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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	27034
Gene name	Acyl-CoA dehydrogenase family member 8
Gene symbol	ACAD8
Synonyms (NCBI Gene)	ACAD-8ARC42IBDH
Chromosome	11
Chromosome location	11q25
Summary	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

Show/Hide all (17)

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

133

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

Show/Hide all (14)

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

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

234

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ACAD8-related disorder	Pathogenic; Likely pathogenic	rs572619478, rs934865815	RCV004749810 RCV003399635
Deficiency of isobutyryl-CoA dehydrogenase	Likely pathogenic; Pathogenic	rs374317179, rs572619478, rs773472208, rs770663870, rs1207482914, rs121908419, rs121908421, rs751940610, rs369445365, rs1339547372, rs759600553, rs757899755, rs779385985, rs763520594, rs537831211 View all (6 more)	RCV001040333 RCV001381283 RCV002037738 RCV002000040 RCV002040147 RCV002714958 RCV000005687 RCV000005689 RCV002904366 RCV002976019 RCV003141430 RCV003506078 RCV003614609 RCV003815860 RCV003856998 RCV003983780 RCV000686692 RCV000778902 RCV000799581 RCV000815639 RCV001052041 RCV001208668

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs201188279	RCV005892949
Cervical cancer	Benign; Likely benign	rs148089913	RCV005896842
Familial cancer of breast	Uncertain significance; Benign; Likely benign	rs774591276, rs201188279, rs148089913	RCV005924019 RCV005892948 RCV005896841
Gastric cancer	Benign; Likely benign	rs201188279, rs148089913	RCV005892950 RCV005896843
Hepatocellular carcinoma	Likely benign	rs148005336	RCV005911268
Lung cancer	Benign; Likely benign	rs201188279	RCV005892952
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs201188279	RCV005892951
Thyroid cancer, nonmedullary, 1	Uncertain significance; Conflicting classifications of pathogenicity	rs773403936, rs374985215	RCV005923949 RCV005921287
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs201188279, rs148089913	RCV005892953 RCV005896844

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	39735553
Alzheimer Disease	Associate	17387528
Irritable Bowel Syndrome	Associate	30614852
Isobutyryl CoA dehydrogenase deficiency	Associate	33432785

ACAD8 (acyl-CoA dehydrogenase family member 8)