| Tbio | Fibulin-5 |
Essential for elastic fiber formation, is involved in the assembly of continuous elastin (ELN) polymer and promotes the interaction of microfibrils and ELN (PubMed:18185537). Stabilizes and organizes elastic fibers in the skin, lung and vasculature (By similarity). Promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. Vascular ligand for integrin receptors which may play a role in vascular development and remodeling (PubMed:10428823). May act as an adapter that mediates the interaction between FBN1 and ELN (PubMed:17255108).
The protein encoded by this gene is a secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains. It promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. It is prominently expressed in developing arteries but less so in adult vessels. However, its expression is reinduced in balloon-injured vessels and atherosclerotic lesions, notably in intimal vascular smooth muscle cells and endothelial cells. Therefore, the protein encoded by this gene may play a role in vascular development and remodeling. Defects in this gene are a cause of autosomal dominant cutis laxa, autosomal recessive cutis laxa type I (CL type I), and age-related macular degeneration type 3 (ARMD3). [provided by RefSeq, Jul 2008]
The protein encoded by this gene is a secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains. It promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. It is prominently expressed in developing arteries but less so in adult vessels. However, its expression is reinduced in balloon-injured vessels and atherosclerotic lesions, notably in intimal vascular smooth muscle cells and endothelial cells. Therefore, the protein encoded by this gene may play a role in vascular development and remodeling. Defects in this gene are a cause of autosomal dominant cutis laxa, autosomal recessive cutis laxa type I (CL type I), and age-related macular degeneration type 3 (ARMD3). [provided by RefSeq, Jul 2008]
Comments
| Disease | Target Count | P-value |
|---|---|---|
| non-small cell lung cancer | 2890 | 4.9e-22 |
| lung carcinoma | 2843 | 4.1e-17 |
| lung adenocarcinoma | 2716 | 5.3e-10 |
| malignant mesothelioma | 3232 | 2.5e-08 |
| adrenocortical carcinoma | 1428 | 8.9e-07 |
| lung cancer | 4740 | 1.2e-06 |
| Astrocytoma, Pilocytic | 3081 | 2.2e-06 |
| breast carcinoma | 1638 | 8.1e-06 |
| ependymoma | 4679 | 1.2e-05 |
| tuberculosis and treatment for 6 months | 409 | 2.2e-04 |
| ductal carcinoma in situ | 1745 | 3.1e-04 |
| intraductal papillary-mucinous adenoma (IPMA) | 2955 | 4.6e-04 |
| intraductal papillary-mucinous carcinoma (IPMC) | 2989 | 5.0e-04 |
| pituitary cancer | 1972 | 9.3e-04 |
| psoriasis | 6694 | 1.1e-03 |
| sonic hedgehog group medulloblastoma | 467 | 1.2e-03 |
| Atopic dermatitis | 952 | 1.9e-03 |
| non-inflammatory breast cancer | 66 | 2.0e-03 |
| invasive ductal carcinoma | 2951 | 2.6e-03 |
| intraductal papillary-mucinous neoplasm (IPMN) | 3291 | 2.7e-03 |
| pediatric high grade glioma | 1064 | 8.4e-03 |
| colon cancer | 1478 | 2.2e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Age related macular degeneration | 72 | 3.757 | 1.9 |
| Charcot-Marie-Tooth disease | 62 | 0.0 | 4.0 |
| Neuropathy | 261 | 0.0 | 4.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Basal laminar drusen | 8 | 5.158 | 2.6 |
| Tricuspid Valve Prolapse | 3 | 3.592 | 1.8 |
| Rectal prolapse | 19 | 3.079 | 1.5 |
| Disease | log2 FC | p |
|---|---|---|
| adrenocortical carcinoma | -2.697 | 8.9e-07 |
| Astrocytoma, Pilocytic | 1.700 | 2.2e-06 |
| Atopic dermatitis | -1.500 | 1.9e-03 |
| breast carcinoma | -1.900 | 8.1e-06 |
| colon cancer | -1.900 | 2.2e-02 |
| ductal carcinoma in situ | -1.900 | 3.1e-04 |
| ependymoma | 2.000 | 1.2e-05 |
| intraductal papillary-mucinous adenoma (... | -2.500 | 4.6e-04 |
| intraductal papillary-mucinous carcinoma... | -2.700 | 5.0e-04 |
| intraductal papillary-mucinous neoplasm ... | -3.000 | 2.7e-03 |
| invasive ductal carcinoma | -1.502 | 2.6e-03 |
| lung adenocarcinoma | -1.300 | 5.3e-10 |
| lung cancer | -3.300 | 1.2e-06 |
| lung carcinoma | -2.200 | 4.1e-17 |
| malignant mesothelioma | -5.400 | 2.5e-08 |
| non-inflammatory breast cancer | -1.500 | 2.0e-03 |
| non-small cell lung cancer | -2.369 | 4.9e-22 |
| pediatric high grade glioma | 1.100 | 8.4e-03 |
| pituitary cancer | -1.800 | 9.3e-04 |
| psoriasis | -1.200 | 1.1e-03 |
| sonic hedgehog group medulloblastoma | 1.300 | 1.2e-03 |
| tuberculosis and treatment for 6 months | -1.500 | 2.2e-04 |
MPGIKRILTVTILALCLPSPGNAQAQCTNGFDLDRQSGQCLDIDECRTIPEACRGDMMCVNQNGGYLCIP 1 - 70 RTNPVYRGPYSNPYSTPYSGPYPAAAPPLSAPNYPTISRPLICRFGYQMDESNQCVDVDECATDSHQCNP 71 - 140 TQICINTEGGYTCSCTDGYWLLEGQCLDIDECRYGYCQQLCANVPGSYSCTCNPGFTLNEDGRSCQDVNE 141 - 210 CATENPCVQTCVNTYGSFICRCDPGYELEEDGVHCSDMDECSFSEFLCQHECVNQPGTYFCSCPPGYILL 211 - 280 DDNRSCQDINECEHRNHTCNLQQTCYNLQGGFKCIDPIRCEEPYLRISDNRCMCPAENPGCRDQPFTILY 281 - 350 RDMDVVSGRSVPADIFQMQATTRYPGAYYIFQIKSGNEGREFYMRQTGPISATLVMTRPIKGPREIQLDL 351 - 420 EMITVNTVINFRGSSVIRLRIYVSQYPF 421 - 448 //
