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	3028
Gene name	Hydroxysteroid 17-beta dehydrogenase 10
Gene symbol	HSD17B10
Synonyms (NCBI Gene)	17b-HSD10ABADCAMRDUPXp11.22ERABHADH2HCD2HSD10MDMHBDMRPP2MRX17MRX31MRXS10SCHADSDR5C1
Chromosome	X
Chromosome location	Xp11.22
Summary	This gene encodes 3-hydroxyacyl-CoA dehydrogenase type II, a member of the short-chain dehydrogenase/reductase superfamily. The gene product is a mitochondrial protein that catalyzes the oxidation of a wide variety of fatty acids and steroids, and is a su

Show/Hide all (8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28935475	G>A	Pathogenic	Coding sequence variant, missense variant
rs28935476	G>C	Pathogenic	Coding sequence variant, missense variant
rs104886492	A>G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs122462164	G>T	Pathogenic	Coding sequence variant, synonymous variant, intron variant
rs587777651	T>C	Pathogenic	Missense variant, coding sequence variant
rs886037927	G>T	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs1064794694	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1602426573	C>G	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all (55)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022995	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT025528	hsa-miR-34a-5p	Sequencing	20371350
MIRT048950	hsa-miR-92a-3p	CLASH	23622248
MIRT044743	hsa-miR-320a	CLASH	23622248
MIRT042654	hsa-miR-196b-5p	CLASH	23622248
MIRT036869	hsa-miR-877-3p	CLASH	23622248
MIRT1055306	hsa-miR-150	CLIP-seq
MIRT1055307	hsa-miR-185	CLIP-seq
MIRT1055308	hsa-miR-1915	CLIP-seq
MIRT1055309	hsa-miR-2467-3p	CLIP-seq
MIRT1055310	hsa-miR-3135b	CLIP-seq
MIRT1055311	hsa-miR-3153	CLIP-seq
MIRT1055312	hsa-miR-3202	CLIP-seq
MIRT1055313	hsa-miR-320e	CLIP-seq
MIRT1055314	hsa-miR-378g	CLIP-seq
MIRT1055315	hsa-miR-4306	CLIP-seq
MIRT1055316	hsa-miR-4436b-3p	CLIP-seq
MIRT1055317	hsa-miR-4476	CLIP-seq
MIRT1055318	hsa-miR-4644	CLIP-seq
MIRT1055319	hsa-miR-4691-5p	CLIP-seq
MIRT1055320	hsa-miR-516a-3p	CLIP-seq
MIRT1055306	hsa-miR-150	CLIP-seq
MIRT1055307	hsa-miR-185	CLIP-seq
MIRT2012664	hsa-miR-2682	CLIP-seq
MIRT1055310	hsa-miR-3135b	CLIP-seq
MIRT1055313	hsa-miR-320e	CLIP-seq
MIRT2012665	hsa-miR-3622a-5p	CLIP-seq
MIRT1055314	hsa-miR-378g	CLIP-seq
MIRT1055315	hsa-miR-4306	CLIP-seq
MIRT2012666	hsa-miR-4423-3p	CLIP-seq
MIRT2012667	hsa-miR-449c	CLIP-seq
MIRT1055318	hsa-miR-4644	CLIP-seq
MIRT1055319	hsa-miR-4691-5p	CLIP-seq
MIRT2012668	hsa-miR-4698	CLIP-seq
MIRT1055320	hsa-miR-516a-3p	CLIP-seq
MIRT2012669	hsa-miR-520d-5p	CLIP-seq
MIRT2012670	hsa-miR-524-5p	CLIP-seq
MIRT2012671	hsa-miR-935	CLIP-seq
MIRT2012672	hsa-miR-940	CLIP-seq
MIRT1055306	hsa-miR-150	CLIP-seq
MIRT1055307	hsa-miR-185	CLIP-seq
MIRT2012664	hsa-miR-2682	CLIP-seq
MIRT1055310	hsa-miR-3135b	CLIP-seq
MIRT1055313	hsa-miR-320e	CLIP-seq
MIRT1055314	hsa-miR-378g	CLIP-seq
MIRT1055315	hsa-miR-4306	CLIP-seq
MIRT2012667	hsa-miR-449c	CLIP-seq
MIRT1055318	hsa-miR-4644	CLIP-seq
MIRT1055319	hsa-miR-4691-5p	CLIP-seq
MIRT2012668	hsa-miR-4698	CLIP-seq
MIRT1055320	hsa-miR-516a-3p	CLIP-seq
MIRT2012669	hsa-miR-520d-5p	CLIP-seq
MIRT2012670	hsa-miR-524-5p	CLIP-seq
MIRT2012671	hsa-miR-935	CLIP-seq
MIRT2012672	hsa-miR-940	CLIP-seq

Show/Hide all (60)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000049	Function	TRNA binding	IDA	29040705
GO:0003723	Function	RNA binding	HDA	22681889
GO:0003857	Function	(3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	IDA	12917011, 23042678, 25925575, 28888424
GO:0003857	Function	(3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	IEA
GO:0004303	Function	Estradiol 17-beta-dehydrogenase [NAD(P)+] activity	IBA
GO:0004303	Function	Estradiol 17-beta-dehydrogenase [NAD(P)+] activity	IEA
GO:0005515	Function	Protein binding	IPI	9338779, 18984158, 23042678, 28514442, 29040705, 29128334, 29880640, 32814053, 32825572, 33961781
GO:0005737	Component	Cytoplasm	TAS	9338779
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	23042678, 29880640
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005886	Component	Plasma membrane	TAS	9338779
GO:0006550	Process	L-isoleucine catabolic process	IDA	18996107, 19706438
GO:0006550	Process	L-isoleucine catabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	TAS	9338779
GO:0006631	Process	Fatty acid metabolic process	IBA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006635	Process	Fatty acid beta-oxidation	IDA	12917011
GO:0006635	Process	Fatty acid beta-oxidation	IEA
GO:0006699	Process	Bile acid biosynthetic process	IDA	12917011
GO:0006699	Process	Bile acid biosynthetic process	IEA
GO:0007005	Process	Mitochondrion organization	IMP	20077426
GO:0008033	Process	TRNA processing	IEA
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008207	Process	C21-steroid hormone metabolic process	IDA	12917011
GO:0008209	Process	Androgen metabolic process	IBA
GO:0008209	Process	Androgen metabolic process	IDA	12917011
GO:0008210	Process	Estrogen metabolic process	IBA
GO:0008210	Process	Estrogen metabolic process	IDA	12917011
GO:0008709	Function	Cholate 7-alpha-dehydrogenase (NAD+) activity	IDA	12917011
GO:0008709	Function	Cholate 7-alpha-dehydrogenase (NAD+) activity	IEA
GO:0008709	Function	Cholate 7-alpha-dehydrogenase (NAD+) activity	TAS	9338779
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0030678	Component	Mitochondrial ribonuclease P complex	IDA	25925575, 28888424
GO:0030678	Component	Mitochondrial ribonuclease P complex	IPI	29880640
GO:0030678	Component	Mitochondrial ribonuclease P complex	TAS	23042678
GO:0042645	Component	Mitochondrial nucleoid	IDA	24703694
GO:0042645	Component	Mitochondrial nucleoid	IEA
GO:0043527	Component	TRNA methyltransferase complex	IPI	23042678
GO:0044594	Function	17-beta-hydroxysteroid dehydrogenase (NAD+) activity	IDA	12917011
GO:0047015	Function	3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity	IDA	18996107, 19706438
GO:0047015	Function	3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity	IEA
GO:0047035	Function	Testosterone dehydrogenase (NAD+) activity	IDA	12917011
GO:0047035	Function	Testosterone dehydrogenase (NAD+) activity	IEA
GO:0047044	Function	Androstan-3-alpha,17-beta-diol dehydrogenase (NAD+) activity	IEA
GO:0051289	Process	Protein homotetramerization	IDA	25925575
GO:0062173	Process	Brexanolone metabolic process	IDA	19706438
GO:0070901	Process	Mitochondrial tRNA methylation	IDA	23042678, 25925575, 28888424
GO:0097745	Process	Mitochondrial tRNA 5'-end processing	IDA	24549042, 25925575, 28888424, 29040705, 29880640
GO:0106281	Function	Chenodeoxycholate 7-alpha-dehydrogenase (NAD+) activity	IDA	12917011
GO:0106281	Function	Chenodeoxycholate 7-alpha-dehydrogenase (NAD+) activity	IEA
GO:0106282	Function	Isoursodeoxycholate 7-beta-dehydrogenase (NAD+) activity	IDA	12917011
GO:0106282	Function	Isoursodeoxycholate 7-beta-dehydrogenase (NAD+) activity	IEA
GO:0106283	Function	Ursodeoxycholate 7-beta-dehydrogenase (NAD+) activity	IDA	12917011
GO:0106283	Function	Ursodeoxycholate 7-beta-dehydrogenase (NAD+) activity	IEA
GO:1990180	Process	Mitochondrial tRNA 3'-end processing	IDA	29040705

MIM	HGNC	e!Ensembl
300256	4800	ENSG00000072506

Q99714

Protein name

3-hydroxyacyl-CoA dehydrogenase type-2 (EC 1.1.1.35) (17-beta-estradiol 17-dehydrogenase) (EC 1.1.1.62) (2-methyl-3-hydroxybutyryl-CoA dehydrogenase) (MHBD) (3-alpha-(17-beta)-hydroxysteroid dehydrogenase (NAD(+))) (EC 1.1.1.239) (3-hydroxy-2-methylbutyry

Protein function

Mitochondrial dehydrogenase involved in pathways of fatty acid, branched-chain amino acid and steroid metabolism (PubMed:10600649, PubMed:12917011, PubMed:18996107, PubMed:19706438, PubMed:20077426, PubMed:25925575, PubMed:26950678, PubMed:28888

PDB

1SO8 , 1U7T , 2O23 , 7ONU , 8CBK , 8CBL , 8CBM , 8CBO , 8RR1 , 8RR3 , 8RR4 , 9EY0 , 9EY1 , 9EY2 , 9GCH

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00106	adh_short	11 → 213	short chain dehydrogenase	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed in normal tissues but is overexpressed in neurons affected in AD. {ECO:0000269|PubMed:9338779}.

Sequence

MAAACRSVKGLVAVITGGASGLGLATAERLVGQGASAVLLDLPNSGGEAQAKKLGNNCVF
APADVTSEKDVQTALALAKGKFGRVDVAVNCAGIAVASKTYNLKKGQTHTLEDFQRVLDV
NLMGTFNVIRLVAGEMGQNEPDQGGQRGVIINTASVAAFEGQVGQAAYSASKGGIVGMTL
PIARDLAPIGIRVMTIAPGLFGTPLLTSLPEKVCNFLASQVPFPSRLGDPAEYAHLVQAI
IENPFLNGEVIRLDGAIRMQP

Sequence length

261

Interactions

View interactions

	KEGG		Reactome
	Valine, leucine and isoleucine degradation Metabolic pathways Alzheimer disease Pathways of neurodegeneration - multiple diseases		tRNA processing in the mitochondrion tRNA modification in the mitochondrion Branched-chain amino acid catabolism rRNA processing in the mitochondrion

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)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
HSD10 mitochondrial disease	Likely pathogenic; Pathogenic	rs1348504554, rs587777651, rs886037927, rs2521092158, rs28935475, rs122461163, rs122462164, rs886041974, rs1556894502, rs1602426573, rs2075824424, rs2075834227	RCV001329906 RCV000133540 RCV000240845 RCV003228712 RCV000012195 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HSD17B10-related disorder	Likely pathogenic	rs2521096456	RCV004534384	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
CHOREA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED, SYNDROMIC 10	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental delay	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (50)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CTD_human_DG	19381893		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	10329704, 32703935, 9553139	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	32703935	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	28888424	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Choreoathetosis Hypothyroidism And Neonatal Respiratory Distress	Choreoathetosis	Pubtator	17236142, 22132097	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Hyperinsulinemic hypoglycemia	BEFREE	15868462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Contact Dermatitis	Dermatitis	BEFREE	8757303		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	26950678	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	17065362		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	LHGDN	15804423		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2	Kyphoscoliotic Ehlers-Danlos Syndrome	BEFREE	25111118		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
HSD10 disease, atypical type	HSD10 Disease	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
HSD10 disease, infantile type	HSD10 Disease	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
HSD10 disease, neonatal type	HSD10 Disease	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	15868462, 15870679		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	25231369		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	18252223, 22840365		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	18252223, 22132097	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kohlschutter Tonz syndrome	Kohlschutter syndrome	BEFREE	25111118		★★★★★ ★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	22132097	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	18252223		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	17236142, 17618155		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	LHGDN	18252223		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED 31	Mental Retardation, X-Linked	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	15868462, 26950678		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	22132097, 26950678	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	16148061		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	22174920, 26950678, 32703935	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	18252223		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	17236142, 28888424	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	LHGDN	17236142		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	29536773		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	19449377		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	15236401		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	18765932		★★★★★ ★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	12393239, 21382475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	37907864	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

HSD17B10 (hydroxysteroid 17-beta dehydrogenase 10)