biological_process unknown [GO:0000004] ●Cellular component Extracellular matrix [GO:0005578] Extracellular matrix [GO:0005578] ●Molecular function Extracellular matrix constituent conferring elasticity [GO:0030023] Extracellular matrix structural constituent [GO:0005201] |
| Transcript | ELN | T00084 | M36860.1 ELN_transcript_variant_1 | T02798 | AK075494.1 ELN_transcript_variant_2 | T02799 | AK075554.1 ELN_transcript_variant_3 | T02800 | AK130894.1 ELN_transcript_variant_4 | T02801 | AK095990.1 ELN_transcript_variant_5 | T02802 | BC050379.1 |
| External links |
| LocusLink | 2006 |
| RefSeq | NM_000501 | NP_000492 |
| GenBank | M16983 [genome] M17265 [genome] M17266 [genome] M17267 [genome] M17268 [genome] M17269 [genome] M17270 [genome] M17271 [genome] M17272 [genome] M17273 [genome] M17274 [genome] M17275 [genome] M17276 [genome] M17277 [genome] M17278 [genome] M17279 [genome] M17280 [genome] M17281 [genome] M17282 [genome] U77846 [genome] U93037 [genome] AK075554 [mRNA] AK092232 [mRNA] AK094138 [mRNA] AK122731 [mRNA] BC065566 [mRNA] BX537939 [mRNA] BX538199 [mRNA] M24782 [mRNA] M36860 [mRNA] X52896 [mRNA] |
| PubMed | 15036271, 15009703, 14702039, 14500713, 12690215, 12679320, 12555228, 12477932, 12102453, 12029074, 12016585, 11911775, 11809415, 9873040, 9607766, 9580666, 8096434, 7693128, 3171221, 3039501, 3038460, 2831431, 2014796 |
| ABI Gene Expression "Assays-on-Demand" | Hs00355783_m1 |
| Affymetrix GeneChip | U133A U95A|31621_s_at U95A|39098_at |
| Transcript Sequence(s) |
Note: Some data originated from NCBI's LocusLink.