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Aliases for HSD17B3 Gene

Aliases for HSD17B3 Gene

  • Hydroxysteroid (17-Beta) Dehydrogenase 3 2 3
  • EDH17B3 3 4 6
  • 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
  • SDR12C2 3 4
  • Short Chain Dehydrogenase/Reductase Family 12C, Member 2 3
  • Short Chain Dehydrogenase/Reductase Family 12C 2
  • Testosterone 17-Beta-Dehydrogenase 3 3
  • 17-Beta-HSD3 3
  • EC 1.1.1.64 4
  • Member 2 2

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 pseudohermaphroditism, male, with gynecomastia and gynecomastia. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include testosterone 17-beta-dehydrogenase (NADP+) activity. An important paralog of this gene is HSDL1.

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

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

Genomics for HSD17B3 Gene

Regulatory Elements for HSD17B3 Gene

Genomic Location for HSD17B3 Gene

Start:
96,235,306 bp from pter
End:
96,302,302 bp from pter
Size:
66,997 bases
Orientation:
Minus strand

Genomic View for HSD17B3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    P37058-DHB3_HUMAN
    Recommended name:
    Testosterone 17-beta-dehydrogenase 3
    Protein Accession:
    P37058
    Secondary Accessions:
    • Q5U0Q6

    Protein attributes for HSD17B3 Gene

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

    Alternative splice isoforms for HSD17B3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HSD17B3 Gene

Proteomics data for HSD17B3 Gene at MOPED

Post-translational modifications for HSD17B3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HSD17B3 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for HSD17B3 Gene

Domains for HSD17B3 Gene

Gene Families for HSD17B3 Gene

HGNC:
  • SDRC3 :Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3

Suggested Antigen Peptide Sequences for HSD17B3 Gene

Graphical View of Domain Structure for InterPro Entry

P37058

UniProtKB/Swiss-Prot:

DHB3_HUMAN :
  • P37058
Family:
  • 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

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
UniProtKB/Swiss-Prot CatalyticActivity: Testosterone + NADP(+) = androst-4-ene-3,17-dione + NADPH
UniProtKB/Swiss-Prot Function: Favors the reduction of androstenedione to testosterone. Uses NADPH while the two other EDH17B enzymes use NADH

Enzyme Numbers (IUBMB) for HSD17B3 Gene

Gene Ontology (GO) - Molecular Function for HSD17B3 Gene

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

Animal Model Products

CRISPR Products

miRNA for HSD17B3 Gene

miRTarBase miRNAs that target HSD17B3

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HSD17B3

In Situ Assay Products

Flow Cytometry Products

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

Localization for HSD17B3 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HSD17B3 Gene COMPARTMENTS Subcellular localization image for HSD17B3 gene
Compartment Confidence
endoplasmic reticulum 4
extracellular 2
cytosol 1
lysosome 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for HSD17B3 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

No data available for Subcellular locations from UniProtKB/Swiss-Prot for HSD17B3 Gene

Pathways for HSD17B3 Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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:0006702 androgen biosynthetic process TAS --
GO:0008152 metabolic process --
GO:0008202 steroid metabolic process TAS --
GO:0030539 male genitalia development TAS 8075637
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with HSD17B3: view

Compounds for HSD17B3 Gene

(7) HMDB Compounds for HSD17B3 Gene

Compound Synonyms Cas Number PubMed IDs
Androst-5-ene-3b,17b-diol
  • 3beta,17beta-Dihydroxy-5-androstene
521-17-5
Androstenedione
  • (4)-Androsten-3,17-dione
63-05-8
NADH
  • 1,4-Dihydronicotinamide adenine dinucleotide
58-68-4
NADP
  • Adenine-nicotinamide dinucleotide phosphate
53-59-8
NADPH
  • 2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
53-57-6

(1) Drugbank Compounds for HSD17B3 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
NADH
  • beta-DPNH
606-68-8 target

(8) Novoseek inferred chemical compound relationships for HSD17B3 Gene

Compound -log(P) Hits PubMed IDs
17beta-hydroxysteroid 93.1 15
androstenedione 85.3 7
testosterone 72.3 14
estrone 71.4 2
estradiol 52 2
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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HSD17B3

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for HSD17B3

Flow Cytometry 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: - - - -
SP2:
SP3: - -
SP4:

Relevant External Links for HSD17B3 Gene

GeneLoc Exon Structure for
HSD17B3
ECgene alternative splicing isoforms for
HSD17B3

Expression for HSD17B3 Gene

mRNA expression in normal human tissues 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 (8.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for HSD17B3 Gene

SOURCE GeneReport for Unigene cluster for HSD17B3 Gene Hs.477

mRNA Expression by UniProt/SwissProt for HSD17B3 Gene

P37058-DHB3_HUMAN
Tissue specificity: Testis
genes like me logo Genes that share expressions with HSD17B3: view

In Situ Assay Products

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
chimpanzee
(Pan troglodytes)
Mammalia HSD17B3 35
  • 99.46 (n)
  • 98.71 (a)
HSD17B3 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HSD17B3 35
  • 84.62 (n)
  • 80.97 (a)
HSD17B3 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HSD17B3 35
  • 83.06 (n)
  • 80.86 (a)
HSD17B3 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hsd17b3 35
  • 78.03 (n)
  • 73.44 (a)
Hsd17b3 16
Hsd17b3 36
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 51 (a)
OneToMany
-- 36
  • 55 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Hsd17b3 35
  • 78.87 (n)
  • 74.18 (a)
chicken
(Gallus gallus)
Aves ZNF367 35
  • 67.11 (n)
  • 60.53 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia hsd17b3 35
  • 64.34 (n)
  • 61.03 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
hsd17b3 35
  • 59.65 (n)
  • 48.25 (a)
hsd17b3 36
  • 46 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG6012 37
  • 34 (a)
worm
(Caenorhabditis elegans)
Secernentea dhs-27 36
  • 28 (a)
OneToMany
dhs-5 36
  • 21 (a)
OneToMany
F25G6.5 37
  • 35 (a)
C06B3.4 37
  • 37 (a)
F11A5.12 37
  • 36 (a)
C06B3.5 37
  • 35 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IFA38 36
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 38 (a)
ManyToMany
Species with no ortholog for HSD17B3:
  • 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

ENSEMBL:
Gene Tree for HSD17B3 (if available)
TreeFam:
Gene Tree for HSD17B3 (if available)

Paralogs for HSD17B3 Gene

Paralogs for HSD17B3 Gene

Selected SIMAP similar genes for HSD17B3 Gene using alignment to 3 proteins:

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 Sequence Context AA Info Type MAF
rs166819 -- 96,264,238(+) ACACA(A/G)AACAA intron-variant
rs172169 -- 96,274,490(+) gatag(A/G/T)caact intron-variant
rs182207 -- 96,274,501(+) caaca(A/T)aatga intron-variant
rs280654 -- 96,267,149(+) GGCAA(A/G)AGACA intron-variant
rs280655 -- 96,268,686(+) GCTCA(C/T)GCCTG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv893601 CNV Loss 21882294
nsv6623 CNV Insertion 18451855
esv4565 CNV Deletion 18987735
esv2738812 CNV Deletion 23290073
esv2667821 CNV Deletion 23128226

Relevant External Links for HSD17B3 Gene

HapMap Linkage Disequilibrium report
HSD17B3
Human Gene Mutation Database (HGMD)
HSD17B3
Locus Specific Mutation Databases (LSDB)
HSD17B3

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

Disorders for HSD17B3 Gene

(1) OMIM Diseases for HSD17B3 Gene (605573)

UniProtKB/Swiss-Prot

DHB3_HUMAN
  • 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: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.

(3) University of Copenhagen DISEASES for HSD17B3 Gene

(2) Novoseek inferred disease relationships for HSD17B3 Gene

Disease -log(P) Hits PubMed IDs
pseudohermaphroditism male 89.3 6
prostate cancer 26 4

Genatlas disease for HSD17B3 Gene

hypospadias,pseudovaginal,perineoscrotal,male pseudohermaphroditism with elevated androstenedione

Relevant External Links for HSD17B3

Genetic Association Database (GAD)
HSD17B3
Human Genome Epidemiology (HuGE) Navigator
HSD17B3
genes like me logo Genes that share disorders with HSD17B3: view

Publications for HSD17B3 Gene

  1. Male pseudohermaphroditism caused by mutations of testicular 17 beta- hydroxysteroid dehydrogenase 3. (PMID: 8075637) Geissler W.M. … Andersson S. (Nat. Genet. 1994) 2 3 4 23
  2. Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene (HSD17B3). (PMID: 9709959) Moghrabi N. … Andersson S. (J. Clin. Endocrinol. Metab. 1998) 3 4 23
  3. A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism. (PMID: 9758445) Bilbao J.R. … Castano L. (Eur. J. Endocrinol. 1998) 3 4 23
  4. Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency. (PMID: 11158067) Lindqvist A. … Andersson S. (J. Clin. Endocrinol. Metab. 2001) 3 4 23
  5. Association of the G289S single nucleotide polymorphism in the HSD17B3 gene with prostate cancer in Italian men. (PMID: 12210481) Margiotti K. … Reichardt J.K. (Prostate 2002) 3 23 48

Products for HSD17B3 Gene

Sources for HSD17B3 Gene

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