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FADS2 Gene(Protein Coding)

Fatty Acid Desaturase 2

GCID:
GC11P061792
GIFtS:
66
Genes Participants
UDN Logo

Aliases for FADS2 Gene

Aliases for FADS2 Gene

  • Fatty Acid Desaturase 2 2 3 5
  • Delta(6) Fatty Acid Desaturase 3 4
  • Acyl-CoA 6-Desaturase 3 4
  • Delta(6) Desaturase 3 4
  • Delta-6-Desaturase 2 3
  • Delta-6 Desaturase 3 4
  • D6D 3 4
  • Linoleoyl-CoA Desaturase (Delta-6-Desaturase)-Like 2 3
  • Delta-6 Fatty Acid Desaturase 3
  • EC 1.14.19.3 4
  • EC 1.14.19 63
  • SLL0262 3
  • FADSD6 3
  • LLCDL2 3
  • DES6 3
  • TU13 3

External Ids for FADS2 Gene

Previous HGNC Symbols for FADS2 Gene

  • LLCDL2

Previous GeneCards Identifiers for FADS2 Gene

  • GC11P064097
  • GC11P063159
  • GC11P061834
  • GC11P061359
  • GC11P061340
  • GC11P061352
  • GC11P061583
  • GC11P057923

Summaries for FADS2 Gene

Entrez Gene Summary for FADS2 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]

GeneCards Summary for FADS2 Gene

FADS2 (Fatty Acid Desaturase 2) is a Protein Coding gene. Diseases associated with FADS2 include Best Vitelliform Macular Dystrophy. Among its related pathways are alpha-linolenic (omega3) and linoleic (omega6) acid metabolism and Metabolism. GO annotations related to this gene include iron ion binding and 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. An important paralog of this gene is FADS1.

UniProtKB/Swiss-Prot for FADS2 Gene

  • Component of a lipid metabolic pathway that catalyzes biosynthesis of highly unsaturated fatty acids (HUFA) from precursor essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3). Catalyzes the first and rate limiting step in this pathway which is the desaturation of LA (18:2n-6) and ALA (18:3n-3) into gamma-linoleic acid (GLA) (18:3n-6) and stearidonic acid (18:4n-3) respectively and other desaturation steps. Highly unsaturated fatty acids (HUFA) play pivotal roles in many biological functions. It catalizes as well the introduction of a cis double bond in palmitate to produce the mono-unsaturated fatty acid sapienate, the most abundant fatty acid in sebum.

Gene Wiki entry for FADS2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FADS2 Gene

Genomics for FADS2 Gene

Products:

  1. Regulatory Element

Regulatory Elements for FADS2 Gene

Enhancers for FADS2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around FADS2 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the FADS2 gene promoter:

Genomic Location for FADS2 Gene

Chromosome:
11
Start:
61,792,980 bp from pter
End:
61,867,354 bp from pter
Size:
74,375 bases
Orientation:
Plus strand

Genomic View for FADS2 Gene

Genes around FADS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FADS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FADS2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for FADS2 Gene

Proteins for FADS2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for FADS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95864-FADS2_HUMAN
    Recommended name:
    Fatty acid desaturase 2
    Protein Accession:
    O95864
    Secondary Accessions:
    • A8K2M6
    • B7Z634
    • Q6MZQ7
    • Q96H07
    • Q96SV8
    • Q9H3G3
    • Q9Y3X4

    Protein attributes for FADS2 Gene

    Size:
    444 amino acids
    Molecular mass:
    52259 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for FADS2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FADS2 Gene

Proteomics data for FADS2 Gene at MOPED

Protein Expression for FADS2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for FADS2 Gene

O95864:

Post-translational modifications for FADS2 Gene

  • Ubiquitination at Lys 28, Lys 42, Lys 48, Lys 84, Lys 87, Lys 108, Lys 206, Lys 398, Lys 404, Lys 417, and Lys 435
  • Modification sites at PhosphoSitePlus

Other Protein References for FADS2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for FADS2

Domains & Families for FADS2 Gene

Gene Families for FADS2 Gene

HGNC:

Protein Domains for FADS2 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FADS2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O95864

UniProtKB/Swiss-Prot:

FADS2_HUMAN :
  • The histidine box domains may contain the active site and/or be involved in metal ion binding.
  • Belongs to the fatty acid desaturase type 1 family.
Domain:
  • The histidine box domains may contain the active site and/or be involved in metal ion binding.
  • Contains 1 cytochrome b5 heme-binding domain.
Family:
  • Belongs to the fatty acid desaturase type 1 family.
genes like me logo Genes that share domains with FADS2: view

Function for FADS2 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for FADS2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Linoleoyl-CoA + 2 ferrocytochrome b5 + O(2) + 2 H(+) = gamma-linolenoyl-CoA + 2 ferricytochrome b5 + 2 H(2)O.
UniProtKB/Swiss-Prot CatalyticActivity:
Alpha-linolenoyl-CoA + 2 ferrocytochrome b5 + O(2) + 2 H(+) = stearidonoyl-CoA + 2 ferricytochrome b5 + 2 H(2)O.
UniProtKB/Swiss-Prot Function:
Component of a lipid metabolic pathway that catalyzes biosynthesis of highly unsaturated fatty acids (HUFA) from precursor essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3). Catalyzes the first and rate limiting step in this pathway which is the desaturation of LA (18:2n-6) and ALA (18:3n-3) into gamma-linoleic acid (GLA) (18:3n-6) and stearidonic acid (18:4n-3) respectively and other desaturation steps. Highly unsaturated fatty acids (HUFA) play pivotal roles in many biological functions. It catalizes as well the introduction of a cis double bond in palmitate to produce the mono-unsaturated fatty acid sapienate, the most abundant fatty acid in sebum.
UniProtKB/Swiss-Prot Induction:
Repressed by dietary highly unsaturated fatty acids.

Enzyme Numbers (IUBMB) for FADS2 Gene

Gene Ontology (GO) - Molecular Function for FADS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004768 stearoyl-CoA 9-desaturase activity IEA --
genes like me logo Genes that share ontologies with FADS2: view

Phenotypes for FADS2 Gene

MGI mutant phenotypes for FADS2:
inferred from 2 alleles
GenomeRNAi human phenotypes for FADS2:
genes like me logo Genes that share phenotypes with FADS2: view

Animal Models for FADS2 Gene

MGI Knock Outs for FADS2:

Animal Model Products

  • Taconic Biosciences Mouse Models for FADS2

miRNA for FADS2 Gene

miRTarBase miRNAs that target FADS2

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FADS2 Gene

Localization for FADS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FADS2 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FADS2 Gene COMPARTMENTS Subcellular localization image for FADS2 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 5
peroxisome 3
cytosol 1
extracellular 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for FADS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane TAS 9867867
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with FADS2: view

Pathways & Interactions for FADS2 Gene

genes like me logo Genes that share pathways with FADS2: view

UniProtKB/Swiss-Prot O95864-FADS2_HUMAN

  • Pathway: Lipid metabolism; polyunsaturated fatty acid biosynthesis.

Gene Ontology (GO) - Biological Process for FADS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0043651 linoleic acid metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with FADS2: view

No data available for SIGNOR curated interactions for FADS2 Gene

Drugs & Compounds for FADS2 Gene

Products:

  1. Drug

(3) Drugs for FADS2 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
alpha-linolenic acid Approved Nutra Full agonist, Agonist, Target, ligand 0
heme Pharma Agonist 0

(4) Additional Compounds for FADS2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Stearidonic acid
  • 6,9,12,15-Octadecatetraenoate
  • 6,9,12,15-Octadecatetraenoic acid
  • Stearidonic acid
  • Stearidonic acid C18:4
 20290-75-9
genes like me logo Genes that share compounds with FADS2: view

Transcripts for FADS2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for FADS2 Gene

(4) REFSEQ mRNAs :
(14) Additional mRNA sequences :
(474) Selected AceView cDNA sequences:
(15) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FADS2 Gene

Fatty acid desaturase 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FADS2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8
SP1: - -
SP2:

Relevant External Links for FADS2 Gene

GeneLoc Exon Structure for
FADS2
ECgene alternative splicing isoforms for
FADS2

Expression for FADS2 Gene

Products:

  1. Primer

mRNA expression in normal human tissues for FADS2 Gene

mRNA expression in normal human tissues for FADS2 Gene
mRNA expression by BioGPS for FADS2 GenemRNA expression by GTEx for FADS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FADS2 Gene

This gene is overexpressed in Adrenal Gland (x7.6).

Protein differential expression in normal tissues from HIPED for FADS2 Gene

This gene is overexpressed in Breast (37.0), Adrenal (9.0), Fetal testis (7.2), and Fetal ovary (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for FADS2 Gene



SOURCE GeneReport for Unigene cluster for FADS2 Gene Hs.502745

mRNA Expression by UniProt/SwissProt for FADS2 Gene

O95864-FADS2_HUMAN
Tissue specificity: Expressed in a wide array of tissues, highest expression is found in liver followed by brain, lung, heart, and retina. A lower level is found in breast tumor when compared with normal tissues; lowest levels were found in patients with poor prognostic index.
genes like me logo Genes that share expression patterns with FADS2: view

Protein tissue co-expression partners for FADS2 Gene

Primer Products

Orthologs for FADS2 Gene

This gene was present in the common ancestor of animals.

Orthologs for FADS2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
 Mammalia FADS2 35
  • 89.64 (n)
  • 89.64 (a)
FADS2 36
  • 89 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia FADS2 35
  • 90.35 (n)
  • 90 (a)
FADS2 36
  • 92 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Fads2 35
  • 87.24 (n)
  • 87.61 (a)
Fads2 16
Fads2 36
  • 87 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia FADS2 35
  • 99.77 (n)
  • 99.77 (a)
FADS2 36
  • 100 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Fads2 35
  • 87.31 (n)
  • 88.29 (a)
oppossum
(Monodelphis domestica)
 Mammalia FADS2 36
  • 75 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 36
  • 89 (a)
 OneToMany
-- 36
  • 78 (a)
 OneToMany
chicken
(Gallus gallus)
 Aves FADS2 35
  • 74.92 (n)
  • 77.03 (a)
FADS2 36
  • 77 (a)
 OneToMany
lizard
(Anolis carolinensis)
 Reptilia -- 36
  • 73 (a)
 OneToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia fads2 35
  • 70.86 (n)
  • 73.43 (a)
African clawed frog
(Xenopus laevis)
 Amphibia MGC68735 35
zebrafish
(Danio rerio)
 Actinopterygii fads2 35
  • 67.19 (n)
  • 64.86 (a)
fads2 36
  • 65 (a)
 OneToMany
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.11040 35
worm
(Caenorhabditis elegans)
 Secernentea fat-3 37
  • 28 (a)
fat-3 35
  • 43.83 (n)
  • 33.82 (a)
fat-3 36
  • 25 (a)
 ManyToMany
fat-4 36
  • 22 (a)
 ManyToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 36
  • 26 (a)
 OneToMany
Species with no ortholog for FADS2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FADS2 Gene

ENSEMBL:
Gene Tree for FADS2 (if available)
TreeFam:
Gene Tree for FADS2 (if available)

Paralogs for FADS2 Gene

Paralogs for FADS2 Gene

(3) SIMAP similar genes for FADS2 Gene using alignment to 9 proteins:

Pseudogenes.org Pseudogenes for FADS2 Gene

genes like me logo Genes that share paralogs with FADS2: view

Variants for FADS2 Gene

Sequence variations from dbSNP and Humsavar for FADS2 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs520298 -- 61,863,810(+) GGAGG(A/C/T)GGGGA intron-variant
rs526126 -- 61,857,413(+) GGCAG(C/G/T)GTGGA intron-variant
rs527375 -- 61,840,853(+) GGGCC(A/C)TGGTG intron-variant
rs556656 -- 61,855,433(+) CAGCA(A/C/T)CTCCG intron-variant
rs562172 -- 61,858,695(-) GGCAG(A/G)AGAAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FADS2 Gene

Variant ID Type Subtype PubMed ID
nsv528697 CNV Loss 19592680
nsv897613 CNV Loss 21882294
nsv897614 CNV Loss 21882294
esv2670536 CNV Deletion 23128226
nsv468585 CNV Loss 19166990

Variation tolerance for FADS2 Gene

Residual Variation Intolerance Score: 11.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.22; 4.95% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FADS2 Gene

Human Gene Mutation Database (HGMD)
FADS2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FADS2 Gene

Disorders for FADS2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for FADS2 Gene - From: GeneCards

Disorder Aliases PubMed IDs
best vitelliform macular dystrophy
  • vitelliform macular dystrophy
- elite association - COSMIC cancer census association via MalaCards
Search FADS2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for FADS2

Genetic Association Database (GAD)
FADS2
Human Genome Epidemiology (HuGE) Navigator
FADS2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FADS2
genes like me logo Genes that share disorders with FADS2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FADS2 Gene

Publications for FADS2 Gene

  1. Role of FADS1 and FADS2 polymorphisms in polyunsaturated fatty acid metabolism. (PMID: 20045144) Glaser C. … Koletzko B. (Metab. Clin. Exp. 2010) 3 23 48 67
  2. Identification of the delta-6 desaturase of human sebaceous glands: expression and enzyme activity. (PMID: 12713571) Ge L. … Prouty S.M. (J. Invest. Dermatol. 2003) 3 23 25 26
  3. alpha-Linolenic acid, Delta6-desaturase gene polymorphism, and the risk of nonfatal myocardial infarction. (PMID: 17284757) Baylin A. … Campos H. (Am. J. Clin. Nutr. 2007) 3 25 26
  4. [Heteologous expression of Mortierella isabellina delta6 -fatty acid desaturase gene in soybean]. (PMID: 15481543) Li M.C. … Xing L.J. (Yi Chuan Xue Bao 2004) 23 25 26
  5. Molecular analysis of a886 desaturase and a886 elongase from Conidiobolus obscurus in the biosynthesis of eicosatetraenoic acid, a I83 fatty acid with nutraceutical potentials. (PMID: 21210105) Tan L. … Qiu X. (Appl. Microbiol. Biotechnol. 2011) 25 26

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