HSD17B7 encodes an enzyme that functions both as a 17-beta-hydroxysteroid dehydrogenase (EC in the biosynthesis of sex steroids and as a 3-ketosteroid reductase (EC in the biosynthesis of cholesterol (Marijanovic et al., 2003 [PubMed 12829805]).[supplied by OMIM, May 2010] See more...

Aliases for HSD17B7 Gene

Aliases for HSD17B7 Gene

  • Hydroxysteroid 17-Beta Dehydrogenase 7 2 3 5
  • Short Chain Dehydrogenase/Reductase Family 37C Member 1 3 4
  • 17-Beta-Hydroxysteroid Dehydrogenase 7 3 4
  • Estradiol 17-Beta-Dehydrogenase 7 3 4
  • 3-Keto-Steroid Reductase 3 4
  • 17-Beta-HSD 7 3 4
  • SDR37C1 3 4
  • Short Chain Dehydrogenase/Reductase Family 37C, Member 1 2
  • 17 Beta-Hydroxysteroid Dehydrogenase Type VII 3
  • Hydroxysteroid (17-Beta) Dehydrogenase 7 2
  • 17beta Hydroxysteroid Dehydrogenase 3
  • EC 4
  • EC 4
  • PRAP 3

External Ids for HSD17B7 Gene

Previous GeneCards Identifiers for HSD17B7 Gene

  • GC01P160395
  • GC01P158411
  • GC01P159456
  • GC01P159947
  • GC01P159492
  • GC01P161027
  • GC01P162760
  • GC01P134005

Summaries for HSD17B7 Gene

Entrez Gene Summary for HSD17B7 Gene

  • HSD17B7 encodes an enzyme that functions both as a 17-beta-hydroxysteroid dehydrogenase (EC in the biosynthesis of sex steroids and as a 3-ketosteroid reductase (EC in the biosynthesis of cholesterol (Marijanovic et al., 2003 [PubMed 12829805]).[supplied by OMIM, May 2010]

GeneCards Summary for HSD17B7 Gene

HSD17B7 (Hydroxysteroid 17-Beta Dehydrogenase 7) is a Protein Coding gene. Among its related pathways are Ovarian steroidogenesis and superpathway of steroid hormone biosynthesis. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and estradiol 17-beta-dehydrogenase activity. An important paralog of this gene is WWOX.

UniProtKB/Swiss-Prot Summary for HSD17B7 Gene

  • Responsible for the reduction of the keto group on the C-3 of sterols.

Gene Wiki entry for HSD17B7 Gene

Additional gene information for HSD17B7 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HSD17B7 Gene

Genomics for HSD17B7 Gene

GeneHancer (GH) Regulatory Elements for HSD17B7 Gene

Promoters and enhancers for HSD17B7 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J162788 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 510.5 -0.2 -177 3.4 EP300 CTBP1 POLR2A HINFP ZNF341 KLF9 CREB1 NFIC SMC3 SP2 HSD17B7 lnc-CCDC190-3
GH01J162731 Enhancer 1.1 Ensembl ENCODE dbSUPER 5.8 -57.9 -57901 2 TGIF2 TEAD1 ZBTB26 ZSCAN9 KMT2B FOXA2 CEBPB SAP130 MIER3 MYRF HSD17B7 piR-55194-030 HSALNG0008017 DDR2
GH01J162695 Enhancer 1.2 ENCODE CraniofacialAtlas dbSUPER 4.6 -94.1 -94086 2.8 RBAK TRIM28 EP300 TEAD1 MXI1 ZNF341 RBM25 POLR2A OSR2 NR2F2 DDR2 DUSP12 HSD17B7 HSALNG0008017 RF00017-376
GH01J162741 Enhancer 0.3 dbSUPER 9 -48.2 -48179 2.4 HNF4A YY1 HSD17B7 DDR2 piR-55194-030 HSALNG0008017
GH01J162723 Enhancer 0.4 dbSUPER 5.3 -66.3 -66309 1.6 ZFHX2 GATA3 EGR1 ESR1 EGR2 DDR2 HSD17B7 HSALNG0008017 piR-55194-030
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HSD17B7 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HSD17B7

Top Transcription factor binding sites by QIAGEN in the HSD17B7 gene promoter:
  • AREB6
  • ER-alpha
  • Evi-1
  • GATA-3
  • Nkx2-5
  • POU2F1
  • POU2F1a
  • Sp1

Genomic Locations for HSD17B7 Gene

Genomic Locations for HSD17B7 Gene
22,117 bases
Plus strand
22,117 bases
Plus strand

Genomic View for HSD17B7 Gene

Genes around HSD17B7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HSD17B7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HSD17B7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSD17B7 Gene

Proteins for HSD17B7 Gene

  • Protein details for HSD17B7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    3-keto-steroid reductase
    Protein Accession:
    Secondary Accessions:
    • Q5T246
    • Q7Z4V9
    • Q8WWS2
    • Q9UF00

    Protein attributes for HSD17B7 Gene

    341 amino acids
    Molecular mass:
    38206 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for HSD17B7 Gene


neXtProt entry for HSD17B7 Gene

Post-translational modifications for HSD17B7 Gene

  • Phosphorylated.
  • Glycosylation at Asn37, Asn178, and Asn229
  • Ubiquitination at Lys20 and Lys315
  • Modification sites at PhosphoSitePlus

Other Protein References for HSD17B7 Gene

No data available for DME Specific Peptides for HSD17B7 Gene

Domains & Families for HSD17B7 Gene

Gene Families for HSD17B7 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for HSD17B7 Gene

  • Short-chain dehydrogenase/reductase SDR
  • Glucose/ribitol dehydrogenase family signature

Suggested Antigen Peptide Sequences for HSD17B7 Gene

GenScript: Design optimal peptide antigens:
  • Estradiol 17-beta-dehydrogenase 7 (DHB7_HUMAN)
  • Hydroxysteroid (17-beta) dehydrogenase 7 (Q5T250_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the short-chain dehydrogenases/reductases (SDR) family. ERG27 subfamily.
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family. ERG27 subfamily.
genes like me logo Genes that share domains with HSD17B7: view

Function for HSD17B7 Gene

Molecular function for HSD17B7 Gene

UniProtKB/Swiss-Prot Function:
Responsible for the reduction of the keto group on the C-3 of sterols.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 3beta-hydroxysteroid + NADP(+) = a 3-oxosteroid + H(+) + NADPH; Xref=Rhea:RHEA:34787, ChEBI:CHEBI:15378, ChEBI:CHEBI:36836, ChEBI:CHEBI:47788, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=;.
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=;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=17beta-estradiol + NADP(+) = estrone + H(+) + NADPH; Xref=Rhea:RHEA:24616, ChEBI:CHEBI:15378, ChEBI:CHEBI:16469, ChEBI:CHEBI:17263, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=;.
GENATLAS Biochemistry:
17 beta hydroxysteroid dehydrogenase type 7,expressed in the corpus luteum during pregnancy,responsible for extradive biosynthesis

Enzyme Numbers (IUBMB) for HSD17B7 Gene

Phenotypes From GWAS Catalog for HSD17B7 Gene

Gene Ontology (GO) - Molecular Function for HSD17B7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000253 3-keto sterol reductase activity TAS --
GO:0004303 estradiol 17-beta-dehydrogenase activity TAS,IEA --
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with HSD17B7: view
genes like me logo Genes that share phenotypes with HSD17B7: view

Animal Models for HSD17B7 Gene

MGI Knock Outs for HSD17B7:

Animal Model Products

  • Taconic Biosciences Mouse Models for HSD17B7

CRISPR Products

miRNA for HSD17B7 Gene

miRTarBase miRNAs that target HSD17B7

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HSD17B7 Gene

Localization for HSD17B7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HSD17B7 Gene

Cell membrane; Single-pass membrane protein.

Subcellular locations from

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 HSD17B7 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 4
mitochondrion 3
extracellular 2
nucleus 2
cytosol 2
cytoskeleton 1
peroxisome 1
lysosome 1
golgi apparatus 0

Gene Ontology (GO) - Cellular Components for HSD17B7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IBA 21873635
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with HSD17B7: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HSD17B7 Gene

Pathways & Interactions for HSD17B7 Gene

genes like me logo Genes that share pathways with HSD17B7: view

Pathways by source for HSD17B7 Gene

3 GeneGo (Thomson Reuters) pathways for HSD17B7 Gene
  • Androstenedione and testosterone biosynthesis and metabolism p.1
  • Estrogen biosynthesis
  • Estrone metabolism

UniProtKB/Swiss-Prot P56937-DHB7_HUMAN

  • Pathway: Steroid biosynthesis; estrogen biosynthesis.
  • Pathway: Steroid biosynthesis; zymosterol biosynthesis; zymosterol from lanosterol: step 5/6.

Gene Ontology (GO) - Biological Process for HSD17B7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006694 steroid biosynthetic process IEA --
GO:0006695 cholesterol biosynthetic process TAS,IBA --
GO:0006703 estrogen biosynthetic process IEA --
GO:0007399 nervous system development IEA --
genes like me logo Genes that share ontologies with HSD17B7: view

No data available for SIGNOR curated interactions for HSD17B7 Gene

Drugs & Compounds for HSD17B7 Gene

(10) Drugs for HSD17B7 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Estradiol Approved, Investigational, Vet_approved Pharma Sex hormone 1393
Estriol Approved, Investigational, Vet_approved Pharma Agonist 0
Estrone Approved Pharma Agonist Estrogenic hormone 23

(16) Additional Compounds for HSD17B7 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 11beta-Hydroxytestosterone
  • 11b-Hydroxytestosterone
  • 11β-hydroxytestosterone
  • 11b,17b-Dihydroxy-4-androsten-3-one
  • 11β,17β-dihydroxy-4-androsten-3-one
  • 11beta-Hydroxy-4-androstene-3,17-dione
  • 4-Androsten-11beta-ol-3,17-dione
  • Androst-4-ene-3,17-dione-11beta-ol
  • 11b-Hydroxy-4-androstene-3,17-dione
  • 11β-hydroxy-4-androstene-3,17-dione
  • 16 alpha OHE
  • 3,16alpha-Dihydroxy-1,3,5(10)-estratrien-17-one
  • 3,16alpha-Dihydroxyestra-1,3,5(10)-trien-17-one
  • Estra-1,3,5(10)-triene-3,16alpha-diol-17-one
  • 16 a OHE
  • (16beta)-3,16-Dihydroxyestra-1,3,5(10)-trien-17-one
  • 16-Hydroxyestrone
  • 3,16-Dihydroxyestra-1,3,5(10)-trien-17-one
  • 3,16beta-Dihydroxy-estra-1,3,5(10)-trien-17-one
  • (16b)-3,16-Dihydroxyestra-1,3,5(10)-trien-17-one
  • (5a)-4-Methylcholesta-8,24-dien-3-one
  • (5alpha)-4-Methylcholesta-8,24-dien-3-one
  • 3-dehydro-4-Methylzymosterol
  • 4-Methyl-5a-cholesta-8,24-dien-3-one
  • 4-Methyl-5alpha-cholesta-8,24-dien-3-one
genes like me logo Genes that share compounds with HSD17B7: view

Transcripts for HSD17B7 Gene

mRNA/cDNA for HSD17B7 Gene

12 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HSD17B7 Gene

No ASD Table

Relevant External Links for HSD17B7 Gene

GeneLoc Exon Structure for

Expression for HSD17B7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HSD17B7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HSD17B7 Gene

This gene is overexpressed in Liver (x6.0).

Protein differential expression in normal tissues from HIPED for HSD17B7 Gene

This gene is overexpressed in Colon muscle (32.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HSD17B7 Gene

Protein tissue co-expression partners for HSD17B7 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HSD17B7

SOURCE GeneReport for Unigene cluster for HSD17B7 Gene:


mRNA Expression by UniProt/SwissProt for HSD17B7 Gene:

Tissue specificity: Highly expressed in adrenal gland, liver, lung and thymus. Expressed in breast, ovaries, pituitary gland, pregnant uterus, prostate, kidney, lymph node, small intestine, spinal cord and trachea. Weakly expressed in all other tissues tested. Isoform 3 is expressed in eye ciliary epithelial cells and neuroendocrine cells.

Evidence on tissue expression from TISSUES for HSD17B7 Gene

  • Liver(4.3)
  • Skin(4.2)
genes like me logo Genes that share expression patterns with HSD17B7: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for HSD17B7 Gene

Orthologs for HSD17B7 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for HSD17B7 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia HSD17B7 31 30
  • 99.61 (n)
(Bos Taurus)
Mammalia HSD17B7 31 30
  • 86.79 (n)
(Canis familiaris)
Mammalia HSD17B7 31 30
  • 85.66 (n)
(Rattus norvegicus)
Mammalia Hsd17b7 30
  • 81.84 (n)
(Mus musculus)
Mammalia Hsd17b7 17 31 30
  • 80.42 (n)
(Monodelphis domestica)
Mammalia HSD17B7 31
  • 76 (a)
(Gallus gallus)
Aves HSD17B7 31 30
  • 65.53 (n)
(Anolis carolinensis)
Reptilia HSD17B7 31
  • 55 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia hsd17b7 30
  • 67.7 (n)
(Danio rerio)
Actinopterygii hsd17b7 31 31 30
  • 64.2 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG27 33 31 30
  • 42.98 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F19756g 30
  • 41.41 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR068W 30
  • 40.25 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes erg27 30
  • 42.75 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9141 31
  • 42 (a)
Species where no ortholog for HSD17B7 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for HSD17B7 Gene

Gene Tree for HSD17B7 (if available)
Gene Tree for HSD17B7 (if available)
Evolutionary constrained regions (ECRs) for HSD17B7: view image

Paralogs for HSD17B7 Gene

(1) SIMAP similar genes for HSD17B7 Gene using alignment to 5 proteins:

  • F2Z2C2_HUMAN
  • Q5T248_HUMAN
  • Q5T249_HUMAN

Pseudogenes.org Pseudogenes for HSD17B7 Gene

genes like me logo Genes that share paralogs with HSD17B7: view

Variants for HSD17B7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HSD17B7 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
709691 Benign: not provided 162,804,262(+) C/T INTRON_VARIANT
709692 Likely Benign: not provided 162,804,308(+) T/C SYNONYMOUS_VARIANT
718961 Benign: not provided 162,790,832(+) G/C MISSENSE_VARIANT
767721 Benign: not provided 162,797,889(+) G/A SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT
769247 Benign: not provided 162,812,355(+) A/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for HSD17B7 Gene

Structural Variations from Database of Genomic Variants (DGV) for HSD17B7 Gene

Variant ID Type Subtype PubMed ID
esv1698857 CNV insertion 17803354
nsv516482 CNV gain+loss 19592680
nsv946475 CNV duplication 23825009

Variation tolerance for HSD17B7 Gene

Residual Variation Intolerance Score: 40.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.09; 69.05% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HSD17B7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSD17B7 Gene

Disorders for HSD17B7 Gene

Additional Disease Information for HSD17B7

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for HSD17B7 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HSD17B7 Gene

Publications for HSD17B7 Gene

  1. Determination of cDNA, gene structure and chromosomal localization of the novel human 17beta-hydroxysteroid dehydrogenase type 7(1). (PMID: 10544267) Krazeisen A … Adamski J (FEBS letters 1999) 2 3 4 23 54
  2. Maternal and fetal genetic associations of PTGER3 and PON1 with preterm birth. (PMID: 20140262) Ryckman KK … Jacobsson B (PloS one 2010) 3 41 54
  3. Genetic variation in the estrogen metabolic pathway and mammographic density as an intermediate phenotype of breast cancer. (PMID: 20214802) Li J … Hall P (Breast cancer research : BCR 2010) 3 41 54
  4. Spontaneous preterm birth in African Americans is associated with infection and inflammatory response gene variants. (PMID: 19019335) Velez DR … Menon R (American journal of obstetrics and gynecology 2009) 3 41 54
  5. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. (PMID: 19536175) Ehret GB … Chakravarti A (European journal of human genetics : EJHG 2009) 3 41 54

Products for HSD17B7 Gene

Sources for HSD17B7 Gene