| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 2006 |
Name | ELN |
Synonym | SVAS|WBS|WS;elastin;ELN;elastin |
Definition | tropoelastin |
Position | 7q11.23 |
Gene Type | protein-coding |
Pathways and Diseases | |
Pathway | Protein digestion and absorption;KEGG PATHWAY;hsa04974 |
Disease | emphysema;GAD |
Disease | brain aneurysm;GAD |
Disease | Panic disorder;FunDO |
Disease | Chronic simple glaucoma;FunDO |
Disease | Ovarian disease;FunDO |
Disease | Intracranial aneurysm;FunDO |
Disease | Subarachnoid Hemorrhage;GAD |
Disease | supravalvular aortic stenosis;GAD |
Disease | CARDIOVASCULAR;GAD |
Disease | Arteriopathy;FunDO |
Disease | Subarachnoid hemorrhage;FunDO |
Disease | Melanoma;FunDO |
Disease | Pulmonary Disease, Chronic Obstructive;GAD |
Disease | Rabies;FunDO |
Disease | carotid artery distensibility;GAD |
Disease | Ptosis;FunDO |
Disease | Skin disease, Genetic;FunDO |
Disease | Cutis laxa, AD;OMIM |
Disease | Aortic valve disease;FunDO |
Disease | Chronic obstructive airway disease;FunDO |
Disease | Supravalvar aortic stenosis;OMIM |
External Links | |
Links to Entrez Gene | 2006 |
Links to all GeneRIF Items | 2006 |
Links to iHOP | 2006 |
Sequence Information | |
Nucleotide Sequence | >2006 : length: 3967 CCTCCCTTCTGCTTCCTCTCCCGAGGGCTGTCCTGGCAGAGGCCCCCCTCGCTCTTTCTG GCGGGAACAGGGCCAGCAGCGAAAGAACAGTCGCAGAGGGAAAGCGGGAAAGAGATGGGG GAAAGTGTGTGTGTGTGAGTGTGTGCTTGTGTGCATGTGTGTGCGTGTGTGTGTCAAGGA AAAAAGCTCGCAGTCCAGCAGCCCGGGCCTGGGAGGCTTGTGAGCCGGGCCTTTCGTAAT TGTCCCCTCCCCGCGGCCCCCTCCCCCAGGCCTCCCCCCTCTCCCGCCCTCCCGCCCGCC CTCTCTCCCTCCCTCTTTCCCTCACAGCCGACGAGGCAACAATTAGGCTTTGGGGATAAA ACGAGGTGCGGAGAGCGGGCTGGGGCATTTCTCCCCGAGATGGCGGGTCTGACGGCGGCG GCCCCGCGGCCCGGAGTCCTCCTGCTCCTGCTGTCCATCCTCCACCCCTCTCGGCCTGGA GGGGTCCCTGGGGCCATTCCTGGTGGAGTTCCTGGAGGAGTCTTTTATCCAGGGGCTGGT CTCGGAGCCCTTGGAGGAGGAGCGCTGGGGCCTGGAGGCAAACCTCTTAAGCCAGTTCCC GGAGGGCTTGCGGGTGCTGGCCTTGGGGCAGGGCTCGGCGCCTTCCCCGCAGTTACCTTT CCGGGGGCTCTGGTGCCTGGTGGAGTGGCTGACGCTGCTGCAGCCTATAAAGCTGCTAAG GCTGGCGCTGGGCTTGGTGGTGTCCCAGGAGTTGGTGGCTTAGGAGTGTCTGCAGGTGCG GTGGTTCCTCAGCCTGGAGCCGGAGTGAAGCCTGGGAAAGTGCCGGGTGTGGGGCTGCCA GGTGTATACCCAGGTGGCGTGCTCCCAGGAGCTCGGTTCCCCGGTGTGGGGGTGCTCCCT GGAGTTCCCACTGGAGCAGGAGTTAAGCCCAAGGCTCCAGGTGTAGGTGGAGCTTTTGCT GGAATCCCAGGAGTTGGACCCTTTGGGGGACCGCAACCTGGAGTCCCACTGGGGTATCCC ATCAAGGCCCCCAAGCTGCCTGGTGGCTATGGACTGCCCTACACCACAGGGAAACTGCCC TATGGCTATGGGCCCGGAGGAGTGGCTGGTGCAGCGGGCAAGGCTGGTTACCCAACAGGG ACAGGGGTTGGCCCCCAGGCAGCAGCAGCAGCGGCAGCTAAAGCAGCAGCAAAGTTCGGT GCTGGAGCAGCCGGAGTCCTCCCTGGTGTTGGAGGGGCTGGTGTTCCTGGCGTGCCTGGG GCAATTCCTGGAATTGGAGGCATCGCAGGCGTTGGGACTCCAGCTGCAGCTGCAGCTGCA GCAGCAGCCGCTAAGGCAGCCAAGTATGGAGCTGCTGCAGGCTTAGTGCCTGGTGGGCCA GGCTTTGGCCCGGGAGTAGTTGGTGTCCCAGGAGCTGGCGTTCCAGGTGTTGGTGTCCCA GGAGCTGGGATTCCAGTTGTCCCAGGTGCTGGGATCCCAGGTGCTGCGGTTCCAGGGGTT GTGTCACCAGAAGCAGCTGCTAAGGCAGCTGCAAAGGCAGCCAAATACGGGGCCAGGCCC GGAGTCGGAGTTGGAGGCATTCCTACTTACGGGGTTGGAGCTGGGGGCTTTCCCGGCTTT GGTGTCGGAGTCGGAGGTATCCCTGGAGTCGCAGGTGTCCCTGGTGTCGGAGGTGTTCCC GGAGTCGGAGGTGTCCCGGGAGTTGGCATTTCCCCCGAAGCTCAGGCAGCAGCTGCCGCC AAGGCTGCCAAGTACGGTGCTGCAGGAGCAGGAGTGCTGGGTGGGCTAGTGCCAGGTGCC CCAGGCGCAGTCCCAGGTGTGCCGGGCACGGGAGGAGTGCCAGGAGTGGGGACCCCAGCA GCTGCAGCTGCTAAAGCAGCCGCCAAAGCCGCCCAGTTTGGGTTAGTTCCTGGTGTCGGC GTGGCTCCTGGAGTTGGCGTGGCTCCTGGTGTCGGTGTGGCTCCTGGAGTTGGCTTGGCT CCTGGAGTTGGCGTGGCTCCTGGAGTTGGTGTGGCTCCTGGCGTTGGCGTGGCTCCCGGC ATTGGCCCTGGTGGAGTTGCAGCTGCAGCAAAATCCGCTGCCAAGGTGGCTGCCAAAGCC CAGCTCCGAGCTGCAGCTGGGCTTGGTGCTGGCATCCCTGGACTTGGAGTTGGTGTCGGC GTCCCTGGACTTGGAGTTGGTGCTGGTGTTCCTGGACTTGGAGTTGGTGCTGGTGTTCCT GGCTTCGGGGCAGGTGCAGATGAGGGAGTTAGGCGGAGCCTGTCCCCTGAGCTCAGGGAA GGAGATCCCTCCTCCTCTCAGCACCTCCCCAGCACCCCCTCATCACCCAGGGTACCTGGA GCCCTGGCTGCCGCTAAAGCAGCCAAATATGGAGCAGCAGTGCCTGGGGTCCTTGGAGGG CTCGGGGCTCTCGGTGGAGTAGGCATCCCAGGCGGTGTGGTGGGAGCCGGACCCGCCGCC GCCGCTGCCGCAGCCAAAGCTGCTGCCAAAGCCGCCCAGTTTGGCCTAGTGGGAGCCGCT GGGCTCGGAGGACTCGGAGTCGGAGGGCTTGGAGTTCCAGGTGTTGGGGGCCTTGGAGGT ATACCTCCAGCTGCAGCCGCTAAAGCAGCTAAATACGGTGCTGCTGGCCTTGGAGGTGTC CTAGGGGGTGCCGGGCAGTTCCCACTTGGAGGAGTGGCAGCAAGACCTGGCTTCGGATTG TCTCCCATTTTCCCAGGTGGGGCCTGCCTGGGGAAAGCTTGTGGCCGGAAGAGAAAATGA GCTTCCTAGGACCCCTGACTCACGACCTCATCAACGTTGGTGCTACTGCTTGGTGGAGAA TGTAAACCCTTTGTAACCCCATCCCATGCCCCTCCGACTCCCCACCCCAGGAGGGAACGG GCAGGCCGGGCGGCCTTGCAGATCCACAGGGCAAGGAAACAAGAGGGGAGCGGCCAAGTG CCCCGACCAGGAGGCCCCCTACTTCAGAGGCAAGGGCCATGTGGTCCTGGCCCCCCACCC CATCCCTTCCCACCTAGGAGCTCCCCCTCCACACAGCCTCCATCTCCAGGGGAACTTGGT GCTACACGCTGGTGCTCTTATCTTCCTGGGGGGAGGGAGGAGGGAAGGGTGGCCCCTCGG GGAACCCCCTACCTGGGGCTCCTCTAAAGATGGTGCAGACACTTCCTGGGCAGTCCCAGC TCCCCCTGCCCACCAGGACCCACCGTTGGCTGCCATCCAGTTGGTACCCAAGCACCTGAA GCCTCAAAGCTGGATTCGCTCTAGCATCCCTCCTCTCCTGGGTCCACTTGGCCGTCTCCT CCCCACCGATCGCTGTTCCCCACATCTGGGGCGCTTTTGGGTTGGAAAACCACCCCACAC TGGGAATAGCCACCTTGCCCTTGTAGAATCCATCCGCCCATCCGTCCATTCATCCATCGG TCCGTCCATCCATGTCCCCAGTTGACCGCCCGGCACCACTAGCTGGCTGGGTGCACCCAC CATCAACCTGGTTGACCTGTCATGGCCGCCTGTGCCCTGCCTCCACCCCCATCCTACACT CCCCCAGGGCGTGCGGGGCTGTGCAGACTGGGGTGCCAGGCATCTCCTCCCCACCCGGGG TGTCCCCACATGCAGTACTGTATACCCCCCATCCCTCCCTCGGTCCACTGAACTTCAGAG CAGTTCCCATTCCTGCCCCGCCCATCTTTTTGTGTCTCGCTGTGATAGATCAATAAATAT TTTATTTTTTGTCCTGGATATTTGGGGATTATTTTTGATTGTTGATATTCTCTTTTGGTT TTATTGTTGTGGTTCATTGAAAAAAAAAGATAATTTTTTTTTCTGATCCGGGGAGCTGTA TCCCCAGTAGAAAAAACATTTTAATCACTCTAATATAACTCTGGATGAAACACACCTTTT TTTTTAATAAGAAAAGAGAATTAACTGCTTCAGAAATGACTAATAAATGAAAAACCTTTA AAGGAAA |
Protein Sequence | >2006 : length: 786 MAGLTAAAPRPGVLLLLLSILHPSRPGGVPGAIPGGVPGGVFYPGAGLGALGGGALGPGG KPLKPVPGGLAGAGLGAGLGAFPAVTFPGALVPGGVADAAAAYKAAKAGAGLGGVPGVGG LGVSAGAVVPQPGAGVKPGKVPGVGLPGVYPGGVLPGARFPGVGVLPGVPTGAGVKPKAP GVGGAFAGIPGVGPFGGPQPGVPLGYPIKAPKLPGGYGLPYTTGKLPYGYGPGGVAGAAG KAGYPTGTGVGPQAAAAAAAKAAAKFGAGAAGVLPGVGGAGVPGVPGAIPGIGGIAGVGT PAAAAAAAAAAKAAKYGAAAGLVPGGPGFGPGVVGVPGAGVPGVGVPGAGIPVVPGAGIP GAAVPGVVSPEAAAKAAAKAAKYGARPGVGVGGIPTYGVGAGGFPGFGVGVGGIPGVAGV PGVGGVPGVGGVPGVGISPEAQAAAAAKAAKYGAAGAGVLGGLVPGAPGAVPGVPGTGGV PGVGTPAAAAAKAAAKAAQFGLVPGVGVAPGVGVAPGVGVAPGVGLAPGVGVAPGVGVAP GVGVAPGIGPGGVAAAAKSAAKVAAKAQLRAAAGLGAGIPGLGVGVGVPGLGVGAGVPGL GVGAGVPGFGAGADEGVRRSLSPELREGDPSSSQHLPSTPSSPRVPGALAAAKAAKYGAA VPGVLGGLGALGGVGIPGGVVGAGPAAAAAAAKAAAKAAQFGLVGAAGLGGLGVGGLGVP GVGGLGGIPPAAAAKAAKYGAAGLGGVLGGAGQFPLGGVAARPGFGLSPIFPGGACLGKA CGRKRK |