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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ACADS Gene

protein-coding   GIFtS: 66
GCID: GC12P121163

Acyl-CoA Dehydrogenase, C-2 To C-3 Short Chain

(Previous names: acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Acyl-CoA Dehydrogenase, C-2 To C-3 Short Chain1 2     Short-Chain Acyl-CoA Dehydrogenase2
SCAD2 3 5     Short-Chain Specific Acyl-CoA Dehydrogenase, Mitochondrial2
Acyl-Coenzyme A Dehydrogenase, C-2 To C-3 Short Chain1 2     Unsaturated Acyl-CoA Reductase2
Butyryl-CoA Dehydrogenase2 3     EC 1.3.8.13
ACAD32     EC 1.3.998
Mitochondrial Short-Chain Specific Acyl-CoA Dehydrogenase2     EC 1.3.99.28

External Ids:    HGNC: 901   Entrez Gene: 352   Ensembl: ENSG000001229717   OMIM: 6068855   UniProtKB: P162193   

Export aliases for ACADS gene to outside databases

Previous GC identifers: GC12M120059 GC12P120761 GC12P120946 GC12P119575 GC12P119547 GC12P119626 GC12P119648 GC12P118172


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ACADS Gene:
This gene encodes a a tetrameric mitochondrial flavoprotein, which is a member of the acyl-CoA dehydrogenase
family. This enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Mutations
in this gene have been associated with Short Chain Acyl-CoA Dehydrogenase Deficiency. (provided by RefSeq, Jul
2008)

GeneCards Summary for ACADS Gene: 
ACADS (acyl-CoA dehydrogenase, C-2 to C-3 short chain) is a protein-coding gene. Diseases associated with ACADS include short-chain acyl-coa dehydrogenase deficiency, and carotid artery dissection, and among its related super-pathways are Metabolic pathways and Fatty Acid Beta Oxidation. GO annotations related to this gene include acyl-CoA dehydrogenase activity and flavin adenine dinucleotide binding. An important paralog of this gene is ACADL.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NT_009775.17  NC_018923.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ACADS gene promoter:
         MAZR   AML1a   AP-2gamma   Gfi-1   MZF-1   PPAR-gamma1   AP-2beta   PPAR-gamma2   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidACADS promoter sequence
   Search SABiosciences Chromatin IP Primers for ACADS

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACADS


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q24.31   Ensembl cytogenetic band:  12q24.31   HGNC cytogenetic band: 12q24.31

ACADS Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACADS gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P121163:  view genomic region     (about GC identifiers)

Start:
121,163,538 bp from pter      End:
121,177,811 bp from pter
Size:
14,274 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ACADS_HUMAN, P16219 (See protein sequence)
Recommended Name: Short-chain specific acyl-CoA dehydrogenase, mitochondrial precursor  
Size: 412 amino acids; 44297 Da
Cofactor: FAD
Subunit: Homotetramer
Subcellular location: Mitochondrion matrix
Miscellaneous: A number of straight-chain acyl-CoA dehydrogenases of different substrate specificities are present
in mammalian tissues
1 PDB 3D structure from and Proteopedia for ACADS:
2VIG (3D)    
Secondary accessions: P78331

Explore the universe of human proteins at neXtProt for ACADS: NX_P16219

Explore proteomics data for ACADS at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P16219

  • 4/11 DME Specific Peptides for ACADS (P16219) (see all 11)
     EIQRLVI  IAMEEISR  QSVELPET  GAGLDYLAY 

    ACADS Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ACADS Protein Expression
    REFSEQ proteins: NP_000008.1  
    ENSEMBL proteins: 
     ENSP00000242592   ENSP00000401045  
    Reactome Protein details: P16219
    Human Recombinant Protein Products for ACADS: 
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    Cloud-Clone Corp. Proteins for ACADS 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA16729965
    GO:0005759mitochondrial matrix TAS--
    GO:0031966mitochondrial membrane IEA--

    ACADS for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/7 InterPro protein domains (see all 7):
     IPR006090 Acyl-CoA_Oxase/DH_1
     IPR009100 AcylCoA_DH/oxidase
     IPR013786 AcylCoA_DH/ox_N
     IPR006091 Acyl-CoA_Oxase/DH_cen-dom
     IPR006089 Acyl-CoA_DH_CS

    Graphical View of Domain Structure for InterPro Entry P16219

    ProtoNet protein and cluster: P16219

    1 Blocks protein domain: IPB006089 Acyl-CoA dehydrogenase

    UniProtKB/Swiss-Prot: ACADS_HUMAN, P16219
    Similarity: Belongs to the acyl-CoA dehydrogenase family


    ACADS for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ACADS_HUMAN, P16219
    Catalytic activity: Butanoyl-CoA + electron-transfer flavoprotein = 2-butenoyl-CoA + reduced electron-transfer
    flavoprotein

         Genatlas biochemistry entry for ACADS:
    acyl-CoA dehydrogenase,short chain (C2-C3),mitochondrial,fatty acid beta-oxidation,with a frequent variant alleles
    511C-T,625G-A together conferring susceptibility to ethylmalonic aciduria

         Enzyme Numbers (IUBMB): EC 1.3.992 EC 1.3.8.11 EC 1.3.99.22

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000062fatty-acyl-CoA binding IEA--
    GO:0003995acyl-CoA dehydrogenase activity TAS--
    GO:0004085butyryl-CoA dehydrogenase activity IEA--
    GO:0016491oxidoreductase activity ----
    GO:0016627oxidoreductase activity, acting on the CH-CH group of donors ----
         
    ACADS for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for ACADS:
     Decreased POU5F1-GFP protein e  Decreased nuclei size in G2M 

         8 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Acads):
     behavior/neurological  cellular  homeostasis/metabolism  integument  liver/biliary system 
     mortality/aging  muscle  renal/urinary system 

    ACADS for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ACADS 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ACADS

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ACADS 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ACADS 

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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate ACADS:
    hsa-miR-4303 hsa-miR-378* hsa-miR-3921
    SwitchGear 3'UTR luciferase reporter plasmidACADS 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ACADS About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    2Fatty Acid Beta Oxidation
    Fatty Acid Beta Oxidation0.35
    Fatty acid degradation0.32
    Mitochondrial LC-Fatty Acid Beta-Oxidation0.35
    3Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA
    Beta oxidation of hexanoyl-CoA to butanoyl-CoA0.67
    Beta oxidation of butanoyl-CoA to acetyl-CoA0.60
    mitochondrial fatty acid beta-oxidation of saturated fatty acids0.62
    Mitochondrial Fatty Acid Beta-Oxidation0.53
    4Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
    Fatty acid, triacylglycerol, and ketone body metabolism0.52
    5Branched-chain amino acid catabolism
    Valine, leucine and isoleucine degradation0.39

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for ACADS
        Fatty Acid Beta Oxidation
    Mitochondrial LC-Fatty Acid Beta-Oxidation


    5/7        Reactome Pathways for ACADS (see all 7)
        mitochondrial fatty acid beta-oxidation of saturated fatty acids
    Metabolism
    Beta oxidation of hexanoyl-CoA to butanoyl-CoA
    Beta oxidation of butanoyl-CoA to acetyl-CoA
    Fatty acid, triacylglycerol, and ketone body metabolism


    4         Kegg Pathways  (Kegg details for ACADS):
        Fatty acid degradation
    Valine, leucine and isoleucine degradation
    Butanoate metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: ACADS_HUMAN, P16219
    Pathway: Lipid metabolism; mitochondrial fatty acid beta-oxidation


    ACADS for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ACADS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    5/19 Interacting proteins for ACADS (P162193 ENSP000002425924) via UniProtKB, MINT, STRING, and/or I2D (see all 19)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRKAA1Q131313I2D: score=1 
    SLC2A4P146723I2D: score=1 
    ACAA1ENSP000003336644STRING: ENSP00000333664
    ACAA2ENSP000002850934STRING: ENSP00000285093
    ACAT1ENSP000002658384STRING: ENSP00000265838
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006635fatty acid beta-oxidation TAS--
    GO:0008152metabolic process ----
    GO:0033539fatty acid beta-oxidation using acyl-CoA dehydrogenase IEA--
    GO:0042594response to starvation IEA--
    GO:0044255cellular lipid metabolic process TAS--

    ACADS for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ACADS for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ACADS

    10/38 HMDB Compounds for ACADS (see all 38)    About this table
    CompoundSynonyms CAS #PubMed Ids
    (2E)-Decenoyl-CoA(E)-S-2-decenoate Coenzyme A (see all 15)10018-95-8--
    (2E)-Dodecenoyl-CoA2-trans-Dodecenoyl-Coenzyme A (see all 4)1066-12-2--
    (2E)-Hexadecenoyl-CoAtrans-2-Hexadecenoyl-CoA (see all 4)4460-95-1--
    (2E)-Octenoyl-CoA(E)-S-2-octenoate Coenzyme A (see all 16)10018-94-7--
    (2E)-Tetradecenoyl-CoA(2E)-Tetradecenoyl-Coenzyme A (see all 8)38795-33-4--
    2-Methylbutyryl-CoA2-methylbutanoyl-CoA (see all 11)6712-02-3--
    2-Methylhexanoyl-CoA2-Methylhexanoyl-CoEnzyme A (see all 5)----
    3Z-dodecenoyl-CoAS-[2-[3-[[(2R)-4-[[[(2R,3R,5R)-5-(6-aminopurin-9-yl)-4-hydroxy-3-phosphonooxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-hydroxyphosphoryl]oxy-2-hydroxy-3,3-dimethylbutanoyl]amino]propanoylamino]ethyl] (Z)-dodec-3-enethioate (see all 4)2152-91-2--
    Acetyl-CoAS-Acetyl coenzyme A (see all 13)72-89-9--
    Acrylyl-CoAAcryloyl coenzyme A (see all 14)5776-58-9--

    3 DrugBank Compounds for ACADS    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Acetoacetyl-Coenzyme A-- 1420-36-6target--17139284 17016423 10592235
    Flavin-Adenine Dinucleotide-- 146-14-5target--17139284 17016423 10592235
    NADHbeta-DPNH (see all 18)606-68-8target--17139284 17016423

    10/15 Novoseek inferred chemical compound relationships for ACADS gene (see all 15)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ethylmalonic acid 97.2 13 9499414 (2), 14595061 (2), 8725270 (1), 16101709 (1) (see all 5)
    butyrylcarnitine 95.9 4 16101709 (1), 12706376 (1), 18054510 (1), 12736383 (1)
    acyl-coa 93.3 104 9250376 (3), 7988059 (3), 8102510 (2), 14506246 (2) (see all 56)
    isobutyryl-carnitine 90 2 16906473 (1), 12736383 (1)
    fatty acid 63.1 16 19625492 (1), 14506246 (1), 16020546 (1), 18175080 (1) (see all 12)
    s-adenosylmethionine 53.9 2 14595061 (1), 12736383 (1)
    carnitine 53.1 1 12736383 (1)
    17beta-hydroxysteroid 43.7 1 11719564 (1)
    riboflavin 40.9 2 9250376 (1), 18836889 (1)
    11beta-hydroxysteroid 36.4 1 1639208 (1)

    Search CenterWatch for drugs/clinical trials and news about ACADS

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    REFSEQ mRNAs for ACADS gene: 
    NM_000017.2  

    Unigene Cluster for ACADS:

    Acyl-CoA dehydrogenase, C-2 to C-3 short chain
    Hs.507076  [show with all ESTs]
    Unigene Representative Sequence: NM_000017
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000242592(uc001tza.4) ENST00000539690 ENST00000411593(uc010szl.1)

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    Additional mRNA sequence: 

    AB527081.1 AK300645.1 BC025963.1 M26393.1 

    5 DOTS entries:

    DT.40215381  DT.95202914  DT.100695162  DT.100763281  DT.92432437 

    24/136 AceView cDNA sequences (see all 136):

    CR596637 BM921277 BM790424 CA430949 BI754165 BM923843 CR604877 CR615642 
    BM700560 BQ448199 CR613518 BE869341 AI953427 BM468073 CR608104 BU539840 
    CR600438 AL557983 BI770149 CR613358 BQ954159 CR606773 CR607224 BI819047 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for ACADS    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b
    SP1:                                -                                             
    SP2:                                -                 -                           
    SP3:                                                                              


    ECgene alternative splicing isoforms for ACADS

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ACADS expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGTGTGACT
    ACADS Expression
    About this image


    See ACADS Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ACADS

    SOURCE GeneReport for Unigene cluster: Hs.507076
        SABiosciences Expression via Pathway-Focused PCR Arrays including ACADS: 
              Fatty Acid Metabolism in human mouse rat
              Amino Acid Metabolism II in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACADS

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ACADS gene from 6/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acads1 , 5 acyl-Coenzyme A dehydrogenase, short chain1, 5 86.65(n)1
    90.53(a)1
      5 (55.99 cM)5
    114091  NM_007383.21  NP_031409.21 
     1151102995 
    chicken
    (Gallus gallus)
    Aves ACADS1 acyl-CoA dehydrogenase, C-2 to C-3 short chain 75.59(n)
    82.24(a)
      416969  NM_001006193.1  NP_001006193.1 
    lizard
    (Anolis carolinensis)
    Reptilia ACADS6
    acyl-CoA dehydrogenase, C-2 to C-3 short chain
    82(a)
    1 ↔ 1
    GL343338.1(190379-199362)
    African clawed frog
    (Xenopus laevis)
    Amphibia acads-prov2 short chain acyl-coenzyme A dehydrogenase 73.55(n)    BC055986.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc44c012 Transcribed sequence with weak similarity to protein more 77.05(n)    57050009 
    fruit fly
    (Drosophila melanogaster)
    Insecta Arc421 , 3 transcription initiation from Pol II
    promoter more3
    Arc421
    69(a)
    (best of 2)3
    69.98(n)1
    70.72(a)1
      92B43
    423641  NM_142583.21  NP_650840.11 


    ENSEMBL Gene Tree for ACADS (if available)
    TreeFam Gene Tree for ACADS (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ACADS gene
    ACADL2  ACAD82  ACADSB2  GCDH2  ACAD112  ACAD92  ACADM2  ACAD102  
    IVD2  ACADVL2  
    10 SIMAP similar genes for ACADS using alignment to 4 protein entries:     ACADS_HUMAN (see all proteins):
    ACADSB    ACAD8    IVD    ACAD9    ACADM    GCDH
    ACADL    ACADVL    DKFZp686M24262    ACAD11

    ACADS for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/467 SNPs in ACADS are shown (see all 467)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0003114
    Acyl-CoA dehydrogenase short-chain deficiency (ACADSD)4--see VAR_0003112 G C mis40--------
    VAR_0003104
    Acyl-CoA dehydrogenase short-chain deficiency (ACADSD)4--see VAR_0003102 R W mis40--------
    VAR_0135654
    Acyl-CoA dehydrogenase short-chain deficiency (ACADSD)4--see VAR_0135652 G S mis40--------
    VAR_0003124
    Acyl-CoA dehydrogenase short-chain deficiency (ACADSD)4--see VAR_0003122 R C mis40--------
    VAR_0135694
    Acyl-CoA dehydrogenase short-chain deficiency (ACADSD)4--see VAR_0135692 R W mis40--------
    rs574436651,2,4
    C,FAcyl-CoA dehydrogenase short-chain deficiency (ACADSD)4 pathogenic1120969206(+) ACTCAC/G/TGGGTT 2 R W mis12NA EU 5257
    rs289408741,2,4
    CAcyl-CoA dehydrogenase short-chain deficiency (ACADSD)4 pathogenic1120969252(+) GGAGGC/TTTCGG 2 A V mis1 ese30--------
    rs289417731,2,4
    C,FAcyl-CoA dehydrogenase short-chain deficiency (ACADSD)4 pathogenic1120970481(+) CGCCTC/TGGAGG 2 S L mis1 ese31Minor allele frequency- T:0.00NA 4432
    rs289408751,2,4
    CAcyl-CoA dehydrogenase short-chain deficiency (ACADSD)4 pathogenic1120970660(+) CAGAGC/TGGCAC 2 R W mis1 ese30--------
    rs289408721,2,4
    C,FAcyl-CoA dehydrogenase short-chain deficiency (ACADSD)4 pathogenic1120970669(+) ACTACC/TGCGAC 2 R C mis1 ese31Minor allele frequency- T:0.00NA 4484

    HapMap Linkage Disequilibrium report for ACADS (121163538 - 121177811 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for ACADS:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1488435CNV Deletion17803354
    esv2746477CNV Deletion23290073
    esv2746476CNV Deletion23290073
    esv1004916CNV Deletion20482838
    nsv899557CNV Loss21882294
    nsv899558CNV Loss21882294
    nsv521928CNV Gain19592680


    Human Gene Mutation Database (HGMD): ACADS
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606885   
    OMIM disorders: 201470  
    UniProtKB/Swiss-Prot: ACADS_HUMAN, P16219
  • Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]: An inborn error of mitochondrial
    fatty acid beta-oxidation resulting in acute acidosis and muscle weakness in infants, and a form of lipid-storage
    myopathy in adults. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/32 diseases for ACADS (see all 32):    About MalaCards
    short-chain acyl-coa dehydrogenase deficiency    carotid artery dissection    ethylmalonic encephalopathy    infantile hypotonia
    isovaleric acidemia    3-methylcrotonyl-coa carboxylase deficiency    diverticulitis    hyperargininemia
    fatty acid oxidation disorders    hypotonia    sudden infant death syndrome    axonal neuropathy
    malignant hyperthermia    metabolic disorders    ophthalmoplegia    ehlers-danlos syndrome
    mitochondrial disorders    vitiligo    autoimmune thyroiditis    myopathy

    4 diseases from the University of Copenhagen DISEASES database for ACADS:
    Diverticulitis     Systemic primary carnitine deficiency disease     Carotid artery dissection     Isovaleric acidemia

    ACADS for disorders           About GeneDecksing

    10/13 Novoseek inferred disease relationships for ACADS gene (see all 13)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    scad deficiency 99.2 91 11134486 (6), 14595061 (5), 14506246 (4), 15534767 (4) (see all 31)
    encephalopathy, ethylmalonic 89.5 2 16906473 (1), 18950661 (1)
    lipid storage myopathy 83.9 1 2260861 (1)
    mcad deficiency 81.5 2 14707514 (1), 18836889 (1)
    aciduria organic 72.1 3 1635815 (2)
    enzyme deficiency 61 1 17072495 (1)
    developmental delay 57.1 1 18950661 (1)
    metabolic disorder 54.3 4 18714517 (1), 11134486 (1), 12706376 (1), 15560374 (1)
    hypoglycemia 47.4 1 15560374 (1)
    myopathy 47 2 20376488 (1), 9932958 (1)

    Genatlas disease: ACADS
    myopathy,lipid storage

    Genetic Association Database (GAD): ACADS
    Human Genome Epidemiology (HuGE) Navigator: ACADS (13 documents)

    Export disorders for ACADS gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ACADS gene, integrated from 9 sources (see all 107):
    (articles sorted by number of sources associating them with ACADS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and nucleotide sequence of complementary DNAs encoding human short chain acyl-coenzyme A dehydrogenase and the study of the molecular basis of human short chain acyl-coenzyme A dehydrogenase deficiency. (PubMed id 2565344)1, 2, 3 Naito E.... Tanaka K. (1989)
    2. Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency. (PubMed id 11134486)1, 2, 9 Corydon M.J.... Gregersen N. (2001)
    3. Structural organization of the human short-chain acyl-CoA dehydrogenase gene. (PubMed id 9383286)1, 2, 9 Corydon M.J.... Gregersen N. (1997)
    4. Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria. (PubMed id 9499414)1, 2, 9 Gregersen N.... Koelvraa S. (1998)
    5. The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots. (PubMed id 15902559)1, 4, 9 van Maldegem B.T....Wijburg F.A. (2005)
    6. The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C(4)-acylcarnitine concentration in newborn blood spots. (PubMed id 12706374)1, 4, 9 Nagan N....Matern D. (2003)
    7. Identification of two variant short chain acyl-coenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short chain acyl-coenzyme A dehydrogenase deficiency. (PubMed id 1692038)1, 2, 9 Naito E.... Tanaka K. (1990)
    8. The minor C-allele of rs2014355 in ACADS is associate d with reduced insulin release following an oral glucose load. (PubMed id 21211036)1, 4 Hornbak M....SandbA (2011)
    9. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    10. Circadian clock gene polymorphisms in alcohol use dis orders and alcohol consumption. (PubMed id 20554694)1, 4 Kovanen L....Partonen T. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 35 HGNC: 90 AceView: ACADS Ensembl:ENSG00000122971 euGenes: HUgn35
    ECgene: ACADS Kegg: 35 H-InvDB: ACADS

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ACADS Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ACADS
    Wikipedia http://en.wikipedia.org/wiki/Butyryl_CoA_dehydrogenase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ACADS gene:
    Search GeneIP for patents involving ACADS

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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