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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 3
  • Short Chain Dehydrogenase/Reductase Family 12C 2
  • Hydroxysteroid 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 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 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

Enhancers for HSD17B3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

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:
REFSEQ proteins:

Antibody Products

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

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

No data available for Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for HSD17B3 Gene COMPARTMENTS Subcellular localization image for HSD17B3 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 2
cytosol 1
lysosome 1
mitochondrion 1
nucleus 1
peroxisome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for HSD17B3 Gene

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:0006702 androgen biosynthetic process TAS --
GO:0008152 metabolic process IEA --
GO:0044281 small molecule metabolic process TAS --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Testosterone Approved, Investigational Pharma Endogenous androgen receptor agonist 519
Androstenedione Experimental, Illicit Pharma 0
5-Androstenediol Experimental, Illicit Pharma 0
NADH Nutra Target 0

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

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
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:

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 (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



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 expression patterns with HSD17B3: view

Protein tissue co-expression partners for HSD17B3 Gene

- Elite partner

Primer Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia HSD17B3 35
  • 99.46 (n)
  • 98.71 (a)
HSD17B3 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hsd17b3 35
  • 78.87 (n)
  • 74.18 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 51 (a)
OneToMany
-- 36
  • 55 (a)
OneToMany
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 C06B3.4 37
  • 37 (a)
C06B3.5 37
  • 35 (a)
F11A5.12 37
  • 36 (a)
F25G6.5 37
  • 35 (a)
dhs-27 36
  • 28 (a)
OneToMany
dhs-5 36
  • 21 (a)
OneToMany
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

(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
VAR_006953 Male pseudohermaphrodism with gynecomastia (MPH)
VAR_006954 Male pseudohermaphrodism with gynecomastia (MPH)
VAR_006955 Male pseudohermaphrodism with gynecomastia (MPH)
rs28939085 Male pseudohermaphrodism with gynecomastia (MPH) 96,240,885(-) TGTCT(C/T)GACTG reference, missense, utr-variant-3-prime
VAR_006957 Male pseudohermaphrodism with gynecomastia (MPH)

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

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

HapMap Linkage Disequilibrium report
HSD17B3
Human Gene Mutation Database (HGMD)
HSD17B3

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

Disorders for HSD17B3 Gene

MalaCards: The human disease database

(7) MalaCards diseases for HSD17B3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pseudohermaphroditism, male, with gynecomastia
  • 17-beta hydroxysteroid dehydrogenase 3 deficiency
gynecomastia
pseudohermaphroditism
  • indeterminate sex and pseudohermaphroditism
46,xy disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
  • 17-beta-hydroxysteroid dehydrogenase 3 deficiency
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. 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 67
  2. Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency. (PMID: 11158067) Lindqvist A. … Andersson S. (J. Clin. Endocrinol. Metab. 2001) 3 23 26
  3. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B. … Oppermann U. (Chem. Biol. Interact. 2009) 2 3
  4. 17beta-hydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphrodite. (PMID: 17509588) Mains L.M. … Rock J.A. (Fertil. Steril. 2008) 3 23
  5. Phenotypic variability in 17beta-hydroxysteroid dehydrogenase-3 deficiency and diagnostic pitfalls. (PMID: 17466011) Lee Y.S. … Hughes I.A. (Clin. Endocrinol. (Oxf) 2007) 3 23

Products for HSD17B3 Gene

Sources for HSD17B3 Gene

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