| Tbio | Peroxisome assembly factor 2 |
Involved in peroxisome biosynthesis. Required for stability of the PTS1 receptor. Anchored by PEX26 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes.
This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Zellweger syndrome | 37 | 6.636 | 3.3 |
| Deafness enamel hypoplasia nail defects | 3 | 0.0 | 0.0 |
| Intellectual disability | 1016 | 0.0 | 0.0 |
| PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) | 1 | 0.0 | 0.0 |
| PEROXISOME BIOGENESIS DISORDER 4B | 1 | 0.0 | 0.0 |
| Peroxisome biogenesis disorders | 11 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| malignant mesothelioma | 3232 | 6.1e-07 |
| medulloblastoma, large-cell | 6241 | 3.1e-05 |
| cystic fibrosis | 1696 | 5.2e-05 |
| lung adenocarcinoma | 2716 | 2.0e-04 |
| ovarian cancer | 8520 | 2.6e-03 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Amelogenesis imperfecta | 29 | 3.166 | 1.6 |
| Peroxisomal disease | 22 | 0.0 | 4.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Chondrodysplasia punctata | 41 | 3.634 | 1.8 |
| Usher syndrome | 32 | 3.455 | 1.7 |
| Disease | log2 FC | p |
|---|---|---|
| cystic fibrosis | 1.900 | 5.2e-05 |
| lung adenocarcinoma | 1.100 | 2.0e-04 |
| malignant mesothelioma | -2.000 | 6.1e-07 |
| medulloblastoma, large-cell | -1.200 | 3.1e-05 |
| ovarian cancer | 1.100 | 2.6e-03 |
MALAVLRVLEPFPTETPPLAVLLPPGGPWPAAELGLVLALRPAGESPAGPALLVAALEGPDAGTEEQGPG 1 - 70 PPQLLVSRALLRLLALGSGAWVRARAVRRPPALGWALLGTSLGPGLGPRVGPLLVRRGETLPVPGPRVLE 71 - 140 TRPALQGLLGPGTRLAVTELRGRARLCPESGDSSRPPPPPVVSSFAVSGTVRRLQGVLGGTGDSLGVSRS 141 - 210 CLRGLGLFQGEWVWVAQARESSNTSQPHLARVQVLEPRWDLSDRLGPGSGPLGEPLADGLALVPATLAFN 211 - 280 LGCDPLEMGELRIQRYLEGSIAPEDKGSCSLLPGPPFARELHIEIVSSPHYSTNGNYDGVLYRHFQIPRV 281 - 350 VQEGDVLCVPTIGQVEILEGSPEKLPRWREMFFKVKKTVGEAPDGPASAYLADTTHTSLYMVGSTLSPVP 351 - 420 WLPSEESTLWSSLSPPGLEALVSELCAVLKPRLQPGGALLTGTSSVLLRGPPGCGKTTVVAAACSHLGLH 421 - 490 LLKVPCSSLCAESSGAVETKLQAIFSRARRCRPAVLLLTAVDLLGRDRDGLGEDARVMAVLRHLLLNEDP 491 - 560 LNSCPPLMVVATTSRAQDLPADVQTAFPHELEVPALSEGQRLSILRALTAHLPLGQEVNLAQLARRCAGF 561 - 630 VVGDLYALLTHSSRAACTRIKNSGLAGGLTEEDEGELCAAGFPLLAEDFGQALEQLQTAHSQAVGAPKIP 631 - 700 SVSWHDVGGLQEVKKEILETIQLPLEHPELLSLGLRRSGLLLHGPPGTGKTLLAKAVATECSLTFLSVKG 701 - 770 PELINMYVGQSEENVREVFARARAAAPCIIFFDELDSLAPSRGRSGDSGGVMDRVVSQLLAELDGLHSTQ 771 - 840 DVFVIGATNRPDLLDPALLRPGRFDKLVFVGANEDRASQLRVLSAITRKFKLEPSVSLVNVLDCCPPQLT 841 - 910 GADLYSLCSDAMTAALKRRVHDLEEGLEPGSSALMLTMEDLLQAAARLQPSVSEQELLRYKRIQRKFAAC 911 - 980 //
