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
- HGNC: 4800
- Entrez Gene: 3028
- Ensembl: ENSG00000072506
- OMIM: 300256
- UniProtKB: Q99714
Previous HGNC Symbols for HSD17B10 Gene
- HADH2
- MRXS10
Previous GeneCards Identifiers for HSD17B10 Gene
- GC0XM053475
- GC0XM050515
Summaries 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).
Additional gene information for HSD17B10 Gene
- Monarch Initiative
- Search for HSD17B10 at DataMed
- Search for HSD17B10 at HumanCyc
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
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around HSD17B10 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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:
-
- Xp11.22 by Entrez Gene
- Xp11.22 by HGNC
- Xp11.22 by Ensembl
HSD17B10 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression for HSD17B10 Gene
Post-translational modifications for HSD17B10 Gene
Other Protein References for HSD17B10 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for HSD17B10
- Invitrogen Antibodies for HSD17B10
- GeneTex HSD17B10 Antibody for HSD17B10
-
Santa Cruz Biotechnology (SCBT) Antibodies for HSD17B10
Protein Products
-
OriGene Purified Proteins for HSD17B10
- Search Origene for MassSpec and Protein Over-expression Lysates for HSD17B10
- Origene Custom Protein Services for HSD17B10
- ProSpec Recombinant Proteins for HSD17B10
- Search GeneTex for Proteins for HSD17B10
-
ProSci Proteins for HSD17B10
Assay Products
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
Protein Domains for HSD17B10 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for HSD17B10 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q99714UniProtKB/Swiss-Prot:
HCD2_HUMAN :- Belongs to the short-chain dehydrogenases/reductases (SDR) family.
- Family:
-
- Belongs to the short-chain dehydrogenases/reductases (SDR) family.
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
| 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 |
Phenotypes for HSD17B10 Gene
- GenomeRNAi human phenotypes for HSD17B10:
-
- Decreased viability ratio
- Increased shRNA abundance (Z-score > 2)
- Decreased viability in esophageal squamous lineage
- Decreased shRNA abundance (Z-score < -2)
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Increased gamma-H2AX phosphorylation
- shRNA abundance <= 50%
- Decreased IL-8 secretion
- Lamellipodia cells
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for HSD17B10
-
CRISPR Products
-
OriGene CRISPR knockouts for HSD17B10
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HSD17B10
- genomics-online: gRNA clones - Search results for 157 available HSD17B10 gene related products
- Overview of 157 available HSD17B10 gene related products
- Applied Biological Materials CRISPR for HSD17B10
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for HSD17B10
- GenScript: Design CRISPR guide RNA sequences for HSD17B10
miRNA for HSD17B10 Gene
- miRTarBase miRNAs that target HSD17B10
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for HSD17B10
- Browse OriGene Inhibitory RNA Products For HSD17B10
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HSD17B10
- genomics-online: shRNA clones - Search results for 157 available HSD17B10 gene related products
- Overview of 157 available HSD17B10 gene related products
Clone Products
- Sino Biological Human cDNA Clone for HSD17B10
- VectorBuilder custom plasmid, inducible vectors for HSD17B10
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for HSD17B10
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for HSD17B10
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HSD17B10
- Applied Biological Materials Clones for HSD17B10
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| plasma membrane | 4 |
| nucleus | 2 |
| endoplasmic reticulum | 2 |
| golgi apparatus | 2 |
| extracellular | 1 |
| cytosol | 1 |
| 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 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for HSD17B10 Gene
Pathways & Interactions for HSD17B10 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Valine, leucine and isoleucine degradation | ||
| 2 | tRNA processing |
.55
|
|
| 3 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. | ||
| 4 | Metabolism |
.37
|
|
| 5 | Gene Expression |
.48
|
|
Pathways by source for HSD17B10 Gene
5 BioSystems pathways for HSD17B10 Gene
9 Reactome pathways for HSD17B10 Gene
3 KEGG pathways for HSD17B10 Gene
Interacting Proteins for HSD17B10 Gene
Selected Interacting proteins:
Q99714-HCD2_HUMAN
ENSP00000168216
for HSD17B10 Gene via
IID
MINT
STRING
UniProtKB
GPS-Prot Interaction Network for HSD17B10
| 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 |
No data available for SIGNOR curated interactions for HSD17B10 Gene
Drugs & Compounds for HSD17B10 Gene
| 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 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 2-methyl-3-hydroxybutyryl-coa |
|
52227-66-4 | ||||
| (S)-3-Hydroxydodecanoyl-CoA |
|
72059-49-5 |
|
|||
| (S)-3-Hydroxyhexadecanoyl-CoA |
|
35106-50-4 |
|
|||
| (S)-3-Hydroxytetradecanoyl-CoA |
|
|
||||
| (S)-Hydroxydecanoyl-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 |
Transcripts for HSD17B10 Gene
mRNA/cDNA for HSD17B10 Gene
- (353) Selected AceView cDNA sequences:
- (9) Additional mRNA sequences :
- (2) REFSEQ mRNAs :
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000168216 960 bps (uc004dsl.2)
- ENST00000375298 823 bps (uc064zkz.1)
- ENST00000375304 916 bps (uc004dsm.2)
- ENST00000477706 556 bps (uc064zky.1)
- ENST00000495986 666 bps (uc064zla.1)
Unigene Clusters for HSD17B10 Gene
CRISPR Products
-
OriGene CRISPR knockouts for HSD17B10
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HSD17B10
- genomics-online: gRNA clones - Search results for 157 available HSD17B10 gene related products
- Overview of 157 available HSD17B10 gene related products
- Applied Biological Materials CRISPR for HSD17B10
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for HSD17B10
- GenScript: Design CRISPR guide RNA sequences for HSD17B10
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for HSD17B10
- Browse OriGene Inhibitory RNA Products For HSD17B10
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HSD17B10
- genomics-online: shRNA clones - Search results for 157 available HSD17B10 gene related products
- Overview of 157 available HSD17B10 gene related products
Clone Products
- Sino Biological Human cDNA Clone for HSD17B10
- VectorBuilder custom plasmid, inducible vectors for HSD17B10
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for HSD17B10
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for HSD17B10
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HSD17B10
- Applied Biological Materials Clones for HSD17B10
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5a | · | 5b | · | 5c | ^ | 6a | · | 6b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | |||||||||||||||||||||||||
| SP2: | - | - | - | - | - | ||||||||||||||||||||||||
| SP3: | - | - | - | ||||||||||||||||||||||||||
| SP4: | - | ||||||||||||||||||||||||||||
| SP5: | - | - | - | ||||||||||||||||||||||||||
| SP6: | - |
Expression for HSD17B10 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Kidney (Urinary System)
- Eye (Sensory Organs)
- Thymus (Hematopoietic System)
- Bone (Muscoskeletal System)
- Neural Tube (Nervous System)
-
Adipose (Muscoskeletal System)
-
Liver (Hepatobiliary System)
-
Esophagus (Gastrointestinal Tract)
-
Adrenal Gland (Endocrine System)
-
Thyroid (Endocrine System)
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HSD17B10 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of HSD17B10 Gene:
HSD17B10SOURCE GeneReport for Unigene cluster for HSD17B10 Gene:
Hs.171280mRNA 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
Primer Products
-
OriGene qPCR primer pairs and template standards for HSD17B10
-
OriGene qPCR primer pairs for HSD17B10
- genomics-online: primer clones - Search results for 157 available HSD17B10 gene related products
- Overview of 157 available HSD17B10 gene related products
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HSD17B10 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | HSD17B10 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | HSD17B10 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Hsd17b10 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Hsd17b10 16 34 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | HSD17B10 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | HSD17B10 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| lizard (Anolis carolinensis) |
Reptilia | HSD17B10 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | hsd17b10 33 |
|
||
| Str.8711 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.7710 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | hsd17b10 34 33 |
|
OneToOne | |
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9437 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | scu 34 33 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003414 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | ard-1 34 33 |
|
OneToOne | |
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.827 34 |
|
OneToOne | |
| Cin.3465 33 |
|
||||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU11196 33 |
|
||
| 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
Variants 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSD17B10 Gene
Disorders for HSD17B10 Gene
(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 |
|
|
| 2-methyl-3-hydroxybutyric aciduria |
|
|
| alpha-methylacetoacetic aciduria |
|
|
| syndromic x-linked intellectual disability type 10 |
|
|
| spastic diplegia |
|
|
Search HSD17B10 in MalaCards
View complete list of genes associated with diseases
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
No data available for Genatlas for HSD17B10 Gene
Publications for HSD17B10 Gene
- 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
- 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
- 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
- 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
- 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
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Human Proteins and Enzymes
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for HSD17B10
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for HSD17B10
- Search Origene for MassSpec and Protein Over-expression Lysates for HSD17B10
- Origene Custom Protein Services for HSD17B10
- Origene sirna, shrna, and RNAi products in human, mouse, rat for HSD17B10
- Browse OriGene Inhibitory RNA Products For HSD17B10
- OriGene qPCR primer pairs and template standards for HSD17B10
- OriGene qPCR primer pairs for HSD17B10
- OriGene CRISPR knockouts for HSD17B10
- OriGene ORF clones in human for HSD17B10
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For HSD17B10
- GenScript: Next-day shipping of latest version cDNA ORF clones for HSD17B10 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for HSD17B10
- GenScript Custom Assay Services for HSD17B10
- GenScript Custom overexpressing Cell Line Services for HSD17B10
- GenScript: Design CRISPR guide RNA sequences for HSD17B10
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for HSD17B10
- Sino Biological Human cDNA Clone for HSD17B10
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse Sino Biological ELISA Kits
- Browse Sino Biological ELISA Pair Sets
- Browse Sino Biological CRO Services
- Browse Sino Biological Control Vectors
- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for HSD17B10
- Novus Biologicals proteins and lysates for HSD17B10
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- ProSpec Recombinant Proteins for HSD17B10
- Invitrogen Antibodies for HSD17B10
- ApexBio compounds for HSD17B10
- Cyagen custom Knockout/knockin (KOKI) mouse models for HSD17B10
- VectorBuilder custom plasmid, inducible vectors for HSD17B10
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for HSD17B10
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for HSD17B10
- antibodies-online: Search results for 126 available HSD17B10 Antibodies ranked by validation data
- Compare Top HSD17B10 Antibodies
- Quality Products:
- antibodies-online: Search results for 16 available HSD17B10 Elisa Kits ranked by validation data
- Compare Top HSD17B10 Elisa Kits
- Quality Products:
- antibodies-online: Search results for 21 available HSD17B10 Proteins ranked by validation data
- Compare Top HSD17B10 Proteins
- GeneTex HSD17B10 Antibody for HSD17B10
- Search GeneTex for Proteins for HSD17B10
- Santa Cruz Biotechnology (SCBT) Antibodies for HSD17B10
- Search Santa Cruz Biotechnology (SCBT) for HSD17B10 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for HSD17B10
- Search for HSD17B10 Antibodies at ProSci
- Custom Antibody Services
- ProSci Proteins for HSD17B10
- genomics-online: cdna clones - Search results for 157 available HSD17B10 gene related products
- Overview of 157 available HSD17B10 gene related products
- orf clones - Search results for 157 available HSD17B10 gene related products
- Overview of 157 available HSD17B10 gene related products
- genomics-online: gRNA clones - Search results for 157 available HSD17B10 gene related products
- Overview of 157 available HSD17B10 gene related products
- genomics-online: primer clones - Search results for 157 available HSD17B10 gene related products
- Overview of 157 available HSD17B10 gene related products
- genomics-online: shRNA clones - Search results for 157 available HSD17B10 gene related products
- Overview of 157 available HSD17B10 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HSD17B10
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HSD17B10
- GeneCopoeia miRNA 3'UTR Target clone products for HSD17B10
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HSD17B10
Sources for HSD17B10 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio