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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-HSD 14 3 4
  • SDR47C1 3 4
  • DHRS10 3 4
  • Short Chain Dehydrogenase/Reductase Family 47C, Member 1 2
  • Dehydrogenase/Reductase SDR Family Member 10 4
  • Hydroxysteroid (17-Beta) Dehydrogenase 14 2
  • 17-Beta-Hydroxysteroid Dehydrogenase 14 3
  • Testicular Tissue Protein Li 52 3
  • EC 1.1.1.- 4
  • RetSDR3 3
  • SDR3 4

External Ids for HSD17B14 Gene

Previous HGNC Symbols for HSD17B14 Gene

  • DHRS10

Previous GeneCards Identifiers for HSD17B14 Gene

  • GC19M054009
  • GC19M049316
  • GC19M045695

Summaries for HSD17B14 Gene

Entrez Gene Summary 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. 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
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J048835 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 682 +0.0 5 2.8 HDGF PKNOX1 ARNT ARID4B SIN3A ZNF2 IRF4 YY1 ZNF766 CBX5 HSD17B14 GC19P048839 GC19P048838 BCAT2 PLEKHA4
GH19J048871 Promoter/Enhancer 2.6 EPDnew Ensembl ENCODE dbSUPER 17.7 -39.3 -39312 8.8 FEZF1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 MEF2D SSRP1 GC19M048876 PPP1R15A PRR12 SNRNP70 IRF3 GRWD1 SNORD35A PTOV1-AS2 SNORD35B PIH1D1
GH19J048866 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 19 -31.4 -31387 3 HDGF PKNOX1 ARNT ZFP64 NEUROD1 FEZF1 YBX1 ZNF2 YY1 POLR2B PLEKHA4 PRR12 GRWD1 PIH1D1 SNRNP70 PTOV1-AS2 SNORD35A KDELR1 IRF3 SNORD35B
GH19J048958 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.3 -127.3 -127326 10.2 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF263 FTL ENSG00000267898 GC19P048966 GC19P048967 NUP62 PTOV1-AS2 IRF3 SNORD35A SNORD35B PRR12
GH19J048809 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 12.6 +24.8 24792 4.2 HDGF PKNOX1 ARID4B SIN3A FEZF1 ZNF2 ZBTB7B YY1 POLR2B E2F8 BCAT2 PRR12 SNRNP70 SNORD35A PIH1D1 HSD17B14 IRF3 IZUMO1 RASIP1 NUCB1
- 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:
  • Lmo2
  • AP-4
  • Max
  • c-Myc
  • GR
  • GR-alpha
  • GR-beta
  • 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:
HSD17B14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HSD17B14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • Q9UKU3

    Protein attributes for HSD17B14 Gene

    Size:
    270 amino acids
    Molecular mass:
    28317 Da
    Quaternary structure:
    • Homotetramer.

    Three dimensional structures from OCA and Proteopedia for HSD17B14 Gene

neXtProt entry for HSD17B14 Gene

Post-translational modifications for HSD17B14 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HSD17B14 Gene

Antibody Products

  • R&D Systems Antibodies for HSD17B14 (17 beta-HSD14/HSD17B14)
  • Boster Bio Antibodies for HSD17B14

No data available for DME Specific Peptides for HSD17B14 Gene

Domains & Families for HSD17B14 Gene

Gene Families for HSD17B14 Gene

Suggested Antigen Peptide Sequences for HSD17B14 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BPX1

UniProtKB/Swiss-Prot:

DHB14_HUMAN :
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Family:
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
genes like me logo Genes that share domains with HSD17B14: view

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

Gene Ontology (GO) - Molecular Function for HSD17B14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004303 estradiol 17-beta-dehydrogenase activity TAS --
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
genes like me logo Genes that share ontologies with HSD17B14: view
genes like me logo Genes that share phenotypes with HSD17B14: view

Animal Models for HSD17B14 Gene

MGI Knock Outs for HSD17B14:

Animal Model Products

  • Taconic Biosciences Mouse Models for HSD17B14

miRNA for HSD17B14 Gene

miRTarBase miRNAs that target HSD17B14

Clone Products

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HSD17B14 gene
Compartment Confidence
cytosol 4
mitochondrion 2

Gene Ontology (GO) - Cellular Components for HSD17B14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS,IDA --
genes like me logo Genes that share ontologies with HSD17B14: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HSD17B14 Gene

Pathways & Interactions for HSD17B14 Gene

genes like me logo Genes that share pathways with HSD17B14: view

Pathways by source for HSD17B14 Gene

Gene Ontology (GO) - Biological Process for HSD17B14 Gene

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 --
genes like me logo Genes that share ontologies with HSD17B14: view

No data available for SIGNOR curated interactions for HSD17B14 Gene

Drugs & Compounds for HSD17B14 Gene

(1) Drugs for HSD17B14 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NAD Pharma Full agonist, Agonist, Activator 0
genes like me logo Genes that share compounds with HSD17B14: view

Transcripts for HSD17B14 Gene

mRNA/cDNA for HSD17B14 Gene

Unigene Clusters for HSD17B14 Gene

Hydroxysteroid (17-beta) dehydrogenase 14:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HSD17B14 Gene

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
ECgene alternative splicing isoforms for
HSD17B14

Expression for HSD17B14 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HSD17B14 Gene

Protein differential expression in normal tissues from HIPED 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:

HSD17B14

SOURCE GeneReport for Unigene cluster for HSD17B14 Gene:

Hs.18788

mRNA 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)
genes like me logo Genes that share expression patterns with HSD17B14: view

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.

Orthologs for HSD17B14 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HSD17B14 34 33
  • 98.25 (n)
OneToOne
dog
(Canis familiaris)
Mammalia HSD17B14 34 33
  • 86.42 (n)
OneToOne
cow
(Bos Taurus)
Mammalia HSD17B14 34 33
  • 85.56 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Hsd17b14 16 34 33
  • 82.9 (n)
rat
(Rattus norvegicus)
Mammalia Hsd17b14 33
  • 82.28 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HSD17B14 34
  • 44 (a)
OneToOne
chicken
(Gallus gallus)
Aves HSD17B14 34
  • 13 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 55 (a)
OneToMany
-- 34
  • 54 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498205 33
  • 60.23 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.32139 33
zebrafish
(Danio rerio)
Actinopterygii hsd17b14 34 33
  • 58.76 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011852 33
  • 48.78 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G51680 33
  • 43.48 (n)
rice
(Oryza sativa)
Liliopsida Os07g0691600 33
  • 51.17 (n)
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
genes like me logo Genes that share paralogs with HSD17B14: view

Variants for HSD17B14 Gene

Sequence variations from dbSNP and Humsavar 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

Structural Variations from Database of Genomic Variants (DGV) for HSD17B14 Gene

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

Variation tolerance for HSD17B14 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSD17B14 Gene

Disorders for HSD17B14 Gene

Additional Disease Information for HSD17B14

No disorders were found for HSD17B14 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HSD17B14 Gene

Publications for HSD17B14 Gene

  1. 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
  2. Short-chain dehydrogenases/reductases in retina. (PMID: 10800688) Haeseleer F … Palczewski K (Methods in enzymology 2000) 2 3 4 58
  3. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B … Oppermann U (Chemico-biological interactions 2009) 2 3 58
  4. 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
  5. 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

Products for HSD17B14 Gene

Sources for HSD17B14 Gene

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