| General information | Literature | Expression | Regulation | Variant | Interaction |
|
Basic Information |
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|---|---|
Gene ID | 2006 |
Name | ELN |
Synonym | SVAS|WBS|WS;elastin;ELN;elastin |
Definition | tropoelastin |
Position | 7q11.23 |
Gene Type | protein-coding |
|
PAH Type |
Description |
PH | Elastin insufficiency predisposes to elevated pulmonary circulatory pressures through changes in elastic artery structure. |
| More detail of all Mouse literatures about ELN | |
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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 |
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External Links |
|
Links to Entrez Gene | 2006 |
Links to all GeneRIF Items | 2006 |
Links to iHOP | 2006 |
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Sequence Information |
|
Nucleotide Sequence |
>2006 : length: 2175 atggcgggtctgacggcggcggccccgcggcccggagtcctcctgctcctgctgtccatc ctccacccctctcggcctggaggggtccctggggccattcctggtggagttcctggagga gtcttttatccaggggctggtctcggagcccttggaggaggagcgctggggcctggaggc aaacctcttaagccagttcccggagggcttgcgggtgctggccttggggcagggctcggc gccttccccgcagttacctttccgggggctctggtgcctggtggagtggctgacgctgct gcagcctataaagctgctaaggctggcgctgggcttggtggtgtcccaggagttggtggc ttaggagtgtctgcaggtgcggtggttcctcagcctggagccggagtgaagcctgggaaa gtgccgggtgtggggctgccaggtgtatacccaggtggcgtgctcccaggagctcggttc cccggtgtgggggtgctccctggagttcccactggagcaggagttaagcccaaggctcca ggtgtaggtggagcttttgctggaatcccaggagttggaccctttgggggaccgcaacct ggagtcccactggggtatcccatcaaggcccccaagctgcctggtggctatggactgccc tacaccacagggaaactgccctatggctatgggcccggaggagtggctggtgcagcgggc aaggctggttacccaacagggacaggggttggcccccaggcagcagcagcagcggcagct aaagcagcagcaaagttcggtgctggagcagccggagtcctccctggtgttggaggggct ggtgttcctggcgtgcctggggcaattcctggaattggaggcatcgcaggcgttgggact ccagctgcagctgcagctgcagcagcagccgctaaggcagccaagtatggagctgctgca ggcttagtgcctggtgggccaggctttggcccgggagtagttggtgtcccaggagctggc gttccaggtgttggtgtcccaggagctgggattccagttgtcccaggtgctgggatccca ggtgctgcggttccaggggttgtgtcaccagaagcagctgctaaggcagctgcaaaggca gccaaatacggggccaggcccggagtcggagttggaggcattcctacttacggggttgga gctgggggctttcccggctttggtgtcggagtcggaggtatccctggagtcgcaggtgtc cctggtgtcggaggtgttcccggagtcggaggtgtcccgggagttggcatttcccccgaa gctcaggcagcagctgccgccaaggctgccaagtacggagtggggaccccagcagctgca gctgctaaagcagccgccaaagccgcccagtttgggttagttcctggtgtcggcgtggct cctggagttggcgtggctcctggtgtcggtgtggctcctggagttggcttggctcctgga gttggcgtggctcctggagttggtgtggctcctggcgttggcgtggctcccggcattggc cctggtggagttgcagctgcagcaaaatccgctgccaaggtggctgccaaagcccagctc cgagctgcagctgggcttggtgctggcatccctggacttggagttggtgtcggcgtccct ggacttggagttggtgctggtgttcctggacttggagttggtgctggtgttcctggcttc ggggcagtacctggagccctggctgccgctaaagcagccaaatatggagcagcagtgcct ggggtccttggagggctcggggctctcggtggagtaggcatcccaggcggtgtggtggga gccggacccgccgccgccgctgccgcagccaaagctgctgccaaagccgcccagtttggc ctagtgggagccgctgggctcggaggactcggagtcggagggcttggagttccaggtgtt gggggccttggaggtatacctccagctgcagccgctaaagcagctaaatacggtgctgct ggccttggaggtgtcctagggggtgccgggcagttcccacttggaggagtggcagcaaga cctggcttcggattgtctcccattttcccaggtggggcctgcctggggaaagcttgtggc cggaagagaaaatga |
Protein Sequence |
>2006 : length: 724 MAGLTAAAPRPGVLLLLLSILHPSRPGGVPGAIPGGVPGGVFYPGAGLGALGGGALGPGG KPLKPVPGGLAGAGLGAGLGAFPAVTFPGALVPGGVADAAAAYKAAKAGAGLGGVPGVGG LGVSAGAVVPQPGAGVKPGKVPGVGLPGVYPGGVLPGARFPGVGVLPGVPTGAGVKPKAP GVGGAFAGIPGVGPFGGPQPGVPLGYPIKAPKLPGGYGLPYTTGKLPYGYGPGGVAGAAG KAGYPTGTGVGPQAAAAAAAKAAAKFGAGAAGVLPGVGGAGVPGVPGAIPGIGGIAGVGT PAAAAAAAAAAKAAKYGAAAGLVPGGPGFGPGVVGVPGAGVPGVGVPGAGIPVVPGAGIP GAAVPGVVSPEAAAKAAAKAAKYGARPGVGVGGIPTYGVGAGGFPGFGVGVGGIPGVAGV PGVGGVPGVGGVPGVGISPEAQAAAAAKAAKYGVGTPAAAAAKAAAKAAQFGLVPGVGVA PGVGVAPGVGVAPGVGLAPGVGVAPGVGVAPGVGVAPGIGPGGVAAAAKSAAKVAAKAQL RAAAGLGAGIPGLGVGVGVPGLGVGAGVPGLGVGAGVPGFGAVPGALAAAKAAKYGAAVP GVLGGLGALGGVGIPGGVVGAGPAAAAAAAKAAAKAAQFGLVGAAGLGGLGVGGLGVPGV GGLGGIPPAAAAKAAKYGAAGLGGVLGGAGQFPLGGVAARPGFGLSPIFPGGACLGKACG RKRK |