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Aliases & Descriptions for FADS2
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| D6D 1, 2, 3 | | DES6 1, 2 | | EC 1.14.19.- 3 | | FADSD6 1, 2 | | LLCDL2 2 | | SLL0262 1, 2 | | TU13 1, 2 | | delta-6-desaturase 2 |
| | | Descriptions |
|---|
| Delta(6) desaturase 3 | | Delta(6) fatty acid desaturase 3 | | delta-6 fatty acid desaturase 2 | | fatty acid desaturase 2 2 | | linoleoyl-CoA desaturase (delta-6-desaturase)-like 2 2 |
|
| | Search outside databases for aliases for FADS2 genePrevious GC identifers: GC11P064097 GC11P063159 GC11P061834 GC11P061359 |
Summaries for FADS2(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for FADS2: 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 FADS1 and FADS2 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. [provided by RefSeq] UniProtKB/Swiss-Prot: FADS2_HUMAN, O95864Function: 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 |
Genomic Location for FADS2
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the FADS2 gene 
Entrez Gene cytogenetic band: 11q12-q13.1 Ensembl cytogenetic band: 11q12.2 HGNC cytogenetic band: 11q12.2FADS2 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 11 GeneLoc Exon Structure GeneLoc location for GC11P061340:
(about GC identifiers)
Start:
|
61,340,325 bp from pter |
End:
|
61,391,401 bp from pter |
Size:
|
51,077 bases |
Orientation:
|
plus strand |
RefSeq DNA sequence:- NC_000011.8 NT_033903.7
| Proteins for FADS2
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: FADS2_HUMAN, O95864 (See
protein sequence)Recommended Name: Fatty acid desaturase 2 Size: 444 amino acids; 52259 Da
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein (Potential)
Developmental stage: Found in fetal heart
Secondary accessions: Q6MZQ7 Q96H07 Q96SV8 Q9H3G3 Q9Y3X4Alternative splicing: 3 isoforms: O95864-1 O95864-2 O95864-3 REFSEQ proteins: NP_004256.1
ENSEMBL proteins: ENSP00000257261 ENSP00000278840
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
5 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for FADS2: Assays for FADS2: | Protein
Domains/ Families for FADS2(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry O95864
ProtoNet protein and cluster: O95864 1 Blocks protein family: IPB001199 Cytochrome b5
UniProtKB/Swiss-Prot: FADS2_HUMAN, O95864Domain: The histidine box domains may contain the active site and/or be involved in metal ion bindingSimilarity: Belongs to the fatty acid desaturase familySimilarity: Contains 1 cytochrome b5 heme-binding domain | Gene Function for FADS2
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_004265
Applied Biosystems Silencer® siRNAs for FADS2
Sigma-Aldrich siRNA and siRNA Panels for FADS2  Sigma-Aldrich shRNA for FADS2  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_004265                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_004265                                  untagged cDNA clone in CMV expression vector: NM_004265 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_004265
UniProtKB/Swiss-Prot: FADS2_HUMAN, O95864Function: 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 sebumInduction: Repressed by dietary highly unsaturated fatty acidsEnzyme Number (IUBMB): EC 1.14.19.- 6 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Fads2):
3 Gene Ontology (GO) molecular function terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004768 | stearoyl-CoA 9-desaturase activity |
IEA | -- | | GO:0016491 | oxidoreductase activity |
IEA | -- | | GO:0020037 | heme binding |
IEA | -- | About this table | Pathways & Interactions for FADS2
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
| 1 Sigma-Aldrich "Your Favorite Gene" Pathway for FADS2 (Your Favorite Gene powered by Ingenuity) 
UniProtKB/Swiss-Prot: FADS2_HUMAN, O95864Pathway: Lipid metabolism; polyunsaturated fatty acid biosynthesis Gene Network CentralTM Interacting Genes and Proteins Network for FADS2 
5/19 Interacting proteins for FADS2 (O958642 ENSP000002788403) via UniProtKB, MINT, and/or STRING (see all 19
)About this table
3 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for FADS2(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for FADS2 4 Novoseek chemical compound relationships for FADS2 gene
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| parinaric acid |
83.86 |
3 |
15481543 (1), 15966318 (1) |
| alpha-linolenic acid |
75.31 |
10 |
15971598 (1), 12713571 (1), 15481543 (1), 18842780 (1) (see all 5) |
| linoleic acid |
73.18 |
12 |
18842780 (2), 15971598 (1), 12713571 (1), 18936223 (1) (see all 6) |
| fatty acid |
69.70 |
15 |
12951357 (3), 19195843 (2), 11290821 (1), 19148276 (1) (see all 8) |
About this table
|
Transcripts for FADS2(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_004265
Sigma-Aldrich siRNA and siRNA Panels for FADS2  Sigma-Aldrich shRNA for FADS2  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_004265 REFSEQ mRNAs for FADS2 gene: NM_004265.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_004265               OriGene GFP tagged cDNA clone in CMV expression vector: NM_004265                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_004265                                  untagged cDNA clone in CMV expression vector: NM_004265  Additional cDNA sequence: AF084559.1 AF108658.1 AF126799.1 AK027459.1 AK027513.1 AK027577.1 AK074925.1 AK074939.1 AK074991.1 AK123240.1 AK290291.1 AK299762.1 AL050118.1 BC009011.1 CR593148.1 CR599697.1 CR610979.1 CR617384.1 24/31 DOTS entries (see all 31
): DT.100821496 DT.455705 DT.95113197 DT.100821494 DT.100836017 DT.120740171 DT.95094120 DT.120740049 DT.100821504 DT.120740019 DT.120739988 DT.95094121 DT.92456403 DT.120740037 DT.100821499 DT.100830160 DT.120740027 DT.92456410 DT.101968013 DT.101978227 DT.120739976 DT.120740069 DT.120740087 DT.87016735 24/474 AceView cDNA sequences (see all 474
):BP381955 BQ880510 BM682605 AW059622 CF541153 CA489400 AU100330 BG390559 AL530346 AW296357 AL559447 BU174067 AA775443 CR593148 T30521 BG742318 BG696607 Z40715 BM802824 AW191853 BG740405 BU626230 BQ883702 AA662525
highest scoring ESTs for FADS2:AL050118 AA337430 AA339338 AA450134 AA564889 AA593565 AA642634 AA662525 AA665550 AA677778 Unigene Cluster for FADS2: Fatty acid desaturase 2 Hs.502745 [show with all ESTs]Unigene Representative Sequence: NM_004265
GeneLoc Exon Structure
2 Alternative Splicing Database (ASD) splice patterns (SP) for FADS2
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | |
| SP1: | |   | |   | |   | |   | |   | |   | - |   | - |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for FADS2
2 Ensembl transcripts including schematic representations: ENST00000257261
ENST00000278840
|
Expression for FADS2
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| FADS2 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for FADS2
1 / 2 / 3 9 probe-sets matching FADS2 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: TTACTTCCCC
SOURCE GeneReport for Unigene cluster: Hs.502745
Expression variation in blood from EXPOLDB for FADS2 UniProtKB/Swiss-Prot: FADS2_HUMAN, O95864Tissue 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 |
Orthologs for FADS2
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for FADS2 gene from 5/10 species (see all 10
)
About this table Species with no ortholog for FADS2
ENSEMBL Gene Tree for FADS2 | Paralogs for FADS2(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for FADS2 gene
- LOC6431812 FADS12 FADS32
|
SNPs/Variants for FADS2(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for FADS2 (up to first 250kb)
|
Disorders & Mutations for FADS2
(in which this Gene is Involved, According to
OMIM, UniProtKB,
PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 606149
UniProtKB/Swiss-Prot: FADS2_HUMAN, O95864
Defects in FADS2 are the cause of fatty acid delta-6-desaturase deficiency. This deficiency is associated with corneal ulceration, feeding intolerance, growth failure, marked photophobia and skin abnormalities. All of this symptoms significantly improved with a diet supplemented with a mixture of archidonic acid, 20:4(n-6), and docosahexaenoic acid (DHA), 22:6(n-3). The deficiency is caused by mutations in the promoter region of FADS2Human Gene Mutation Database: FADS2 Human Genome Epidemiology Navigator: FADS2 (15 documents)
|
Medical News for FADS2(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for FADS2 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/41 PubMed articles for FADS2 gene (see all 41
):- A nucleotide insertion in the transcriptional regulatory region of FADS2 gives rise to human fatty acid delta-6-desaturase deficiency. (PubMed id 12951357)1, 3, 4 Nwankwo J.O.... Domann F.E. (2003)
- cDNA cloning, genomic structure, and chromosomal localization of three members of the human fatty acid desaturase family. (PubMed id 10860662)1, 3, 4 Marquardt A.... Weber B.H. (2000)
- Identification of the delta-6 desaturase of human sebaceous glands: expression and enzyme activity. (PubMed id 12713571)1, 3, 4 Ge L.... Prouty S.M. (2003)
- Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. (PubMed id 16303743)3, 4 Otsuki T....Isogai T. (2005)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)3, 4 Ota T....Sugano S. (2004)
- Regulation of human delta-6 desaturase gene transcription: identification of a functional direct repeat-1 element. (PubMed id 12562861)3, 4 Tang C.... Clarke S.D. (2003)
- Expression of human delta-6-desaturase is associated with aggressiveness of human breast cancer. (PubMed id 12851727)3, 4 Lane J.... Jiang W.G. (2003)
- The E-box like sterol regulatory element mediates the suppression of human Delta-6 desaturase gene by highly unsaturated fatty acids. (PubMed id 12147235)3, 4 Nara T.Y.... Nakamura M.T. (2002)
- Cloning, expression, and nutritional regulation of the mammalian Delta-6 desaturase. (PubMed id 9867867)3, 4 Cho H.P.... Clarke S.D. (1999)
- Genetic variants of the FADS1 FADS2 gene cluster are associated with altered (n-6) and (n-3) essential fatty acids in plasma and erythrocyte phospholipids in women during pregnancy and in breast milk during lactation. (PubMed id 18936223)1, 3 Xie L. and Innis S.M. (2008)
|
Search for FADS2
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing FADS2
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing FADS2
(According to HUGE)
About This Section
| -- |
Specialized Databases showing FADS2(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| About This Section
| --
| Services for FADS2(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for FADS2:

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Incremental update: 13 Oct 2009
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