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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
  • 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
  • 3-Keto-Steroid Reductase 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. Diseases associated with HSD17B7 include X-Linked Chondrodysplasia Punctata. Among its related pathways are Ovarian steroidogenesis and cholesterol biosynthesis III (via desmosterol). Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and estradiol 17-beta-dehydrogenase activity.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies 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 1.9 EPDnew Ensembl ENCODE 660.6 -0.4 -377 3 HDGF HDAC1 PKNOX1 ATF1 SMAD1 ARID4B RFX5 YY1 ZNF335 EGR1 HSD17B7 GC01P162782
GH01J162731 Enhancer 1.2 Ensembl ENCODE dbSUPER 5.8 -57.9 -57941 1.6 ELF3 FOXA2 ARID4B DMAP1 ZNF48 ZSCAN9 RARA CREM NFKBIZ HMG20B HSD17B7 RN7SL861P DDR2
GH01J162695 Enhancer 1.3 Ensembl ENCODE dbSUPER 4.6 -94.1 -94086 2.8 PKNOX1 FOXA2 FEZF1 ZNF48 JUNB REST SMARCB1 NFIL3 SMARCA4 ZSCAN16 DUSP12 DDR2 HSD17B7 RN7SL861P
GH01J162723 Enhancer 0.5 dbSUPER 9.3 -65.6 -65607 3.7 ZFHX2 GATA3 EGR1 GLIS1 ZNF7 EGR2 HSD17B7 DDR2 RN7SL861P
GH01J162755 Enhancer 0.4 dbSUPER 9.4 -33.7 -33657 2.5 CTCF RAD21 HSD17B7 DDR2 RN7SL861P
- 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

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

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

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 membrane proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for HSD17B7 Gene

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:
A 3-beta-hydroxysteroid + NADP(+) = a 3-oxosteroid + NADPH.
UniProtKB/Swiss-Prot CatalyticActivity:
17-beta-estradiol + NAD(P)(+) = estrone + NAD(P)H.
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

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 IEA,TAS --
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

miRNA for HSD17B7 Gene

miRTarBase miRNAs that target HSD17B7

Clone Products

No data available for Phenotypes From GWAS Catalog , 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 2
extracellular 1
peroxisome 1
nucleus 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for HSD17B7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IBA,IEA --
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

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 --
GO:0006703 estrogen biosynthetic process IEA --
GO:0055114 oxidation-reduction process 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

(9) 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 1400
Estriol Approved, Investigational, Vet_approved Pharma Agonist 0
Estrone Approved Pharma Agonist Estrogenic hormone 22

(17) 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

Unigene Clusters for HSD17B7 Gene

Hydroxysteroid (17-beta) dehydrogenase 7:
Representative Sequences:

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
ECgene alternative splicing isoforms for

Expression for HSD17B7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of HSD17B7 Gene:


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 34 33
  • 99.61 (n)
(Bos Taurus)
Mammalia HSD17B7 34 33
  • 86.79 (n)
(Canis familiaris)
Mammalia HSD17B7 34 33
  • 85.66 (n)
(Rattus norvegicus)
Mammalia Hsd17b7 33
  • 81.84 (n)
(Mus musculus)
Mammalia Hsd17b7 16 34 33
  • 80.42 (n)
(Monodelphis domestica)
Mammalia HSD17B7 34
  • 76 (a)
(Gallus gallus)
Aves HSD17B7 34 33
  • 65.53 (n)
(Anolis carolinensis)
Reptilia HSD17B7 34
  • 55 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia hsd17b7 33
  • 67.7 (n)
(Danio rerio)
Actinopterygii hsd17b7 34 34 33
  • 64.2 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG27 36 34 33
  • 42.98 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F19756g 33
  • 41.41 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR068W 33
  • 40.25 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes erg27 33
  • 42.75 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9141 34
  • 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
  • V9GYN3_HUMAN Pseudogenes for HSD17B7 Gene

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

No data available for Paralogs for HSD17B7 Gene

Variants for HSD17B7 Gene

Sequence variations from dbSNP and Humsavar for HSD17B7 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000014964 -- 162,802,864(+) G/A genic_downstream_transcript_variant, intron_variant, non_coding_transcript_variant
rs1000153960 -- 162,796,789(+) T/C intron_variant
rs1000275827 -- 162,790,135(+) A/G upstream_transcript_variant
rs1000556097 -- 162,803,055(+) C/ genic_downstream_transcript_variant, intron_variant
rs1000860954 -- 162,807,723(+) A/G genic_downstream_transcript_variant, intron_variant

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

MalaCards: The human disease database

(1) MalaCards diseases for HSD17B7 Gene - From: DISEASES

Disorder Aliases PubMed IDs
x-linked chondrodysplasia punctata
  • chondrodystrophia calcificans congenita
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for HSD17B7

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HSD17B7: view

No data available for 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 22 58
  2. Maternal and fetal genetic associations of PTGER3 and PON1 with preterm birth. (PMID: 20140262) Ryckman KK … Jacobsson B (PloS one 2010) 3 44 58
  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 44 58
  4. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B … Oppermann U (Chemico-biological interactions 2009) 2 3 58
  5. 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 44 58

Products for HSD17B7 Gene

Sources for HSD17B7 Gene

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