Free for academic non-profit institutions. Other users need a Commercial license
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 developme... See more...
Aliases for HSD17B10 Gene
Aliases for HSD17B10 Gene
- Hydroxysteroid 17-Beta Dehydrogenase 10 2 3 5
- SDR5C1 2 3 4
- MRPP2 2 3 4
- ERAB 2 3 4
- MHBD 2 3 4
- Endoplasmic Reticulum-Associated Amyloid Beta-Peptide-Binding Protein 3 4
- 3-Hydroxy-2-Methylbutyryl-CoA Dehydrogenase 3 4
- 3-Hydroxyacyl-CoA Dehydrogenase Type-2 3 4
- Mitochondrial Ribonuclease P Protein 2 3 4
- AB-Binding Alcohol Dehydrogenase 2 3
- Mitochondrial RNase P Subunit 2 2 3
- 17b-HSD10 2 3
- HADH2 3 4
- SCHAD 3 4
- ABAD 2 3
- CAMR 2 3
- Hydroxyacyl-Coenzyme A Dehydrogenase, Type II, Hydroxyacyl-Coenzyme A Dehydrogenase, Type II 2
- Short Chain Dehydrogenase/Reductase Family 5C, Member 1 2
- 3-Alpha-(17-Beta)-Hydroxysteroid Dehydrogenase (NAD(+)) 4
- 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
- 3alpha(Or 20beta)-Hydroxysteroid Dehydrogenase 4
- Type 10 17beta-Hydroxysteroid Dehydrogenase 2
- 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase 4
- Mental Retardation, X-Linked, Syndromic 10 2
- Hydroxysteroid (17-Beta) Dehydrogenase 10 2
- 3-Hydroxyacyl-CoA Dehydrogenase Type II 4
- 7-Alpha-Hydroxysteroid Dehydrogenase 4
- 17-Beta-Estradiol 17-Dehydrogenase 4
- Mitochondrial RNase P Protein 2 4
- Type 10 17b-HSD 2
- Type II HADH 4
- EC 1.1.1.239 4
- EC 1.1.1.178 4
- EC 1.1.1.159 4
- EC 1.1.1.35 4
- EC 1.1.1.62 4
- EC 1.1.1.53 4
- DUPXp11.22 3
- HSD17B10 5
- HSD10MD 3
- MRXS10 3
- XH98G2 4
- MRX17 3
- MRX31 3
- HCD2 3
External Ids for HSD17B10 Gene
- HGNC: 4800
- NCBI Entrez Gene: 3028
- Ensembl: ENSG00000072506
- OMIM®: 300256
- UniProtKB/Swiss-Prot: 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 Alpha-Methylacetoacetic Aciduria. Among its related pathways are Pathways of neurodegeneration - multiple diseases and fatty acid beta-oxidation (peroxisome). 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 Summary for HSD17B10 Gene
-
Mitochondrial dehydrogenase involved in pathways of fatty acid, branched-chain amino acid and steroid metabolism (PubMed:9553139, PubMed:10600649, PubMed:12917011, PubMed:20077426, PubMed:18996107, PubMed:19706438, PubMed:25925575, PubMed:26950678, PubMed:28888424). Acts as (S)-3-hydroxyacyl-CoA dehydrogenase in mitochondrial fatty acid beta-oxidation, a major degradation pathway of fatty acids. Catalyzes the third step in the beta-oxidation cycle, namely the reversible conversion of (S)-3-hydroxyacyl-CoA to 3-ketoacyl-CoA. Preferentially accepts straight medium- and short-chain acyl-CoA substrates with highest efficiency for (3S)-hydroxybutanoyl-CoA (PubMed:9553139, PubMed:10600649, PubMed:12917011, PubMed:25925575, PubMed:26950678). Acts as 3-hydroxy-2-methylbutyryl-CoA dehydrogenase in branched-chain amino acid catabolic pathway. Catalyzes the oxidation of 3-hydroxy-2-methylbutanoyl-CoA into 2-methyl-3-oxobutanoyl-CoA, a step in isoleucine degradation pathway (PubMed:20077426, PubMed:18996107, PubMed:19706438). Has hydroxysteroid dehydrogenase activity toward steroid hormones and bile acids. Catalyzes the oxidation of 3alpha-, 17beta-, 20beta- and 21-hydroxysteroids and 7alpha- and 7beta-hydroxy bile acids (PubMed:10600649, PubMed:12917011). Oxidizes allopregnanolone/brexanolone at the 3alpha-hydroxyl group, which is known to be critical for the activation of gamma-aminobutyric acid receptors (GABAARs) chloride channel (PubMed:19706438, PubMed:28888424). Has phospholipase C-like activity toward cardiolipin and its oxidized species. Likely oxidizes the 2'-hydroxyl in the head group of cardiolipin to form a ketone intermediate that undergoes nucleophilic attack by water and fragments into diacylglycerol, dihydroxyacetone and orthophosphate. Has higher affinity for cardiolipin with oxidized fatty acids and may degrade these species during the oxidative stress response to protect cells from apoptosis (PubMed:26338420). 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 TRMT10C/MRPP1, 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). Associates with mitochondrial DNA complexes at the nucleoids to initiate RNA processing and ribosome assembly.
Additional gene information for HSD17B10 Gene
- HGNC (4800)
- NCBI Entrez Gene (3028)
- Ensembl (ENSG00000072506)
- OMIM® (300256)
- UniProtKB/Swiss-Prot (Q99714)
- Open Targets Platform(ENSG00000072506)
- Monarch Initiative
- Alliance of Genome Resources
- Search for HSD17B10 at DataMed
- Search for HSD17B10 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HSD17B10 Gene
Genomics for HSD17B10 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for HSD17B10 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around HSD17B10 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HSD17B10
- Top Transcription factor binding sites by QIAGEN in the HSD17B10 gene promoter:
-
- Elk-1
- GATA-1
- GATA-2
- GATA-3
- HOXA5
- NF-1
- NF-1/L
- p53
- Tal-1beta
Genomic Locations for HSD17B10 Gene
Latest Assembly
- chrX:53,431,258-53,434,376
- (GRCh38/hg38)
- Size:
- 3,119 bases
- Orientation:
- Minus strand
Previous Assembly
- chrX:53,458,206-53,461,323
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 3,118 bases
- Orientation:
- Minus strand
Genomic View for HSD17B10 Gene
Genes around HSD17B10 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- Xp11.22 by HGNC
- Xp11.22 by Entrez Gene
- 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 PRORP/MRPP3 (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:
Antibodies for research
- LifeSpan BioSciences HSD17B10 / HADH2 Antibody
- G Biosciences Immunotag™ HSD17B10 Antibody
- GeneTex Anti-ERAB antibody [N1C3] and Anti-ERAB antibody
- NSJ Bioreagents ERAB Antibody
- Novus Biologicals Antibodies for HSD17B10
-
Abcam antibodies for HSD17B10
- Invitrogen Antibodies for HSD17B10 (AFLGC-HSD17B10)
-
Santa Cruz Biotechnology (SCBT) Antibodies for HSD17B10
Protein products for research
-
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
-
Abcam proteins for HSD17B10
Assay products for research
- Novus Biologicals ELISA Kits for HSD17B10
- antibodies-online: Show 19 available HSD17B10 Elisa Kits ranked by validation data
- Compare Top HSD17B10 Elisa Kits
-
Quality Products:
-
Boster Bio ELISA Kits for HSD17B10
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:
-
- Short-chain dehydrogenase/reductase SDR
- Glucose/ribitol dehydrogenase family signature
Suggested Antigen Peptide Sequences for HSD17B10 Gene
- GenScript: Design optimal peptide antigens:
-
- Type II HADH (HCD2_HUMAN)
- Amyloid beta-binding alcohol dehydrogenase (Q2L8D9_HUMAN)
- Hydroxysteroid (17-beta) dehydrogenase 10 (Q6IBS9_HUMAN)
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 involved in pathways of fatty acid, branched-chain amino acid and steroid metabolism (PubMed:9553139, PubMed:10600649, PubMed:12917011, PubMed:20077426, PubMed:18996107, PubMed:19706438, PubMed:25925575, PubMed:26950678, PubMed:28888424). Acts as (S)-3-hydroxyacyl-CoA dehydrogenase in mitochondrial fatty acid beta-oxidation, a major degradation pathway of fatty acids. Catalyzes the third step in the beta-oxidation cycle, namely the reversible conversion of (S)-3-hydroxyacyl-CoA to 3-ketoacyl-CoA. Preferentially accepts straight medium- and short-chain acyl-CoA substrates with highest efficiency for (3S)-hydroxybutanoyl-CoA (PubMed:9553139, PubMed:10600649, PubMed:12917011, PubMed:25925575, PubMed:26950678). Acts as 3-hydroxy-2-methylbutyryl-CoA dehydrogenase in branched-chain amino acid catabolic pathway. Catalyzes the oxidation of 3-hydroxy-2-methylbutanoyl-CoA into 2-methyl-3-oxobutanoyl-CoA, a step in isoleucine degradation pathway (PubMed:20077426, PubMed:18996107, PubMed:19706438). Has hydroxysteroid dehydrogenase activity toward steroid hormones and bile acids. Catalyzes the oxidation of 3alpha-, 17beta-, 20beta- and 21-hydroxysteroids and 7alpha- and 7beta-hydroxy bile acids (PubMed:10600649, PubMed:12917011). Oxidizes allopregnanolone/brexanolone at the 3alpha-hydroxyl group, which is known to be critical for the activation of gamma-aminobutyric acid receptors (GABAARs) chloride channel (PubMed:19706438, PubMed:28888424). Has phospholipase C-like activity toward cardiolipin and its oxidized species. Likely oxidizes the 2'-hydroxyl in the head group of cardiolipin to form a ketone intermediate that undergoes nucleophilic attack by water and fragments into diacylglycerol, dihydroxyacetone and orthophosphate. Has higher affinity for cardiolipin with oxidized fatty acids and may degrade these species during the oxidative stress response to protect cells from apoptosis (PubMed:26338420). 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 TRMT10C/MRPP1, 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). Associates with mitochondrial DNA complexes at the nucleoids to initiate RNA processing and ribosome assembly.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=a (3S)-3-hydroxy-fatty acyl-CoA + NAD(+) = a 3-oxoacyl-CoA + H(+) + NADH; Xref=Rhea:RHEA:22432, ChEBI:CHEBI:15378, ChEBI:CHEBI:57318, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:90726; EC=1.1.1.35; Evidence={ECO:0000269|PubMed:10600649, ECO:0000269|PubMed:12917011, ECO:0000269|PubMed:25925575, ECO:0000269|PubMed:26950678, ECO:0000269|PubMed:9553139};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=(2S,3S)-3-hydroxy-2-methylbutanoyl-CoA + NAD(+) = 2-methyl-3-oxobutanoyl-CoA + H(+) + NADH; Xref=Rhea:RHEA:13281, ChEBI:CHEBI:15378, ChEBI:CHEBI:57312, ChEBI:CHEBI:57335, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.178; Evidence={ECO:0000269|PubMed:18996107, ECO:0000269|PubMed:19706438, ECO:0000269|PubMed:20077426};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=NAD(+) + testosterone = androst-4-ene-3,17-dione + H(+) + NADH; Xref=Rhea:RHEA:14929, ChEBI:CHEBI:15378, ChEBI:CHEBI:16422, ChEBI:CHEBI:17347, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.239; Evidence={ECO:0000269|PubMed:12917011};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=5alpha-androstane-3alpha,17beta-diol + NAD(+) = 17beta-hydroxy-5alpha-androstan-3-one + H(+) + NADH; Xref=Rhea:RHEA:42004, ChEBI:CHEBI:15378, ChEBI:CHEBI:16330, ChEBI:CHEBI:36713, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.53; Evidence={ECO:0000269|PubMed:12917011};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=17beta-estradiol + NAD(+) = estrone + H(+) + NADH; Xref=Rhea:RHEA:24612, ChEBI:CHEBI:15378, ChEBI:CHEBI:16469, ChEBI:CHEBI:17263, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.62; Evidence={ECO:0000269|PubMed:10600649, ECO:0000269|PubMed:12917011};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=cholate + NAD(+) = 3alpha,12alpha-dihydroxy-7-oxo-5beta-cholanate + H(+) + NADH; Xref=Rhea:RHEA:19409, ChEBI:CHEBI:11893, ChEBI:CHEBI:15378, ChEBI:CHEBI:29747, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.159; Evidence={ECO:0000269|PubMed:12917011};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=(3S)-3-hydroxybutanoyl-CoA + NAD(+) = acetoacetyl-CoA + H(+) + NADH; Xref=Rhea:RHEA:30799, ChEBI:CHEBI:15378, ChEBI:CHEBI:57286, ChEBI:CHEBI:57316, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; Evidence={ECO:0000269|PubMed:10600649, ECO:0000269|PubMed:12917011, ECO:0000269|PubMed:9553139};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=(3S)-hydroxyoctanoyl-CoA + NAD(+) = 3-oxooctanoyl-CoA + H(+) + NADH; Xref=Rhea:RHEA:31195, ChEBI:CHEBI:15378, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:62617, ChEBI:CHEBI:62619; Evidence={ECO:0000269|PubMed:9553139};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=(3S)-hydroxyhexadecanoyl-CoA + NAD(+) = 3-oxohexadecanoyl-CoA + H(+) + NADH; Xref=Rhea:RHEA:31159, ChEBI:CHEBI:15378, ChEBI:CHEBI:57349, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:62613; Evidence={ECO:0000269|PubMed:9553139};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=17beta-hydroxy-5alpha-androstan-3-one + NAD(+) = 5alpha-androstan-3,17-dione + H(+) + NADH; Xref=Rhea:RHEA:41992, ChEBI:CHEBI:15378, ChEBI:CHEBI:15994, ChEBI:CHEBI:16330, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; Evidence={ECO:0000269|PubMed:12917011};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=5alpha-pregnan-20beta-ol-3-one + NAD(+) = 5alpha-pregnane-3,20-dione + H(+) + NADH; Xref=Rhea:RHEA:42008, ChEBI:CHEBI:15378, ChEBI:CHEBI:28952, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:78594; Evidence={ECO:0000269|PubMed:12917011};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=3alpha-hydroxy-5alpha-pregnan-20-one + NAD(+) = 5alpha-pregnane-3,20-dione + H(+) + NADH; Xref=Rhea:RHEA:41980, ChEBI:CHEBI:15378, ChEBI:CHEBI:28952, ChEBI:CHEBI:50169, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; Evidence={ECO:0000269|PubMed:19706438, ECO:0000269|PubMed:28888424};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=cortisone + NAD(+) = 17alpha-hydroxypregn-4-en-3,11,20-trione-21-al + H(+) + NADH; Xref=Rhea:RHEA:42016, ChEBI:CHEBI:15378, ChEBI:CHEBI:16962, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:78596; Evidence={ECO:0000269|PubMed:12917011};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=11-dehydrocorticosterone + NAD(+) = H(+) + NADH + pregn-4-ene-3,11,20,21-tetraone; Xref=Rhea:RHEA:42020, ChEBI:CHEBI:15378, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:78600, ChEBI:CHEBI:78601; Evidence={ECO:0000269|PubMed:12917011};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=cortisol + NAD(+) = 11beta,17alpha-dihydroxypregn-4-ene-3,20,21-trione + H(+) + NADH; Xref=Rhea:RHEA:42012, ChEBI:CHEBI:15378, ChEBI:CHEBI:17650, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:78595; Evidence={ECO:0000269|PubMed:12917011};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=chenodeoxycholate + NAD(+) = 7-oxolithocholate + H(+) + NADH; Xref=Rhea:RHEA:42036, ChEBI:CHEBI:15378, ChEBI:CHEBI:36234, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:78605; Evidence={ECO:0000269|PubMed:12917011};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=NAD(+) + ursodeoxycholate = 7-oxolithocholate + H(+) + NADH; Xref=Rhea:RHEA:42028, ChEBI:CHEBI:15378, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:78604, ChEBI:CHEBI:78605; Evidence={ECO:0000269|PubMed:12917011};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=3beta,7beta-dihydroxy-5beta-cholan-24-oate + NAD(+) = 3beta-hydroxy-7-oxo-5beta-cholan-24-oate + H(+) + NADH; Xref=Rhea:RHEA:42024, ChEBI:CHEBI:15378, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:78602, ChEBI:CHEBI:78603; Evidence={ECO:0000269|PubMed:12917011};.
- 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 DL-3-hydroxybutyryl-CoA {ECO:0000269|PubMed:28888424}; KM=7.7 uM for 3alpha-hydroxy-5alpha-pregnan-20-one/allopregnanolone {ECO:0000269|PubMed:28888424}; KM=30 uM for 3alpha-hydroxy-5alpha-pregnan-20-one/allopregnanolone {ECO:0000269|PubMed:19706438}; KM=140 uM for tetramyristoyl cardiolipin {ECO:0000269|PubMed:26338420}; KM=148 uM for tetralinoleoyl cardiolipin {ECO:0000269|PubMed:26338420}; KM=40 uM for oxidized tetralinoleoyl cardiolipin {ECO:0000269|PubMed:26338420}; KM=7.1 uM for (2S,3S)-3-hydroxy-2-methylbutanoyl-CoA {ECO:0000269|PubMed:19706438}; Vmax=14.8 umol/min/mg enzyme toward (2S,3S)-3-hydroxy-2-methylbutanoyl-CoA {ECO:0000269|PubMed:19706438}; Vmax=150 umol/min/mg enzyme 3alpha-hydroxy-5alpha-pregnan-20-one/allopregnanolone {ECO:0000269|PubMed:19706438}; 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};
- UniProtKB/Swiss-Prot EnzymeRegulation:
- The phospholipase C-like activity toward cardiolipin is inhibited by amyloid-beta peptide.
Enzyme Numbers (IUBMB) for HSD17B10 Gene
Phenotypes From GWAS Catalog 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 | IEA,IDA | 12917011 |
| GO:0004303 | estradiol 17-beta-dehydrogenase activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 9338779 |
Phenotypes for HSD17B10 Gene
- GenomeRNAi human phenotypes for HSD17B10:
-
- Increased vaccinia virus (VACV) infection
- Decreased viability
- shRNA abundance <= 50%
- Decreased shRNA abundance (Z-score < -2)
- no effect
- Decreased viability ratio
- Increased IL-8 secretion
- Increased shRNA abundance (Z-score > 2)
- Decreased viability in colon lineage
- Increased gamma-H2AX phosphorylation
- Cells with protrusions
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for HSD17B10 - Starting at $85 >
- * HSD17B10 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for HSD17B10
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HSD17B10
-
Santa Cruz Biotechnology (SCBT) CRISPR for HSD17B10
miRNA for HSD17B10 Gene
- miRTarBase miRNAs that target HSD17B10
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, 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
Clone products for research
- Applied Biological Materials (abm): Clones for HSD17B10 - Starting at $45 >
- * HSD17B10 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for HSD17B10
- Addgene plasmids for HSD17B10
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HSD17B10
No data available for 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. Mitochondrion matrix, mitochondrion nucleoid.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| plasma membrane | 4 |
| nucleus | 3 |
| extracellular | 2 |
| endoplasmic reticulum | 2 |
| cytosol | 2 |
| golgi apparatus | 2 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| endosome | 1 |
| lysosome | 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 | IDA,TAS | 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 | Pathways of neurodegeneration - multiple diseases | ||
| 4 | Metabolism |
.40
|
|
| 5 | Valproic acid pathway | ||
Pathways by source for HSD17B10 Gene
5 BioSystems pathways for HSD17B10 Gene
9 Reactome pathways for HSD17B10 Gene
1 PharmGKB pathway for HSD17B10 Gene
4 KEGG pathways for HSD17B10 Gene
UniProtKB/Swiss-Prot Q99714-HCD2_HUMAN
- Pathway: Amino-acid degradation; L-isoleucine degradation.
- Pathway: Lipid metabolism; fatty acid beta-oxidation.
- Pathway: Steroid metabolism.
- Pathway: Lipid metabolism; bile acid biosynthesis.
Interacting Proteins for HSD17B10 Gene
Selected Interacting proteins:
Q99714-HCD2_HUMAN
ENSP00000168216
for HSD17B10 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for HSD17B10
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006550 | isoleucine catabolic process | IEA | -- |
| GO:0006629 | lipid metabolic process | TAS | 9338779 |
| GO:0006631 | fatty acid metabolic process | IEA | -- |
| GO:0006635 | fatty acid beta-oxidation | IEA | -- |
| GO:0006699 | bile acid biosynthetic process | IEA | -- |
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 | 0 | ||
| Stiripentol | Approved | Pharma | An LDH inhibitor | 11 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 2-methyl-3-hydroxybutyryl-coa |
|
1169932-06-2 | ||||
| (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
- 2 REFSEQ mRNAs :
- 13 NCBI additional mRNA sequence :
- 5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000168216 954 nts (view in UCSC)
- ENST00000375298 823 nts (view in UCSC)
- ENST00000375304 916 nts (view in UCSC)
- ENST00000477706 556 nts (view in UCSC)
- ENST00000495986 666 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for HSD17B10 - Starting at $85 >
- * HSD17B10 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for HSD17B10
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HSD17B10
-
Santa Cruz Biotechnology (SCBT) CRISPR for HSD17B10
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, 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
Clone products for research
- Applied Biological Materials (abm): Clones for HSD17B10 - Starting at $45 >
- * HSD17B10 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for HSD17B10
- Addgene plasmids for HSD17B10
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HSD17B10
| 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
Expression for HSD17B10 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
- Kidney (Urinary System)
- Bone (Muscoskeletal System)
- Thymus (Hematopoietic System)
- Eye (Sensory Organs)
-
Thyroid (Endocrine System)
-
Adrenal Gland (Endocrine System)
-
Esophagus (Gastrointestinal Tract)
-
Liver (Hepatobiliary System)
-
Adipose (Muscoskeletal System)
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HSD17B10 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HSD17B10
SOURCE 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(4.7)
- Liver(4.6)
- Lung(4.4)
- Heart(2.7)
- Skin(2.7)
- Muscle(2.6)
- Kidney(2.5)
- Adrenal gland(2.4)
- Thyroid gland(2.3)
- Intestine(2.3)
- Blood(2.2)
- Stomach(2)
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 for research
-
OriGene qPCR primer pairs for HSD17B10
-
OriGene qPCR primer pairs and template standards for HSD17B10
Gene Expression Assays for research
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 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | HSD17B10 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | HSD17B10 29 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Hsd17b10 29 |
|
||
| Mouse (Mus musculus) |
Mammalia | Hsd17b10 29 16 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | HSD17B10 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | HSD17B10 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | -- 30 |
|
OneToMany | |
| -- 30 |
|
OneToMany | |||
| Lizard (Anolis carolinensis) |
Reptilia | HSD17B10 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | hsd17b10 29 |
|
||
| Str.8711 29 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.7710 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | hsd17b10 29 30 |
|
OneToOne | |
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9437 29 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | scu 29 30 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003414 29 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | ard-1 29 30 |
|
OneToOne | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.827 30 |
|
OneToOne | |
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU11196 29 |
|
||
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.3465 29 |
|
- Species where no ortholog for HSD17B10 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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
- Alliance of Genome Resources:
- Additional Orthologs for HSD17B10
Paralogs for HSD17B10 Gene
Paralogs for HSD17B10 Gene
(3) SIMAP similar genes for HSD17B10 Gene using alignment to 2 proteins:
- HCD2_HUMAN
- Q5H928_HUMAN
Variants for HSD17B10 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HSD17B10 Gene
| SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 1013069 | Likely Benign: not provided | 53,432,290(-) |
T/G NM_004493.3(HSD17B10):c.314A>C (p.Lys105Thr) |
MISSENSE | |
| 1021779 | Uncertain Significance: not provided | 53,432,320(-) |
G/A NM_004493.3(HSD17B10):c.284C>T (p.Ala95Val) |
MISSENSE | |
| 1028767 | Uncertain Significance: HSD10 disease | 53,434,332(-) |
C/T NM_004493.3(HSD17B10):c.14G>A (p.Cys5Tyr) |
MISSENSE | |
| 1028768 | Likely Pathogenic: HSD10 disease | 53,433,829(-) |
G/C NM_004493.3(HSD17B10):c.85C>G (p.Arg29Gly) |
MISSENSE | |
| 949420 | Uncertain Significance: not provided | 53,432,311(-) |
C/A NM_004493.3(HSD17B10):c.293G>T (p.Ser98Ile) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
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 Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSD17B10 Gene
Disorders for HSD17B10 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hsd10 mitochondrial disease |
|
|
| alpha-methylacetoacetic aciduria |
|
|
| alzheimer disease |
|
|
| syndromic x-linked intellectual disability type 10 |
|
|
| 2-methylbutyryl-coa dehydrogenase deficiency |
|
|
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:26338420, ECO:0000269 PubMed:26950678, ECO:0000269 PubMed:28888424}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for HSD17B10
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
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
- 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene. (PMID: 12696021) Ofman R … Wanders RJ (American journal of human genetics 2003) 3 4 22 72
- 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
- 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
- Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis. (PMID: 18996107) García-Villoria J … Ribes A (Clinical biochemistry 2009) 3 4 22
ExternalLinks
Products for HSD17B10 Gene
- 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 shrna, sirna, and RNAi products in human, mouse, rat for HSD17B10
- Browse OriGene Inhibitory RNA Products For HSD17B10
- OriGene qPCR primer pairs for HSD17B10
- OriGene qPCR primer pairs and template standards for HSD17B10
- OriGene CRISPR knockouts for HSD17B10
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For HSD17B10
- Sino Biological Human cDNA Clone for HSD17B10
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for HSD17B10
- Novus Biologicals proteins and lysates for HSD17B10
- Novus Biologicals ELISA Kits for HSD17B10
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for HSD17B10
- Abcam proteins for HSD17B10
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- ApexBio compounds for HSD17B10
- VectorBuilder Custom and pre-made DNA vectors for HSD17B10 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for HSD17B10 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for HSD17B10 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for HSD17B10 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for HSD17B10
- Addgene plasmids for HSD17B10
- antibodies-online: Show 38 available HSD17B10 Antibodies ranked by validation data
- Compare Top HSD17B10 Antibodies
- antibodies-online: Show 19 available HSD17B10 Elisa Kits ranked by validation data
- Compare Top HSD17B10 Elisa Kits
- Quality Products:
- antibodies-online: Show 21 available HSD17B10 Proteins ranked by validation data
- Compare Top HSD17B10 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for HSD17B10
- Search Santa Cruz Biotechnology (SCBT) for HSD17B10 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for HSD17B10
- 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
- Search GeneCopoeia for 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) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) ASD
- (27) SAGE
- (28) SOURCE
- (29) HomoloGene
- (30) PanEnsembl
- (31) euGenes
- (32) SGD
- (33) FlyBase
- (34) WormBase
- (35) Pseudogene
- (36) DGV
- (37) dbSNP
- (38) GenAtlas
- (39) HGMD
- (40) GAD
- (41) BGMUT
- (42) HuGE
- (43) Atlas
- (44) GenBank
- (45) HORDE
- (46) HUGE
- (47) IMGT
- (48) Leiden
- (49) miRBase
- (50) DME
- (51) OriGene
- (52) PubMed
- (53) R&D Systems
- (54) Tocris
- (55) Abcam
- (56) Novus Biologicals
- (57) ProSpec
- (58) Sino Biological
- (59) GenScript
- (60) Qiagen
- (61) OCA
- (62) Proteopedia
- (63) MOPED
- (64) neXtProt
- (65) Reactome
- (66) GeneGo (Thomson Reuters)
- (67) DISEASES
- (68) SIMAP
- (69) GenomeRNAi
- (70) LifeMap
- (71) miRTarBase
- (72) MalaCards
- (73) Invitrogen
- (74) BitterDB
- (75) ESI-BIO
- (76) RefSeq
- (77) BioSystems
- (78) MaxQB
- (79) IUPHAR
- (80) BioGPS
- (81) Illumina
- (82) COMPARTMENTS
- (83) HOMER
- (84) PaxDb
- (85) ApexBio
- (86) Addgene
- (87) antibodies-online
- (88) CYP
- (89) NONCODE
- (90) TreeFam
- (91) PathCards
- (92) GeneReviews
- (93) GeneTex
- (94) Taconic Biosciences
- (95) GTEx
- (96) ProteomicsDB
- (97) SCBT
- (98) DGIdb
- (99) ClinicalTrials
- (100) RVIS
- (101) SIGNOR
- (102) diseasecard
- (103) NIH Rare Diseases
- (104) Orphanet
- (105) UMLS
- (106) GTR
- (107) Disease Ontology
- (108) MedlinePlus Genetics
- (109) MeSH
- (110) MedlinePlus
- (111) CDC
- (112) NINDS
- (113) NCBI Bookshelf
- (114) ClinVar
- (115) Gene Damage Index
- (116) HPO
- (117) UDN
- (118) VISTA
- (119) FANTOM5
- (120) ENCODE
- (121) ProSci
- (122) Horizon
- (123) The Signaling Pathways Project (SPP)
- (124) IID
- (125) VectorBuilder
- (126) SNPedia
- (127) BRCA Exchange
- (128) CIViC
- (129) ProteoGenix
- (130) dbSUPER
- (131) TISSUES
- (132) Gene ORGANizer
- (133) abm
- (134) Human Protein Atlas
- (135) GWAS Catalog
- (136) Monarch Initiative
- (137) DataMed
- (138) HumanCyc
- (139) UCNEbase
- (140) EPDnew
- (141) Applied Biosystems
- (142) GlyConnect
- (143) Aminode
- (144) GeneCopoeia
- (145) GPS-Prot
- (146) RNAcentral
- (147) LncRNADisease
- (148) LOVD
- (149) miR2Disease
- (150) DiseaseEnhancer
- (151) Boster Bio
- (152) Biorbyt
- (153) Biocompare
- (154) Mastermind
- (155) CTD^2 Dashboard
- (156) CraniofacialAtlas
- (157) GeneImprint
- (158) Synthego
- (159) ENA
- (160) GtRNAdb
- (161) LncBase
- (162) LncBook
- (163) LNCipedia
- (164) Modomics
- (165) PDBe
- (166) Rfam
- (167) SILVA
- (168) snOPY
- (169) SRPDB
- (170) GENCODE
- (171) TarBase
- (172) Open Targets Platform
- (173) 5SRRNADB
- (174) snoDB
- (175) MirGeneDB
- (176) Alliance of Genome Resources