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

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
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 RCV000012197 RCV000012198 RCV000488602 RCV001843531 RCV001004085 RCV001250067 RCV001291736
HSD17B10-related disorder	Likely pathogenic	rs2521096456	RCV004534384
See cases	Likely pathogenic	rs2521092831	RCV003233011

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Neurodevelopmental delay	Conflicting classifications of pathogenicity	rs1064794694	RCV002274038
Nonpapillary renal cell carcinoma	Likely benign	rs1556895052	RCV005934671

Show/Hide Text Mining Associations (29)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	10329704, 32703935, 9553139
Anorchia	Associate	26950678
Carcinogenesis	Associate	32703935
Cardiomyopathies	Associate	28888424
Choreoathetosis Hypothyroidism And Neonatal Respiratory Distress	Associate	17236142, 22132097
Developmental Disabilities	Associate	26950678
Drug Related Side Effects and Adverse Reactions	Associate	22174920
Drug Resistant Epilepsy	Associate	22132097, 26950678
Heredodegenerative Disorders Nervous System	Associate	18252223
Intellectual Disability	Associate	18252223, 22132097
Ischemia	Associate	23834306
Learning Disabilities	Associate	22132097
Lubs X linked mental retardation syndrome	Associate	18252223
Mental Disorders	Associate	17236142
Mental Retardation X Linked	Associate	17236142
Mental Retardation X Linked 17	Stimulate	32381089
Mental Retardation X Linked Syndromic 10	Stimulate	17236142
Mental Retardation X Linked Syndromic 10	Associate	17236142, 22132097, 23834306, 26950678, 31654490
Mental Retardation X Linked Syndromic 10	Inhibit	31654490
Metabolic Diseases	Associate	22132097, 26950678
Mitochondrial Diseases	Associate	22174920, 26950678, 32703935
Neoplasm Metastasis	Associate	24244276
Neoplasms	Associate	37907864
Neurodegenerative Diseases	Associate	17236142, 28888424
Neurologic Manifestations	Associate	22132097, 9553139
Neurotoxicity Syndromes	Associate	9553139
Thyroid Neoplasms	Associate	37907864
Tic Disorders	Associate	28888424
Tiglic acidemia	Associate	23834306

HSD17B10 (hydroxysteroid 17-beta dehydrogenase 10)