| Tbio | Latent-transforming growth factor beta-binding protein 4 |
May be involved in the assembly, secretion and targeting of TGFB1 to sites at which it is stored and/or activated. May play critical roles in controlling and directing the activity of TGFB1. May have a structural role in the extracellular matrix (ECM) (By similarity).
The protein encoded by this gene binds transforming growth factor beta (TGFB) as it is secreted and targeted to the extracellular matrix. TGFB is biologically latent after secretion and insertion into the extracellular matrix, and sheds TGFB and other proteins upon activation. Defects in this gene may be a cause of cutis laxa and severe pulmonary, gastrointestinal, and urinary abnormalities. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
The protein encoded by this gene binds transforming growth factor beta (TGFB) as it is secreted and targeted to the extracellular matrix. TGFB is biologically latent after secretion and insertion into the extracellular matrix, and sheds TGFB and other proteins upon activation. Defects in this gene may be a cause of cutis laxa and severe pulmonary, gastrointestinal, and urinary abnormalities. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities | 1 | 0.0 | 0.0 |
| Neoplasm Recurrence, Local | 37 | 0.0 | 0.0 |
| glioblastoma | 5792 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| non-small cell lung cancer | 2890 | 2.5e-18 |
| lung carcinoma | 2843 | 1.6e-14 |
| lung adenocarcinoma | 2716 | 2.7e-11 |
| ovarian cancer | 8520 | 7.1e-11 |
| psoriasis | 6694 | 1.3e-10 |
| breast carcinoma | 1638 | 1.0e-05 |
| atypical teratoid / rhabdoid tumor | 5112 | 5.5e-05 |
| sonic hedgehog group medulloblastoma | 467 | 2.3e-04 |
| ductal carcinoma in situ | 1745 | 2.6e-04 |
| intraductal papillary-mucinous adenoma (IPMA) | 2955 | 5.3e-04 |
| invasive ductal carcinoma | 2951 | 4.0e-03 |
| primary pancreatic ductal adenocarcinoma | 1109 | 4.6e-03 |
| intraductal papillary-mucinous neoplasm (IPMN) | 3291 | 1.0e-02 |
| fibroadenoma | 559 | 1.4e-02 |
| inflammatory breast cancer | 286 | 2.3e-02 |
| interstitial cystitis | 2312 | 4.0e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Duchenne muscular dystrophy | 601 | 4.51 | 2.3 |
| Popliteal pterygium syndrome | 6 | 3.333 | 1.7 |
| Arterial tortuosity syndrome | 7 | 3.297 | 1.6 |
| Disease | Target Count |
|---|---|
| Cutis Laxa, Autosomal Recessive, Type 1C | 1 |
| Muscular Dystrophy, Duchenne Type | 2 |
| Disease | log2 FC | p |
|---|---|---|
| atypical teratoid / rhabdoid tumor | 1.200 | 5.5e-05 |
| breast carcinoma | -1.400 | 1.0e-05 |
| ductal carcinoma in situ | -1.700 | 2.6e-04 |
| fibroadenoma | -1.100 | 1.4e-02 |
| inflammatory breast cancer | -1.200 | 2.3e-02 |
| interstitial cystitis | -1.200 | 4.0e-02 |
| intraductal papillary-mucinous adenoma (... | -1.200 | 5.3e-04 |
| intraductal papillary-mucinous neoplasm ... | -1.100 | 1.0e-02 |
| invasive ductal carcinoma | -1.294 | 4.0e-03 |
| lung adenocarcinoma | -1.900 | 2.7e-11 |
| lung carcinoma | -1.500 | 1.6e-14 |
| non-small cell lung cancer | -1.581 | 2.5e-18 |
| ovarian cancer | -2.200 | 7.1e-11 |
| primary pancreatic ductal adenocarcinoma | 1.030 | 4.6e-03 |
| psoriasis | -1.700 | 1.3e-10 |
| sonic hedgehog group medulloblastoma | 1.500 | 2.3e-04 |
MPRPGTSGRRPLLLVLLLPLFAAATSAASPSPSPSQVVEVPGVPSRPASVAVCRCCPGQTSRRSRCIRAF 1 - 70 CRVRSCQPKKCAGPQRCLNPVPAVPSPSPSVRKRQVSLNWQPLTLQEARALLKRRRPRGPGGRGLLRRRP 71 - 140 PQRAPAGKAPVLCPLICHNGGVCVKPDRCLCPPDFAGKFCQLHSSGARPPAPAVPGLTRSVYTMPLANHR 141 - 210 DDEHGVASMVSVHVEHPQEASVVVHQVERVSGPWEEADAEAVARAEAAARAEAAAPYTVLAQSAPREDGY 211 - 280 SDASGFGYCFRELRGGECASPLPGLRTQEVCCRGAGLAWGVHDCQLCSERLGNSERVSAPDGPCPTGFER 281 - 350 VNGSCEDVDECATGGRCQHGECANTRGGYTCVCPDGFLLDSSRSSCISQHVISEAKGPCFRVLRDGGCSL 351 - 420 PILRNITKQICCCSRVGKAWGRGCQLCPPFGSEGFREICPAGPGYHYSASDLRYNTRPLGQEPPRVSLSQ 421 - 490 PRTLPATSRPSAGFLPTHRLEPRPEPRPDPRPGPELPLPSIPAWTGPEIPESGPSSGMCQRNPQVCGPGR 491 - 560 CISRPSGYTCACDSGFRLSPQGTRCIDVDECRRVPPPCAPGRCENSPGSFRCVCGPGFRAGPRAAECLDV 561 - 630 DECHRVPPPCDLGRCENTPGSFLCVCPAGYQAAPHGASCQDVDECTQSPGLCGRGACKNLPGSFRCVCPA 631 - 700 GFRGSACEEDVDECAQEPPPCGPGRCDNTAGSFHCACPAGFRSRGPGAPCQDVDECARSPPPCTYGRCEN 701 - 770 TEGSFQCVCPMGFQPNTAGSECEDVDECENHLACPGQECVNSPGSFQCRTCPSGHHLHRGRCTDVDECSS 771 - 840 GAPPCGPHGHCTNTEGSFRCSCAPGYRAPSGRPGPCADVNECLEGDFCFPHGECLNTDGSFACTCAPGYR 841 - 910 PGPRGASCLDVDECSEEDLCQSGICTNTDGSFECICPPGHRAGPDLASCLDVDECRERGPALCGSQRCEN 911 - 980 SPGSYRCVRDCDPGYHAGPEGTCDDVDECQEYGPEICGAQRCENTPGSYRCTPACDPGYQPTPGGGCQDV 981 - 1050 DECRNRSFCGAHAVCQNLPGSFQCLCDQGYEGARDGRHCVDVNECETLQGVCGAALCENVEGSFLCVCPN 1051 - 1120 SPEEFDPMTGRCVPPRTSAGTFPGSQPQAPASPVLPARPPPPPLPRRPSTPRQGPVGSGRRECYFDTAAP 1121 - 1190 DACDNILARNVTWQECCCTVGEGWGSGCRIQQCPGTETAEYQSLCPHGRGYLAPSGDLSLRRDVDECQLF 1191 - 1260 RDQVCKSGVCVNTAPGYSCYCSNGYYYHTQRLECIDNDECADEEPACEGGRCVNTVGSYHCTCEPPLVLD 1261 - 1330 GSQRRCVSNESQSLDDNLGVCWQEVGADLVCSHPRLDRQATYTECCCLYGEAWGMDCALCPAQDSDDFEA 1331 - 1400 LCNVLRPPAYSPPRPGGFGLPYEYGPDLGPPYQGLPYGPELYPPPALPYDPYPPPPGPFARREAPYGAPR 1401 - 1470 FDMPDFEDDGGPYGESEAPAPPGPGTRWPYRSRDTRRSFPEPEEPPEGGSYAGSLAEPYEELEAEECGIL 1471 - 1540 DGCTNGRCVRVPEGFTCRCFDGYRLDMTRMACVDINECDEAEAASPLCVNARCLNTDGSFRCICRPGFAP 1541 - 1610 THQPHHCAPARPRA 1611 - 1624 //
