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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, Mitochondrial 3
  • Isovaleryl CoA Dehydrogenase 2
  • EC 1.3.99.10 61
  • EC 1.3.8.4 4
  • EC 1.3.99 61
  • 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 Valproic Acid Pathway, Pharmacokinetics. GO annotations related to this gene include flavin adenine dinucleotide binding and acyl-CoA dehydrogenase activity. An important paralog of this gene is ACADS.

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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15F040420 1 Ensembl ENCODE 32 +15.8 15826 2.3 ARID4B ZNF48 RAD21 ZNF121 GLIS2 ZNF143 CREM KLF13 ZNF654 CEBPB KNSTRN IVD DISP2 PHGR1 C15orf52 RNA5SP392 ANKRD63 RPLP0P10 PLCB2 CHST14
GH15F040408 0.2 ENCODE 31 +1.8 1790 0.2 HLF ZNF524 IVD KNSTRN PHGR1 C15orf52 RNA5SP392 DISP2 RPLP0P10 PLCB2 CHST14 RPL9P27
GH15F040435 1.1 Ensembl ENCODE 25.3 +33.5 33532 7.8 PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 ZNF48 GLIS2 FOS SP3 SP5 KNSTRN DISP2 IVD C15orf57 CHST14 RPL9P27 PHGR1 C15orf52 RNA5SP392 RPLP0P10
GH15F040372 0.2 Ensembl 25.1 -32.5 -32485 1.2 ARID1B TAL1 NFE2 TRIM24 SPI1 KNSTRN IVD ENSG00000259368
GH15F040366 0.6 Ensembl ENCODE 24.8 -37.8 -37785 2.6 ATF1 CREB3L1 ZFP64 ARID4B DMAP1 ZNF48 SLC30A9 GLIS2 ELK1 ZNF143 KNSTRN DISP2 IVD RAD51-AS1 ENSG00000259211 EIF2AK4 ENSG00000259368
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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
ENSR00000126952 315 1601 TBP PKNOX1 ARID4B SIN3A DMAP1 ZNF48 DNMT3B RFX5 YY1 GATA4

Genomic Location for IVD Gene

Chromosome:
15
Start:
40,405,485 bp from pter
End:
40,435,948 bp from pter
Size:
30,464 bases
Orientation:
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:
    P26440-IVD_HUMAN
    Recommended name:
    Isovaleryl-CoA dehydrogenase, mitochondrial
    Protein Accession:
    P26440
    Secondary Accessions:
    • B2RCV5
    • B3KVI7
    • J3KR54
    • Q53XZ9
    • Q96AF6

    Protein attributes for IVD Gene

    Size:
    423 amino acids
    Molecular mass:
    46319 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Homotetramer.
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for IVD Gene

Selected DME Specific Peptides for IVD Gene

P26440:
  • EPNAGSD
  • KLDKLGMRGS
  • KGVYVLMSGLDLERLVLA
  • FQLMQGKMADMYTRLMA
  • LRDAKLYEIGAGTSE
  • IGALAMSEPNAGSDVVSM
  • FKNLREFWKQLG
  • RGSNTCE
  • VLVMEEISR
  • GTSEVRRLVIGRAFNADF

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

P26440

UniProtKB/Swiss-Prot:

IVD_HUMAN :
  • Belongs to the acyl-CoA dehydrogenase family.
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:0003995 acyl-CoA dehydrogenase activity IEA --
GO:0008470 isovaleryl-CoA dehydrogenase activity EXP,ISS --
GO:0009055 electron carrier activity IBA --
GO:0016491 oxidoreductase activity IEA --
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

Inhibitory RNA Products

Flow Cytometry 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

COMPARTMENTS
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

Gene Ontology (GO) - Cellular Components for IVD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IBA,IDA --
GO:0005759 mitochondrial matrix TAS --
GO:0031966 mitochondrial membrane IEA --
genes like me logo Genes that share ontologies with IVD: view

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.

Interacting Proteins for IVD Gene

Gene Ontology (GO) - Biological Process for IVD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006552 leucine catabolic process IEA,ISS --
GO:0008152 metabolic process IEA --
GO:0009083 branched-chain amino acid catabolic process TAS --
GO:0033539 fatty acid beta-oxidation using acyl-CoA dehydrogenase IBA --
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
(2E)-Decenoyl-CoA
  • (E)-S-2-decenoate
  • (E)-S-2-decenoate CoA
  • (E)-S-2-decenoate Coenzyme A
  • (E)-S-2-decenoic acid
  • 2-trans-Decenoyl-CoA
10018-95-8
(2E)-Dodecenoyl-CoA
  • (2E)-Dodec-2-enoyl-CoA
  • (2E)-Dodec-2-enoyl-Coenzyme A
  • 2-trans-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-Coenzyme A
  • trans-2-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-Coenzyme A
4460-95-1
(2E)-Octenoyl-CoA
  • (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
10018-94-7
(2E)-Tetradecenoyl-CoA
  • (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
38795-33-4
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:

Inhibitory RNA Products

Flow Cytometry Products

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: -
SP4:
SP5: -
SP6: -

Relevant External Links for IVD Gene

GeneLoc Exon Structure for
IVD
ECgene alternative splicing isoforms for
IVD

Expression for IVD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for IVD Gene



Protein tissue co-expression partners for IVD Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of IVD Gene:

IVD

SOURCE GeneReport for Unigene cluster for IVD Gene:

Hs.513646
genes like me logo Genes that share expression patterns with IVD: view

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
chimpanzee
(Pan troglodytes)
Mammalia IVD 34 35
  • 99.68 (n)
cow
(Bos Taurus)
Mammalia IVD 34 35
  • 89.36 (n)
dog
(Canis familiaris)
Mammalia IVD 34 35
  • 89.13 (n)
rat
(Rattus norvegicus)
Mammalia Ivd 34
  • 87.81 (n)
mouse
(Mus musculus)
Mammalia Ivd 34 16 35
  • 87.33 (n)
oppossum
(Monodelphis domestica)
Mammalia IVD 35
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IVD 35
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves IVD 34 35
  • 78.03 (n)
lizard
(Anolis carolinensis)
Reptilia IVD 35
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ivd 34
  • 73.85 (n)
Str.3367 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.3037 34
zebrafish
(Danio rerio)
Actinopterygii ivd 34 35
  • 70.18 (n)
Dr.203 34
fruit fly
(Drosophila melanogaster)
Insecta CG6638 36 34 35
  • 63.16 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006780 34
  • 61.77 (n)
worm
(Caenorhabditis elegans)
Secernentea C02B10.1 36
  • 66 (a)
ivd-1 34 35
  • 63.1 (n)
C02D5.1 36
  • 31 (a)
C37A2.3 36
  • 30 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons IVD 34
  • 60.55 (n)
soybean
(Glycine max)
eudicotyledons Gma.16423 34
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.8864 34
rice
(Oryza sativa)
Liliopsida Os05g0125500 34
  • 62.12 (n)
Os.28409 34
barley
(Hordeum vulgare)
Liliopsida Hv.1939 34
wheat
(Triticum aestivum)
Liliopsida Ta.27596 34
corn
(Zea mays)
Liliopsida Zm.8990 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3391 35
  • 68 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU02126 34
  • 59.84 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3948 34
Species where no ortholog for IVD was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for IVD (if available)
TreeFam:
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
rs142761835 Isovaleric acidemia (IVA) [MIM:243500], Pathogenic 40,410,699(+) CTTCC(A/G)GAGCA nc-transcript-variant, reference, missense
rs28940889 Isovaleric acidemia (IVA) [MIM:243500], Pathogenic 40,415,454(+) GGAAG(C/T)CTTTG nc-transcript-variant, reference, missense
VAR_000423 Isovaleric acidemia (IVA) [MIM:243500]
VAR_000424 Isovaleric acidemia (IVA) [MIM:243500]
VAR_015960 Isovaleric acidemia (IVA) [MIM:243500]

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

Variant ID Type Subtype PubMed ID
esv2749600 CNV deletion 23290073
esv34145 CNV loss 18971310
nsv510660 CNV deletion 20534489

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)
IVD
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IVD

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

UniProtKB/Swiss-Prot

IVD_HUMAN
  • 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)
IVD
Human Genome Epidemiology (HuGE) Navigator
IVD
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IVD
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 64
  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 4 22 64
  3. Clinical variability of isovaleric acidemia in a genetically homogeneous population. (PMID: 22350545) Dercksen M. … Wanders R.J. (J. Inherit. Metab. Dis. 2012) 3 4 64
  4. Human metabolic individuality in biomedical and pharmaceutical research. (PMID: 21886157) Suhre K. … Gieger C. (Nature 2011) 3 46 64
  5. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M. … Yamada Y. (Am. J. Hypertens. 2010) 3 46 64

Products for IVD Gene

Sources for IVD Gene

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