| Tbio | Elastin |
Major structural protein of tissues such as aorta and nuchal ligament, which must expand rapidly and recover completely. Molecular determinant of the late arterial morphogenesis, stabilizing arterial structure by regulating proliferation and organization of vascular smooth muscle (By similarity).
This gene encodes a protein that is one of the two components of elastic fibers. Elastic fibers comprise part of the extracellular matrix and confer elasticity to organs and tissues including the heart, skin, lungs, ligaments, and blood vessels. The encoded protein is rich in hydrophobic amino acids such as glycine and proline, which form mobile hydrophobic regions bounded by crosslinks between lysine residues. Degradation products of the encoded protein, known as elastin-derived peptides or elastokines, bind the elastin receptor complex and other receptors and stimulate migration and proliferation of monocytes and skin fibroblasts. Elastokines can also contribute to cancer progression. Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. [provided by RefSeq, Aug 2017]
This gene encodes a protein that is one of the two components of elastic fibers. Elastic fibers comprise part of the extracellular matrix and confer elasticity to organs and tissues including the heart, skin, lungs, ligaments, and blood vessels. The encoded protein is rich in hydrophobic amino acids such as glycine and proline, which form mobile hydrophobic regions bounded by crosslinks between lysine residues. Degradation products of the encoded protein, known as elastin-derived peptides or elastokines, bind the elastin receptor complex and other receptors and stimulate migration and proliferation of monocytes and skin fibroblasts. Elastokines can also contribute to cancer progression. Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. [provided by RefSeq, Aug 2017]
Comments
| Disease | Target Count | P-value |
|---|---|---|
| Duchenne muscular dystrophy | 601 | 3.5e-09 |
| adult high grade glioma | 3801 | 1.0e-05 |
| cystic fibrosis | 1696 | 2.4e-05 |
| glioblastoma | 5792 | 1.2e-03 |
| primary pancreatic ductal adenocarcinoma | 1109 | 3.1e-03 |
| medulloblastoma, large-cell | 6241 | 5.2e-03 |
| Astrocytoma, Pilocytic | 3081 | 1.0e-02 |
| intraductal papillary-mucinous neoplasm (IPMN) | 3291 | 1.2e-02 |
| oligodendroglioma | 2850 | 1.3e-02 |
| astrocytic glioma | 2597 | 1.4e-02 |
| psoriasis | 6694 | 1.4e-02 |
| Gaucher disease type 3 | 67 | 1.5e-02 |
| medulloblastoma | 720 | 1.8e-02 |
| invasive ductal carcinoma | 2951 | 2.4e-02 |
| ependymoma | 4679 | 4.8e-02 |
| Disease | Target Count |
|---|---|
| Williams-Beuren syndrome | 50 |
| Autosomal dominant cutis laxa | 3 |
| Supravalvar aortic stenosis | 1 |
| Disease | log2 FC | p |
|---|---|---|
| adult high grade glioma | 2.300 | 1.0e-05 |
| astrocytic glioma | 1.200 | 1.4e-02 |
| Astrocytoma, Pilocytic | 1.300 | 1.0e-02 |
| cystic fibrosis | -1.573 | 2.4e-05 |
| Duchenne muscular dystrophy | 1.273 | 3.5e-09 |
| ependymoma | 2.700 | 4.8e-02 |
| Gaucher disease type 3 | 2.100 | 1.5e-02 |
| glioblastoma | 1.300 | 1.2e-03 |
| intraductal papillary-mucinous neoplasm ... | -1.100 | 1.2e-02 |
| invasive ductal carcinoma | -1.700 | 2.4e-02 |
| medulloblastoma | 1.300 | 1.8e-02 |
| medulloblastoma, large-cell | 1.300 | 5.2e-03 |
| oligodendroglioma | 1.300 | 1.3e-02 |
| primary pancreatic ductal adenocarcinoma | 1.566 | 3.1e-03 |
| psoriasis | -1.400 | 1.4e-02 |
MAGLTAAAPRPGVLLLLLSILHPSRPGGVPGAIPGGVPGGVFYPGAGLGALGGGALGPGGKPLKPVPGGL 1 - 70 AGAGLGAGLGAFPAVTFPGALVPGGVADAAAAYKAAKAGAGLGGVPGVGGLGVSAGAVVPQPGAGVKPGK 71 - 140 VPGVGLPGVYPGGVLPGARFPGVGVLPGVPTGAGVKPKAPGVGGAFAGIPGVGPFGGPQPGVPLGYPIKA 141 - 210 PKLPGGYGLPYTTGKLPYGYGPGGVAGAAGKAGYPTGTGVGPQAAAAAAAKAAAKFGAGAAGVLPGVGGA 211 - 280 GVPGVPGAIPGIGGIAGVGTPAAAAAAAAAAKAAKYGAAAGLVPGGPGFGPGVVGVPGAGVPGVGVPGAG 281 - 350 IPVVPGAGIPGAAVPGVVSPEAAAKAAAKAAKYGARPGVGVGGIPTYGVGAGGFPGFGVGVGGIPGVAGV 351 - 420 PGVGGVPGVGGVPGVGISPEAQAAAAAKAAKYGAAGAGVLGGLVPGPQAAVPGVPGTGGVPGVGTPAAAA 421 - 490 AKAAAKAAQFGLVPGVGVAPGVGVAPGVGVAPGVGLAPGVGVAPGVGVAPGVGVAPGIGPGGVAAAAKSA 491 - 560 AKVAAKAQLRAAAGLGAGIPGLGVGVGVPGLGVGAGVPGLGVGAGVPGFGAGADEGVRRSLSPELREGDP 561 - 630 SSSQHLPSTPSSPRVPGALAAAKAAKYGAAVPGVLGGLGALGGVGIPGGVVGAGPAAAAAAAKAAAKAAQ 631 - 700 FGLVGAAGLGGLGVGGLGVPGVGGLGGIPPAAAAKAAKYGAAGLGGVLGGAGQFPLGGVAARPGFGLSPI 701 - 770 FPGGACLGKACGRKRK 771 - 786 //
