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Aliases for HSD17B10 Gene

Aliases for HSD17B10 Gene

  • Hydroxysteroid 17-Beta Dehydrogenase 10 2 3 5
  • Endoplasmic Reticulum-Associated Amyloid Beta-Peptide-Binding Protein 3 4
  • 3-Hydroxy-2-Methylbutyryl-CoA Dehydrogenase 3 4
  • Mitochondrial Ribonuclease P Protein 2 3 4
  • AB-Binding Alcohol Dehydrogenase 2 3
  • Mitochondrial RNase P Subunit 2 2 3
  • SDR5C1 3 4
  • HADH2 3 4
  • MRPP2 3 4
  • SCHAD 3 4
  • ERAB 3 4
  • MHBD 3 4
  • Hydroxyacyl-Coenzyme A Dehydrogenase, Type II, Hydroxyacyl-Coenzyme A Dehydrogenase, Type II 2
  • Short Chain Dehydrogenase/Reductase Family 5C, Member 1 2
  • Short Chain Dehydrogenase/Reductase Family 5C Member 1 4
  • Short Chain L-3-Hydroxyacyl-CoA Dehydrogenase Type 2 3
  • Amyloid-Beta Peptide Binding Alcohol Dehydrogenase 3
  • Short Chain Type Dehydrogenase/Reductase XH98G2 3
  • Short-Chain Type Dehydrogenase/Reductase XH98G2 4
  • 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase 4
  • Type 10 17beta-Hydroxysteroid Dehydrogenase 2
  • Mental Retardation, X-Linked, Syndromic 10 2
  • Hydroxysteroid (17-Beta) Dehydrogenase 10 2
  • 17-Beta-Hydroxysteroid Dehydrogenase 10 4
  • 3-Hydroxyacyl-CoA Dehydrogenase Type II 4
  • 3-Hydroxyacyl-CoA Dehydrogenase Type-2 3
  • Mitochondrial RNase P Protein 2 4
  • Type 10 17b-HSD 2
  • 17-Beta-HSD 10 4
  • Type II HADH 4
  • EC 1.1.1.178 4
  • EC 1.1.1.35 4
  • EC 1.1.1.51 4
  • DUPXp11.22 3
  • 17b-HSD10 3
  • HSD10MD 3
  • MRXS10 3
  • XH98G2 4
  • MRX17 3
  • MRX31 3
  • ABAD 3
  • CAMR 3
  • HCD2 3

External Ids for HSD17B10 Gene

Previous HGNC Symbols for HSD17B10 Gene

  • HADH2
  • MRXS10

Previous GeneCards Identifiers for HSD17B10 Gene

  • GC0XM053475
  • GC0XM050515

Summaries for HSD17B10 Gene

Entrez Gene Summary for HSD17B10 Gene

  • 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 subunit of mitochondrial ribonuclease P, which is involved in tRNA maturation. The protein has been implicated in the development of Alzheimer disease, and mutations in the gene are the cause of 17beta-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency. Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Aug 2014]

GeneCards Summary for HSD17B10 Gene

HSD17B10 (Hydroxysteroid 17-Beta Dehydrogenase 10) is a Protein Coding gene. Diseases associated with HSD17B10 include Hsd10 Mitochondrial Disease and 2-Methyl-3-Hydroxybutyric Aciduria. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and rRNA processing in the nucleus and cytosol. Gene Ontology (GO) annotations related to this gene include 3-hydroxyacyl-CoA dehydrogenase activity. An important paralog of this gene is HSD17B8.

UniProtKB/Swiss-Prot for HSD17B10 Gene

  • Mitochondrial dehydrogenase that catalyzes the beta-oxidation at position 17 of androgens and estrogens and has 3-alpha-hydroxysteroid dehydrogenase activity with androsterone (PubMed:9553139, PubMed:23042678, PubMed:12917011, PubMed:18996107, PubMed:25925575, PubMed:28888424). Catalyzes the third step in the beta-oxidation of fatty acids (PubMed:9553139, PubMed:12917011, PubMed:18996107, PubMed:25925575, PubMed:28888424). Carries out oxidative conversions of 7-alpha-OH and 7-beta-OH bile acids (PubMed:12917011). Also exhibits 20-beta-OH and 21-OH dehydrogenase activities with C21 steroids (PubMed:12917011). By interacting with intracellular amyloid-beta, it may contribute to the neuronal dysfunction associated with Alzheimer disease (AD) (PubMed:9338779). Essential for structural and functional integrity of mitochondria (PubMed:20077426).

  • In addition to mitochondrial dehydrogenase activity, moonlights as a component of mitochondrial ribonuclease P, a complex that cleaves tRNA molecules in their 5-ends (PubMed:18984158, PubMed:24549042, PubMed:25925575, PubMed:26950678, PubMed:28888424). Together with HSD17B10/MRPP2, forms a subcomplex of the mitochondrial ribonuclease P, named MRPP1-MRPP2 subcomplex, which displays functions that are independent of the ribonuclease P activity (PubMed:23042678, PubMed:29040705). The MRPP1-MRPP2 subcomplex catalyzes the formation of N(1)-methylguanine and N(1)-methyladenine at position 9 (m1G9 and m1A9, respectively) in tRNAs; HSD17B10/MRPP2 acting as a non-catalytic subunit (PubMed:23042678, PubMed:25925575, PubMed:28888424). The MRPP1-MRPP2 subcomplex also acts as a tRNA maturation platform: following 5-end cleavage by the mitochondrial ribonuclease P complex, the MRPP1-MRPP2 subcomplex enhances the efficiency of 3-processing catalyzed by ELAC2, retains the tRNA product after ELAC2 processing and presents the nascent tRNA to the mitochondrial CCA tRNA nucleotidyltransferase TRNT1 enzyme (PubMed:29040705).

Gene Wiki entry for HSD17B10 Gene

Additional gene information for HSD17B10 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HSD17B10 Gene

Genomics for HSD17B10 Gene

GeneHancer (GH) Regulatory Elements for HSD17B10 Gene

Promoters and enhancers for HSD17B10 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ053433 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 664.5 +0.1 88 1.8 HDGF PKNOX1 ATF1 ARID4B SIN3A DMAP1 YY1 POLR2B GLIS2 SP3 HSD17B10 ENSG00000233250
GH0XJ053436 Enhancer 0.6 ENCODE 650.7 -1.8 -1803 0.2 CTCF MXI1 TFAP4 ZNF654 MAX TRIM22 REST RAD21 SMC3 ZNF143 HSD17B10 GC0XM053456
GH0XJ053420 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 14.1 +12.0 12046 2.8 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF213 SMC1A RIBC1 KDM5C FAM156B TSPYL2 GPR173 ACTG1P10 KDM5C-IT1 PHF8 ENSG00000233250
GH0XJ053681 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 10.5 -250.0 -250023 6 HDGF PKNOX1 CLOCK SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 HUWE1 FAM156B PHF8 KANTR ACTG1P10 ENSG00000233250 TSPYL2 KDM5C FGD1 HSD17B10
GH0XJ053440 Enhancer 1.3 FANTOM5 Ensembl ENCODE 14.2 -6.9 -6925 2.6 ARID4B KLF17 SIN3A ZNF335 GLIS2 SCRT2 ZNF416 RCOR1 FOS KLF13 HSD17B10 HUWE1 KANTR ACTG1P10 FAM156B IQSEC2 KDM5C TSPYL2 FAM156A GC0XM053456
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HSD17B10 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HSD17B10 gene promoter:

Genomic Locations for HSD17B10 Gene

Genomic Locations for HSD17B10 Gene
chrX:53,431,258-53,434,376
(GRCh38/hg38)
Size:
3,119 bases
Orientation:
Minus strand
chrX:53,458,206-53,461,323
(GRCh37/hg19)

Genomic View for HSD17B10 Gene

Genes around HSD17B10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HSD17B10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HSD17B10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSD17B10 Gene

Proteins for HSD17B10 Gene

  • Protein details for HSD17B10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99714-HCD2_HUMAN
    Recommended name:
    3-hydroxyacyl-CoA dehydrogenase type-2
    Protein Accession:
    Q99714
    Secondary Accessions:
    • Q5H927
    • Q6IBS9
    • Q8TCV9
    • Q96HD5

    Protein attributes for HSD17B10 Gene

    Size:
    261 amino acids
    Molecular mass:
    26923 Da
    Quaternary structure:
    • Homotetramer (PubMed:15342248, PubMed:20077426, PubMed:25925575). Component of mitochondrial ribonuclease P, a complex composed of TRMT10C/MRPP1, HSD17B10/MRPP2 and MRPP31 (PubMed:18984158, PubMed:25925575, PubMed:26950678, PubMed:28888424). Interacts with TRMT10C/MRPP1; forming the MRPP1-MRPP2 subcomplex of the mitochondrial ribonuclease P complex (PubMed:23042678, PubMed:29040705).

    Three dimensional structures from OCA and Proteopedia for HSD17B10 Gene

    Alternative splice isoforms for HSD17B10 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HSD17B10 Gene

Post-translational modifications for HSD17B10 Gene

  • Ubiquitination at Lys99
  • Modification sites at PhosphoSitePlus

Other Protein References for HSD17B10 Gene

No data available for DME Specific Peptides for HSD17B10 Gene

Domains & Families for HSD17B10 Gene

Gene Families for HSD17B10 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for HSD17B10 Gene

Graphical View of Domain Structure for InterPro Entry

Q99714

UniProtKB/Swiss-Prot:

HCD2_HUMAN :
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Family:
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
genes like me logo Genes that share domains with HSD17B10: view

Function for HSD17B10 Gene

Molecular function for HSD17B10 Gene

UniProtKB/Swiss-Prot Function:
Mitochondrial dehydrogenase that catalyzes the beta-oxidation at position 17 of androgens and estrogens and has 3-alpha-hydroxysteroid dehydrogenase activity with androsterone (PubMed:9553139, PubMed:23042678, PubMed:12917011, PubMed:18996107, PubMed:25925575, PubMed:28888424). Catalyzes the third step in the beta-oxidation of fatty acids (PubMed:9553139, PubMed:12917011, PubMed:18996107, PubMed:25925575, PubMed:28888424). Carries out oxidative conversions of 7-alpha-OH and 7-beta-OH bile acids (PubMed:12917011). Also exhibits 20-beta-OH and 21-OH dehydrogenase activities with C21 steroids (PubMed:12917011). By interacting with intracellular amyloid-beta, it may contribute to the neuronal dysfunction associated with Alzheimer disease (AD) (PubMed:9338779). Essential for structural and functional integrity of mitochondria (PubMed:20077426).
UniProtKB/Swiss-Prot Function:
In addition to mitochondrial dehydrogenase activity, moonlights as a component of mitochondrial ribonuclease P, a complex that cleaves tRNA molecules in their 5-ends (PubMed:18984158, PubMed:24549042, PubMed:25925575, PubMed:26950678, PubMed:28888424). Together with HSD17B10/MRPP2, forms a subcomplex of the mitochondrial ribonuclease P, named MRPP1-MRPP2 subcomplex, which displays functions that are independent of the ribonuclease P activity (PubMed:23042678, PubMed:29040705). The MRPP1-MRPP2 subcomplex catalyzes the formation of N(1)-methylguanine and N(1)-methyladenine at position 9 (m1G9 and m1A9, respectively) in tRNAs; HSD17B10/MRPP2 acting as a non-catalytic subunit (PubMed:23042678, PubMed:25925575, PubMed:28888424). The MRPP1-MRPP2 subcomplex also acts as a tRNA maturation platform: following 5-end cleavage by the mitochondrial ribonuclease P complex, the MRPP1-MRPP2 subcomplex enhances the efficiency of 3-processing catalyzed by ELAC2, retains the tRNA product after ELAC2 processing and presents the nascent tRNA to the mitochondrial CCA tRNA nucleotidyltransferase TRNT1 enzyme (PubMed:29040705).
UniProtKB/Swiss-Prot CatalyticActivity:
(2S,3S)-3-hydroxy-2-methylbutanoyl-CoA + NAD(+) = 2-methylacetoacetyl-CoA + NADH.
UniProtKB/Swiss-Prot CatalyticActivity:
Testosterone + NAD(P)(+) = androst-4-ene-3,17-dione + NAD(P)H.
UniProtKB/Swiss-Prot CatalyticActivity:
(S)-3-hydroxyacyl-CoA + NAD(+) = 3-oxoacyl-CoA + NADH.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=25.7 uM for acetoacetyl-CoA (in the presence of 0.2 mM NADH, at pH 7.0 and 25 degrees Celsius) {ECO:0000269 PubMed:12917011}; KM=85.2 uM for beta-hydroxybutyryl-CoA (in the presence of 1 mM NAD, at pH 9.3 and 25 degrees Celsius) {ECO:0000269 PubMed:12917011}; KM=41 uM for androsterone (in the presence of 1 mM NAD, at pH 9.3 and 25 degrees Celsius) {ECO:0000269 PubMed:12917011}; KM=5 uM for 5-alpha-pregnan-20-beta-ol-3-one (in the presence of 1 mM NAD, at pH 9.3 and 25 degrees Celsius) {ECO:0000269 PubMed:12917011}; KM=219 uM for isoursodeoxycholic acid (in the presence of 1 mM NAD, at pH 9.3 and 25 degrees Celsius) {ECO:0000269 PubMed:12917011}; KM=36.4 uM for chenodeoxycholic acid (in the presence of 1 mM NAD, at pH 9.3 and 25 degrees Celsius) {ECO:0000269 PubMed:12917011}; KM=1.7 uM for dehydrocorticosterone (in the presence of 1 mM NAD, at pH 9.3 and 25 degrees Celsius) {ECO:0000269 PubMed:12917011}; KM=30.6 uM for NADH (in the presence of acetoacetyl-CoA, at pH 7.0 and 25 degrees Celsius) {ECO:0000269 PubMed:12917011}; KM=42.3 uM for NAD (in the presence of beta-hydroxybutyryl-CoA, at pH 9.3 and 25 degrees Celsius) {ECO:0000269 PubMed:12917011}; KM=69 uM for for DL-3-hydroxybutyryl-CoA {ECO:0000269 PubMed:28888424}; KM=7.7 uM for for allopregnanolone {ECO:0000269 PubMed:28888424}; Note=Kcat is 458 min(-1) for DL-3-hydroxybutyryl-CoA (PubMed:28888424). Kcat is 706 min(-1) for allopregnanolone (PubMed:28888424). {ECO:0000269 PubMed:28888424}; pH dependence: Optimum pH is 9.3 for the dehydrogenase reaction at 25 degrees Celsius, and 7.0 for the reductase reaction at 25 degrees Celsius. {ECO:0000269 PubMed:12917011};

Enzyme Numbers (IUBMB) for HSD17B10 Gene

Gene Ontology (GO) - Molecular Function for HSD17B10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000049 tRNA binding IDA 29040705
GO:0003723 RNA binding HDA 22681889
GO:0003857 3-hydroxyacyl-CoA dehydrogenase activity EXP,IDA 23042678
GO:0005515 protein binding IPI 9338779
GO:0008709 cholate 7-alpha-dehydrogenase activity TAS 9338779
genes like me logo Genes that share ontologies with HSD17B10: view
genes like me logo Genes that share phenotypes with HSD17B10: view

Human Phenotype Ontology for HSD17B10 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Clone Products

No data available for Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for HSD17B10 Gene

Localization for HSD17B10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HSD17B10 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HSD17B10 gene
Compartment Confidence
mitochondrion 5
plasma membrane 4
nucleus 2
endoplasmic reticulum 2
golgi apparatus 2
extracellular 1
cytosol 1

Gene Ontology (GO) - Cellular Components for HSD17B10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS 9338779
GO:0005739 mitochondrion IDA,ISS --
GO:0005759 mitochondrial matrix TAS --
GO:0005886 plasma membrane TAS 9338779
GO:0030678 mitochondrial ribonuclease P complex TAS,IDA 23042678
genes like me logo Genes that share ontologies with HSD17B10: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HSD17B10 Gene

Pathways & Interactions for HSD17B10 Gene

genes like me logo Genes that share pathways with HSD17B10: view

Gene Ontology (GO) - Biological Process for HSD17B10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process TAS 9338779
GO:0007005 mitochondrion organization IMP 20077426
GO:0008033 tRNA processing IEA --
GO:0009083 branched-chain amino acid catabolic process TAS --
GO:0051289 protein homotetramerization IDA 25925575
genes like me logo Genes that share ontologies with HSD17B10: view

No data available for SIGNOR curated interactions for HSD17B10 Gene

Drugs & Compounds for HSD17B10 Gene

(18) Drugs for HSD17B10 Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Omega-3-carboxylic acids Approved, Investigational Pharma Target, potentiator 0
Gimeracil Approved Pharma Dihydropyrimidine dehydrogenase inhibitor 0
Mycophenolate mofetil Approved, Investigational Pharma IMPDH inhibitor 987
Stiripentol Approved Pharma An LDH inhibitor 9

(30) Additional Compounds for HSD17B10 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-methyl-3-hydroxybutyryl-coa
  • (2S,3S)-3-Hydroxy-2-methylbutanoyl-CoA
  • (2S,3S)-3-Hydroxy-2-methylbutanoyl-coenzyme A
  • (2S,3S)-3-Hydroxy-2-methylbutyryl-CoA
  • (2S,3S)-3-Hydroxy-2-methylbutyryl-coenzyme A
  • (S)-3-Hydroxy-2-methylbutyryl-CoA
52227-66-4
(S)-3-Hydroxydodecanoyl-CoA
  • (S)-3-Hydroxydodecanoyl-coenzyme A
  • (S)-3-Hydroxylauroyl-CoA
  • (S)-3-Hydroxylauroyl-coenzyme A
72059-49-5
(S)-3-Hydroxyhexadecanoyl-CoA
  • (S)-3-Hydroxyhexadecanoyl-coenzyme A
  • (S)-3-Hydroxypalmitoyl-coenzyme A
  • b-Hydroxypalmitoyl-CoA
  • b-Hydroxypalmitoyl-coenzyme A
  • beta-Hydroxypalmitoyl-CoA
35106-50-4
(S)-3-Hydroxytetradecanoyl-CoA
  • (S)-3-Hydroxytetradecanoyl-coa.
  • (S)-3-Hydroxytetradecanoyl-coenzyme A.
(S)-Hydroxydecanoyl-CoA
  • (S)-3-Hydroxydecanoyl-CoA
  • (S)-3-Hydroxydecanoyl-coenzyme A
  • 3-Hydroxydecanoyl-CoA
  • 3-Hydroxydecanoyl-coenzyme A
  • 3S-Hydroxy-decanoyl-CoA
6245-70-1

(7) ApexBio Compounds for HSD17B10 Gene

Compound Action Cas Number
AGI-6780 IDH2/R140Q mutation inhibitor 1432660-47-3
CPI-613 PDH/α-KGDH inhibitor 95809-78-2
Gimeracil Dihydropyrimidine dehydrogenase inhibitor 103766-25-2
Isosafrole A stiripentol analog, a potent LDH inhibitor. 120-58-1
Mycophenolate Mofetil IMPDH inhibitor 128794-94-5
Stiripentol An LDH inhibitor 49763-96-4
Trilostane 13647-35-3
genes like me logo Genes that share compounds with HSD17B10: view

Drug Products

Transcripts for HSD17B10 Gene

mRNA/cDNA for HSD17B10 Gene

Unigene Clusters for HSD17B10 Gene

Hydroxysteroid (17-beta) dehydrogenase 10:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HSD17B10 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b
SP1: - - - -
SP2: - - - - -
SP3: - - -
SP4: -
SP5: - - -
SP6: -

Relevant External Links for HSD17B10 Gene

GeneLoc Exon Structure for
HSD17B10
ECgene alternative splicing isoforms for
HSD17B10

Expression for HSD17B10 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HSD17B10 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HSD17B10 Gene



Protein tissue co-expression partners for HSD17B10 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HSD17B10 Gene:

HSD17B10

SOURCE GeneReport for Unigene cluster for HSD17B10 Gene:

Hs.171280

mRNA Expression by UniProt/SwissProt for HSD17B10 Gene:

Q99714-HCD2_HUMAN
Tissue specificity: Ubiquitously expressed in normal tissues but is overexpressed in neurons affected in AD.

Evidence on tissue expression from TISSUES for HSD17B10 Gene

  • Nervous system(4.6)
  • Liver(4.5)
  • Lung(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HSD17B10 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • head
Thorax:
  • heart
  • heart valve
Abdomen:
  • adrenal gland
Limb:
  • digit
  • finger
  • hand
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
genes like me logo Genes that share expression patterns with HSD17B10: view

No data available for mRNA differential expression in normal tissues and Protein differential expression in normal tissues for HSD17B10 Gene

Orthologs for HSD17B10 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for HSD17B10 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HSD17B10 34 33
  • 99.74 (n)
OneToOne
cow
(Bos Taurus)
Mammalia HSD17B10 34 33
  • 90.17 (n)
OneToOne
dog
(Canis familiaris)
Mammalia HSD17B10 34 33
  • 88.89 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hsd17b10 33
  • 86.08 (n)
mouse
(Mus musculus)
Mammalia Hsd17b10 16 34 33
  • 85.44 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HSD17B10 34
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HSD17B10 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 81 (a)
OneToMany
-- 34
  • 63 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia HSD17B10 34
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hsd17b10 33
  • 71.3 (n)
Str.8711 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.7710 33
zebrafish
(Danio rerio)
Actinopterygii hsd17b10 34 33
  • 67.7 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9437 33
fruit fly
(Drosophila melanogaster)
Insecta scu 34 33
  • 66.93 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003414 33
  • 64.83 (n)
worm
(Caenorhabditis elegans)
Secernentea ard-1 34 33
  • 56.73 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.827 34
  • 68 (a)
OneToOne
Cin.3465 33
bread mold
(Neurospora crassa)
Ascomycetes NCU11196 33
  • 51.21 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3465 33
Species where no ortholog for HSD17B10 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HSD17B10 Gene

ENSEMBL:
Gene Tree for HSD17B10 (if available)
TreeFam:
Gene Tree for HSD17B10 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HSD17B10: view image

Paralogs for HSD17B10 Gene

Paralogs for HSD17B10 Gene

(3) SIMAP similar genes for HSD17B10 Gene using alignment to 2 proteins:

  • HCD2_HUMAN
  • Q5H928_HUMAN
genes like me logo Genes that share paralogs with HSD17B10: view

Variants for HSD17B10 Gene

Sequence variations from dbSNP and Humsavar for HSD17B10 Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs104886492 uncertain-significance, pathogenic, not specified, 2-methyl-3-hydroxybutyric aciduria, HDS10 mitochondrial disease (HSD10MD) [MIM:300438] 53,432,410(-) A/G coding_sequence_variant, missense_variant
rs122461163 pathogenic, 2-methyl-3-hydroxybutyric aciduria, HDS10 mitochondrial disease (HSD10MD) [MIM:300438] 53,431,450(-) T/C coding_sequence_variant, missense_variant
rs122462164 pathogenic, 2-methyl-3-hydroxybutyric aciduria 53,431,819(-) G/T coding_sequence_variant, intron_variant, synonymous_variant
rs28935475 pathogenic, 2-methyl-3-hydroxybutyric aciduria, HDS10 mitochondrial disease (HSD10MD) [MIM:300438] 53,432,086(-) G/A coding_sequence_variant, missense_variant
rs28935476 pathogenic, 2-methyl-3-hydroxybutyric aciduria, HDS10 mitochondrial disease (HSD10MD) [MIM:300438] 53,432,110(-) G/C coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for HSD17B10 Gene

Variant ID Type Subtype PubMed ID
esv2740175 CNV deletion 23290073
nsv435891 CNV deletion 17901297
nsv6908 CNV insertion 18451855

Variation tolerance for HSD17B10 Gene

Residual Variation Intolerance Score: 46.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.19; 4.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HSD17B10 Gene

Human Gene Mutation Database (HGMD)
HSD17B10
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HSD17B10

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSD17B10 Gene

Disorders for HSD17B10 Gene

MalaCards: The human disease database

(10) MalaCards diseases for HSD17B10 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hsd10 mitochondrial disease
  • hsd10md
2-methyl-3-hydroxybutyric aciduria
  • 2-methyl-3-hydroxybutyryl-coa dehydrogenase deficiency
alpha-methylacetoacetic aciduria
  • 2-methyl-3-hydroxybutyric acidemia
syndromic x-linked intellectual disability type 10
  • mrxs10
spastic diplegia
  • cerebral palsy
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

HCD2_HUMAN
  • HDS10 mitochondrial disease (HSD10MD) [MIM:300438]: An X-linked multisystemic disorder with highly variable severity. Age at onset ranges from the neonatal period to early childhood. Features include progressive neurodegeneration, psychomotor retardation, loss of mental and motor skills, seizures, cardiomyopathy, and visual and hearing impairment. Some patients manifest lactic acidosis and metabolic acidosis. {ECO:0000269 PubMed:12696021, ECO:0000269 PubMed:16148061, ECO:0000269 PubMed:17236142, ECO:0000269 PubMed:18996107, ECO:0000269 PubMed:19706438, ECO:0000269 PubMed:20077426, ECO:0000269 PubMed:22132097, ECO:0000269 PubMed:24549042, ECO:0000269 PubMed:25575635, ECO:0000269 PubMed:25925575, ECO:0000269 PubMed:26950678, ECO:0000269 PubMed:28888424}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mental retardation, X-linked 17 (MRX17) [MIM:300705]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. {ECO:0000269 PubMed:18252223}. Note=The gene represented in this entry is involved in disease pathogenesis. A chromosomal microduplication involving HSD17B10 and HUWE1 has been found in patients with mental retardation.

Additional Disease Information for HSD17B10

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HSD17B10: view

No data available for Genatlas for HSD17B10 Gene

Publications for HSD17B10 Gene

  1. The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior. (PMID: 17236142) Lenski C … Ramser J (American journal of human genetics 2007) 2 3 4 22 58
  2. An intracellular protein that binds amyloid-beta peptide and mediates neurotoxicity in Alzheimer's disease. (PMID: 9338779) Yan SD … Stern D (Nature 1997) 2 3 4 22 58
  3. A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival. (PMID: 20077426) Rauschenberger K … Zschocke J (EMBO molecular medicine 2010) 3 4 22 58
  4. Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism. (PMID: 19706438) Yang SY … Malik M (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 4 22 58
  5. RNase P without RNA: identification and functional reconstitution of the human mitochondrial tRNA processing enzyme. (PMID: 18984158) Holzmann J … Rossmanith W (Cell 2008) 2 3 4 58

Products for HSD17B10 Gene

Sources for HSD17B10 Gene

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