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 have been found for this gene. [provided by RefSeq, Aug 2017] See more...

Aliases for IVD Gene

Aliases for IVD Gene

  • Isovaleryl-CoA Dehydrogenase 2 3 5
  • Isovaleryl-CoA Dehydrogenase, Mitochondrial 3 4
  • Isovaleryl Coenzyme A Dehydrogenase 2 3
  • Butyryl-CoA Dehydrogenase 3 4
  • ACAD2 2 3
  • Epididymis Secretory Sperm Binding Protein 3
  • Isovaleryl CoA Dehydrogenase 2
  • EC 1.3.99.10 51
  • EC 1.3.8.4 4
  • EC 1.3.8.1 4
  • EC 1.3.99 51
  • IVD 5

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 have been found for this gene. [provided by RefSeq, Aug 2017]

GeneCards Summary for IVD Gene

IVD (Isovaleryl-CoA Dehydrogenase) is a Protein Coding gene. Diseases associated with IVD include Isovaleric Acidemia and Esophagus Sarcoma. Among its related pathways are Valproic acid pathway and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include flavin adenine dinucleotide binding and acyl-CoA dehydrogenase activity. An important paralog of this gene is ACADS.

UniProtKB/Swiss-Prot Summary for IVD Gene

  • Catalyzes the conversion of isovaleryl-CoA/3-methylbutanoyl-CoA to 3-methylbut-2-enoyl-CoA as an intermediate step in the leucine (Leu) catabolic pathway (PubMed:7640268). To a lesser extent, is also able to catalyze the oxidation of other saturated short-chain acyl-CoA thioesters as pentanoyl-CoA, hexenoyl-CoA and butenoyl-CoA (PubMed:7640268).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IVD Gene

Genomics for IVD Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for IVD Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J040405 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 630.9 +0.8 830 2.6 SP1 ZNF692 POLR2A FOS LARP7 RBFOX2 TCF12 PBX2 YY1 IRF3 IVD INO80 KNSTRN BAHD1 PHGR1 CCDC9B RNA5SP392 DISP2 RPLP0P10 PLCB2
GH15J040403 Enhancer 0.2 Ensembl 609 -1.8 -1772 0.6 IVD CCDC32 piR-38344-049 KNSTRN
GH15J040356 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 24.3 -48.1 -48084 3.6 HNRNPL REST ZNF692 BACH1 LARP7 ZNF143 PHF21A ZIC2 POLR2A PATZ1 DISP2 KNSTRN IVD PAK6 NONHSAG016591.2 PHGR1 ENSG00000259368
GH15J040436 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 25.3 +34.1 34116 7.2 SP1 PRDM10 LEF1 IKZF1 KDM1A BACH1 FOS LARP7 MTA2 ZIC2 BAHD1 KNSTRN DISP2 IVD CCDC32 CHST14 RPL9P27 PHGR1 CCDC9B RNA5SP392
GH15J040322 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 21.8 -66.7 -66748 33.3 BRCA1 SP1 HNRNPL GATAD2A CTCF ATF7 TEAD4 PRDM10 REST ZNF629 DISP2 CCDC9B KNSTRN IVD ENSG00000259211 INO80 BAHD1 ANKRD63 DNAJC17 RPLP0P10
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IVD on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IVD

Top Transcription factor binding sites by QIAGEN in the IVD gene promoter:
  • CBF(2)
  • CBF-A
  • CBF-B
  • CP1A
  • CP2
  • MyoD
  • NF-1
  • NF-Y
  • NF-YA
  • RORalpha2

Genomic Locations for IVD Gene

Genomic Locations for IVD Gene
chr15:40,405,485-40,435,948
(GRCh38/hg38)
Size:
30,464 bases
Orientation:
Plus strand
chr15:40,697,686-40,728,146
(GRCh37/hg19)
Size:
30,461 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:
    426 amino acids
    Molecular mass:
    46651 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Homotetramer.
    SequenceCaution:
    • Sequence=AAA52711.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAB92584.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH17202.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAG37702.1; Type=Erroneous initiation; Note=Truncated N-terminus.; 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 Lys58
  • Modification sites at PhosphoSitePlus

Domains & Families for IVD Gene

Gene Families for IVD Gene

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

Suggested Antigen Peptide Sequences for IVD Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ16602 fis, clone TESTI4007816, highly similar to Isovaleryl-CoA dehydrogenase, mitochondrial (EC 1.3.99.10) (B3KVI7_HUMAN)
  • Isovaleryl-CoA dehydrogenase, mitochondrial (IVD_HUMAN)
  • Isovaleryl-CoA dehydrogenase (O43577_HUMAN)

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

UniProtKB/Swiss-Prot Function:
Catalyzes the conversion of isovaleryl-CoA/3-methylbutanoyl-CoA to 3-methylbut-2-enoyl-CoA as an intermediate step in the leucine (Leu) catabolic pathway (PubMed:7640268). To a lesser extent, is also able to catalyze the oxidation of other saturated short-chain acyl-CoA thioesters as pentanoyl-CoA, hexenoyl-CoA and butenoyl-CoA (PubMed:7640268).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3-methylbutanoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = 3-methylbut-2-enoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:12276, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57344, ChEBI:CHEBI:57345, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307; EC=1.3.8.4; Evidence={ECO:0000269|PubMed:7640268};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + oxidized [electron-transfer flavoprotein] + pentanoyl-CoA = (2E)-pentenoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:43456, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57389, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:86160; Evidence={ECO:0000269|PubMed:7640268};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + hexanoyl-CoA + oxidized [electron-transfer flavoprotein] = (2E)-hexenoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:43464, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:62077, ChEBI:CHEBI:62620; Evidence={ECO:0000269|PubMed:7640268};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=butanoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = (2E)-butenoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:24004, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57332, ChEBI:CHEBI:57371, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307; EC=1.3.8.1; Evidence={ECO:0000269|PubMed:7640268};.
GENATLAS Biochemistry:
isovaleryl-CoA dehydrogenase,branched chain,leucine catabolism

Enzyme Numbers (IUBMB) for IVD Gene

Phenotypes From GWAS Catalog for IVD Gene

Gene Ontology (GO) - Molecular Function for IVD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003995 acyl-CoA dehydrogenase activity IEA --
GO:0004085 butyryl-CoA dehydrogenase activity IEA --
GO:0008470 isovaleryl-CoA dehydrogenase activity TAS,ISS --
GO:0016491 oxidoreductase activity IEA --
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors 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 Ivd<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

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
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 IVD gene
Compartment Confidence
mitochondrion 5
nucleus 3
cytosol 3
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IVD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IBA --
GO:0005759 mitochondrial matrix NAS,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.

Gene Ontology (GO) - Biological Process for IVD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006552 leucine catabolic process IEA,ISS --
GO:0009083 branched-chain amino acid catabolic process TAS --
GO:0033539 fatty acid beta-oxidation using acyl-CoA dehydrogenase IDA 3597357
GO:0055114 oxidation-reduction process IEA --
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

(19) Drugs for IVD Gene - From: DrugBank, ClinicalTrials, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma Target 0
Apixaban Approved Pharma Factor Xa inhibitor 273
Dalteparin Approved Pharma 454
Xylometazoline Approved, Investigational Pharma 97
Coenzyme A persulfide Experimental Pharma Target 0

(33) 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
1066-12-2
(2E)-Hexadecenoyl-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-)
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-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.
38795-33-4
genes like me logo Genes that share compounds with IVD: view

Transcripts for IVD Gene

mRNA/cDNA for IVD Gene

7 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

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

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

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, MaxQB, and MOPED for IVD Gene



Protein tissue co-expression partners for IVD Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IVD

SOURCE GeneReport for Unigene cluster for IVD Gene:

Hs.513646

Evidence on tissue expression from TISSUES for IVD Gene

  • Nervous system(4.9)
  • Liver(4.6)
  • Blood(4.5)
  • Lung(3.4)
  • Muscle(2.8)
  • Heart(2.8)
  • Kidney(2.6)
  • Skin(2.5)
  • Thyroid gland(2.3)
  • Intestine(2.2)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • lymphatic
  • nervous
  • urinary
Regions:
Head and neck:
  • brain
  • head
Thorax:
  • esophagus
Abdomen:
  • kidney
  • stomach
General:
  • blood
  • bone marrow
  • coagulation system
  • red blood cell
  • white blood cell
genes like me logo Genes that share expression patterns with IVD: view

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 30 31
  • 99.68 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia IVD 30 31
  • 89.36 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia IVD 30 31
  • 89.13 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ivd 30
  • 87.81 (n)
Mouse
(Mus musculus)
Mammalia Ivd 30 17 31
  • 87.33 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia IVD 31
  • 83 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia IVD 31
  • 55 (a)
OneToOne
Chicken
(Gallus gallus)
Aves IVD 30 31
  • 78.03 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia IVD 31
  • 79 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ivd 30
  • 73.85 (n)
Str.3367 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.3037 30
Zebrafish
(Danio rerio)
Actinopterygii ivd 30 31
  • 70.18 (n)
OneToOne
Dr.203 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG6638 30 31 32
  • 63.16 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006780 30
  • 61.77 (n)
Worm
(Caenorhabditis elegans)
Secernentea C02B10.1 32
  • 66 (a)
ivd-1 30 31
  • 63.1 (n)
OneToOne
C02D5.1 32
  • 31 (a)
C37A2.3 32
  • 30 (a)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons IVD 30
  • 60.55 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.8864 30
Soybean
(Glycine max)
eudicotyledons Gma.16423 30
Rice
(Oryza sativa)
Liliopsida Os05g0125500 30
  • 62.12 (n)
Os.28409 30
Barley
(Hordeum vulgare)
Liliopsida Hv.1939 30
Wheat
(Triticum aestivum)
Liliopsida Ta.27596 30
Corn
(Zea mays)
Liliopsida Zm.8990 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.3391 31
  • 68 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU02126 30
  • 59.84 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.3948 30
Species where no ortholog for IVD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for IVD: view image

Paralogs for IVD Gene

(9) SIMAP similar genes for IVD Gene using alignment to 9 proteins:

  • IVD_HUMAN
  • H0YKV0_HUMAN
  • H0YLC3_HUMAN
  • H0YN10_HUMAN
  • H0YNA4_HUMAN
  • H0YNT5_HUMAN
  • H7C4G6_HUMAN
  • J3KR54_HUMAN
  • O43577_HUMAN
genes like me logo Genes that share paralogs with IVD: view

Variants for IVD Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IVD Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
635282 Likely Pathogenic: Isovaleryl-CoA dehydrogenase deficiency 40,415,405(+) A/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
645855 Uncertain Significance: Isovaleryl-CoA dehydrogenase deficiency 40,416,336(+) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
646307 Uncertain Significance: Isovaleryl-CoA dehydrogenase deficiency 40,407,972(+) T/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
648047 Uncertain Significance: Isovaleryl-CoA dehydrogenase deficiency 40,407,639(+) C/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
653100 Pathogenic: Isovaleryl-CoA dehydrogenase deficiency 40,407,947(+) G/A NONSENSE,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for IVD Gene

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)

Additional Variant Information for IVD Gene

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

SNP Genotyping and Copy Number Assay Products

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: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
isovaleric acidemia
  • iva
esophagus sarcoma
  • esophageal sarcoma
esophageal tuberculosis
  • tuberculosis of esophagus
salivary gland carcinoma
  • salivary gland cancer
metabolic acidosis
- 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:28535199, 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

Additional Disease Information for IVD

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 (American journal of human genetics 1991) 2 3 4
  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 (The Journal of clinical investigation 1990) 3 4 23
  3. Clinical variability of isovaleric acidemia in a genetically homogeneous population. (PMID: 22350545) Dercksen M … Wanders RJ (Journal of inherited metabolic disease 2012) 3 4
  4. Human metabolic individuality in biomedical and pharmaceutical research. (PMID: 21886157) Suhre K … Gieger C (Nature 2011) 3 41
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41

Products for IVD Gene

  • Signalway Proteins for IVD

Sources for IVD Gene