Aliases for HSD17B14 Gene
Aliases for HSD17B14 Gene
- Hydroxysteroid 17-Beta Dehydrogenase 14 2 3 5
- 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
- SDR47C1 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 Tumoral Calcinosis, Hyperphosphatemic, Familial, 1. 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 HSD17B10.
UniProtKB/Swiss-Prot 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
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HSD17B14 Gene
Genomics for HSD17B14 Gene
GeneHancer (GH) Regulatory Elements for HSD17B14 Gene
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 UCSC Golden Path with GeneCards custom track
- 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
- chr19:48,813,017-48,836,703
- (GRCh38/hg38)
- Size:
- 23,687 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
- Atlas Antibodies Anti-HSD17B14 Antibody
- Novus Biologicals Antibodies for HSD17B14
-
Abcam antibodies for HSD17B14
- Invitrogen Antibodies for HSD17B14 (AFLGC-HSD17B14)
-
Biorbyt antibodies for HSD17B14
- Sino Biological Antibodies for HSD17B14
Protein Products
- Atlas Antibodies PrEST Antigen HSD17B14
-
OriGene Purified Proteins for HSD17B14
- Search Origene for MassSpec and Protein Over-expression Lysates for HSD17B14
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- Sino Biological Recombinant Proteins for HSD17B14
- Sino Biological Cell Lysates for HSD17B14
- ProSpec Recombinant Proteins for HSD17B14
-
Abcam proteins for HSD17B14
Assay Products
- RayBiotech Custom Human HSD17B14 ELISA
- Aviva Systems Biology HSD17b14 ELISA Kit (Human) (OKDD00318) and HSD17B14 ELISA Kit (Human) (OKCD00457)
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
- Blocks:
- InterPro:
- 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:
-
- Increased HPV18 LCR reporter activity
- Decreased viability ratio
- Increased shRNA abundance (Z-score > 2)
- Decreased viability in esophageal squamous lineage
- Upregulation of Wnt pathway
- Decreased viability
- no effect
- Resistant to vaccinia virus (VACV-A4L) infection
- Decreased shRNA abundance (Z-score < -2)
- Decreased Dengue Infection
- Decreased infection with West Nile virus (WNV)
- Decreased West Nile virus (WNV) infection
- Decreased NF-kappaB reporter expression
- shRNA abundance <= 50%
- Decreased IL-8 secretion
- Decreased shRNA abundance
Animal Models for HSD17B14 Gene
- MGI Knock Outs for HSD17B14:
-
- Hsd17b14 Hsd17b14<tm1Lex>
Animal Model Products
-
Taconic Biosciences Mouse Models for HSD17B14
- Cyagen custom Knockout/knockin (KOKI) mouse models for HSD17B14
-
CRISPR Products
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-
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- Overview of 98 available HSD17B14 gene related products
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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
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- Sino Biological Human cDNA Clone for HSD17B14
- Addgene plasmids for HSD17B14
- 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 | 2 |
| 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:
ENSP00000263278
Q9BPX1-DHB14_HUMAN
for HSD17B14 Gene via
STRING
UniProtKB
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 | Full agonist, Agonist, Activator | 0 |
Drug Products
- Atlas Antibodies PrEST Antigen HSD17B14
Transcripts for HSD17B14 Gene
mRNA/cDNA for HSD17B14 Gene
- (1) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (124) Selected AceView cDNA sequences:
- (4) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000263278 1050 bps (ENST00000263278.8)
- ENST00000596349 555 bps (ENST00000596349.5)
- ENST00000599157 991 bps (ENST00000599157.5)
- ENST00000595764 674 bps (ENST00000595764.1)
Unigene Clusters for HSD17B14 Gene
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for HSD17B14 - Now 50% OFF >
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-
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- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HSD17B14
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- Overview of 98 available HSD17B14 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for HSD17B14
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for HSD17B14
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Clone Products
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- Sino Biological Human cDNA Clone for HSD17B14
- Addgene plasmids for HSD17B14
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HSD17B14
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | · | 8c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||
| SP4: | - | - | - | ||||||||||||||||||||
| SP5: | - | - |
Expression for HSD17B14 Gene
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
NURSA nuclear receptor signaling pathways regulating expression of HSD17B14 Gene:
HSD17B14SOURCE 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
- Eye(4.1)
- Skin(4.1)
- Kidney(2.1)
Primer Products
-
OriGene qPCR primer pairs for HSD17B14
-
OriGene qPCR primer pairs and template standards for HSD17B14
- genomics-online: primer clones - Search results for 98 available HSD17B14 gene related products
- Overview of 98 available HSD17B14 gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 35 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | HSD17B14 35 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | HSD17B14 35 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Hsd17b14 17 35 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Hsd17b14 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | HSD17B14 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | HSD17B14 35 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | -- 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100498205 34 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.32139 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | hsd17b14 35 34 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011852 34 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | AT3G51680 34 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os07g0691600 34 |
|
- Species where no ortholog for HSD17B14 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)
- 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 squirt (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
| SNP ID | Clin | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000041482 | -- | 48,817,233(-) | A/G | intron_variant | |
| rs1000051435 | -- | 48,821,165(-) | A/T | intron_variant | |
| rs1000109350 | -- | 48,828,197(-) | C/T | intron_variant | |
| rs1000413451 | -- | 48,827,262(-) | C/T | intron_variant | |
| rs1000431597 | -- | 48,823,034(-) | G/A | intron_variant |
| 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 |
|---|---|---|
| tumoral calcinosis, hyperphosphatemic, familial, 1 |
|
|
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
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 58
- Short-chain dehydrogenases/reductases in retina. (PMID: 10800688) Haeseleer F … Palczewski K (Methods in enzymology 2000) 2 3 4 58
- The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B … Oppermann U (Chemico-biological interactions 2009) 2 3 58
- 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 58
- 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 58
ExternalLinks
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Sources for HSD17B14 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
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