Basic Information
ELN
Full name: elastin
Gene type: protein coding
HGNC ID: HGNC:3327
Gene location: 7q11.23
Gene resources
NCBI: https://www.ncbi.nlm.nih.gov/gene/2006
Alliance of genome: https://www.alliancegenome.org/gene/HGNC:3327
MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_000501.4
Protein resources
UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/P15502
AlphaFold: https://alphafold.ebi.ac.uk/entry/P15502
MEME motif:
Clinical resources
Pathway resources
KEGG pathway: https://www.genome.jp/pathway/hsa04974+2006
Variant resources
| Gene | Disease type | Variant type | NCBI dbSNP | Alleles | Variant location |
|---|---|---|---|---|---|
| ELN | nAMD | Intron Variant | rs2301995 | G>A | chr7:74037810 (GRCh38.p13) |
| ELN | AMD | Intron Variant | rs868005 | T>C | chr7:74030784 (GRCh38.p13) |
| ELN | AMD | Intron Variant | rs884843 | A>G | chr7:74031459 (GRCh38.p13) |
| ELN | AMD | Intron Variant | rs13239907 | G>A | chr7:74042520 (GRCh38.p13) |
| ELN | AMD | Intron Variant | rs2856728 | C>T | chr7:74056452 (GRCh38.p13) |
