Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	27034
Gene name Gene Name - the full gene name approved by the HGNC.	Acyl-CoA dehydrogenase family member 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ACAD8
Synonyms (NCBI Gene) Gene synonyms aliases	ACAD-8, ARC42, IBDH
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11q25
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. The encoded protein is a mitochondrial enzyme that functio

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SNP ID	Visualize variation	Clinical significance	Consequence
rs113488591	C>G	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs121908418	T>C	Pathogenic	Coding sequence variant, missense variant
rs121908419	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, 3 prime UTR variant
rs121908420	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, 3 prime UTR variant
rs121908421	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, missense variant, 3 prime UTR variant
rs121908422	G>A,C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, 3 prime UTR variant
rs200620279	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, 3 prime UTR variant
rs367857040	G>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs374317179	G>A	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant, initiator codon variant
rs398124269	->CT	Pathogenic	Coding sequence variant, frameshift variant
rs751633406	G>A	Uncertain-significance, likely-pathogenic	Intron variant, 5 prime UTR variant, coding sequence variant, missense variant
rs767613745	T>C	Likely-pathogenic	Intron variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs777756488	G>A	Pathogenic	Splice donor variant
rs778203609	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs779385985	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555067461	G>C	Likely-pathogenic	Splice donor variant, 3 prime UTR variant
rs1591505809	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained, upstream transcript variant, synonymous variant

Show/Hide all(133)

miRTarBase ID	miRNA	Experiments	Reference
MIRT052639	hsa-let-7a-5p	CLASH	23622248
MIRT685425	hsa-miR-548c-3p	HITS-CLIP	23313552
MIRT685424	hsa-miR-548n	HITS-CLIP	23313552
MIRT685423	hsa-miR-6732-3p	HITS-CLIP	23313552
MIRT685422	hsa-miR-562	HITS-CLIP	23313552
MIRT685421	hsa-miR-10a-5p	HITS-CLIP	23313552
MIRT685420	hsa-miR-10b-5p	HITS-CLIP	23313552
MIRT685419	hsa-miR-339-5p	HITS-CLIP	23313552
MIRT685418	hsa-miR-4421	HITS-CLIP	23313552
MIRT685417	hsa-miR-5699-3p	HITS-CLIP	23313552
MIRT685416	hsa-miR-6895-3p	HITS-CLIP	23313552
MIRT685415	hsa-miR-593-3p	HITS-CLIP	23313552
MIRT685414	hsa-miR-4684-5p	HITS-CLIP	23313552
MIRT685413	hsa-miR-6818-3p	HITS-CLIP	23313552
MIRT648984	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT648983	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT648982	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT648981	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT648979	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT648980	hsa-miR-1976	HITS-CLIP	23824327
MIRT648978	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT648977	hsa-miR-4486	HITS-CLIP	23824327
MIRT648976	hsa-miR-4252	HITS-CLIP	23824327
MIRT648975	hsa-miR-1254	HITS-CLIP	23824327
MIRT648974	hsa-miR-3116	HITS-CLIP	23824327
MIRT648973	hsa-miR-661	HITS-CLIP	23824327
MIRT648972	hsa-miR-1227-3p	HITS-CLIP	23824327
MIRT648971	hsa-miR-7703	HITS-CLIP	23824327
MIRT648970	hsa-miR-550b-2-5p	HITS-CLIP	23824327
MIRT685425	hsa-miR-548c-3p	HITS-CLIP	23313552
MIRT685424	hsa-miR-548n	HITS-CLIP	23313552
MIRT685423	hsa-miR-6732-3p	HITS-CLIP	23313552
MIRT685422	hsa-miR-562	HITS-CLIP	23313552
MIRT685421	hsa-miR-10a-5p	HITS-CLIP	23313552
MIRT685420	hsa-miR-10b-5p	HITS-CLIP	23313552
MIRT685419	hsa-miR-339-5p	HITS-CLIP	23313552
MIRT685418	hsa-miR-4421	HITS-CLIP	23313552
MIRT685417	hsa-miR-5699-3p	HITS-CLIP	23313552
MIRT685416	hsa-miR-6895-3p	HITS-CLIP	23313552
MIRT685415	hsa-miR-593-3p	HITS-CLIP	23313552
MIRT685414	hsa-miR-4684-5p	HITS-CLIP	23313552
MIRT685413	hsa-miR-6818-3p	HITS-CLIP	23313552
MIRT648984	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT648983	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT648982	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT648981	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT648979	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT648980	hsa-miR-1976	HITS-CLIP	23824327
MIRT648978	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT648977	hsa-miR-4486	HITS-CLIP	23824327
MIRT648976	hsa-miR-4252	HITS-CLIP	23824327
MIRT648975	hsa-miR-1254	HITS-CLIP	23824327
MIRT648974	hsa-miR-3116	HITS-CLIP	23824327
MIRT648973	hsa-miR-661	HITS-CLIP	23824327
MIRT648972	hsa-miR-1227-3p	HITS-CLIP	23824327
MIRT648971	hsa-miR-7703	HITS-CLIP	23824327
MIRT648970	hsa-miR-550b-2-5p	HITS-CLIP	23824327
MIRT761430	hsa-miR-129-3p	CLIP-seq
MIRT761431	hsa-miR-3613-3p	CLIP-seq
MIRT761432	hsa-miR-3973	CLIP-seq
MIRT761433	hsa-miR-4272	CLIP-seq
MIRT761434	hsa-miR-4690-3p	CLIP-seq
MIRT761435	hsa-miR-4780	CLIP-seq
MIRT761436	hsa-miR-4795-3p	CLIP-seq
MIRT761437	hsa-miR-4804-5p	CLIP-seq
MIRT761438	hsa-miR-520g	CLIP-seq
MIRT761439	hsa-miR-520h	CLIP-seq
MIRT1924514	hsa-miR-181a	CLIP-seq
MIRT1924515	hsa-miR-181b	CLIP-seq
MIRT1924516	hsa-miR-181c	CLIP-seq
MIRT1924517	hsa-miR-181d	CLIP-seq
MIRT1924518	hsa-miR-4257	CLIP-seq
MIRT1924519	hsa-miR-4262	CLIP-seq
MIRT2165750	hsa-miR-3665	CLIP-seq
MIRT2165751	hsa-miR-4266	CLIP-seq
MIRT2165752	hsa-miR-657	CLIP-seq
MIRT2468332	hsa-miR-1228	CLIP-seq
MIRT2468333	hsa-miR-1260	CLIP-seq
MIRT2468334	hsa-miR-1260b	CLIP-seq
MIRT2468335	hsa-miR-1324	CLIP-seq
MIRT2468336	hsa-miR-136	CLIP-seq
MIRT2468337	hsa-miR-1825	CLIP-seq
MIRT2468338	hsa-miR-188-3p	CLIP-seq
MIRT2468339	hsa-miR-199a-5p	CLIP-seq
MIRT2468340	hsa-miR-199b-5p	CLIP-seq
MIRT2468341	hsa-miR-2355-5p	CLIP-seq
MIRT2468342	hsa-miR-3121-5p	CLIP-seq
MIRT2468343	hsa-miR-3125	CLIP-seq
MIRT2468344	hsa-miR-3127-3p	CLIP-seq
MIRT2468345	hsa-miR-3156-3p	CLIP-seq
MIRT2468346	hsa-miR-3616-3p	CLIP-seq
MIRT2468347	hsa-miR-3679-3p	CLIP-seq
MIRT2468348	hsa-miR-3916	CLIP-seq
MIRT2468349	hsa-miR-3923	CLIP-seq
MIRT2468350	hsa-miR-4276	CLIP-seq
MIRT2468351	hsa-miR-4459	CLIP-seq
MIRT2468352	hsa-miR-4691-5p	CLIP-seq
MIRT2468353	hsa-miR-4711-5p	CLIP-seq
MIRT2468354	hsa-miR-4713-3p	CLIP-seq
MIRT2468355	hsa-miR-4761-3p	CLIP-seq
MIRT2468356	hsa-miR-4779	CLIP-seq
MIRT2468357	hsa-miR-628-3p	CLIP-seq
MIRT2468358	hsa-miR-873	CLIP-seq
MIRT2468359	hsa-miR-877	CLIP-seq
MIRT2468332	hsa-miR-1228	CLIP-seq
MIRT2468333	hsa-miR-1260	CLIP-seq
MIRT2468334	hsa-miR-1260b	CLIP-seq
MIRT2468335	hsa-miR-1324	CLIP-seq
MIRT2468336	hsa-miR-136	CLIP-seq
MIRT2468337	hsa-miR-1825	CLIP-seq
MIRT2468338	hsa-miR-188-3p	CLIP-seq
MIRT2468339	hsa-miR-199a-5p	CLIP-seq
MIRT2468340	hsa-miR-199b-5p	CLIP-seq
MIRT2468341	hsa-miR-2355-5p	CLIP-seq
MIRT2468342	hsa-miR-3121-5p	CLIP-seq
MIRT2468343	hsa-miR-3125	CLIP-seq
MIRT2468344	hsa-miR-3127-3p	CLIP-seq
MIRT2468345	hsa-miR-3156-3p	CLIP-seq
MIRT2468346	hsa-miR-3616-3p	CLIP-seq
MIRT2674209	hsa-miR-3662	CLIP-seq
MIRT2468347	hsa-miR-3679-3p	CLIP-seq
MIRT2468348	hsa-miR-3916	CLIP-seq
MIRT2468349	hsa-miR-3923	CLIP-seq
MIRT2468350	hsa-miR-4276	CLIP-seq
MIRT2468351	hsa-miR-4459	CLIP-seq
MIRT2468352	hsa-miR-4691-5p	CLIP-seq
MIRT2468353	hsa-miR-4711-5p	CLIP-seq
MIRT2468354	hsa-miR-4713-3p	CLIP-seq
MIRT2468355	hsa-miR-4761-3p	CLIP-seq
MIRT2468356	hsa-miR-4779	CLIP-seq
MIRT2468357	hsa-miR-628-3p	CLIP-seq
MIRT2468358	hsa-miR-873	CLIP-seq
MIRT2468359	hsa-miR-877	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0003853	Function	Short-chain 2-methyl fatty acyl-CoA dehydrogenase activity	IEA
GO:0003995	Function	Acyl-CoA dehydrogenase activity	IEA
GO:0003995	Function	Acyl-CoA dehydrogenase activity	TAS	10524212
GO:0005515	Function	Protein binding	IPI	33961781
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006574	Process	L-valine catabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	TAS	10524212
GO:0009083	Process	Branched-chain amino acid catabolic process	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016627	Function	Oxidoreductase activity, acting on the CH-CH group of donors	IEA
GO:0050660	Function	Flavin adenine dinucleotide binding	IEA

MIM	HGNC	e!Ensembl
604773	87	ENSG00000151498

Protein

UniProt ID

Q9UKU7

Protein name

Isobutyryl-CoA dehydrogenase, mitochondrial (IBDH) (EC 1.3.8.5) (Activator-recruited cofactor 42 kDa component) (ARC42) (Acyl-CoA dehydrogenase family member 8) (ACAD-8)

Protein function

Isobutyryl-CoA dehydrogenase which catalyzes the conversion of 2-methylpropanoyl-CoA to (2E)-2-methylpropenoyl-CoA in the valine catabolic pathway (PubMed:11013134, PubMed:12359132, PubMed:16857760). To a lesser extent, also able to catalyze the

PDB

1RX0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02771	Acyl-CoA_dh_N	42 → 153	Acyl-CoA dehydrogenase, N-terminal domain	Domain
PF02770	Acyl-CoA_dh_M	157 → 251	Acyl-CoA dehydrogenase, middle domain	Domain
PF00441	Acyl-CoA_dh_1	263 → 413	Acyl-CoA dehydrogenase, C-terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Detected at comparable levels in heart, lung, brain, skeletal muscle, pancreas and placenta. Weakly expressed in liver and kidney. {ECO:0000269|PubMed:10524212}.

Sequence

MLWSGCRRFGARLGCLPGGLRVLVQTGHRSLTSCIDPSMGLNEEQKEFQKVAFDFAAREM
APNMAEWDQKELFPVDVMRKAAQLGFGGVYIQTDVGGSGLSRLDTSVIFEALATGCTSTT
AYISIHNMCAWMIDSFGNEEQRHKFCPPLCTMEKFASYCLTEPGSGSDAASLLTSAKKQG
DHYILNGSKAFISGAGESDIYVVMCRTGGPGPKGISCIVVEKGTPGLSFGKKEKKVGWNS
QPTRAVIFEDCAVPVANRIGSEGQGFLIAVRGLNGGRINIASCSLGAAHASVILTRDHLN
VRKQFGEPLASNQYLQFTLADMATRLVAARLMVRNAAVALQEERKDAVALCSMAKLFATD
ECFAICNQALQMHGGYGYLKDYAVQQYVRDSRVHQILEGSNEVMRILISRSLLQE

Sequence length

415

Interactions

View interactions

	KEGG		Reactome
	Valine, leucine and isoleucine degradation Metabolic pathways		Branched-chain amino acid catabolism

ACAD8 (acyl-CoA dehydrogenase family member 8)