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FADS2 fatty acid desaturase 2 [ Homo sapiens (human) ]

Gene ID: 9415, updated on 27-Nov-2024

Summary

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Official Symbol
FADS2provided by HGNC
Official Full Name
fatty acid desaturase 2provided by HGNC
Primary source
HGNC:HGNC:3575
See related
Ensembl:ENSG00000134824 MIM:606149; AllianceGenome:HGNC:3575
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
D6D; DES6; TU13; FADSD6; LLCDL2; SLL0262
Summary
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]
Expression
Broad expression in adrenal (RPKM 104.8), brain (RPKM 64.0) and 16 other tissues See more
Orthologs
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Genomic context

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See FADS2 in Genome Data Viewer
Location:
11q12.2
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (61816203..61867354)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (61805120..61856305)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (61583675..61634826)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr11:61559319-61560296 and GRCh37_chr11:61560297-61561272 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:61562818-61563318 Neighboring gene flap structure-specific endonuclease 1 Neighboring gene fatty acid desaturase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3399 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:61582779-61583676 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3400 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3401 Neighboring gene uncharacterized LOC124902680 Neighboring gene microRNA 1908 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:61594111-61594788 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:61594789-61595466 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3403 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3404 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:61600847-61601714 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:61601715-61602582 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:61602583-61603450 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:61606205-61606762 Neighboring gene CRISPR perturbation-validated FADS1 cis-regulatory element TAD5.SE2.HS2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:61615048-61615548 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:61615549-61616049 Neighboring gene uncharacterized LOC124902679 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:61624465-61624966 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:61628720-61629220 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:61629221-61629721 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:61642149-61642697 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:61646639-61647348 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:61655245-61655746 Neighboring gene fatty acid desaturase 3 Neighboring gene microRNA 6746 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:61657348-61658037 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:61658038-61658726 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3407 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:61666908-61667879 Neighboring gene RAB3A interacting protein like 1 Neighboring gene Sharpr-MPRA regulatory region 8487 Neighboring gene RNA, U6 small nuclear 1243, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Effects of the rs3834458 Single Nucleotide Polymorphism in FADS2 on Levels of n-3 Long-chain Polyunsaturated Fatty Acids: A Meta-analysis. Chen X, et al. Prostaglandins Leukot Essent Fatty Acids, 2019 Nov. PMID 31487670
  2. Moderation of breastfeeding effects on the IQ by genetic variation in fatty acid metabolism. Caspi A, et al. Proc Natl Acad Sci U S A, 2007 Nov 20. PMID 17984066, Free PMC Article
  3. Lower polyunsaturated fatty acid levels and FADS2 expression in adult compared to neonatal keratinocytes are associated with FADS2 promotor hypermethylation. Pararasa C, et al. Biochem Biophys Res Commun, 2022 Apr 23. PMID 35219001, Free PMC Article
  4. Characterization of a novel FADS2 transcript variant: implications for D6D activity regulation in cells. Marks KA, et al. Biochem Cell Biol, 2021 Dec. PMID 34738827
  5. FADS2 function loss at the cancer hotspot 11q13 locus diverts lipid signaling precursor synthesis to unusual eicosanoid fatty acids. Park WJ, et al. PLoS One, 2011. PMID 22140540, Free PMC Article

See all (245) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. High Frequency of Ancestral Haplotype A of Fatty Acid Desaturase Genes in the Yakut Population.
    Title: High Frequency of Ancestral Haplotype A of Fatty Acid Desaturase Genes in the Yakut Population.
  2. FADS1/2 control lipid metabolism and ferroptosis susceptibility in triple-negative breast cancer.
    Title: FADS1/2 control lipid metabolism and ferroptosis susceptibility in triple-negative breast cancer.
  3. FADS2 confers SCD1 inhibition resistance to cancer cells by modulating the ER stress response.
    Title: FADS2 confers SCD1 inhibition resistance to cancer cells by modulating the ER stress response.
  4. Impact of FADS genotype on polyunsaturated fatty acid content in human milk extracellular vesicles: A genetic association study.
    Title: Impact of FADS genotype on polyunsaturated fatty acid content in human milk extracellular vesicles: A genetic association study.
  5. Brain tissue- and cell type-specific eQTL Mendelian randomization reveals efficacy of FADS1 and FADS2 on cognitive function.
    Title: Brain tissue- and cell type-specific eQTL Mendelian randomization reveals efficacy of FADS1 and FADS2 on cognitive function.
  6. Hsa_circ_0000073 promotes lipid synthesis of osteosarcoma through hsa-miR-1184/ FADS2 pathway.
    Title: Hsa_circ_0000073 promotes lipid synthesis of osteosarcoma through hsa-miR-1184/ FADS2 pathway.
  7. Genome-wide analysis identifies genetic effects on reproductive success and ongoing natural selection at the FADS locus.
    Title: Genome-wide analysis identifies genetic effects on reproductive success and ongoing natural selection at the FADS locus.
  8. Placental expression of Fatty Acid Desaturases 1, 2 and 3 in selected pregnancy pathologies.
    Title: Placental expression of Fatty Acid Desaturases 1, 2 and 3 in selected pregnancy pathologies.
  9. The role of fatty acid desaturase 2 in multiple tumor types revealed by bulk and single-cell transcriptomes.
    Title: The role of fatty acid desaturase 2 in multiple tumor types revealed by bulk and single-cell transcriptomes.
  10. The integrative panel of fatty acid desaturase-2 (FADS2) rs174583 gene polymorphism and dietary indices (DQI-I and HEI) affects cardiovascular risk factors among obese individuals.
    Title: The integrative panel of fatty acid desaturase-2 (FADS2) rs174583 gene polymorphism and dietary indices (DQI-I and HEI) affects cardiovascular risk factors among obese individuals.
Submit: New GeneRIF Correction See all GeneRIFs (155)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study of the metabolic syndrome in Indian Asian men.
EBI GWAS Catalog
An atlas of genetic influences on human blood metabolites.
EBI GWAS Catalog
Biological, clinical and population relevance of 95 loci for blood lipids.
EBI GWAS Catalog
Bivariate genome-wide association study suggests fatty acid desaturase genes and cadherin DCHS2 for variation of both compressive strength index and appendicular lean mass in males.
EBI GWAS Catalog
Common variants at 30 loci contribute to polygenic dyslipidemia.
EBI GWAS Catalog
Discovery and refinement of loci associated with lipid levels.
EBI GWAS Catalog
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
EBI GWAS Catalog
Genetic determinants of P wave duration and PR segment.
EBI GWAS Catalog
Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.
EBI GWAS Catalog
Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes.
EBI GWAS Catalog
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
EBI GWAS Catalog
Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
EBI GWAS Catalog
Genome-wide association of lipid-lowering response to statins in combined study populations.
EBI GWAS Catalog
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
EBI GWAS Catalog
Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
EBI GWAS Catalog
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
EBI GWAS Catalog
Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu
EBI GWAS Catalog
Genome-wide association study identifies three susceptibility loci for laryngeal squamous cell carcinoma in the Chinese population.
EBI GWAS Catalog
Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.
EBI GWAS Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
EBI GWAS Catalog
Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
EBI GWAS Catalog
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
EBI GWAS Catalog
Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.
EBI GWAS Catalog
Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.
EBI GWAS Catalog
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables linoleoyl-CoA desaturase activity TAS
Traceable Author Statement
more info
  
enables 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 IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables stearoyl-CoA 9-desaturase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in alpha-linolenic acid metabolic process TAS
Traceable Author Statement
more info
  
involved_in arachidonate metabolite production involved in inflammatory response IEA
Inferred from Electronic Annotation
more info
  
involved_in linoleic acid metabolic process TAS
Traceable Author Statement
more info
  
involved_in lipid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of cellular response to oxidative stress IEA
Inferred from Electronic Annotation
more info
  
involved_in unsaturated fatty acid biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
located_in membrane HDA PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
acyl-CoA 6-desaturase
Names
delta-6 fatty acid desaturase
delta-6-desaturase
linoleoyl-CoA desaturase (delta-6-desaturase)-like 2
NP_001268430.1
NP_001268431.1
NP_004256.1
XP_047283845.1
XP_054226518.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001281501.1 → NP_001268430.1  acyl-CoA 6-desaturase isoform 2 precursor

    See identical proteins and their annotated locations for NP_001268430.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AA665550, AF084559, AF108658, AK290291, HY090295
    Consensus CDS
    CCDS60807.1
    UniProtKB/Swiss-Prot
    O95864
    Related
    ENSP00000257261.6, ENST00000257261.10
    Conserved Domains (2) summary
    cd03506
    Location:140 → 390
    Delta6-FADS-like; The Delta6 Fatty Acid Desaturase (Delta6-FADS)-like CD includes the integral-membrane enzymes: delta-4, delta-5, delta-6, delta-8, delta-8-sphingolipid, and delta-11 desaturases found in vertebrates, higher plants, fungi, and bacteria. These desaturases ...
    pfam00487
    Location:135 → 396
    FA_desaturase; Fatty acid desaturase

  2. NM_001281502.1 → NP_001268431.1  acyl-CoA 6-desaturase isoform 3

    See identical proteins and their annotated locations for NP_001268431.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AA665550, AF084559, AK299762
    Consensus CDS
    CCDS60808.1
    UniProtKB/Swiss-Prot
    O95864
    Related
    ENSP00000429500.1, ENST00000522056.5
    Conserved Domains (2) summary
    cd03506
    Location:131 → 381
    Delta6-FADS-like; The Delta6 Fatty Acid Desaturase (Delta6-FADS)-like CD includes the integral-membrane enzymes: delta-4, delta-5, delta-6, delta-8, delta-8-sphingolipid, and delta-11 desaturases found in vertebrates, higher plants, fungi, and bacteria. These desaturases ...
    pfam00487
    Location:126 → 387
    FA_desaturase; Fatty acid desaturase

  3. NM_004265.4 → NP_004256.1  acyl-CoA 6-desaturase isoform 1

    See identical proteins and their annotated locations for NP_004256.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AA665550, AF084559
    Consensus CDS
    CCDS8012.1
    UniProtKB/Swiss-Prot
    A8K2M6, B7Z634, O95864, Q6MZQ7, Q96H07, Q96SV8, Q9H3G3, Q9Y3X4
    Related
    ENSP00000278840.4, ENST00000278840.9
    Conserved Domains (2) summary
    cd03506
    Location:162 → 412
    Delta6-FADS-like; The Delta6 Fatty Acid Desaturase (Delta6-FADS)-like CD includes the integral-membrane enzymes: delta-4, delta-5, delta-6, delta-8, delta-8-sphingolipid, and delta-11 desaturases found in vertebrates, higher plants, fungi, and bacteria. These desaturases ...
    cl27737
    Location:1 → 432
    CYB5; Cytochrome b involved in lipid metabolism [Energy production and conversion, Lipid transport and metabolism]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    61816203..61867354
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047427889.1 → XP_047283845.1  acyl-CoA 6-desaturase isoform X1

    UniProtKB/Swiss-Prot
    A8K2M6, B7Z634, O95864, Q6MZQ7, Q96H07, Q96SV8, Q9H3G3, Q9Y3X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    61805120..61856305
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054370543.1 → XP_054226518.1  acyl-CoA 6-desaturase isoform X1

    UniProtKB/Swiss-Prot
    A8K2M6, B7Z634, O95864, Q6MZQ7, Q96H07, Q96SV8, Q9H3G3, Q9Y3X4
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O95864.1 GenPept UniProtKB/Swiss-Prot:O95864

Gene LinkOut

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