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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
22
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cervical cancer Likely pathogenic; Pathogenic rs1477527791 RCV005900151
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Isovaleric acidemia, type I Pathogenic; Likely pathogenic rs121434284, rs121434285 RCV000003743
RCV000003744
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Isovaleric acidemia, type III Likely pathogenic; Pathogenic rs786204613 RCV002284192
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
View all (136 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMINO ACID METABOLISM, INBORN ERRORS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arteriosclerosis Arteriosclerosis BEFREE 31751427
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 31751427
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 21122130
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Developmental disability Pubtator 20519759 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes Mellitus BEFREE 31201565
★☆☆☆☆
Found in Text Mining only
Global developmental delay Developmental Delay HPO_DG
★☆☆☆☆
Found in Text Mining only
HYPERGLYCINURIA (disorder) Hyperglycinuria HPO_DG
★☆☆☆☆
Found in Text Mining only
Idiopathic Pulmonary Fibrosis Idiopathic pulmonary fibrosis Pubtator 25275363, 31339356 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Intervertebral Disc Degeneration Intervertebral Disc Degeneration BEFREE 26162271, 28665183, 31201565
★☆☆☆☆
Found in Text Mining only
Isovaleric acidemia Isovaleric Acidemia Orphanet
★☆☆☆☆
Found in Text Mining only