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Aliases for IVD Gene

Aliases for IVD Gene

  • Isovaleryl-CoA Dehydrogenase 2 3 5
  • Isovaleryl Coenzyme A Dehydrogenase 2 3
  • Isovaleryl CoA Dehydrogenase 2 3
  • EC 63
  • EC 4
  • EC 1.3.99 63
  • ACAD2 3

External Ids for IVD Gene

Previous GeneCards Identifiers for IVD Gene

  • GC15P036065
  • GC15P033593
  • GC15P038276
  • GC15P038413
  • GC15P038484
  • GC15P040697
  • GC15P017541

Summaries for IVD Gene

Entrez Gene Summary for IVD Gene

  • Isovaleryl-CoA dehydrogenase (IVD) is a mitochondrial matrix enzyme that catalyzes the third step in leucine catabolism. The genetic deficiency of IVD results in an accumulation of isovaleric acid, which is toxic to the central nervous system and leads to isovaleric acidemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]

GeneCards Summary for IVD Gene

IVD (Isovaleryl-CoA Dehydrogenase) is a Protein Coding gene. Diseases associated with IVD include Isovaleric Acidemia and Bone Deterioration Disease. Among its related pathways are Metabolism and Viral mRNA Translation. GO annotations related to this gene include flavin adenine dinucleotide binding and acyl-CoA dehydrogenase activity. An important paralog of this gene is ACAD8.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IVD Gene

Genomics for IVD Gene

Regulatory Elements for IVD Gene

Enhancers for IVD Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around IVD on UCSC Golden Path with GeneCards custom track

Promoters for IVD Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around IVD on UCSC Golden Path with GeneCards custom track

Genomic Location for IVD Gene

40,405,485 bp from pter
40,435,948 bp from pter
30,464 bases
Plus strand

Genomic View for IVD Gene

Genes around IVD on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for IVD Gene

Proteins for IVD Gene

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

    Protein Symbol:
    Recommended name:
    Isovaleryl-CoA dehydrogenase, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • B2RCV5
    • B3KVI7
    • J3KR54
    • Q53XZ9
    • Q96AF6

    Protein attributes for IVD Gene

    423 amino acids
    Molecular mass:
    46319 Da
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Homotetramer.
    • Sequence=BAG53799.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=EAW92413.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=EAW92414.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=EAW92415.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for IVD Gene

    Alternative splice isoforms for IVD Gene


neXtProt entry for IVD Gene

Proteomics data for IVD Gene at MOPED

Post-translational modifications for IVD Gene

  • Ubiquitination at Lys 55
  • Modification sites at PhosphoSitePlus

Domains & Families for IVD Gene

Gene Families for IVD Gene

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 IVD: view

Function for IVD Gene

Molecular function for IVD Gene

GENATLAS Biochemistry:
isovaleryl-CoA dehydrogenase,branched chain,leucine catabolism
UniProtKB/Swiss-Prot CatalyticActivity:
Isovaleryl-CoA + electron-transfer flavoprotein = 3-methylcrotonyl-CoA + reduced electron-transfer flavoprotein.

Enzyme Numbers (IUBMB) for IVD Gene

Gene Ontology (GO) - Molecular Function for IVD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000062 fatty-acyl-CoA binding IBA --
GO:0050660 flavin adenine dinucleotide binding IEA,IBA --
genes like me logo Genes that share ontologies with IVD: view
genes like me logo Genes that share phenotypes with IVD: view

Human Phenotype Ontology for IVD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IVD Gene

MGI Knock Outs for IVD:
  • Ivd tm1b(EUCOMM)Hmgu

Animal Model Products

No data available for Transcription Factor Targets and HOMER Transcription for IVD Gene

Localization for IVD Gene

Subcellular locations from UniProtKB/Swiss-Prot for IVD Gene

Mitochondrion matrix.

Subcellular locations from

Jensen Localization Image for IVD Gene COMPARTMENTS Subcellular localization image for IVD gene
Compartment Confidence
mitochondrion 5
nucleus 3
cytosol 2
extracellular 2
cytoskeleton 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for IVD Gene

Pathways & Interactions for IVD Gene

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

Pathways by source for IVD Gene

UniProtKB/Swiss-Prot P26440-IVD_HUMAN

  • Pathway: Amino-acid degradation; L-leucine degradation; (S)-3-hydroxy-3-methylglutaryl-CoA from 3-isovaleryl-CoA: step 1/3.

Gene Ontology (GO) - Biological Process for IVD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process IEA --
GO:0033539 fatty acid beta-oxidation using acyl-CoA dehydrogenase IBA --
GO:0034641 cellular nitrogen compound metabolic process TAS --
GO:0055088 lipid homeostasis IBA --
genes like me logo Genes that share ontologies with IVD: view

No data available for SIGNOR curated interactions for IVD Gene

Drugs & Compounds for IVD Gene

(3) Drugs for IVD Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma Target 0
Coenzyme a Persulfide Experimental Pharma Target 0
Propionyl-CoA Experimental Pharma 0

(34) Additional Compounds for IVD Gene - From: HMDB

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
  • (2E)-Dodec-2-enoyl-CoA
  • (2E)-Dodec-2-enoyl-Coenzyme A
  • 2-trans-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
  • (2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-Coenzyme A
  • trans-2-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-Coenzyme A
  • (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-CoA
  • (2E)-Tetradecenoyl-Coenzyme A
  • Trans-tetra-dec-2-enoyl-CoA
  • Trans-tetra-dec-2-enoyl-CoA.
  • Trans-tetra-dec-2-enoyl-Coenzyme A
genes like me logo Genes that share compounds with IVD: view

Transcripts for IVD Gene

Unigene Clusters for IVD Gene

Isovaleryl-CoA dehydrogenase:
Representative Sequences:

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

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13a · 13b
SP1: - - - -
SP2: - - -
SP3: -
SP5: -
SP6: -

Relevant External Links for IVD Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for IVD Gene

mRNA expression in normal human tissues for IVD Gene

Protein differential expression in normal tissues from HIPED for IVD Gene

This gene is overexpressed in Liver (7.1) and Adrenal (6.2).

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

SOURCE GeneReport for Unigene cluster for IVD Gene Hs.513646

genes like me logo Genes that share expression patterns with IVD: view

Protein tissue co-expression partners for IVD Gene

- Elite partner

Primer Products

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

Orthologs for IVD Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for IVD Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia IVD 35
  • 89.36 (n)
  • 91.96 (a)
IVD 36
  • 91 (a)
(Canis familiaris)
Mammalia IVD 35
  • 89.13 (n)
  • 91.25 (a)
IVD 36
  • 91 (a)
(Mus musculus)
Mammalia Ivd 35
  • 87.33 (n)
  • 90.5 (a)
Ivd 16
Ivd 36
  • 90 (a)
(Pan troglodytes)
Mammalia IVD 35
  • 99.68 (n)
  • 99.53 (a)
IVD 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Ivd 35
  • 87.81 (n)
  • 90.97 (a)
(Monodelphis domestica)
Mammalia IVD 36
  • 83 (a)
(Ornithorhynchus anatinus)
Mammalia IVD 36
  • 55 (a)
(Gallus gallus)
Aves IVD 35
  • 78.03 (n)
  • 88.13 (a)
IVD 36
  • 84 (a)
(Anolis carolinensis)
Reptilia IVD 36
  • 79 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ivd 35
  • 73.85 (n)
  • 80.87 (a)
Str.3367 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.3037 35
(Danio rerio)
Actinopterygii Dr.203 35
ivd 35
  • 70.18 (n)
  • 76.94 (a)
ivd 36
  • 73 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6638 37
  • 66 (a)
CG6638 35
  • 63.16 (n)
  • 65.91 (a)
CG6638 36
  • 63 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006780 35
  • 61.77 (n)
  • 63.51 (a)
(Caenorhabditis elegans)
Secernentea C02B10.1 37
  • 66 (a)
C02D5.1 37
  • 31 (a)
C37A2.3 37
  • 30 (a)
ivd-1 35
  • 63.1 (n)
  • 67.18 (a)
ivd-1 36
  • 64 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons IVD 35
  • 60.55 (n)
  • 65.76 (a)
(Glycine max)
eudicotyledons Gma.16423 35
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.8864 35
(Hordeum vulgare)
Liliopsida Hv.1939 35
(Oryza sativa)
Liliopsida Os.28409 35
Os05g0125500 35
  • 62.12 (n)
  • 65.01 (a)
(Triticum aestivum)
Liliopsida Ta.27596 35
(Zea mays)
Liliopsida Zm.8990 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3948 35
bread mold
(Neurospora crassa)
Ascomycetes NCU02126 35
  • 59.84 (n)
  • 61.46 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3391 36
  • 68 (a)
Species with no ortholog for IVD:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for IVD Gene

Gene Tree for IVD (if available)
Gene Tree for IVD (if available)

Paralogs for IVD Gene

Paralogs for IVD Gene

genes like me logo Genes that share paralogs with IVD: view

Variants for IVD Gene

Sequence variations from dbSNP and Humsavar for IVD Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
VAR_000423 Isovaleric acidemia (IVA)
VAR_000424 Isovaleric acidemia (IVA)
VAR_015960 Isovaleric acidemia (IVA)
VAR_015961 Isovaleric acidemia (IVA)
rs28940889 Isovaleric acidemia (IVA) 40,415,454(+) GGAAG(C/T)CTTTG nc-transcript-variant, reference, missense, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
esv34145 CNV Loss 18971310
nsv510660 CNV Loss 20534489
esv2749600 CNV Deletion 23290073

Variation tolerance for IVD Gene

Residual Variation Intolerance Score: 30.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.70; 32.46% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IVD Gene

Human Gene Mutation Database (HGMD)

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

Disorders for IVD Gene

MalaCards: The human disease database

(11) MalaCards diseases for IVD Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
isovaleric acidemia
  • isovaleric acid coa dehydrogenase deficiency
bone deterioration disease
bone structure disease
acute endophthalmitis
purulent endophthalmitis
- elite association - COSMIC cancer census association via MalaCards
Search IVD in MalaCards View complete list of genes associated with diseases


  • Isovaleric acidemia (IVA) [MIM:243500]: A metabolic disorder characterized by retarded psychomotor development, a peculiar odor resembling sweaty feet, an aversion to dietary protein, and pernicious vomiting, leading to acidosis and coma. The acute neonatal form leads to massive metabolic acidosis from the first days of life and rapid death. {ECO:0000269 PubMed:2063866, ECO:0000269 PubMed:22004070, ECO:0000269 PubMed:22350545, ECO:0000269 PubMed:23587913, ECO:0000269 PubMed:9665741}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for IVD Gene

isovalericacidemia (IVD deficiency),recurrent acidosis,with ketosis,mild hyperammonemia,lethargy and coma,sweety feet during episodes

Relevant External Links for IVD

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with IVD: view

Publications for IVD Gene

  1. Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia. (PMID: 2063866) Vockley J. … Tanaka K. (Am. J. Hum. Genet. 1991) 2 3 4 67
  2. Nucleotide sequence of messenger RNA encoding human isovaleryl- coenzyme A dehydrogenase and its expression in isovaleric acidemia fibroblasts. (PMID: 2318964) Matsubara Y. … Tanaka K. (J. Clin. Invest. 1990) 3 23
  3. Kinetic and spectral properties of isovaleryl-CoA dehydrogenase and interaction with ligands. (PMID: 25450250) Mohsen A.W. … Vockley J. (Biochimie 2015) 3
  4. Phenotypic Variability and Newly Identified Mutations of the IVD Gene in Japanese Patients with Isovaleric Acidemia. (PMID: 26018748) Sakamoto O. … Kure S. (Tohoku J. Exp. Med. 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for IVD Gene

Sources for IVD Gene