Gene id |
123099 |
Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
Gene Symbol |
DEGS2 Gene UCSC Ensembl |
Aliases |
C14orf66, DES2, FADS8 |
Gene name |
delta 4-desaturase, sphingolipid 2 |
Alternate names |
sphingolipid delta(4)-desaturase/C4-monooxygenase DES2, degenerative spermatocyte homolog 2, lipid desaturase, dihydroceramide desaturase 2, sphingolipid 4-desaturase, sphingolipid C4-hydroxylase/delta 4-desaturase, sphingolipid C4-monooxygenase, sphingolipid d, |
Gene location |
14q32.2 (100166885: 100143956) Exons: 5 NC_000014.9
|
Gene summary(Entrez) |
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-hy
|
OMIM |
610862 |
Protein Summary
|
Protein general information
| Q6QHC5
Name: Sphingolipid delta(4) desaturase/C4 monooxygenase DES2 (EC 1.14.18.5) (EC 1.14.19.17) (Degenerative spermatocyte homolog 2) (Sphingolipid 4 desaturase) (Sphingolipid C4 monooxygenase)
Length: 323 Mass: 37197
Tissue specificity: Highly expressed in skin, intestine and kidney. {ECO
|
Sequence |
MGNSASRSDFEWVYTDQPHTQRRKEILAKYPAIKALMRPDPRLKWAVLVLVLVQMLACWLVRGLAWRWLLFWAYA FGGCVNHSLTLAIHDISHNAAFGTGRAARNRWLAVFANLPVGVPYAASFKKYHVDHHRYLGGDGLDVDVPTRLEG WFFCTPARKLLWLVLQPFFYSLRPLCVHPKAVTRMEVLNTLVQLAADLAIFALWGLKPVVYLLASSFLGLGLHPI SGHFVAEHYMFLKGHETYSYYGPLNWITFNVGYHVEHHDFPSIPGYNLPLVRKIAPEYYDHLPQHHSWVKVLWDF VFEDSLGPYARVKRVYRLAKDGL
|
Structural information |
|
Other Databases |
GeneCards: DEGS2 Malacards: DEGS2 |
|
GO accession | Term name | Evidence code | Go category |
---|
GO:0000170 |
sphingosine hydroxylase a ctivity
|
IBA |
molecular function |
GO:0046513 |
ceramide biosynthetic pro cess
|
IBA |
biological process |
GO:0042284 |
sphingolipid delta-4 desa turase activity
|
IBA |
molecular function |
GO:0006667 |
sphinganine metabolic pro cess
|
IBA |
biological process |
GO:0042284 |
sphingolipid delta-4 desa turase activity
|
IEA |
molecular function |
GO:0006629 |
lipid metabolic process
|
IEA |
biological process |
GO:0016021 |
integral component of mem brane
|
IEA |
cellular component |
GO:0030148 |
sphingolipid biosynthetic process
|
IEA |
biological process |
GO:0055114 |
oxidation-reduction proce ss
|
IEA |
biological process |
GO:0005783 |
endoplasmic reticulum
|
IEA |
cellular component |
GO:0016491 |
oxidoreductase activity
|
IEA |
molecular function |
GO:0016021 |
integral component of mem brane
|
IEA |
cellular component |
GO:0006629 |
lipid metabolic process
|
IEA |
biological process |
GO:0016020 |
membrane
|
IEA |
cellular component |
GO:0000170 |
sphingosine hydroxylase a ctivity
|
TAS |
molecular function |
GO:0030148 |
sphingolipid biosynthetic process
|
TAS |
biological process |
GO:0005789 |
endoplasmic reticulum mem brane
|
TAS |
cellular component |
GO:0030148 |
sphingolipid biosynthetic process
|
IEA |
biological process |
GO:0006667 |
sphinganine metabolic pro cess
|
IEA |
biological process |
GO:0042284 |
sphingolipid delta-4 desa turase activity
|
IEA |
molecular function |
GO:0005789 |
endoplasmic reticulum mem brane
|
IEA |
cellular component |
GO:0030148 |
sphingolipid biosynthetic process
|
IEA |
biological process |
|
|
|
|
Associated diseases |
References |
Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
Cryptorchidism | MIK: 28606200 |
Teratozoospermia | MIK: 17327269 |
|
|
PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
17327269 |
Teratozoos permia
|
|
|
13 (5 controls, 8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
21674046 |
Aberrant C pGs in Low Motility Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
28606200 |
Cryptorchi dism
|
|
|
Monozgotic twin s (1 control, I cwith cryptorc hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
28606200 |
Cryptorchi dism
|
|
|
Monozgotic twin s (1 control, I cwith cryptorc hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
|