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

Summary

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: mouse all
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Genomic context

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_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed
An atlas of genetic influences on human blood metabolites. EBI GWAS Catalog EBI GWAS CatalogPubMed
Biological, clinical and population relevance of 95 loci for blood lipids. EBI GWAS Catalog EBI GWAS CatalogPubMed
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 EBI GWAS CatalogPubMed
Common variants at 30 loci contribute to polygenic dyslipidemia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic determinants of P wave duration and PR segment. EBI GWAS Catalog EBI GWAS CatalogPubMed
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 EBI GWAS CatalogPubMed
Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetics of rheumatoid arthritis contributes to biology and drug discovery. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association of lipid-lowering response to statins in combined study populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies multiple loci influencing human serum metabolite levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. EBI GWAS Catalog EBI GWAS CatalogPubMed
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 EBI GWAS CatalogPubMed
Genome-wide association study identifies three susceptibility loci for laryngeal squamous cell carcinoma in the Chinese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
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 EBI GWAS CatalogPubMed
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH11733 (e-PCR)
- UniSTS:19805

STS-T78856 (e-PCR)
- UniSTS:82321

D11S2768 (e-PCR)
- UniSTS:151970

D11S2771 (e-PCR)
- UniSTS:151972

SHGC-84003 (e-PCR)
- UniSTS:104630

STS-Z40715 (e-PCR)
- UniSTS:703

D11S699 (e-PCR)
- UniSTS:148166

D11S2574 (e-PCR)
- UniSTS:67553

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 more info	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

EC 1.14.19.3

NP_001268431.1

EC 1.14.19.3

NP_004256.1

EC 1.14.19.3

XP_047283845.1

EC 1.14.19.3

XP_054226518.1

EC 1.14.19.3

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)

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
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
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]