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Aliases for ACADS Gene

Aliases for ACADS Gene

  • Acyl-CoA Dehydrogenase Short Chain 2 3 5
  • Acyl-Coenzyme A Dehydrogenase, C-2 To C-3 Short Chain 2 3
  • Butyryl-CoA Dehydrogenase 3 4
  • SCAD 3 4
  • Short-Chain Specific Acyl-CoA Dehydrogenase, Mitochondrial 3
  • Mitochondrial Short-Chain Specific Acyl-CoA Dehydrogenase 3
  • Acyl-CoA Dehydrogenase, C-2 To C-3 Short Chain 3
  • Unsaturated Acyl-CoA Reductase 3
  • EC 4
  • ACAD3 3

External Ids for ACADS Gene

Previous GeneCards Identifiers for ACADS Gene

  • GC12M120059
  • GC12P120761
  • GC12P120946
  • GC12P119575
  • GC12P119547
  • GC12P119626
  • GC12P119648
  • GC12P121163
  • GC12P118172
  • GC12P120762
  • GC12P120768
  • GC12P120774

Summaries for ACADS Gene

Entrez Gene Summary for ACADS Gene

  • This gene encodes 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 (SCAD) deficiency. Alternative splicing results in two variants which encode different isoforms. [provided by RefSeq, Oct 2014]

GeneCards Summary for ACADS Gene

ACADS (Acyl-CoA Dehydrogenase Short Chain) is a Protein Coding gene. Diseases associated with ACADS include Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of and Encephalopathy, Ethylmalonic. Among its related pathways are Mitochondrial Fatty Acid Beta-Oxidation and Metabolism. Gene Ontology (GO) annotations related to this gene include flavin adenine dinucleotide binding and fatty-acyl-CoA binding. An important paralog of this gene is ACADSB.

UniProtKB/Swiss-Prot for ACADS Gene

  • Introduces a double bond at position 2 in saturated acyl-CoAs of short chain length, i.e. less than 6 carbon atoms.

Additional gene information for ACADS Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACADS Gene

Genomics for ACADS Gene

GeneHancer (GH) Regulatory Elements for ACADS Gene

Promoters and enhancers for ACADS Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J120724 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 667.4 +0.2 191 2.2 HDGF ATF1 ARID4B SIN3A DMAP1 ZNF48 YY1 ZNF280A ZNF121 POLR2B ACADS RPL31P52 ANAPC5 KDM2B UNC119B PIRC56
GH12J120901 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 29.7 +177.8 177826 3.6 HDGF PKNOX1 CLOCK FOXA2 MLX ARNT ARID4B SIN3A DMAP1 YY1 SPPL3 ACADS ANAPC5 GCN1 SETD1B ENSG00000272849 C12orf43 ARF1P2
GH12J120683 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 27.2 -38.3 -38287 7.3 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 YBX1 ZNF2 MLEC LOC105370029 GCN1 ACADS ANAPC5 RPL31P52 PXN RAB35 ENSG00000256569 C12orf43
GH12J120833 Enhancer 1.1 Ensembl ENCODE dbSUPER 40.3 +109.0 108986 3.1 MEIS2 PKNOX1 ZNF146 ZSCAN4 EBF1 GATA3 ZNF366 SCRT2 ZSCAN5C RUNX3 ACADS SPPL3 ENSG00000256569 C12orf43 MORN3 PIR38395 ENSG00000255946
GH12J120905 Enhancer 1 Ensembl ENCODE dbSUPER 40.3 +181.1 181127 2.3 GATAD2A NFIA SAP130 TEAD1 HLF CEBPB HMG20A ZNF644 RARA TEAD3 ACADS ENSG00000256569 HNF1A-AS1 C12orf43 SPPL3 ENSG00000272849 CLIC1P1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACADS on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ACADS gene promoter:
  • Gfi-1
  • AP-2gamma
  • AP-2beta
  • AP-2alphaA
  • AP-2alpha
  • PPAR-gamma2
  • PPAR-gamma1
  • AML1a
  • MZF-1
  • MAZR

Genomic Locations for ACADS Gene

Genomic Locations for ACADS Gene
14,274 bases
Plus strand
14,274 bases
Plus strand

Genomic View for ACADS Gene

Genes around ACADS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACADS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACADS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACADS Gene

Proteins for ACADS Gene

  • Protein details for ACADS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Short-chain specific acyl-CoA dehydrogenase, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • P78331

    Protein attributes for ACADS Gene

    412 amino acids
    Molecular mass:
    44297 Da
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Homotetramer.
    • A number of straight-chain acyl-CoA dehydrogenases of different substrate specificities are present in mammalian tissues.

    Three dimensional structures from OCA and Proteopedia for ACADS Gene

neXtProt entry for ACADS Gene

Post-translational modifications for ACADS Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ACADS Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ACADS Gene

Domains & Families for ACADS Gene

Gene Families for ACADS Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the acyl-CoA dehydrogenase family.
  • Belongs to the acyl-CoA dehydrogenase family.
genes like me logo Genes that share domains with ACADS: view

Function for ACADS Gene

Molecular function for ACADS Gene

UniProtKB/Swiss-Prot Function:
Introduces a double bond at position 2 in saturated acyl-CoAs of short chain length, i.e. less than 6 carbon atoms.
UniProtKB/Swiss-Prot CatalyticActivity:
A short-chain acyl-CoA + electron-transfer flavoprotein = a short-chain trans-2,3-dehydroacyl-CoA + reduced electron-transfer flavoprotein.
GENATLAS Biochemistry:
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) for ACADS Gene

Phenotypes From GWAS Catalog for ACADS Gene

Gene Ontology (GO) - Molecular Function for ACADS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003995 acyl-CoA dehydrogenase activity TAS --
GO:0004085 butyryl-CoA dehydrogenase activity IEA --
GO:0016491 oxidoreductase activity IEA --
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors IEA --
GO:0050660 flavin adenine dinucleotide binding IEA --
genes like me logo Genes that share ontologies with ACADS: view
genes like me logo Genes that share phenotypes with ACADS: view

Human Phenotype Ontology for ACADS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for ACADS Gene

miRTarBase miRNAs that target ACADS

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACADS

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for ACADS Gene

Localization for ACADS Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACADS Gene

Mitochondrion matrix.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACADS gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 3
cytoskeleton 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ACADS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 21630459
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA 16729965
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with ACADS: view

Pathways & Interactions for ACADS Gene

genes like me logo Genes that share pathways with ACADS: view

UniProtKB/Swiss-Prot P16219-ACADS_HUMAN

  • Pathway: Lipid metabolism; mitochondrial fatty acid beta-oxidation.

Gene Ontology (GO) - Biological Process for ACADS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006635 fatty acid beta-oxidation TAS --
GO:0008152 metabolic process IEA --
GO:0033539 fatty acid beta-oxidation using acyl-CoA dehydrogenase IDA 3597357
genes like me logo Genes that share ontologies with ACADS: view

No data available for SIGNOR curated interactions for ACADS Gene

Drugs & Compounds for ACADS Gene

(17) Drugs for ACADS Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma Target 0
NADH Approved Nutra Target 0
Gimeracil Approved Pharma Dihydropyrimidine dehydrogenase inhibitor 0
Mycophenolate mofetil Approved, Investigational Pharma IMPDH inhibitor 987
Stiripentol Approved Pharma An LDH inhibitor 9

(47) Additional Compounds for ACADS Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (e)-S-2-Decenoate
  • (e)-S-2-Decenoate CoA
  • (e)-S-2-Decenoate coenzyme A
  • (e)-S-2-Decenoic acid
  • 2-trans-Decenoyl-CoA
  • (e)-C16:1 N-14-CoA
  • (e)-Hexadec-2-enoyl-CoA tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A(4-)
  • trans-2-Hexadecenoyl-CoA(4-)
  • (e)-S-2-Octenoate
  • (e)-S-2-Octenoate CoA
  • (e)-S-2-Octenoate coenzyme A
  • (e)-S-2-Octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
  • (2E)-Tetradecenoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-CoA
  • trans-Tetra-dec-2-enoyl-coa.
  • trans-Tetra-dec-2-enoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-coenzyme A.
genes like me logo Genes that share compounds with ACADS: view

Transcripts for ACADS Gene

mRNA/cDNA for ACADS Gene

(2) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(136) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ACADS Gene

Acyl-CoA dehydrogenase, C-2 to C-3 short chain:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACADS

Alternative Splicing Database (ASD) splice patterns (SP) for ACADS Gene

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

Relevant External Links for ACADS Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ACADS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ACADS Gene

mRNA differential expression in normal tissues according to GTEx for ACADS Gene

This gene is overexpressed in Liver (x7.8) and Muscle - Skeletal (x4.9).

Protein differential expression in normal tissues from HIPED for ACADS Gene

This gene is overexpressed in Liver (10.7) and Nasopharynx (9.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ACADS Gene

Protein tissue co-expression partners for ACADS Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ACADS Gene:


SOURCE GeneReport for Unigene cluster for ACADS Gene:


Evidence on tissue expression from TISSUES for ACADS Gene

  • Liver(4.5)
  • Eye(4.2)
  • Intestine(2.2)
  • Muscle(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ACADS Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cranial nerve
  • ear
  • face
  • head
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • pelvis
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
  • peripheral nervous system
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with ACADS: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for ACADS Gene

Orthologs for ACADS Gene

This gene was present in the common ancestor of animals.

Orthologs for ACADS Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ACADS 34 33
  • 99.03 (n)
(Ornithorhynchus anatinus)
Mammalia ACADS 34
  • 90 (a)
(Bos Taurus)
Mammalia ACADS 34 33
  • 88.67 (n)
(Canis familiaris)
Mammalia ACADS 34 33
  • 87.97 (n)
(Mus musculus)
Mammalia Acads 16 34 33
  • 86.65 (n)
(Rattus norvegicus)
Mammalia Acads 33
  • 86.08 (n)
(Monodelphis domestica)
Mammalia ACADS 34
  • 84 (a)
(Gallus gallus)
Aves ACADS 34 33
  • 75.59 (n)
(Anolis carolinensis)
Reptilia ACADS 34
  • 82 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia acads 33
  • 71.3 (n)
MGC76107 33
African clawed frog
(Xenopus laevis)
Amphibia acads-prov 33
(Danio rerio)
Actinopterygii acads 34 33
  • 70.44 (n)
wufc44c01 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8763 33
fruit fly
(Drosophila melanogaster)
Insecta Arc42 34 35 33
  • 69.98 (n)
CG4860 34 35
  • 56 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001951 33
  • 69.16 (n)
(Caenorhabditis elegans)
Secernentea C37A2.3 35
  • 33 (a)
C02D5.1 35
  • 32 (a)
acdh-5 34
  • 29 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6600 34
  • 29 (a)
Cin.6004 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6004 33
Species where no ortholog for ACADS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ACADS Gene

Gene Tree for ACADS (if available)
Gene Tree for ACADS (if available)
Evolutionary constrained regions (ECRs) for ACADS: view image

Paralogs for ACADS Gene

Paralogs for ACADS Gene

(10) SIMAP similar genes for ACADS Gene using alignment to 4 proteins:

  • E9PE82_HUMAN
genes like me logo Genes that share paralogs with ACADS: view

Variants for ACADS Gene

Sequence variations from dbSNP and Humsavar for ACADS Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1035363801 uncertain-significance, Deficiency of butyryl-CoA dehydrogenase 120,737,089(+) T/A coding_sequence_variant, missense_variant
rs1057516231 likely-pathogenic, Deficiency of butyryl-CoA dehydrogenase 120,737,835(+) A/G intron_variant, splice_acceptor_variant
rs1057516385 likely-pathogenic, Deficiency of butyryl-CoA dehydrogenase 120,737,090(+) C/ coding_sequence_variant, frameshift
rs1057516421 likely-pathogenic, Deficiency of butyryl-CoA dehydrogenase 120,739,373(+) TG/ coding_sequence_variant, frameshift
rs1057516436 likely-pathogenic, Deficiency of butyryl-CoA dehydrogenase 120,738,327(+) GGGG/GGGGG coding_sequence_variant, frameshift

Structural Variations from Database of Genomic Variants (DGV) for ACADS Gene

Variant ID Type Subtype PubMed ID
esv1004916 CNV deletion 20482838
esv1488435 CNV deletion 17803354
esv2746476 CNV deletion 23290073
esv2746477 CNV deletion 23290073
esv3168645 CNV deletion 24192839
esv3630931 CNV loss 21293372
nsv521928 CNV gain 19592680

Variation tolerance for ACADS Gene

Residual Variation Intolerance Score: 39.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.63; 82.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACADS Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACADS Gene

Disorders for ACADS Gene

MalaCards: The human disease database

(15) MalaCards diseases for ACADS Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ACADS in MalaCards View complete list of genes associated with diseases


  • 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. {ECO:0000269 PubMed:11134486, ECO:0000269 PubMed:1692038, ECO:0000269 PubMed:9499414}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for ACADS Gene

myopathy,lipid storage

Additional Disease Information for ACADS

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ACADS: view

Publications for ACADS Gene

  1. The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots. (PMID: 15902559) van Maldegem BT … Wijburg FA (Journal of inherited metabolic disease 2005) 3 22 44 58
  2. 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. (PMID: 12706374) Nagan N … Matern D (Molecular genetics and metabolism 2003) 3 22 44 58
  3. Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency. (PMID: 11134486) Corydon MJ … Gregersen N (Pediatric research 2001) 3 4 22 58
  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. (PMID: 9499414) Gregersen N … Kølvraa S (Human molecular genetics 1998) 3 4 22 58
  5. Structural organization of the human short-chain acyl-CoA dehydrogenase gene. (PMID: 9383286) Corydon MJ … Gregersen N (Mammalian genome : official journal of the International Mammalian Genome Society 1997) 3 4 22 58

Products for ACADS Gene

Sources for ACADS Gene

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