ID:FADS2_HUMAN DESCRIPTION: RecName: Full=Fatty acid desaturase 2; EC=1.14.19.-; AltName: Full=Delta(6) fatty acid desaturase; Short=D6D; Short=Delta(6) desaturase; Short=Delta-6 desaturase; 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. PATHWAY: Lipid metabolism; polyunsaturated fatty acid biosynthesis. SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein (Potential). 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. DEVELOPMENTAL STAGE: Found in fetal heart. INDUCTION: Repressed by dietary highly unsaturated fatty acids. DOMAIN: The histidine box domains may contain the active site and/or be involved in metal ion binding. SIMILARITY: Belongs to the fatty acid desaturase family. SIMILARITY: Contains 1 cytochrome b5 heme-binding domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O95864
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006629 lipid metabolic process GO:0006631 fatty acid metabolic process GO:0006633 fatty acid biosynthetic process GO:0006636 unsaturated fatty acid biosynthetic process GO:0036109 alpha-linolenic acid metabolic process GO:0043651 linoleic acid metabolic process GO:0055114 oxidation-reduction process
Cellular Component: GO:0005783 endoplasmic reticulum GO:0005789 endoplasmic reticulum membrane GO:0005887 integral component of plasma membrane GO:0016020 membrane GO:0016021 integral component of membrane
Descriptions from all associated GenBank mRNAs
BX640945 - Homo sapiens mRNA; cDNA DKFZp686H20132 (from clone DKFZp686H20132). AK290291 - Homo sapiens cDNA FLJ75199 complete cds, highly similar to Homo sapiens p5327 mRNA. AF108658 - Homo sapiens p5327 mRNA, complete cds. AK074991 - Homo sapiens cDNA FLJ90510 fis, clone NT2RP3004309, highly similar to Fatty acid desaturase 2. AK299762 - Homo sapiens cDNA FLJ56373 complete cds, highly similar to Homo sapiens fatty acid desaturase 2 (FADS2), mRNA. LF211247 - JP 2014500723-A/18750: Polycomb-Associated Non-Coding RNAs. AF084559 - Homo sapiens fatty acid desaturase 2 (FADS2) mRNA, complete cds. BC009011 - Homo sapiens fatty acid desaturase 2, mRNA (cDNA clone MGC:17124 IMAGE:4181037), complete cds. AK074939 - Homo sapiens cDNA FLJ90458 fis, clone NT2RP3001738, highly similar to Fatty acid desaturase 2. AF126799 - Homo sapiens delta-6 fatty acid desaturase mRNA, complete cds. KJ901972 - Synthetic construct Homo sapiens clone ccsbBroadEn_11366 FADS2 gene, encodes complete protein. AB529115 - Synthetic construct DNA, clone: pF1KB4708, Homo sapiens FADS2 gene for fatty acid desaturase 2, without stop codon, in Flexi system. MA446824 - JP 2018138019-A/18750: Polycomb-Associated Non-Coding RNAs. JD395241 - Sequence 376265 from Patent EP1572962. JD407878 - Sequence 388902 from Patent EP1572962. JD535565 - Sequence 516589 from Patent EP1572962. JD484978 - Sequence 466002 from Patent EP1572962. JD513103 - Sequence 494127 from Patent EP1572962. LF345031 - JP 2014500723-A/152534: Polycomb-Associated Non-Coding RNAs. JD375314 - Sequence 356338 from Patent EP1572962. JD227811 - Sequence 208835 from Patent EP1572962. DQ582828 - Homo sapiens piRNA piR-32940, complete sequence. LF345030 - JP 2014500723-A/152533: Polycomb-Associated Non-Coding RNAs. MA580608 - JP 2018138019-A/152534: Polycomb-Associated Non-Coding RNAs. MA580607 - JP 2018138019-A/152533: Polycomb-Associated Non-Coding RNAs. LF345026 - JP 2014500723-A/152529: Polycomb-Associated Non-Coding RNAs. LF345025 - JP 2014500723-A/152528: Polycomb-Associated Non-Coding RNAs. AL050118 - Homo sapiens mRNA; cDNA DKFZp586C201 (from clone DKFZp586C201); partial cds. AK074925 - Homo sapiens cDNA FLJ90444 fis, clone NT2RP3001159, highly similar to Homo sapiens fatty acid desaturase 2 (FADS2), mRNA. LF345023 - JP 2014500723-A/152526: Polycomb-Associated Non-Coding RNAs. LF345021 - JP 2014500723-A/152524: Polycomb-Associated Non-Coding RNAs. DL492246 - Novel nucleic acids. LF345020 - JP 2014500723-A/152523: Polycomb-Associated Non-Coding RNAs. AK123240 - Homo sapiens cDNA FLJ41246 fis, clone BRAMY2032696, highly similar to Homo sapiens fatty acid desaturase 2 (FADS2), mRNA. AK027577 - Homo sapiens cDNA FLJ14671 fis, clone NT2RP2003466, highly similar to Homo sapiens fatty acid desaturase 2 (FADS2), mRNA. AK027513 - Homo sapiens cDNA FLJ14607 fis, clone NT2RP1000609. AK027459 - Homo sapiens cDNA FLJ14553 fis, clone NT2RM2001785, highly similar to Homo sapiens fatty acid desaturase 2 (FADS2), mRNA. LF345016 - JP 2014500723-A/152519: Polycomb-Associated Non-Coding RNAs. LF345015 - JP 2014500723-A/152518: Polycomb-Associated Non-Coding RNAs. JD229667 - Sequence 210691 from Patent EP1572962. JD223553 - Sequence 204577 from Patent EP1572962. JD427284 - Sequence 408308 from Patent EP1572962. JD234560 - Sequence 215584 from Patent EP1572962. JD207001 - Sequence 188025 from Patent EP1572962. JD167046 - Sequence 148070 from Patent EP1572962. JD526075 - Sequence 507099 from Patent EP1572962. JD404259 - Sequence 385283 from Patent EP1572962. JD415907 - Sequence 396931 from Patent EP1572962. JD220515 - Sequence 201539 from Patent EP1572962. JD161358 - Sequence 142382 from Patent EP1572962. JD390255 - Sequence 371279 from Patent EP1572962. JD541714 - Sequence 522738 from Patent EP1572962. JD483380 - Sequence 464404 from Patent EP1572962. JD398851 - Sequence 379875 from Patent EP1572962. JD323614 - Sequence 304638 from Patent EP1572962. JD400363 - Sequence 381387 from Patent EP1572962. JD066466 - Sequence 47490 from Patent EP1572962. JD122501 - Sequence 103525 from Patent EP1572962. JD393394 - Sequence 374418 from Patent EP1572962. JD210243 - Sequence 191267 from Patent EP1572962. JD024817 - Sequence 5841 from Patent EP1572962. JD456647 - Sequence 437671 from Patent EP1572962. JD121796 - Sequence 102820 from Patent EP1572962. JD300064 - Sequence 281088 from Patent EP1572962. JD033793 - Sequence 14817 from Patent EP1572962. JD479297 - Sequence 460321 from Patent EP1572962. JD077097 - Sequence 58121 from Patent EP1572962. JD278101 - Sequence 259125 from Patent EP1572962. JD134783 - Sequence 115807 from Patent EP1572962. JD535727 - Sequence 516751 from Patent EP1572962. JD446005 - Sequence 427029 from Patent EP1572962. JD548870 - Sequence 529894 from Patent EP1572962. JD049982 - Sequence 31006 from Patent EP1572962. JD296854 - Sequence 277878 from Patent EP1572962. JD174777 - Sequence 155801 from Patent EP1572962. JD061024 - Sequence 42048 from Patent EP1572962. JD455528 - Sequence 436552 from Patent EP1572962. JD177911 - Sequence 158935 from Patent EP1572962. JD439235 - Sequence 420259 from Patent EP1572962. JD222574 - Sequence 203598 from Patent EP1572962. JD540681 - Sequence 521705 from Patent EP1572962. LF345014 - JP 2014500723-A/152517: Polycomb-Associated Non-Coding RNAs. JD199213 - Sequence 180237 from Patent EP1572962. JD436386 - Sequence 417410 from Patent EP1572962. JD178404 - Sequence 159428 from Patent EP1572962. JD340152 - Sequence 321176 from Patent EP1572962. JD218394 - Sequence 199418 from Patent EP1572962. JD205858 - Sequence 186882 from Patent EP1572962. JD466707 - Sequence 447731 from Patent EP1572962. JD311455 - Sequence 292479 from Patent EP1572962. LF345013 - JP 2014500723-A/152516: Polycomb-Associated Non-Coding RNAs. JD254882 - Sequence 235906 from Patent EP1572962. JD532723 - Sequence 513747 from Patent EP1572962. JD054648 - Sequence 35672 from Patent EP1572962. JD186077 - Sequence 167101 from Patent EP1572962. MA580603 - JP 2018138019-A/152529: Polycomb-Associated Non-Coding RNAs. MA580602 - JP 2018138019-A/152528: Polycomb-Associated Non-Coding RNAs. MA580600 - JP 2018138019-A/152526: Polycomb-Associated Non-Coding RNAs. MA580598 - JP 2018138019-A/152524: Polycomb-Associated Non-Coding RNAs. MA580597 - JP 2018138019-A/152523: Polycomb-Associated Non-Coding RNAs. MA580593 - JP 2018138019-A/152519: Polycomb-Associated Non-Coding RNAs. MA580592 - JP 2018138019-A/152518: Polycomb-Associated Non-Coding RNAs. MA580591 - JP 2018138019-A/152517: Polycomb-Associated Non-Coding RNAs. MA580590 - JP 2018138019-A/152516: Polycomb-Associated Non-Coding RNAs.
Biochemical and Signaling Pathways
BioCyc Knowledge Library PWY-6000 - γ-linolenate biosynthesis PWY-7049 - icosapentaenoate biosynthesis II (6-desaturase, mammals) PWY-7592 - arachidonate biosynthesis III (6-desaturase, mammals) PWY-7606 - docosahexaenoate biosynthesis III (6-desaturase, mammals) PWY-7724 - icosapentaenoate biosynthesis III (8-desaturase, mammals) PWY-7725 - arachidonate biosynthesis V (8-detaturase, mammals) PWY-7727 - docosahexaenoate biosynthesis IV (4-desaturase, mammals) PWY-7728 - (4Z,7Z,10Z,13Z,16Z)-docosa-4,7,10,13,16-pentaenoate biosynthesis II (4-desaturase)
Reactome (by CSHL, EBI, and GO)
Protein O95864 (Reactome details) participates in the following event(s):
R-HSA-2046084 Desaturation of alpha-linoleoyl-CoA to Stearidonoyl-CoA R-HSA-2046096 Desaturation of Linoleoyl-CoA to gamma-linolenoyl-CoA R-HSA-2046097 Desaturation of tetracosatetraenoyl-CoA to tetracosapentaenoyl-CoA R-HSA-2046099 Desaturation of tetracosapentaenoyl-CoA to tetracosahexaenoyl-CoA R-HSA-2046106 alpha-linolenic acid (ALA) metabolism R-HSA-2046105 Linoleic acid (LA) metabolism R-HSA-2046104 alpha-linolenic (omega3) and linoleic (omega6) acid metabolism R-HSA-8978868 Fatty acid metabolism R-HSA-556833 Metabolism of lipids R-HSA-1430728 Metabolism
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
