DEGS2 delta 4-desaturase, sphingolipid 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DEGS2provided by HGNC
Official Full Name: delta 4-desaturase, sphingolipid 2provided by HGNC
Primary source: HGNC:HGNC:20113
See related: Ensembl:ENSG00000168350 MIM:610862; AllianceGenome:HGNC:20113
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DES2; FADS8; C14orf66
Summary: 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]
Expression: Biased expression in small intestine (RPKM 14.4), duodenum (RPKM 11.1) and 13 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q32.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (100143957..100166886, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (94377005..94399934, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (100610294..100625982, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Bifunctional DEGS2 has higher hydroxylase activity toward substrates with very-long-chain fatty acids in the production of phytosphingosine ceramides.
Title: Bifunctional DEGS2 has higher hydroxylase activity toward substrates with very-long-chain fatty acids in the production of phytosphingosine ceramides.
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.
Title: DEGS2 polymorphism associated with cognition in schizophrenia is associated with gene expression in brain.
overexpression of DEGS1 or DEGS2 attenuates the DHC accumulation and increased cell proliferation during hypoxia
Title: Dihydroceramide-based response to hypoxia.
Observational study of gene-disease association. (HuGE Navigator)
Title: An approach based on a genome-wide association study reveals candidate loci for narcolepsy.
DES2 was identified and its up-regulation followed during keratinocyte differentiation.
Title: Identification of the human sphingolipid C4-hydroxylase, hDES2, and its up-regulation during keratinocyte differentiation.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D14S1426 (e-PCR), detects polymorphism
- UniSTS:33596

RH47801 (e-PCR)
- UniSTS:9163

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables sphingolipid C4-monooxygenase activity	IEA Inferred from Electronic Annotation more info
enables sphingolipid delta-4 desaturase activity	IBA Inferred from Biological aspect of Ancestor more info
enables sphingosine hydroxylase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in ceramide biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in sphinganine metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in sphingolipid biosynthetic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: sphingolipid delta(4)-desaturase/C4-monooxygenase DES2

Names: degenerative spermatocyte homolog 2, lipid desaturase; dihydroceramide desaturase 2; sphingolipid 4-desaturase; sphingolipid C4-hydroxylase/delta 4-desaturase; sphingolipid C4-monooxygenase; sphingolipid delta 4 desaturase/C-4 hydroxylase; sphingolipid delta(4)-desaturase 2; sphingolipid delta(4)-desaturase/C4-hydroxylase DES2

NP_996801.2

EC 1.14.18.5

EC 1.14.19.17

XP_006720106.1

EC 1.14.18.5

EC 1.14.19.17

XP_054231403.1

EC 1.14.18.5

EC 1.14.19.17

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_206918.3 → NP_996801.2 sphingolipid delta(4)-desaturase/C4-monooxygenase DES2

See identical proteins and their annotated locations for NP_996801.2

Status: REVIEWED

Source sequence(s)

AI380009, AL133523, AY541700, BC063598, BM789564

Consensus CDS

CCDS9956.1

UniProtKB/Swiss-Prot

Q6P492, Q6QHC5

Related

ENSP00000307126.5, ENST00000305631.7

Conserved Domains (2) summary

cd03508
Location:26 → 314

Delta4-sphingolipid-FADS-like; The Delta4-sphingolipid Fatty Acid Desaturase (Delta4-sphingolipid-FADS)-like CD includes the integral-membrane enzymes, dihydroceramide Delta-4 desaturase, involved in the synthesis of sphingosine; and the human membrane fatty acid (lipid) desaturase ...

pfam08557
Location:6 → 42

Lipid_DES; Sphingolipid Delta4-desaturase (DES)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000014.9 Reference GRCh38.p14 Primary Assembly

Range

100143957..100166886 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006720043.4 → XP_006720106.1 sphingolipid delta(4)-desaturase/C4-monooxygenase DES2 isoform X1

See identical proteins and their annotated locations for XP_006720106.1

Conserved Domains (2) summary

cd03508
Location:1 → 278

Delta4-sphingolipid-FADS-like; The Delta4-sphingolipid Fatty Acid Desaturase (Delta4-sphingolipid-FADS)-like CD includes the integral-membrane enzymes, dihydroceramide Delta-4 desaturase, involved in the synthesis of sphingosine; and the human membrane fatty acid (lipid) desaturase ...

pfam00487
Location:32 → 258

FA_desaturase; Fatty acid desaturase