Gene Gene information from NCBI Gene database.
Entrez ID 3712
Gene name Isovaleryl-CoA dehydrogenase
Gene symbol IVD
Synonyms (NCBI Gene)
ACAD2IVDH
Chromosome 15
Chromosome location 15q15.1
Summary 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.
64
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.
829
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0003995 Function Acyl-CoA dehydrogenase activity IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005654 Component Nucleoplasm IDA
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607036 6186 ENSG00000128928
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
757
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Likely pathogenic; Pathogenic rs1477527791 RCV005900151
Isovaleric acidemia, type I Pathogenic; Likely pathogenic rs121434284, rs121434285 RCV000003743
RCV000003744
Isovaleric acidemia, type III Likely pathogenic; Pathogenic rs786204613 RCV002284192
Isovaleryl-CoA dehydrogenase deficiency Likely pathogenic; Pathogenic rs1221254988, rs771914739, rs1057517056, rs1193235415, rs878909737, rs2141290050, rs2141304438, rs544110604, rs781340220, rs2141332040, rs2141289961, rs2141332016, rs2141301396, rs2141329244, rs1891640609
View all (118 more)
RCV001366950
RCV001378700
RCV001378050
RCV001377640
RCV004798914
RCV001782321
RCV001782322
RCV002542366
RCV001823529
RCV002030902
RCV001939420
RCV002005384
RCV002044763
RCV001884650
RCV001976611
RCV001994636
RCV001922350
RCV001941546
RCV001943987
RCV002008952
RCV002283641
RCV000169054
RCV002306513
RCV002309560
RCV002309913
RCV002307866
RCV002307911
RCV002308197
RCV002309046
RCV002309312
RCV002306968
RCV002307022
RCV002307196
RCV002310212
RCV000984276
RCV000003748
RCV000003749
RCV000169289
RCV000169022
RCV000169016
RCV000169373
RCV003041220
RCV003041221
RCV002628309
RCV000762946
RCV001779516
RCV001376756
RCV000412245
RCV003009102
RCV003146747
RCV003146754
RCV003226014
RCV001004404
RCV000674322
RCV001859652
RCV003324447
RCV003469872
RCV003469873
RCV003461756
RCV003461757
RCV003461758
RCV003461759
RCV003461761
RCV003461762
RCV003461763
RCV003461764
RCV003469875
RCV003469876
RCV003469877
RCV003461765
RCV003469878
RCV003461766
RCV003461767
RCV003501187
RCV003501725
RCV003501717
RCV003500429
RCV003607827
RCV003607933
RCV003607931
RCV003608138
RCV003608090
RCV003608267
RCV003608404
RCV003607074
RCV003831395
RCV003843743
RCV003873563
RCV003872181
RCV003990890
RCV004576765
RCV004576766
RCV000409035
RCV000412035
RCV000411182
RCV000410639
RCV000410323
RCV000408999
RCV000409066
RCV000412119
RCV003144292
RCV000540901
RCV000555769
RCV000527532
RCV000546725
RCV000526058
RCV000634868
RCV000634867
RCV000665281
RCV000666222
RCV000674343
RCV000666290
RCV000667869
RCV000673634
RCV000665831
RCV000665469
RCV000667342
RCV000668022
RCV000668527
RCV000692024
RCV000714868
RCV004569413
RCV000761533
RCV000984025
RCV000800024
RCV000808800
RCV000989288
RCV000989289
RCV000989290
RCV001056208
RCV001071786
RCV001060066
RCV001070596
RCV001070595
RCV001047853
RCV001170022
RCV001230646
RCV001239347
RCV000178176
RCV000178177
RCV000178862
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Conflicting classifications of pathogenicity rs145999491 RCV005893358
Cholangiocarcinoma Benign rs112366697, rs875767 RCV005923385
RCV005923830
Gastric cancer Benign rs112366697, rs875767 RCV005923383
RCV005923828
Hepatocellular carcinoma Uncertain significance rs189587579 RCV005924307
Associations from Text MiningDisease associations identified through Pubtator
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