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Aliases for HSD17B3 Gene

Aliases for HSD17B3 Gene

  • Hydroxysteroid 17-Beta Dehydrogenase 3 2 3 5
  • Short Chain Dehydrogenase/Reductase Family 12C Member 2 3 4
  • Testicular 17-Beta-Hydroxysteroid Dehydrogenase 3 4
  • 17-Beta-Hydroxysteroid Dehydrogenase Type 3 3 4
  • 17-Beta-HSD 3 3 4
  • EDH17B3 3 4
  • SDR12C2 3 4
  • Short Chain Dehydrogenase/Reductase Family 12C, Member 2 2
  • Hydroxysteroid (17-Beta) Dehydrogenase 3 2
  • Testosterone 17-Beta-Dehydrogenase 3 3
  • Hydroxysteroid Dehydrogenase 3 3
  • 17-Beta-HSD3 3
  • EC 4

External Ids for HSD17B3 Gene

Previous GeneCards Identifiers for HSD17B3 Gene

  • GC09M089811
  • GC09M090741
  • GC09M092455
  • GC09M094377
  • GC09M096077
  • GC09M098037
  • GC09M098998
  • GC09M068608

Summaries for HSD17B3 Gene

Entrez Gene Summary for HSD17B3 Gene

  • This isoform of 17 beta-hydroxysteroid dehydrogenase is expressed predominantly in the testis and catalyzes the conversion of androstenedione to testosterone. It preferentially uses NADP as cofactor. Deficiency can result in male pseudohermaphroditism with gynecomastia. [provided by RefSeq, Jul 2008]

GeneCards Summary for HSD17B3 Gene

HSD17B3 (Hydroxysteroid 17-Beta Dehydrogenase 3) is a Protein Coding gene. Diseases associated with HSD17B3 include 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency and Pseudohermaphroditism. Among its related pathways are Fatty Acyl-CoA Biosynthesis and Metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and testosterone 17-beta-dehydrogenase (NADP+) activity. An important paralog of this gene is HSD17B12.

UniProtKB/Swiss-Prot for HSD17B3 Gene

  • Favors the reduction of androstenedione to testosterone. Uses NADPH while the two other EDH17B enzymes use NADH.

Gene Wiki entry for HSD17B3 Gene

Additional gene information for HSD17B3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HSD17B3 Gene

Genomics for HSD17B3 Gene

GeneHancer (GH) Regulatory Elements for HSD17B3 Gene

Promoters and enhancers for HSD17B3 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
GH09J096235 Promoter 0.5 EPDnew 661.9 +78.4 78409 0.1 HSD17B3 RNU6-1160P HSD17B3-AS1 EIF4BP3 ENSG00000285269
GH09J096302 Promoter 0.5 EPDnew 650.4 +11.8 11787 0.1 HSD17B3 ENSG00000285269 RNU6-1160P
GH09J096216 Enhancer 1.3 FANTOM5 Ensembl ENCODE 12.3 +95.9 95900 4 RB1 SIN3A ZNF2 ZNF48 RAD21 TCF12 ZNF335 GLIS2 ZNF143 PRPF4 HSD17B3-AS1 HSD17B3 RNU6-1160P EIF4BP3
GH09J096278 Enhancer 0.7 ENCODE 20.9 +33.5 33453 3.5 SMARCE1 ZNF687 MAZ ESRRA HCFC1 SIN3A GATAD2B DPF2 MNT ZNF592 HSD17B3 HSD17B3-AS1 RNU6-1160P ANKRD18CP ENSG00000285269
GH09J096513 Enhancer 1.1 VISTA Ensembl ENCODE dbSUPER 10 -200.9 -200881 3.3 PKNOX1 POLR2A CEBPB FOS HNF4A CEBPG NR2F2 HSD17B3 RNU6-1160P HABP4 LOC105376163 CDC14B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HSD17B3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HSD17B3 gene promoter:
  • Pax-4a
  • PPAR-gamma2
  • PPAR-gamma1
  • POU2F1
  • POU2F1c
  • POU2F1b
  • POU2F1a
  • Nkx5-1
  • ATF-2

Genomic Locations for HSD17B3 Gene

Genomic Locations for HSD17B3 Gene
78,678 bases
Minus strand
66,847 bases
Minus strand

Genomic View for HSD17B3 Gene

Genes around HSD17B3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HSD17B3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HSD17B3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSD17B3 Gene

Proteins for HSD17B3 Gene

  • Protein details for HSD17B3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Testosterone 17-beta-dehydrogenase 3
    Protein Accession:
    Secondary Accessions:
    • Q5U0Q6

    Protein attributes for HSD17B3 Gene

    310 amino acids
    Molecular mass:
    34516 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for HSD17B3 Gene


neXtProt entry for HSD17B3 Gene

Post-translational modifications for HSD17B3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for HSD17B3 Gene

Domains & Families for HSD17B3 Gene

Gene Families for HSD17B3 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for HSD17B3 Gene

Suggested Antigen Peptide Sequences for HSD17B3 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the short-chain dehydrogenases/reductases (SDR) family. 17-beta-HSD 3 subfamily.
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family. 17-beta-HSD 3 subfamily.
genes like me logo Genes that share domains with HSD17B3: view

Function for HSD17B3 Gene

Molecular function for HSD17B3 Gene

UniProtKB/Swiss-Prot Function:
Favors the reduction of androstenedione to testosterone. Uses NADPH while the two other EDH17B enzymes use NADH.
UniProtKB/Swiss-Prot CatalyticActivity:
Testosterone + NADP(+) = androst-4-ene-3,17-dione + NADPH.
GENATLAS Biochemistry:
17 beta-hydroxysteroid dehydrogenase,type III,microsomal,NADP dependent,expressed predominantly in the testis,catalyzing the last step of testosterone biosynthesis,playing an essential role in the formation of active intracellular sex steroids

Enzyme Numbers (IUBMB) for HSD17B3 Gene

Phenotypes From GWAS Catalog for HSD17B3 Gene

Gene Ontology (GO) - Molecular Function for HSD17B3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016491 oxidoreductase activity IEA --
GO:0047035 testosterone dehydrogenase (NAD+) activity TAS --
GO:0047045 testosterone 17-beta-dehydrogenase (NADP+) activity IDA 26545797
genes like me logo Genes that share ontologies with HSD17B3: view
genes like me logo Genes that share phenotypes with HSD17B3: view

Human Phenotype Ontology for HSD17B3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for HSD17B3

miRNA for HSD17B3 Gene

miRTarBase miRNAs that target HSD17B3

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for HSD17B3 Gene

Localization for HSD17B3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HSD17B3 Gene

Endoplasmic reticulum.

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 HSD17B3 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 2
peroxisome 1
nucleus 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for HSD17B3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 26545797
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0043231 intracellular membrane-bounded organelle TAS 8075637
genes like me logo Genes that share ontologies with HSD17B3: view

Pathways & Interactions for HSD17B3 Gene

genes like me logo Genes that share pathways with HSD17B3: view

UniProtKB/Swiss-Prot P37058-DHB3_HUMAN

  • Pathway: Hormone biosynthesis; testosterone biosynthesis.

Gene Ontology (GO) - Biological Process for HSD17B3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006694 steroid biosynthetic process IEA,IBA --
GO:0006702 androgen biosynthetic process TAS --
GO:0030539 male genitalia development IEA,TAS --
GO:0042445 hormone metabolic process IBA --
genes like me logo Genes that share ontologies with HSD17B3: view

No data available for SIGNOR curated interactions for HSD17B3 Gene

Drugs & Compounds for HSD17B3 Gene

(9) Drugs for HSD17B3 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Testosterone Approved, Investigational Pharma Endogenous androgen receptor agonist 594
Androstenedione Experimental, Illicit Pharma 0
androstenediol Experimental, Illicit Pharma 0
TC HSD 21 Pharma 0

(5) Additional Compounds for HSD17B3 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
  • beta-Nicotinamide adenine dinucleotide phosphate
  • NADP+
  • Nicotinamide adenine dinucleotide phosphate
  • Oxidized nicotinamide-adenine dinucleotide phosphate
  • TPN
Testosterone sulfate
  • Testosterone-17beta-sulfate
  • Testosterone-17b-sulfate
  • Testosterone-17b-sulfuric acid
  • Testosterone-17b-sulphate
  • Testosterone-17b-sulphuric acid
genes like me logo Genes that share compounds with HSD17B3: view

Transcripts for HSD17B3 Gene

Unigene Clusters for HSD17B3 Gene

Hydroxysteroid (17-beta) dehydrogenase 3:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HSD17B3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b
SP1: - - - -
SP3: - -

Relevant External Links for HSD17B3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for HSD17B3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HSD17B3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HSD17B3 Gene

This gene is overexpressed in Testis (x8.0).

Protein differential expression in normal tissues from HIPED for HSD17B3 Gene

This gene is overexpressed in Testis (37.1) and Saliva (20.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HSD17B3 Gene

Protein tissue co-expression partners for HSD17B3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HSD17B3 Gene:


SOURCE GeneReport for Unigene cluster for HSD17B3 Gene:


mRNA Expression by UniProt/SwissProt for HSD17B3 Gene:

Tissue specificity: Testis.

Evidence on tissue expression from TISSUES for HSD17B3 Gene

  • Nervous system(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HSD17B3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • urinary
Head and neck:
  • brain
  • ear
  • eye
  • head
  • hypothalamus
  • neck
  • pituitary gland
  • thyroid
  • breast
  • heart
  • lung
  • intestine
  • large intestine
  • small intestine
  • ovary
  • penis
  • testicle
  • urethra
  • uterus
  • vagina
  • vulva
  • blood
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with HSD17B3: view

Orthologs for HSD17B3 Gene

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

Orthologs for HSD17B3 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia HSD17B3 34 33
  • 99.46 (n)
(Bos Taurus)
Mammalia HSD17B3 34 33
  • 84.62 (n)
(Canis familiaris)
Mammalia HSD17B3 34 33
  • 83.06 (n)
(Rattus norvegicus)
Mammalia Hsd17b3 33
  • 78.87 (n)
(Mus musculus)
Mammalia Hsd17b3 16 34 33
  • 78.03 (n)
(Monodelphis domestica)
Mammalia -- 34
  • 55 (a)
-- 34
  • 51 (a)
(Gallus gallus)
Aves ZNF367 33
  • 67.11 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia hsd17b3 33
  • 64.34 (n)
(Danio rerio)
Actinopterygii hsd17b3 34 33
  • 59.65 (n)
-- 33
fruit fly
(Drosophila melanogaster)
Insecta CG6012 35
  • 34 (a)
(Caenorhabditis elegans)
Secernentea C06B3.4 35
  • 37 (a)
F11A5.12 35
  • 36 (a)
F25G6.5 35
  • 35 (a)
C06B3.5 35
  • 35 (a)
dhs-27 34
  • 28 (a)
dhs-5 34
  • 21 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IFA38 34
  • 26 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 38 (a)
Species where no ortholog for HSD17B3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • 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)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • 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)

Evolution for HSD17B3 Gene

Gene Tree for HSD17B3 (if available)
Gene Tree for HSD17B3 (if available)
Evolutionary constrained regions (ECRs) for HSD17B3: view image

Paralogs for HSD17B3 Gene

Paralogs for HSD17B3 Gene

(2) SIMAP similar genes for HSD17B3 Gene using alignment to 3 proteins:

  • Q5U0Q6_HUMAN
  • Q6FH62_HUMAN
genes like me logo Genes that share paralogs with HSD17B3: view

Variants for HSD17B3 Gene

Sequence variations from dbSNP and Humsavar for HSD17B3 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1017003712 uncertain-significance, 17-Beta-Hydroxysteroid Dehydrogenase III Deficiency 96,298,418(-) C/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs115063639 Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] 96,244,356(-) T/A/C coding_sequence_variant, missense_variant, synonymous_variant
rs119481074 pathogenic, Testosterone 17-beta-dehydrogenase deficiency, Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] 96,240,877(-) T/C 3_prime_UTR_variant, coding_sequence_variant, missense_variant
rs119481075 pathogenic, likely-pathogenic, Testosterone 17-beta-dehydrogenase deficiency, not provided, Pseudohermaphroditism, Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] 96,254,906(-) C/T 5_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant
rs119481076 pathogenic, Testosterone 17-beta-dehydrogenase deficiency, Pseudohermaphroditism, Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] 96,244,393(-) G/A/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for HSD17B3 Gene

Variant ID Type Subtype PubMed ID
esv2667821 CNV deletion 23128226
esv2738812 CNV deletion 23290073
esv3545167 CNV deletion 23714750
esv3891694 CNV loss 25118596
esv4565 CNV loss 18987735
nsv1147999 OTHER inversion 26484159
nsv6623 CNV insertion 18451855

Variation tolerance for HSD17B3 Gene

Residual Variation Intolerance Score: 29.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.53; 55.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HSD17B3 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSD17B3 Gene

Disorders for HSD17B3 Gene

MalaCards: The human disease database

(6) MalaCards diseases for HSD17B3 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
17-beta hydroxysteroid dehydrogenase iii deficiency
  • 17-ketosteroid reductase deficiency of testis
  • indeterminate sex and pseudohermaphroditism
leydig cell hypoplasia
  • leydig cell agenesis
  • familial hypospadias
- elite association - COSMIC cancer census association via MalaCards


  • Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]: These individuals have unambiguous female external genitalia at birth, but fail to menstruate at the time of expected puberty and instead virilize as evidenced by growth of the phallus. Breast development may or may not take place. {ECO:0000269 PubMed:11158067, ECO:0000269 PubMed:26545797, ECO:0000269 PubMed:8075637, ECO:0000269 PubMed:8550739, ECO:0000269 PubMed:9709959, ECO:0000269 PubMed:9758445}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for HSD17B3 Gene

hypospadias,pseudovaginal,perineoscrotal,male pseudohermaphroditism with elevated androstenedione

Additional Disease Information for HSD17B3

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 HSD17B3: view

Publications for HSD17B3 Gene

  1. Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency. (PMID: 11158067) Lindqvist A … Andersson S (The Journal of clinical endocrinology and metabolism 2001) 3 4 22 25 58
  2. Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3. (PMID: 8075637) Geissler WM … Andersson S (Nature genetics 1994) 2 3 4 22 58
  3. Association of the G289S single nucleotide polymorphism in the HSD17B3 gene with prostate cancer in Italian men. (PMID: 12210481) Margiotti K … Reichardt JK (The Prostate 2002) 3 22 44 58
  4. A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism. (PMID: 9758445) Bilbao JR … Castaño L (European journal of endocrinology 1998) 3 4 22 58
  5. Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene (HSD17B3). (PMID: 9709959) Moghrabi N … Andersson S (The Journal of clinical endocrinology and metabolism 1998) 3 4 22 58

Products for HSD17B3 Gene

Sources for HSD17B3 Gene

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