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	3033
Gene name	Hydroxyacyl-CoA dehydrogenase
Gene symbol	HADH
Synonyms (NCBI Gene)	HADHADH1HADHSCHCDHHHF4MSCHADSCHAD
Chromosome	4
Chromosome location	4q25
Summary	This gene is a member of the 3-hydroxyacyl-CoA dehydrogenase gene family. The encoded protein functions in the mitochondrial matrix to catalyze the oxidation of straight-chain 3-hydroxyacyl-CoAs as part of the beta-oxidation pathway. Its enzymatic activit

Show/Hide all (12)

SNP ID	Visualize variation	Clinical significance	Consequence
rs61735992	T>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs76476980	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs137853102	C>A,T	Pathogenic	Missense variant, coding sequence variant, synonymous variant, non coding transcript variant
rs137853103	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs140413151	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs146036912	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs146732064	G>C,T	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs375717077	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs745727504	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs766656997	->TTCA	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs786200932	G>A,T	Pathogenic	Intron variant
rs1398546361	G>A	Pathogenic	Splice donor variant

146

Show/Hide all (146)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004893	hsa-miR-124-3p	Microarray	15685193
MIRT004893	hsa-miR-124-3p	Microarray	15685193
MIRT004893	hsa-miR-124-3p	Microarray	18668037
MIRT023932	hsa-miR-1-3p	Proteomics	18668040
MIRT023932	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT024384	hsa-miR-215-5p	Microarray	19074876
MIRT026706	hsa-miR-192-5p	Microarray	19074876
MIRT029744	hsa-miR-26b-5p	Microarray	19088304
MIRT043605	hsa-miR-151a-3p	CLASH	23622248
MIRT037367	hsa-miR-877-5p	CLASH	23622248
MIRT1040401	hsa-miR-103a	CLIP-seq
MIRT1040402	hsa-miR-107	CLIP-seq
MIRT1040403	hsa-miR-124	CLIP-seq
MIRT1040404	hsa-miR-15a	CLIP-seq
MIRT1040405	hsa-miR-15b	CLIP-seq
MIRT1040406	hsa-miR-16	CLIP-seq
MIRT1040407	hsa-miR-195	CLIP-seq
MIRT1040408	hsa-miR-2054	CLIP-seq
MIRT1040409	hsa-miR-214	CLIP-seq
MIRT1040410	hsa-miR-3125	CLIP-seq
MIRT1040411	hsa-miR-3190	CLIP-seq
MIRT1040412	hsa-miR-320a	CLIP-seq
MIRT1040413	hsa-miR-320b	CLIP-seq
MIRT1040414	hsa-miR-320c	CLIP-seq
MIRT1040415	hsa-miR-320d	CLIP-seq
MIRT1040416	hsa-miR-34b	CLIP-seq
MIRT1040417	hsa-miR-3619-5p	CLIP-seq
MIRT1040418	hsa-miR-3916	CLIP-seq
MIRT1040419	hsa-miR-412	CLIP-seq
MIRT1040420	hsa-miR-424	CLIP-seq
MIRT1040421	hsa-miR-4257	CLIP-seq
MIRT1040422	hsa-miR-4291	CLIP-seq
MIRT1040423	hsa-miR-4330	CLIP-seq
MIRT1040424	hsa-miR-4429	CLIP-seq
MIRT1040425	hsa-miR-4434	CLIP-seq
MIRT1040426	hsa-miR-4516	CLIP-seq
MIRT1040427	hsa-miR-4531	CLIP-seq
MIRT1040428	hsa-miR-4639-3p	CLIP-seq
MIRT1040429	hsa-miR-4698	CLIP-seq
MIRT1040430	hsa-miR-4718	CLIP-seq
MIRT1040431	hsa-miR-4728-3p	CLIP-seq
MIRT1040432	hsa-miR-4729	CLIP-seq
MIRT1040433	hsa-miR-497	CLIP-seq
MIRT1040434	hsa-miR-506	CLIP-seq
MIRT1040435	hsa-miR-582-3p	CLIP-seq
MIRT1040436	hsa-miR-591	CLIP-seq
MIRT1040437	hsa-miR-628-5p	CLIP-seq
MIRT1040438	hsa-miR-660	CLIP-seq
MIRT1040439	hsa-miR-761	CLIP-seq
MIRT1040440	hsa-miR-922	CLIP-seq
MIRT1040441	hsa-miR-944	CLIP-seq
MIRT1040410	hsa-miR-3125	CLIP-seq
MIRT1040442	hsa-miR-3646	CLIP-seq
MIRT1040418	hsa-miR-3916	CLIP-seq
MIRT1040443	hsa-miR-3942-3p	CLIP-seq
MIRT1040444	hsa-miR-411	CLIP-seq
MIRT1040421	hsa-miR-4257	CLIP-seq
MIRT1040423	hsa-miR-4330	CLIP-seq
MIRT1040445	hsa-miR-4494	CLIP-seq
MIRT1040446	hsa-miR-4499	CLIP-seq
MIRT1040428	hsa-miR-4639-3p	CLIP-seq
MIRT1040447	hsa-miR-4672	CLIP-seq
MIRT1040448	hsa-miR-494	CLIP-seq
MIRT1040449	hsa-miR-499a-5p	CLIP-seq
MIRT1040408	hsa-miR-2054	CLIP-seq
MIRT1040416	hsa-miR-34b	CLIP-seq
MIRT1040429	hsa-miR-4698	CLIP-seq
MIRT1040432	hsa-miR-4729	CLIP-seq
MIRT2008427	hsa-miR-590-3p	CLIP-seq
MIRT1040403	hsa-miR-124	CLIP-seq
MIRT2240918	hsa-miR-3064-5p	CLIP-seq
MIRT2240919	hsa-miR-3652	CLIP-seq
MIRT2240920	hsa-miR-3978	CLIP-seq
MIRT2240921	hsa-miR-4269	CLIP-seq
MIRT2240922	hsa-miR-4430	CLIP-seq
MIRT2240923	hsa-miR-4505	CLIP-seq
MIRT2240924	hsa-miR-4508	CLIP-seq
MIRT1040434	hsa-miR-506	CLIP-seq
MIRT2240925	hsa-miR-518a-3p	CLIP-seq
MIRT2240926	hsa-miR-518b	CLIP-seq
MIRT2240927	hsa-miR-518c	CLIP-seq
MIRT2240928	hsa-miR-518d-3p	CLIP-seq
MIRT2240929	hsa-miR-518e	CLIP-seq
MIRT2240930	hsa-miR-518f	CLIP-seq
MIRT2240931	hsa-miR-875-3p	CLIP-seq
MIRT2240932	hsa-miR-892b	CLIP-seq
MIRT2388896	hsa-miR-4477a	CLIP-seq
MIRT1040401	hsa-miR-103a	CLIP-seq
MIRT1040402	hsa-miR-107	CLIP-seq
MIRT1040404	hsa-miR-15a	CLIP-seq
MIRT1040405	hsa-miR-15b	CLIP-seq
MIRT1040406	hsa-miR-16	CLIP-seq
MIRT1040407	hsa-miR-195	CLIP-seq
MIRT2544449	hsa-miR-1976	CLIP-seq
MIRT1040409	hsa-miR-214	CLIP-seq
MIRT2544450	hsa-miR-3160-3p	CLIP-seq
MIRT1040417	hsa-miR-3619-5p	CLIP-seq
MIRT1040419	hsa-miR-412	CLIP-seq
MIRT1040420	hsa-miR-424	CLIP-seq
MIRT1040422	hsa-miR-4291	CLIP-seq
MIRT2544451	hsa-miR-4427	CLIP-seq
MIRT1040431	hsa-miR-4728-3p	CLIP-seq
MIRT2544452	hsa-miR-4756-3p	CLIP-seq
MIRT1040433	hsa-miR-497	CLIP-seq
MIRT2544453	hsa-miR-548u	CLIP-seq
MIRT2544454	hsa-miR-570	CLIP-seq
MIRT1040436	hsa-miR-591	CLIP-seq
MIRT1040437	hsa-miR-628-5p	CLIP-seq
MIRT2544455	hsa-miR-642b	CLIP-seq
MIRT1040438	hsa-miR-660	CLIP-seq
MIRT1040439	hsa-miR-761	CLIP-seq
MIRT1040440	hsa-miR-922	CLIP-seq
MIRT1040401	hsa-miR-103a	CLIP-seq
MIRT1040402	hsa-miR-107	CLIP-seq
MIRT1040403	hsa-miR-124	CLIP-seq
MIRT1040404	hsa-miR-15a	CLIP-seq
MIRT1040405	hsa-miR-15b	CLIP-seq
MIRT1040406	hsa-miR-16	CLIP-seq
MIRT1040407	hsa-miR-195	CLIP-seq
MIRT2544449	hsa-miR-1976	CLIP-seq
MIRT1040409	hsa-miR-214	CLIP-seq
MIRT2544450	hsa-miR-3160-3p	CLIP-seq
MIRT1040412	hsa-miR-320a	CLIP-seq
MIRT1040413	hsa-miR-320b	CLIP-seq
MIRT1040414	hsa-miR-320c	CLIP-seq
MIRT1040415	hsa-miR-320d	CLIP-seq
MIRT2682217	hsa-miR-3613-3p	CLIP-seq
MIRT1040417	hsa-miR-3619-5p	CLIP-seq
MIRT1040419	hsa-miR-412	CLIP-seq
MIRT1040420	hsa-miR-424	CLIP-seq
MIRT1040422	hsa-miR-4291	CLIP-seq
MIRT2544451	hsa-miR-4427	CLIP-seq
MIRT1040424	hsa-miR-4429	CLIP-seq
MIRT1040431	hsa-miR-4728-3p	CLIP-seq
MIRT2544452	hsa-miR-4756-3p	CLIP-seq
MIRT1040433	hsa-miR-497	CLIP-seq
MIRT1040434	hsa-miR-506	CLIP-seq
MIRT2544453	hsa-miR-548u	CLIP-seq
MIRT2544454	hsa-miR-570	CLIP-seq
MIRT1040436	hsa-miR-591	CLIP-seq
MIRT2682218	hsa-miR-624	CLIP-seq
MIRT1040437	hsa-miR-628-5p	CLIP-seq
MIRT2544455	hsa-miR-642b	CLIP-seq
MIRT1040438	hsa-miR-660	CLIP-seq
MIRT1040439	hsa-miR-761	CLIP-seq
MIRT1040440	hsa-miR-922	CLIP-seq

Show/Hide all (35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003857	Function	(3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	IBA
GO:0003857	Function	(3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	IDA	11489939
GO:0003857	Function	(3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	IEA
GO:0003857	Function	(3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	TAS	8687463
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	8687463
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006635	Process	Fatty acid beta-oxidation	IBA
GO:0006635	Process	Fatty acid beta-oxidation	IDA	11489939
GO:0006635	Process	Fatty acid beta-oxidation	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009725	Process	Response to hormone	IEA
GO:0014823	Process	Response to activity	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016616	Function	Oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0032868	Process	Response to insulin	IEA
GO:0042802	Function	Identical protein binding	IDA	10231530
GO:0046676	Process	Negative regulation of insulin secretion	IEA
GO:0050796	Process	Regulation of insulin secretion	IEA
GO:0050796	Process	Regulation of insulin secretion	ISS
GO:0070403	Function	NAD+ binding	IDA	10840044
GO:0070403	Function	NAD+ binding	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	21990309

MIM	HGNC	e!Ensembl
601609	4799	ENSG00000138796

Q16836

Protein name

Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial (HCDH) (EC 1.1.1.35) (Medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase) (Short-chain 3-hydroxyacyl-CoA dehydrogenase)

Protein function

Mitochondrial fatty acid beta-oxidation enzyme that catalyzes the third step of the beta-oxidation cycle for medium and short-chain 3-hydroxy fatty acyl-CoAs (C4 to C10) (PubMed:10231530, PubMed:11489939, PubMed:16725361). Plays a role in the co

PDB

1F0Y , 1F12 , 1F14 , 1F17 , 1IL0 , 1LSJ , 1LSO , 1M75 , 1M76 , 2HDH , 3HAD , 3RQS

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02737	3HCDH_N	29 → 214	3-hydroxyacyl-CoA dehydrogenase, NAD binding domain	Domain
PF00725	3HCDH	216 → 313	3-hydroxyacyl-CoA dehydrogenase, C-terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in liver, kidney, pancreas, heart and skeletal muscle. {ECO:0000269|PubMed:8687463}.

Sequence

MAFVTRQFMRSVSSSSTASASAKKIIVKHVTVIGGGLMGAGIAQVAAATGHTVVLVDQTE
DILAKSKKGIEESLRKVAKKKFAENLKAGDEFVEKTLSTIATSTDAASVVHSTDLVVEAI
VENLKVKNELFKRLDKFAAEHTIFASNTSSLQITSIANATTRQDRFAGLHFFNPVPVMKL
VEVIKTPMTSQKTFESLVDFSKALGKHPVSCKDTPGFIVNRLLVPYLMEAIRLYERGDAS
KEDIDTAMKLGAGYPMGPFELLDYVGLDTTKFIVDGWHEMDAENPLHQPSPSLNKLVAEN
KFGKKTGEGFYKYK

Sequence length

314

Interactions

View interactions

	KEGG		Reactome
	Fatty acid elongation Fatty acid degradation Valine, leucine and isoleucine degradation Lysine degradation Tryptophan metabolism Butanoate metabolism Metabolic pathways Fatty acid metabolism		Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA Beta oxidation of octanoyl-CoA to hexanoyl-CoA Beta oxidation of hexanoyl-CoA to butanoyl-CoA Beta oxidation of butanoyl-CoA to acetyl-CoA

515

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Deficiency of 3-hydroxyacyl-CoA dehydrogenase	Likely pathogenic; Pathogenic	rs2126234552, rs1402140155, rs2477199629, rs138521550, rs2477237481, rs2477138010, rs111951959, rs1736114396, rs1735964758, rs2477238123, rs2477217032, rs1239277010, rs2477270617, rs2477217602, rs2477137510 View all (7 more)	RCV002249070 RCV003619821 RCV003159274 RCV003468307 RCV003468308 RCV003461715 RCV003461716 RCV003476416 RCV003468309 RCV003510680 RCV003511223 RCV003510094 RCV003620513 RCV003620687 RCV003620919 RCV003621081 RCV003619324 RCV004576704 RCV004576705 RCV003460539 RCV000816566 RCV000987461 RCV000987462
Familial hyperinsulinism	Likely pathogenic	rs779135938	RCV006262349
Hyperinsulinemic hypoglycemia	Likely pathogenic; Pathogenic	rs779135938, rs1398546361	RCV003221358 RCV003221307
Hyperinsulinemic hypoglycemia, familial, 4	Likely pathogenic; Pathogenic	rs2477237537, rs137853103, rs2126234459, rs138521550, rs375717077, rs786200932, rs779135938, rs1398546361, rs745727504	RCV002471463 RCV000008484 RCV000008485 RCV005036809 RCV000032678 RCV000032680 RCV002470991 RCV001766803 RCV001766804

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Abnormal brain morphology	Conflicting classifications of pathogenicity	rs146732064	RCV000454321
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign; Likely benign	rs61735992	RCV005892305
Clear cell carcinoma of kidney	Benign; Likely benign	rs61735992	RCV005892301
Gastric cancer	Benign; Likely benign	rs61735992	RCV005892302
HADH-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign	rs79881095, rs150930917, rs754693316, rs763621744, rs534966818, rs1051519, rs748623569, rs1734719512, rs371652531, rs1434742133, rs764217686, rs2126237060, rs2477271080, rs749063053, rs781103715 View all (6 more)	RCV003953729 RCV003920984 RCV003973666 RCV003906548 RCV004757159 RCV003907686 RCV003897785 RCV003896597 RCV003919613 RCV003894363 RCV003904156 RCV003904223 RCV003904299 RCV003904632 RCV003903921 RCV003899071 RCV003953224 RCV003967916 RCV003920448 RCV003895631 RCV003960396
Hyperinsulinemic hypoglycemia, familial, 1	Benign; Likely benign	rs17511214	RCV002463669
Hyperinsulinism, Dominant/Recessive	Uncertain risk allele; Uncertain significance; Conflicting classifications of pathogenicity	rs574132278, rs886058981, rs552317372, rs537335460	RCV000277767 RCV000284469 RCV000310617 RCV000305842
Lung cancer	Benign; Likely benign	rs61735992	RCV005892304
Melanoma	Benign; Likely benign	rs61735992	RCV005892303
Monogenic diabetes	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain risk allele; Uncertain significance	rs61735992, rs1051519, rs76476980, rs36030668, rs140413151, rs144699575, rs374248298, rs377615662, rs201019894	RCV000664099 RCV000664100 RCV000445511 RCV000445389 RCV000664101 RCV001174482 RCV001174480 RCV001174481 RCV001174483

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
3 Hydroxyacyl CoA Dehydrogenase Deficiency	Associate	19417036
Carcinoma Renal Cell	Associate	30793530, 37460577
Carcinoma Renal Cell	Inhibit	34391866
Colorectal Neoplasms	Associate	29453334
Congenital Hyperinsulinism	Associate	19417036, 21252247, 23275527, 26316438, 26758964, 27771675, 34927408
Hyperinsulinism	Associate	20923481, 23273570, 29493090
Hypoglycemia	Associate	20923481
Hypoglycemia leucine induced	Associate	22583614
Inflammation	Associate	34391866
Laryngeal Neoplasms	Associate	28582492
Liver Neoplasms	Associate	30176945
Mitochondrial Diseases	Associate	37410216
Neoplasms	Associate	28582492
Squamous Cell Carcinoma of Head and Neck	Associate	28582492
Stomach Neoplasms	Associate	33881965

HADH (hydroxyacyl-CoA dehydrogenase)