FADS2
Acyl-CoA 6-desaturase
Also known as: D6D, DES6, FADS2_HUMAN, FADSD6, LLCDL2, SLL0262, TU13
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O95864
- Gene
- FADS2
- Ensembl
- ENSG00000134824
- Chromosome
- 11
- Canonical length
- 444 aa
- Protein class
- Enzymes, FDA approved drug targets, Metabolic proteins, Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Nuclear membrane,Endoplasmic reticulum,Plasma membrane
OverviewNCBI Gene
The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
Canonical amino-acid sequenceUniProt
444 residues, UniProt reviewed canonical sequence.
>O95864|FADS2
1 MGKGGNQGEG AAEREVSVPT FSWEEIQKHN LRTDRWLVID RKVYNITKWS IQHPGGQRVI
61 GHYAGEDATD AFRAFHPDLE FVGKFLKPLL IGELAPEEPS QDHGKNSKIT EDFRALRKTA
121 EDMNLFKTNH VFFLLLLAHI IALESIAWFT VFYFGNGWIP TLITAFVLAT SQAQAGWLQH
181 DYGHLSVYRK PKWNHLVHKF VIGHLKGASA NWWNHRHFQH HAKPNIFHKD PDVNMLHVFV
241 LGEWQPIEYG KKKLKYLPYN HQHEYFFLIG PPLLIPMYFQ YQIIMTMIVH KNWVDLAWAV
301 SYYIRFFITY IPFYGILGAL LFLNFIRFLE SHWFVWVTQM NHIVMEIDQE AYRDWFSSQL
361 TATCNVEQSF FNDWFSGHLN FQIEHHLFPT MPRHNLHKIA PLVKSLCAKH GIEYQEKPLL
421 RALLDIIRSL KKSGKLWLDA YLHKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against FADS2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 4
- Mean surface accessibility (rSASA)
- 0.25
- Highest tissue expression
- 303 nTPM
Expression across tissuesHPA
Tissue
- adrenal gland: 303 nTPM
- seminal vesicle: 177 nTPM
- cerebral cortex: 134 nTPM
- amygdala: 127 nTPM
- basal ganglia: 126 nTPM
- liver: 122 nTPM
Single-cell type
- retinal pigment epithelial cells: 183 nCPM
- adrenal cortex cells: 164 nCPM
- megakaryocyte progenitors: 150 nCPM
- astrocytes: 145 nCPM
- retinal ganglion cells: 116 nCPM
- megakaryocytes: 99 nCPM
Immune cell
- plasmacytoid DC: 12 nTPM
- myeloid DC: 10 nTPM
- intermediate monocyte: 8.3 nTPM
- gdT-cell: 8.2 nTPM
- non-classical monocyte: 7.4 nTPM
- eosinophil: 6.1 nTPM
Brain region
- thalamus: 378 nTPM
- midbrain: 297 nTPM
- medulla oblongata: 271 nTPM
- hypothalamus: 243 nTPM
- pons: 229 nTPM
- spinal cord: 222 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.23
- gnomAD pLI
- 1
- gnomAD missense Z
- 3.19
- DepMap mean gene effect
- -0.1
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 1% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- alpha-linolenic acid metabolic process
- fatty acid derivative biosynthetic process
- linoleic acid metabolic process
- lipid metabolic process
- long-chain fatty acid biosynthetic process
- unsaturated fatty acid biosynthetic process
- arachidonate metabolite production involved in inflammatory response
- positive regulation of cellular response to oxidative stress
Molecular functions
- acyl-CoA 6-desaturase activity
- oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water
- stearoyl-CoA 9-desaturase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads FADS2 as an antibody target. Whether an autoantibody or antibody against FADS2 could matter depends on whether native FADS2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
FADS2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label FADS2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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