| Tbio | Sphingolipid delta(4)-desaturase/C4-monooxygenase DES2 |
Bifunctional enzyme which acts as both a sphingolipid delta(4)-desaturase and a sphingolipid C4-monooxygenase.
This gene encodes a bifunctional enzyme that is involved in the biosynthesis of phytosphingolipids in human skin and in other phytosphingolipid-containing tissues. This enzyme can act as a sphingolipid delta(4)-desaturase, and also as a sphingolipid C4-hydroxylase. [provided by RefSeq, Oct 2008]
This gene encodes a bifunctional enzyme that is involved in the biosynthesis of phytosphingolipids in human skin and in other phytosphingolipid-containing tissues. This enzyme can act as a sphingolipid delta(4)-desaturase, and also as a sphingolipid C4-hydroxylase. [provided by RefSeq, Oct 2008]
Comments
| Disease | Target Count |
|---|---|
| Sudden Cardiac Arrest | 16 |
| Disease | Target Count | P-value |
|---|---|---|
| posterior fossa group A ependymoma | 1511 | 1.3e-06 |
| glioblastoma | 5572 | 1.1e-05 |
| atypical teratoid / rhabdoid tumor | 4369 | 2.8e-05 |
| pilocytic astrocytoma | 3086 | 4.4e-05 |
| interstitial cystitis | 2299 | 4.8e-05 |
| medulloblastoma | 1524 | 1.1e-04 |
| adult high grade glioma | 2148 | 1.7e-04 |
| breast carcinoma | 1614 | 3.3e-04 |
| medulloblastoma, large-cell | 6234 | 1.1e-03 |
| ductal carcinoma in situ | 1745 | 2.9e-03 |
| intraductal papillary-mucinous adenoma (IPMA) | 2956 | 1.0e-02 |
| invasive ductal carcinoma | 2950 | 1.1e-02 |
| facioscapulohumeral dystrophy | 286 | 5.0e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Heart disease | 279 | 0.0 | 2.0 |
| Disease | log2 FC | p |
|---|---|---|
| glioblastoma | -1.500 | 1.1e-05 |
| atypical teratoid / rhabdoid tumor | -1.300 | 2.8e-05 |
| medulloblastoma | -1.200 | 1.1e-04 |
| medulloblastoma, large-cell | -1.300 | 1.1e-03 |
| intraductal papillary-mucinous adenoma (... | 1.600 | 1.0e-02 |
| breast carcinoma | 1.100 | 3.3e-04 |
| interstitial cystitis | -1.900 | 4.8e-05 |
| adult high grade glioma | -1.600 | 1.7e-04 |
| pilocytic astrocytoma | -1.200 | 4.4e-05 |
| posterior fossa group A ependymoma | -1.100 | 1.3e-06 |
| ductal carcinoma in situ | 1.400 | 2.9e-03 |
| invasive ductal carcinoma | 1.100 | 1.1e-02 |
| facioscapulohumeral dystrophy | 1.600 | 5.0e-02 |
| PMID | Text | |
|---|---|---|
| 25871975 | Findings demonstrate that a SNP showing genome-wide association study significant association with cognition in schizophrenia is also associated with regulation of DEGS2 expression, implicating a molecular mechanism for the clinical association. | |
| 21914808 | overexpression of DEGS1 or DEGS2 attenuates the DHC accumulation and increased cell proliferation during hypoxia | |
| 20677014 | Observational study of gene-disease association. (HuGE Navigator) | |
| 15063729 | DES2 was identified and its up-regulation followed during keratinocyte differentiation. |
MGNSASRSDFEWVYTDQPHTQRRKEILAKYPAIKALMRPDPRLKWAVLVLVLVQMLACWLVRGLAWRWLL 1 - 70 FWAYAFGGCVNHSLTLAIHDISHNAAFGTGRAARNRWLAVFANLPVGVPYAASFKKYHVDHHRYLGGDGL 71 - 140 DVDVPTRLEGWFFCTPARKLLWLVLQPFFYSLRPLCVHPKAVTRMEVLNTLVQLAADLAIFALWGLKPVV 141 - 210 YLLASSFLGLGLHPISGHFVAEHYMFLKGHETYSYYGPLNWITFNVGYHVEHHDFPSIPGYNLPLVRKIA 211 - 280 PEYYDHLPQHHSWVKVLWDFVFEDSLGPYARVKRVYRLAKDGL 281 - 323 //
| PMID | Year | Title | |
|---|---|---|---|
| 25871975 | 2015 | DEGS2 polymorphism associated with cognition in schizophrenia is associated with gene expression in brain. | |
| 21914808 | 2011 | Dihydroceramide-based response to hypoxia. | |
| 21658281 | 2011 | GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. | |
| 20677014 | 2010 | An approach based on a genome-wide association study reveals candidate loci for narcolepsy. | |
| 16341674 | 2005 | Transcriptome analysis of human gastric cancer. | |
| 15489334 | 2004 | The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). | |
| 15063729 | 2004 | Identification of the human sphingolipid C4-hydroxylase, hDES2, and its up-regulation during keratinocyte differentiation. | |
| 12508121 | 2003 | The DNA sequence and analysis of human chromosome 14. | |
| 12477932 | 2002 | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |
