2. Gene
  3. DEGS2 - delta 4-desaturase, sphingolipid 2 Gene

DEGS2 - delta 4-desaturase, sphingolipid 2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as DES2; FADS8; C14orf66

Gene ID: 123099 | Gene type: protein coding

About DEGS2

Cytogenetic location: 14q32.2 Genomic coordinates (GRCh38): 14:100,143,957-100,166,886 (from NCBI)

This gene has 3 transcripts (splice variants), 194 orthologues and 1 paralogue. Biased expression in small intestine (RPKM 14.4), duodenum (RPKM 11.1) and 13 other tissues.

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]

DEGS2 Products(1)

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

DEGS2 Protein Structure

Lipid_DES

Lipid_DES: Sphingolipid Delta4-desaturase (DES) (6 - 42)

FA_desaturase

FA_desaturase: Fatty acid desaturase (66 - 286)

  • 0
  • 100
  • 200
  • 300
  • 323 a.a.
Protein Preferred Names Protein Names

sphingolipid delta(4)-desaturase/C4-monooxygenase DES2

degenerative spermatocyte homolog 2, lipid desaturase

Related Diseases

Diseases Alias
Fetal Akinesia Deformation Sequence 4

FADS4

Fetal Akinesia Deformation Sequence Syndrome 4

Akinesia, Fetal, Deformation Sequence, Type 4
Hereditary Sensory And Autonomic Neuropathy Type 1

Hereditary Sensory And Autonomic Neuropathy Type I

Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome

Hsan1e

Hsan1

Dnmt1-Related Dementia, Deafness, And Sensory Neuropathy

Hsn1e

Hsnie

Hereditary Sensory Neuropathy Type Ie

Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome

Hereditary Sensory And Autonomic Neuropathy Type Ie

Hereditary Sensory And Autonomic Neuropathy Type 1e

Hereditary Sensory Neuropathy With Hearing Loss And Dementia

Dnmt1-Complex Disorder

Hereditary Sensory And Autonomic Neuropathy Type 1 With Dementia And Hearing Loss

Hsn Ie

Hereditary Sensory Autonomic Neuropathy, Type 1

Hsan1- [Hereditary Sensory And Autonomic Neuropathy Type I]
Fetal Akinesia Deformation Sequence 1

Fetal Akinesia Deformation Sequence

Fads

Fetal Akinesia Sequence

FADS1

Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia

Pena-Shokeir Syndrome Type 1

Fetal Akinesia Deformation Sequence Syndrome

Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome

Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia

Pena-Shokeir Syndrome, Type I

Foetal Akinesia Deformation Sequence Syndrome

Foetal Akinesia Sequence

Fetal Akinesia Deformation Sequence Syndrome 1

Pena-Shokeir Syndrome, Type 1

Pena Shokeir Syndrome, Type 1

Akinesia, Fetal, Deformation Sequence

Akinesia, Fetal, Deformation Sequence, Type 1

Pena-Shokeir Syndrome Type I
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (2)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS03683 DEGS2 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown
HY-161804 GNF-2-deg Degrader / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta DEGS2 VGNC VGNC:108293
Mus musculus DEGS2 MGD MGI:1917309
Canis familiaris DEGS2 VGNC VGNC:39883
Rattus norvegicus DEGS2 RGD RGD:1305023
Felis catus DEGS2 VGNC VGNC:61429
Bos taurus DEGS2 VGNC VGNC:27991