Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	123099
Gene name	Delta 4-desaturase, sphingolipid 2
Gene symbol	DEGS2
Synonyms (NCBI Gene)	C14orf66DES2FADS8
Chromosome	14
Chromosome location	14q32.2
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-hy

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miRTarBase ID	miRNA	Experiments
MIRT932003	hsa-miR-1202	CLIP-seq
MIRT932004	hsa-miR-2277-5p	CLIP-seq
MIRT932005	hsa-miR-3934	CLIP-seq
MIRT932006	hsa-miR-3972	CLIP-seq
MIRT932007	hsa-miR-4274	CLIP-seq
MIRT932008	hsa-miR-4423-5p	CLIP-seq
MIRT932009	hsa-miR-4436b-3p	CLIP-seq
MIRT932010	hsa-miR-4474-3p	CLIP-seq
MIRT932011	hsa-miR-4479	CLIP-seq
MIRT932012	hsa-miR-455-3p	CLIP-seq
MIRT932013	hsa-miR-4755-3p	CLIP-seq
MIRT932014	hsa-miR-483-3p	CLIP-seq
MIRT932015	hsa-miR-542-5p	CLIP-seq
MIRT932016	hsa-miR-604	CLIP-seq
MIRT932017	hsa-miR-644	CLIP-seq
MIRT932018	hsa-miR-647	CLIP-seq
MIRT932012	hsa-miR-455-3p	CLIP-seq
MIRT932003	hsa-miR-1202	CLIP-seq
MIRT2211325	hsa-miR-1275	CLIP-seq
MIRT2211326	hsa-miR-148a	CLIP-seq
MIRT2211327	hsa-miR-148b	CLIP-seq
MIRT2211328	hsa-miR-152	CLIP-seq
MIRT932004	hsa-miR-2277-5p	CLIP-seq
MIRT2211329	hsa-miR-24	CLIP-seq
MIRT2211330	hsa-miR-3184	CLIP-seq
MIRT2211331	hsa-miR-342-5p	CLIP-seq
MIRT2211332	hsa-miR-3929	CLIP-seq
MIRT932005	hsa-miR-3934	CLIP-seq
MIRT932006	hsa-miR-3972	CLIP-seq
MIRT2211333	hsa-miR-423-5p	CLIP-seq
MIRT2211334	hsa-miR-4264	CLIP-seq
MIRT2211335	hsa-miR-4417	CLIP-seq
MIRT2211336	hsa-miR-4419b	CLIP-seq
MIRT932008	hsa-miR-4423-5p	CLIP-seq
MIRT2211337	hsa-miR-4434	CLIP-seq
MIRT932009	hsa-miR-4436b-3p	CLIP-seq
MIRT2211338	hsa-miR-4437	CLIP-seq
MIRT932010	hsa-miR-4474-3p	CLIP-seq
MIRT2211339	hsa-miR-4478	CLIP-seq
MIRT932011	hsa-miR-4479	CLIP-seq
MIRT2211340	hsa-miR-4516	CLIP-seq
MIRT2211341	hsa-miR-4525	CLIP-seq
MIRT2211342	hsa-miR-4651	CLIP-seq
MIRT2211343	hsa-miR-4664-5p	CLIP-seq
MIRT2211344	hsa-miR-4665-5p	CLIP-seq
MIRT2211345	hsa-miR-4674	CLIP-seq
MIRT2211346	hsa-miR-4685-5p	CLIP-seq
MIRT2211347	hsa-miR-4708-3p	CLIP-seq
MIRT2211348	hsa-miR-4723-5p	CLIP-seq
MIRT2211349	hsa-miR-4731-5p	CLIP-seq
MIRT932013	hsa-miR-4755-3p	CLIP-seq
MIRT2211350	hsa-miR-4761-5p	CLIP-seq
MIRT2211351	hsa-miR-4797-3p	CLIP-seq
MIRT932014	hsa-miR-483-3p	CLIP-seq
MIRT2211352	hsa-miR-512-3p	CLIP-seq
MIRT932015	hsa-miR-542-5p	CLIP-seq
MIRT932016	hsa-miR-604	CLIP-seq
MIRT2211353	hsa-miR-608	CLIP-seq
MIRT2211354	hsa-miR-625	CLIP-seq
MIRT932017	hsa-miR-644	CLIP-seq
MIRT932018	hsa-miR-647	CLIP-seq

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GO ID	Ontology	Definition	Evidence
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006667	Process	Sphinganine metabolic process	IBA
GO:0006667	Process	Sphinganine metabolic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0030148	Process	Sphingolipid biosynthetic process	IEA
GO:0030148	Process	Sphingolipid biosynthetic process	IEA
GO:0030148	Process	Sphingolipid biosynthetic process	TAS
GO:0042284	Function	Sphingolipid delta-4 desaturase activity	IBA
GO:0042284	Function	Sphingolipid delta-4 desaturase activity	IEA
GO:0046513	Process	Ceramide biosynthetic process	IBA
GO:0102772	Function	Sphingolipid C4-monooxygenase activity	IEA
GO:0102772	Function	Sphingolipid C4-monooxygenase activity	TAS

MIM	HGNC	e!Ensembl
610862	20113	ENSG00000168350

Q6QHC5

Protein 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)

Protein function

Bifunctional enzyme which acts both as a sphingolipid delta(4)-desaturase and a sphingolipid C4-monooxygenase.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08557	Lipid_DES	6 → 42	Sphingolipid Delta4-desaturase (DES)	Domain
PF00487	FA_desaturase	66 → 293	Fatty acid desaturase	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in skin, intestine and kidney. {ECO:0000269|PubMed:15063729}.

Sequence

MGNSASRSDFEWVYTDQPHTQRRKEILAKYPAIKALMRPDPRLKWAVLVLVLVQMLACWL
VRGLAWRWLLFWAYAFGGCVNHSLTLAIHDISHNAAFGTGRAARNRWLAVFANLPVGVPY
AASFKKYHVDHHRYLGGDGLDVDVPTRLEGWFFCTPARKLLWLVLQPFFYSLRPLCVHPK
AVTRMEVLNTLVQLAADLAIFALWGLKPVVYLLASSFLGLGLHPISGHFVAEHYMFLKGH
ETYSYYGPLNWITFNVGYHVEHHDFPSIPGYNLPLVRKIAPEYYDHLPQHHSWVKVLWDF
VFEDSLGPYARVKRVYRLAKDGL

Sequence length

323

Interactions

View interactions

	KEGG		Reactome
	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway		Sphingolipid de novo biosynthesis

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SAPHO SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (12)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Neoplasms	Breast neoplasm	Pubtator	37122728	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	25871975		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	25871975	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29319171		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34363020	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29319171		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29319171		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	25871975		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	37122728	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	25871975		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	25871975		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	25871975	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

DEGS2 (delta 4-desaturase, sphingolipid 2)