| Tbio | Protein disulfide-isomerase TMX3 |
Probable disulfide isomerase, which participates in the folding of proteins containing disulfide bonds. May act as a dithiol oxidase.
This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The canonical protein encoded by this gene has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, one transmembrane domain and a C-terminal ER-retention sequence. This gene is expressed in many tissues but has its highest expression in heart and skeletal muscle. It is expressed in the retinal neuroepithelium and lens epithelium in the developing murine eye and haploinsufficiency of this gene in humans and zebrafish is associated with microphthalmia. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2017]
This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The canonical protein encoded by this gene has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, one transmembrane domain and a C-terminal ER-retention sequence. This gene is expressed in many tissues but has its highest expression in heart and skeletal muscle. It is expressed in the retinal neuroepithelium and lens epithelium in the developing murine eye and haploinsufficiency of this gene in humans and zebrafish is associated with microphthalmia. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2017]
Comments
| Disease | Target Count | P-value |
|---|---|---|
| juvenile dermatomyositis | 1187 | 4.9e-11 |
| ovarian cancer | 8520 | 7.6e-08 |
| intraductal papillary-mucinous neoplasm (IPMN) | 3291 | 1.1e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Attention deficit hyperactivity disorder | 278 | 0.0 | 1.2 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Trichinosis | 7 | 3.883 | 1.9 |
| Congenital diaphragmatic hernia | 67 | 3.088 | 1.5 |
| Disease | log2 FC | p |
|---|---|---|
| intraductal papillary-mucinous neoplasm ... | 1.300 | 1.1e-02 |
| juvenile dermatomyositis | 1.261 | 4.9e-11 |
| ovarian cancer | -2.600 | 7.6e-08 |
MAAWKSWTALRLCATVVVLDMVVCKGFVEDLDESFKENRNDDIWLVDFYAPWCGHCKKLEPIWNEVGLEM 1 - 70 KSIGSPVKVGKMDATSYSSIASEFGVRGYPTIKLLKGDLAYNYRGPRTKDDIIEFAHRVSGALIRPLPSQ 71 - 140 QMFEHMQKRHRVFFVYVGGESPLKEKYIDAASELIVYTYFFSASEEVVPEYVTLKEMPAVLVFKDETYFV 141 - 210 YDEYEDGDLSSWINRERFQNYLAMDGFLLYELGDTGKLVALAVIDEKNTSVEHTRLKSIIQEVARDYRDL 211 - 280 FHRDFQFGHMDGNDYINTLLMDELTVPTVVVLNTSNQQYFLLDRQIKNVEDMVQFINNILDGTVEAQGGD 281 - 350 SILQRLKRIVFDAKSTIVSIFKSSPLMGCFLFGLPLGVISIMCYGIYTADTDGGYIEERYEVSKSENENQ 351 - 420 EQIEESKEQQEPSSGGSVVPTVQEPKDVLEKKKD 421 - 454 //
