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17-beta-hydroxysteroid dehydrogenases, such as HSD17B14, are primarily involved in metabolism of steroids at the C17 position and also of other substrates, such as fatty acids, prostaglandins, and xenobiotics (Lukacik et al., 2007 [PubMed 17067289]).[supplied by OMIM, Jun 2009] See more...
Aliases for HSD17B14 Gene
Aliases for HSD17B14 Gene
- Hydroxysteroid 17-Beta Dehydrogenase 14 2 3 5
- SDR47C1 2 3 4
- Short Chain Dehydrogenase/Reductase Family 47C Member 1 3 4
- Retinal Short-Chain Dehydrogenase/Reductase RetSDR3 3 4
- Dehydrogenase/Reductase (SDR Family) Member 10 2 3
- Retinal Short-Chain Dehydrogenase/Reductase 3 2 3
- 17-Beta-Hydroxysteroid Dehydrogenase DHRS10 3 4
- 17-Beta-Hydroxysteroid Dehydrogenase 14 3 4
- 17-Beta-HSD 14 3 4
External Ids for HSD17B14 Gene
- HGNC: 23238
- Entrez Gene: 51171
- Ensembl: ENSG00000087076
- OMIM: 612832
- UniProtKB: Q9BPX1
Previous HGNC Symbols for HSD17B14 Gene
- DHRS10
Previous GeneCards Identifiers for HSD17B14 Gene
- GC19M054009
- GC19M049316
- GC19M045695
Summaries for HSD17B14 Gene
-
17-beta-hydroxysteroid dehydrogenases, such as HSD17B14, are primarily involved in metabolism of steroids at the C17 position and also of other substrates, such as fatty acids, prostaglandins, and xenobiotics (Lukacik et al., 2007 [PubMed 17067289]).[supplied by OMIM, Jun 2009]
GeneCards Summary for HSD17B14 Gene
HSD17B14 (Hydroxysteroid 17-Beta Dehydrogenase 14) is a Protein Coding gene. Diseases associated with HSD17B14 include Japanese Spotted Fever. Among its related pathways are Metabolism of steroid hormones and Metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and estradiol 17-beta-dehydrogenase activity. An important paralog of this gene is SDR9C7.
UniProtKB/Swiss-Prot Summary for HSD17B14 Gene
-
Has NAD-dependent 17-beta-hydroxysteroid dehydrogenase activity. Converts oestradiol to oestrone. The physiological substrate is not known. Acts on oestradiol and 5-androstene-3-beta,17-beta-diol (in vitro).
Additional gene information for HSD17B14 Gene
- HGNC(23238)
- Entrez Gene(51171)
- Ensembl(ENSG00000087076)
- OMIM(612832)
- UniProtKB(Q9BPX1)
- Open Targets Platform(ENSG00000087076)
- Search for HSD17B14 at DataMed
- Search for HSD17B14 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HSD17B14 Gene
Genomics for HSD17B14 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for HSD17B14 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 HSD17B14 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HSD17B14
- Top Transcription factor binding sites by QIAGEN in the HSD17B14 gene promoter:
-
- AP-4
- c-Myc
- GR
- GR-alpha
- GR-beta
- Lmo2
- Max
- RP58
Genomic Locations for HSD17B14 Gene
Genomic Locations for HSD17B14 Gene
- chr19:48,813,014-48,836,688
- (GRCh38/hg38)
- Size:
- 23,675 bases
- Orientation:
- Minus strand
- chr19:49,316,274-49,339,935
- (GRCh37/hg19)
- Size:
- 23,662 bases
- Orientation:
- Minus strand
Genomic View for HSD17B14 Gene
Genes around HSD17B14 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19q13.33 by HGNC
- 19q13.33 by Entrez Gene
- 19q13.33 by Ensembl
HSD17B14 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 HSD17B14 Gene
Proteins for HSD17B14 Gene
-
Protein details for HSD17B14 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9BPX1-DHB14_HUMAN
- Recommended name:
- 17-beta-hydroxysteroid dehydrogenase 14
- Protein Accession:
- Q9BPX1
- Q9UKU3
Protein attributes for HSD17B14 Gene
- Size:
- 270 amino acids
- Molecular mass:
- 28317 Da
- Quaternary structure:
-
- Homotetramer.
Protein Expression for HSD17B14 Gene
Post-translational modifications for HSD17B14 Gene
Other Protein References for HSD17B14 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ DHB14 Polyclonal Antibody and Immunotag™ DHRS10 Antibody
- Novus Biologicals Antibodies for HSD17B14
-
Abcam antibodies for HSD17B14
- Invitrogen Antibodies for HSD17B14 (AFLGC-HSD17B14)
-
Boster Bio Antibodies for HSD17B14
- Sino Biological Antibodies for HSD17B14
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for HSD17B14
- Origene Custom Protein Services for HSD17B14
- Sino Biological Recombinant Proteins for HSD17B14
- Sino Biological Cell Lysates for HSD17B14
- ProSpec Recombinant Proteins for HSD17B14
- antibodies-online: Show 9 available HSD17B14 Proteins ranked by validation data
- Compare Top HSD17B14 Proteins
-
Quality Products:
-
Abcam proteins for HSD17B14
No data available for DME Specific Peptides for HSD17B14 Gene
Domains & Families for HSD17B14 Gene
Gene Families for HSD17B14 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for HSD17B14 Gene
- InterPro:
- Blocks:
-
- Short-chain dehydrogenase/reductase SDR
- Glucose/ribitol dehydrogenase family signature
- ProtoNet:
Suggested Antigen Peptide Sequences for HSD17B14 Gene
- GenScript: Design optimal peptide antigens:
-
- Retinal short-chain dehydrogenase/reductase retSDR3 (DHB14_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9BPX1UniProtKB/Swiss-Prot:
DHB14_HUMAN :- Belongs to the short-chain dehydrogenases/reductases (SDR) family.
- Family:
-
- Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Function for HSD17B14 Gene
Molecular function for HSD17B14 Gene
- UniProtKB/Swiss-Prot Function:
- Has NAD-dependent 17-beta-hydroxysteroid dehydrogenase activity. Converts oestradiol to oestrone. The physiological substrate is not known. Acts on oestradiol and 5-androstene-3-beta,17-beta-diol (in vitro).
Enzyme Numbers (IUBMB) for HSD17B14 Gene
Phenotypes From GWAS Catalog for HSD17B14 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004303 | estradiol 17-beta-dehydrogenase activity | IDA | 17067289 |
| GO:0005515 | protein binding | IPI | 16189514 |
| GO:0016491 | oxidoreductase activity | IEA | -- |
| GO:0042802 | identical protein binding | IPI | 16189514 |
| GO:0047045 | testosterone 17-beta-dehydrogenase (NADP+) activity | IDA | 17067289 |
Phenotypes for HSD17B14 Gene
- MGI mutant phenotypes for HSD17B14:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for HSD17B14:
-
- no effect
- Resistant to vaccinia virus (VACV-A4L) infection
- shRNA abundance <= 50%
- Decreased viability ratio
- Increased IL-8 secretion
- Increased NF-kappaB reporter expression
- Increased HPV18 LCR reporter activity
- Upregulation of Wnt pathway
- Decreased shRNA abundance
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Decreased viability in esophageal squamous lineage; decreased viability in glioblastoma multiforme (GBM) lineage
- Increased Dengue infection
- Increased infection with West Nile virus (WNV)
- Increased West Nile virus (WNV) infection
Animal Models for HSD17B14 Gene
- MGI Knock Outs for HSD17B14:
-
- Hsd17b14 Hsd17b14<tm1Lex>
Animal Model Products
-
Taconic Biosciences Mouse Models for HSD17B14
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for HSD17B14 - Select products 50% OFF >
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-
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-
Santa Cruz Biotechnology (SCBT) CRISPR for HSD17B14
miRNA for HSD17B14 Gene
- miRTarBase miRNAs that target HSD17B14
miRNA Products
Inhibitory RNA Products
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Clone Products
- Applied Biological Materials (abm): Clones for HSD17B14 - Select products 50% OFF >
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- Sino Biological Human cDNA Clone for HSD17B14
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- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HSD17B14
Cell Line Products
-
Horizon Cell Lines for HSD17B14
No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HSD17B14 Gene
Localization for HSD17B14 Gene
Subcellular locations from UniProtKB/Swiss-Prot for HSD17B14 Gene
- Cytoplasm.
| Compartment | Confidence |
|---|---|
| cytosol | 4 |
| mitochondrion | 3 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | IDA,TAS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for HSD17B14 Gene
Pathways & Interactions for HSD17B14 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism of steroid hormones | ||
| 2 | Metabolism |
.40
|
|
Pathways by source for HSD17B14 Gene
4 Reactome pathways for HSD17B14 Gene
Interacting Proteins for HSD17B14 Gene
Selected Interacting proteins:
Q9BPX1-DHB14_HUMAN
ENSP00000263278
for HSD17B14 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for HSD17B14
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006629 | lipid metabolic process | IEA | -- |
| GO:0006703 | estrogen biosynthetic process | TAS | -- |
| GO:0006706 | steroid catabolic process | IDA | 17067289 |
| GO:0008202 | steroid metabolic process | IEA | -- |
| GO:0055114 | oxidation-reduction process | IEA | -- |
No data available for SIGNOR curated interactions for HSD17B14 Gene
Drugs & Compounds for HSD17B14 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| NAD | Experimental | Pharma | Agonist, Full agonist, Activator | 0 |
Transcripts for HSD17B14 Gene
mRNA/cDNA for HSD17B14 Gene
- 1 REFSEQ mRNAs :
- 7 NCBI additional mRNA sequence :
- 4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000263278 1050 nts (view in UCSC)
- ENST00000595764 674 nts (view in UCSC)
- ENST00000596349 555 nts (view in UCSC)
- ENST00000599157 991 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for HSD17B14 - Select products 50% OFF >
- * HSD17B14 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for HSD17B14
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HSD17B14
-
Santa Cruz Biotechnology (SCBT) CRISPR for HSD17B14
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HSD17B14
- Browse OriGene Inhibitory RNA Products For HSD17B14
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Clone Products
- Applied Biological Materials (abm): Clones for HSD17B14 - Select products 50% OFF >
- * HSD17B14 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for HSD17B14
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| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | · | 8c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||
| SP4: | - | - | - | ||||||||||||||||||||
| SP5: | - | - |
Relevant External Links for HSD17B14 Gene
- GeneLoc Exon Structure for
- HSD17B14
Expression for HSD17B14 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Kidney (Urinary System)
This gene is overexpressed in Gallbladder (36.1) and Colon muscle (18.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HSD17B14 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HSD17B14
SOURCE GeneReport for Unigene cluster for HSD17B14 Gene:
Hs.18788mRNA Expression by UniProt/SwissProt for HSD17B14 Gene:
Q9BPX1-DHB14_HUMAN
Tissue specificity:
Highly expressed in brain, placenta, liver and kidney.
Evidence on tissue expression from TISSUES for HSD17B14 Gene
- Skin(4.3)
- Eye(4.2)
- Kidney(2.5)
- Nervous system(2.4)
- Liver(2.2)
Primer Products
-
OriGene qPCR primer pairs for HSD17B14
-
OriGene qPCR primer pairs and template standards for HSD17B14
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for HSD17B14 Gene
Orthologs for HSD17B14 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | HSD17B14 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | HSD17B14 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | HSD17B14 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Hsd17b14 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Hsd17b14 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | HSD17B14 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | HSD17B14 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100498205 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.32139 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | hsd17b14 30 31 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011852 30 |
|
||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT3G51680 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os07g0691600 30 |
|
- Species where no ortholog for HSD17B14 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)
- Bread mold (Neurospora crassa)
- 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)
- Fruit Fly (Drosophila melanogaster)
- 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)
- Oppossum (Monodelphis domestica)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for HSD17B14 Gene
- ENSEMBL:
- Gene Tree for HSD17B14 (if available)
- TreeFam:
- Gene Tree for HSD17B14 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for HSD17B14: view image
Paralogs for HSD17B14 Gene
Paralogs for HSD17B14 Gene
(7) SIMAP similar genes for HSD17B14 Gene using alignment to 4 proteins:
- DHB14_HUMAN
- M0QY35_HUMAN
- M0R147_HUMAN
- M0R2R3_HUMAN
Variants for HSD17B14 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HSD17B14 Gene
| SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1400589983 | Uncertain Significance: Severe Myopia | 48,813,288(-) | C/T | MISSENSE_VARIANT | |
| rs35299026 | - | p.Arg130Trp | |||
| rs8110220 | - | p.Asn31Asp |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv2019e59 | CNV | duplication | 20981092 |
| dgv226e215 | CNV | deletion | 23714750 |
| esv1431206 | CNV | insertion | 17803354 |
| esv2431202 | CNV | deletion | 19546169 |
| esv2718691 | CNV | deletion | 23290073 |
| esv2718692 | CNV | deletion | 23290073 |
| esv6750 | CNV | loss | 19470904 |
| nsv1141336 | CNV | duplication | 24896259 |
| nsv833855 | CNV | loss | 17160897 |
| nsv9739 | CNV | gain+loss | 18304495 |
Residual Variation Intolerance Score:
95.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
6.82;
79.22% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for HSD17B14 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- HSD17B14
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSD17B14 Gene
Disorders for HSD17B14 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| japanese spotted fever |
|
|
Search HSD17B14 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for HSD17B14
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for HSD17B14 Gene
Publications for HSD17B14 Gene
- Structural and biochemical characterization of human orphan DHRS10 reveals a novel cytosolic enzyme with steroid dehydrogenase activity. (PMID: 17067289) Lukacik P … Oppermann U (The Biochemical journal 2007) 2 3 4
- Short-chain dehydrogenases/reductases in retina. (PMID: 10800688) Haeseleer F … Palczewski K (Methods in enzymology 2000) 2 3 4
- The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B … Oppermann U (Chemico-biological interactions 2009) 2 3
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
- The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4
ExternalLinks
Products for HSD17B14 Gene
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Sources for HSD17B14 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
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