DEGS2 - delta 4-desaturase, sphingolipid 2 Gene

Also Known as DES2; FADS8; C14orf66

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 123099

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

Pre-clinical Phase

Bioactive Molecules (4)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-161804 GNF-2-deg Degrader / Unkown
HY-RS03683 DEGS2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS20908 Degs2 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS27425 Degs2 Rat Pre-designed siRNA Set A Pre-designed Set / 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
Others DEGS2 NCBI