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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 1.1.1.64 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 Pseudohermaphroditism, Male, With Gynecomastia and Gynecomastia. Among its related pathways are Fatty Acyl-CoA Biosynthesis and superpathway of steroid hormone biosynthesis. 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

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

Genomics for HSD17B3 Gene

Regulatory Elements for HSD17B3 Gene

Enhancers for HSD17B3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09G096216 1.5 FANTOM5 Ensembl ENCODE 12.3 +95.9 95901 4.0 ATF1 SIN3A ZNF2 ZNF48 TCF12 GLIS2 ZNF143 KLF13 MXD4 REST HSD17B3-AS1 HSD17B3 RNU6-1160P EIF4BP3
GH09G096278 0.7 ENCODE 21 +33.5 33453 3.5 PKNOX1 ESRRA SIN3A CTBP1 GATA3 FOS RCOR1 ZNF687 MAZ HCFC1 HSD17B3 HSD17B3-AS1 RNU6-1160P ANKRD18CP
GH09G096513 1.4 VISTA Ensembl ENCODE dbSUPER 10 -200.9 -200882 3.3 PKNOX1 ZNF133 BHLHE40 CEBPB CEBPG NR2F2 SMARCA4 POLR2A ZBTB33 FOS HSD17B3 RNU6-1160P HABP4 LOC105376163
GH09G096176 0.8 ENCODE dbSUPER 11.2 +136.6 136559 1.0 CTCF ZNF316 POLR2A RAD21 HSD17B3-AS1 HSD17B3 VN1R51P EIF4BP3
GH09G096051 0.5 FANTOM5 16.6 +262.4 262388 0.3 ZNF316 NFYB EMSY MAFK HSD17B3 LINC00092 PIR61383
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HSD17B3 on UCSC Golden Path with GeneCards custom track

Genomic Location for HSD17B3 Gene

Chromosome:
9
Start:
96,235,306 bp from pter
End:
96,313,983 bp from pter
Size:
78,678 bases
Orientation:
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:
    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

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

Protein Domains for HSD17B3 Gene

Suggested Antigen Peptide Sequences for HSD17B3 Gene

Graphical View of Domain Structure for InterPro Entry

P37058

UniProtKB/Swiss-Prot:

DHB3_HUMAN :
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family. 17-beta-HSD 3 subfamily.
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 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

CRISPR Products

miRNA for HSD17B3 Gene

miRTarBase miRNAs that target HSD17B3

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

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

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 --
GO:0006702 androgen biosynthetic process TAS --
GO:0030539 male genitalia development TAS,IEA --
GO:0055114 oxidation-reduction process IEA --
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, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Testosterone Approved, Investigational Pharma Endogenous androgen receptor agonist 563
Androstenedione Experimental, Illicit Pharma 0
androstenediol Experimental, Illicit Pharma 0
NADH Nutra Target 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
nadph
  • 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
53-57-6
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8
Testosterone sulfate
  • 17-O-Sulfotestosterone
  • 17beta-(Sulfooxy)androst-4-en-3-one
  • Testosterone 17-sulfate
  • Testosterone 17-sulphate
  • Testosterone 17b-sulfate
651-45-6

(1) ApexBio Compounds for HSD17B3 Gene

Compound Action Cas Number
TC HSD 21 330203-01-5
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

Inhibitory RNA Products

Clone Products

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 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, PaxDb, 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:

HSD17B3

SOURCE GeneReport for Unigene cluster for HSD17B3 Gene:

Hs.477

mRNA Expression by UniProt/SwissProt for HSD17B3 Gene:

P37058-DHB3_HUMAN
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
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • head
  • hypothalamus
  • neck
  • pituitary gland
  • thyroid
Thorax:
  • breast
  • heart
  • lung
Abdomen:
  • intestine
  • large intestine
  • small intestine
Pelvis:
  • ovary
  • penis
  • testicle
  • urethra
  • uterus
  • vagina
  • vulva
General:
  • blood
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with HSD17B3: view

Primer 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 34 35
  • 99.46 (n)
cow
(Bos Taurus)
Mammalia HSD17B3 34 35
  • 84.62 (n)
dog
(Canis familiaris)
Mammalia HSD17B3 34 35
  • 83.06 (n)
rat
(Rattus norvegicus)
Mammalia Hsd17b3 34
  • 78.87 (n)
mouse
(Mus musculus)
Mammalia Hsd17b3 34 16 35
  • 78.03 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 55 (a)
OneToMany
-- 35
  • 51 (a)
OneToMany
chicken
(Gallus gallus)
Aves ZNF367 34
  • 67.11 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia hsd17b3 34
  • 64.34 (n)
zebrafish
(Danio rerio)
Actinopterygii hsd17b3 34 35
  • 59.65 (n)
-- 34
fruit fly
(Drosophila melanogaster)
Insecta CG6012 36
  • 34 (a)
worm
(Caenorhabditis elegans)
Secernentea C06B3.4 36
  • 37 (a)
F11A5.12 36
  • 36 (a)
C06B3.5 36
  • 35 (a)
F25G6.5 36
  • 35 (a)
dhs-27 35
  • 28 (a)
OneToMany
dhs-5 35
  • 21 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IFA38 35
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 38 (a)
ManyToMany
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

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

Paralogs for HSD17B3 Gene

Paralogs for HSD17B3 Gene

(2) 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
rs115063639 Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] 96,244,356(+) TTATA(A/C/T)TCCTC upstream-variant-2KB, reference, synonymous-codon, missense
rs119481074 Pathogenic, Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] 96,240,877(-) CTGCA(A/G)TGACA reference, missense, utr-variant-3-prime
rs119481075 Pathogenic, Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] 96,254,906(-) TAGCC(A/G)GACGC intron-variant, reference, missense, utr-variant-5-prime
rs119481076 Pathogenic, Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] 96,244,393(-) CCAGG(A/C/T)GTTTG upstream-variant-2KB, reference, missense
rs119481077 Pathogenic, Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300] 96,254,907(-) TTAGC(C/T)GGACG intron-variant, reference, missense, utr-variant-5-prime

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)

Relevant External Links for HSD17B3 Gene

Human Gene Mutation Database (HGMD)
HSD17B3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HSD17B3

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: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
pseudohermaphroditism, male, with gynecomastia
  • 17-beta hydroxysteroid dehydrogenase iii deficiency
gynecomastia
pseudohermaphroditism
  • indeterminate sex and pseudohermaphroditism
leydig cell hypoplasia
  • 46,xy disorder of sex development due to lh defects
hypospadias
  • familial hypospadias
- elite association - COSMIC cancer census association via MalaCards

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: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

Relevant External Links for HSD17B3

Genetic Association Database (GAD)
HSD17B3
Human Genome Epidemiology (HuGE) Navigator
HSD17B3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HSD17B3
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. (J. Clin. Endocrinol. Metab. 2001) 3 4 22 25 64
  2. 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 22 64
  3. 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 22 46 64
  4. 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 22 64
  5. 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 22 64

Products for HSD17B3 Gene

Sources for HSD17B3 Gene

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