Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3712
Gene name Gene Name - the full gene name approved by the HGNC.
Isovaleryl-CoA dehydrogenase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IVD
Synonyms (NCBI Gene) Gene synonyms aliases
ACAD2, IVDH
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q15.1
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs2229311 G>A,C,T Pathogenic-likely-pathogenic Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs28940889 C>T Pathogenic Non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant
rs34695403 C>G,T Uncertain-significance, likely-pathogenic Non coding transcript variant, intron variant, missense variant, coding sequence variant
rs121434284 T>C Pathogenic Coding sequence variant, upstream transcript variant, missense variant, genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant
rs121434285 G>T Uncertain-significance, pathogenic Non coding transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT022872 hsa-miR-124-3p Microarray 18668037
MIRT052426 hsa-let-7a-5p CLASH 23622248
MIRT051477 hsa-let-7e-5p CLASH 23622248
MIRT041643 hsa-miR-484 CLASH 23622248
MIRT041124 hsa-miR-503-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004085 Function Butyryl-CoA dehydrogenase activity IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005759 Component Mitochondrial matrix ISS
GO:0005759 Component Mitochondrial matrix TAS
GO:0006552 Process Leucine catabolic process IDA 7640268
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607036 6186 ENSG00000128928
Protein
UniProt ID P26440
Protein name Isovaleryl-CoA dehydrogenase, mitochondrial (IVD) (EC 1.3.8.4) (Butyryl-CoA dehydrogenase) (EC 1.3.8.1)
Protein 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 satur
PDB 1IVH , 8SGR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02771 Acyl-CoA_dh_N 46 160 Acyl-CoA dehydrogenase, N-terminal domain Domain
PF02770 Acyl-CoA_dh_M 164 261 Acyl-CoA dehydrogenase, middle domain Domain
PF00441 Acyl-CoA_dh_1 273 421 Acyl-CoA dehydrogenase, C-terminal domain Domain
Sequence
Sequence length 426
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Valine, leucine and isoleucine degradation
Metabolic pathways
  Branched-chain amino acid catabolism
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Isovaleric acidemia Isovaleric acidemia rs121434284
Isovaleryl-coa dehydrogenase deficiency Isovaleryl-CoA dehydrogenase deficiency rs34695403, rs28940889, rs398123682, rs398123683, rs398123684, rs142761835, rs2229311, rs786204427, rs771914739, rs786204613, rs763471771, rs747273828, rs748026507, rs796051983, rs371427844
View all (41 more)
1310317, 24019846, 22960500, 27629047, 22004070, 22350545, 24637313, 20519759, 2063866, 6630517, 2318964, 17027310, 23587913, 9665741, 15486829
View all (15 more)
Pancytopenia Pancytopenia rs869312883, rs770551610, rs1131690788, rs530073586, rs374333820
Unknown
Disease term Disease name Evidence References Source
Hyperglycinuria HYPERGLYCINURIA (disorder) ClinVar
Myocardial infarction Myocardial Infarction 21211798 ClinVar
Pulmonary Fibrosis Pulmonary Fibrosis GWAS
Associations from Text Mining
Disease Name Relationship Type References
Acidemia isovaleric Inhibit 10713113, 8468053
Acidemia isovaleric Associate 15486829, 17576084, 20519759, 2063866, 24637313, 26018748, 34535384, 3863140
Developmental Disabilities Associate 20519759
Idiopathic Pulmonary Fibrosis Associate 25275363, 31339356
Pulmonary Fibrosis Associate 25275363, 37930192