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Aliases for FADS2 Gene

Aliases for FADS2 Gene

  • Fatty Acid Desaturase 2 2 3
  • Delta(6) Fatty Acid 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.- 4
  • EC 1.14.19 64
  • SLL0262 3
  • FADSD6 3
  • LLCDL2 3
  • DES6 3
  • TU13 3

External Ids for FADS2 Gene

Previous Symbols for FADS2 Gene

  • LLCDL2

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 vitelliform macular dystrophy and paranoid schizophrenia. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include iron ion binding and stearoyl-CoA 9-desaturase activity. 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

Genomic Location for FADS2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FADS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FADS2 Gene

Regulatory Elements for FADS2 Gene

Proteins for FADS2 Gene

  • 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

Post-translational modifications for FADS2 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys28, Lys42, Lys48, Lys84, Lys87, Lys108, Lys206, Lys223, Lys398, Lys404, Lys409, Lys417, and Lys435

Domains for FADS2 Gene

Gene Families for FADS2 Gene

HGNC:
  • FADS :Fatty acid desaturases

Protein Domains for FADS2 Gene

UniProtKB/Swiss-Prot:

FADS2_HUMAN
Domain:
  • The histidine box domains may contain the active site and/or be involved in metal ion binding:
    • O95864
  • Contains 1 cytochrome b5 heme-binding domain.:
    • O95864
Family:
  • Belongs to the fatty acid desaturase family.:
    • O95864
genes like me logo Genes that share domains with FADS2: view

Function for FADS2 Gene

Molecular function for FADS2 Gene

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 --
GO:0005506 iron ion binding IEA --
GO:0016717 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 --
GO:0020037 heme binding IEA --
genes like me logo Genes that share ontologies with FADS2: view
genes like me logo Genes that share phenotypes with FADS2: view

Animal Models for FADS2 Gene

MGI Knock Outs for FADS2:

No data available for Transcription Factor Targeting 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 4
peroxisome 2
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:0005789 endoplasmic reticulum membrane TAS --
GO:0005887 integral component of plasma membrane TAS 9867867
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with FADS2: view

Pathways 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 --
GO:0006633 fatty acid biosynthetic process --
GO:0006636 unsaturated fatty acid biosynthetic process IEA --
GO:0033559 unsaturated fatty acid metabolic process TAS --
GO:0036109 alpha-linolenic acid metabolic process TAS --
genes like me logo Genes that share ontologies with FADS2: view

Compounds for FADS2 Gene

(3) HMDB Compounds for FADS2 Gene

Compound Synonyms Cas Number PubMed IDs
Alpha-Linolenic acid
  • (9,12,15)-linolenate
463-40-1
Heme
  • (protoporphyrinato)iron
14875-96-8
Stearidonic acid
  • Stearidonic acid
20290-75-9

(1) Drugbank Compounds for FADS2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Alpha-Linolenic Acid
  • (9Z,12Z,15Z)-Octadecatrienoic acid
463-40-1 target ligand

(5) Novoseek inferred chemical compound relationships for FADS2 Gene

Compound -log(P) Hits PubMed IDs
parinaric acid 81.5 2
fatty acid 72.6 16
alpha-linolenic acid 71.8 5
gamma-linolenic acid 69.8 4
linoleic acid 69.5 7
genes like me logo Genes that share compounds with FADS2: view

Transcripts for FADS2 Gene

Unigene Clusters for FADS2 Gene

Fatty acid desaturase 2:
Representative Sequences:

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

mRNA expression in normal human tissues 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 (7.6).

Integrated Proteomics: protein expression 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 expressions with FADS2: view

Orthologs for FADS2 Gene

This gene was present in the common ancestor of animals.

Orthologs for FADS2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FADS2 36
  • 99.77 (n)
  • 99.77 (a)
FADS2 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FADS2 36
  • 89.64 (n)
  • 89.64 (a)
FADS2 37
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FADS2 36
  • 90.35 (n)
  • 90 (a)
FADS2 37
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fads2 36
  • 87.24 (n)
  • 87.61 (a)
Fads2 16
Fads2 37
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FADS2 37
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 89 (a)
OneToMany
-- 37
  • 78 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Fads2 36
  • 87.31 (n)
  • 88.29 (a)
chicken
(Gallus gallus)
Aves FADS2 36
  • 74.92 (n)
  • 77.03 (a)
FADS2 37
  • 77 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 73 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia MGC68735 36
tropical clawed frog
(Silurana tropicalis)
Amphibia fads2 36
  • 70.86 (n)
  • 73.43 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11040 36
zebrafish
(Danio rerio)
Actinopterygii fads2 36
  • 67.19 (n)
  • 64.86 (a)
fads2 37
  • 65 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea fat-3 36
  • 43.83 (n)
  • 33.82 (a)
fat-3 37
  • 25 (a)
ManyToMany
fat-4 37
  • 22 (a)
ManyToMany
fat-3 38
  • 28 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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

Selected 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 MAF
rs1535 -- 61,830,500(+) ACTAG(A/G)ATGAC intron-variant
rs3741 -- 61,864,142(-) CAGTC(C/T)CTCGG intron-variant
rs28456 -- 61,822,009(+) ctgtc(A/G)cccag intron-variant
rs93923 -- 61,846,273(-) TGGGC(A/G)TGGTG intron-variant
rs97384 -- 61,856,709(-) GCCCA(A/G)GGCCA 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

Relevant External Links for FADS2 Gene

HapMap Linkage Disequilibrium report
FADS2
Human Gene Mutation Database (HGMD)
FADS2

Disorders for FADS2 Gene

Relevant External Links for FADS2

Genetic Association Database (GAD)
FADS2
Human Genome Epidemiology (HuGE) Navigator
FADS2
genes like me logo Genes that share disorders with FADS2: view

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

Publications for FADS2 Gene

  1. 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 4 23 25
  2. cDNA cloning, genomic structure, and chromosomal localization of three members of the human fatty acid desaturase family. (PMID: 10860662) Marquardt A. … Weber B.H. (Genomics 2000) 3 4 23
  3. Association of fatty acid desaturase genes with attention-deficit/hyperactivity disorder. (PMID: 16893529) Brookes K.J. … Asherson P. (Biol. Psychiatry 2006) 3 23 49
  4. SNPs of the FADS gene cluster are associated with polyunsaturated fatty acids in a cohort of patients with cardiovascular disease. (PMID: 18320251) Malerba G. … Illig T. (Lipids 2008) 3 23 49
  5. Genetically determined variation in polyunsaturated fatty acid metabolism may result in different dietary requirements. (PMID: 18626191) Koletzko B. … Heinrich J. (Nestle Nutr Workshop Ser Pediatr Program 2008) 3 23 49

Products for FADS2 Gene

Sources for FADS2 Gene

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