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Aliases for HSD3B2 Gene

Aliases for HSD3B2 Gene

  • Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid Delta-Isomerase 2 2 3 5
  • 3 Beta-Hydroxysteroid Dehydrogenase/Delta 5-->4-Isomerase Type II 3 4
  • Short Chain Dehydrogenase/Reductase Family 11E, Member 2 2 3
  • 3-Beta-HSD Adrenal And Gonadal Type 3 4
  • 3-Beta-HSD II 3 4
  • 3 Beta-Hydroxysteroid Dehydrogenase Type II, Delta 5-Delta 4-Isomerase Type II, 3 Beta-HSD Type II 3
  • 3 Beta-Hydroxysteroid Dehydrogenase/Delta 5-->4-Isomerase Type 2 3
  • 3-Beta-Hydroxy-Delta(5)-Steroid Dehydrogenase 3
  • 3-Beta-Hydroxy-5-Ene Steroid Dehydrogenase 3
  • Delta 5-Delta 4-Isomerase Type II 3
  • Progesterone Reductase 3
  • 3 Beta-HSD Type II 3
  • SDR11E2 3
  • HSDB3B 4
  • HSD3B 3
  • HSDB 3

External Ids for HSD3B2 Gene

Previous GeneCards Identifiers for HSD3B2 Gene

  • GC01P120404
  • GC01P118795
  • GC01P119104
  • GC01P119305
  • GC01P119306
  • GC01P119669
  • GC01P119759
  • GC01P119957
  • GC01P117816

Summaries for HSD3B2 Gene

Entrez Gene Summary for HSD3B2 Gene

  • The protein encoded by this gene is a bifunctional enzyme that catalyzes the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. It plays a crucial role in the biosynthesis of all classes of hormonal steroids. This gene is predominantly expressed in the adrenals and the gonads. Mutations in this gene are associated with 3-beta-hydroxysteroid dehydrogenase, type II, deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009]

GeneCards Summary for HSD3B2 Gene

HSD3B2 (Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid Delta-Isomerase 2) is a Protein Coding gene. Diseases associated with HSD3B2 include 3-Beta-Hydroxysteroid Dehydrogenase, Type Ii, Deficiency and 3-Beta-Hydroxysteroid Dehydrogenase-Deficient Congenital Adrenal Hyperplasia. Among its related pathways are Insulin secretion and Metabolism of steroid hormones. GO annotations related to this gene include oxidoreductase activity and coenzyme binding. An important paralog of this gene is HSD3B1.

UniProtKB/Swiss-Prot for HSD3B2 Gene

  • 3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of Delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids.

Gene Wiki entry for HSD3B2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HSD3B2 Gene

Genomics for HSD3B2 Gene

Regulatory Elements for HSD3B2 Gene

Enhancers for HSD3B2 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
GH01G119451 0.5 ENCODE 11.7 +37.5 37493 1.2 HNF4G HNF4A RAD21 HSD3B2 LOC101929147 HSD3BP2 GAPDHP23
GH01G119450 0.5 ENCODE 11.7 +35.3 35282 0.2 CTCF HMBOX1 RAD21 HSD3B2 GAPDHP23 HSD3BP2
GH01G119453 0.2 ENCODE 11.7 +38.3 38262 0.2 HSD3B2 GAPDHP23 HSD3BP2
GH01G119428 0.8 ENCODE 0.4 +14.4 14400 2.4 INSM2 FEZF1 HIC1 ZNF316 ZNF366 SCRT2 ZNF169 ZSCAN5C MAFK SCRT1 HAO2-IT1 HAO2 GAPDHP74 HSD3B2
GH01G119431 0.7 ENCODE 0.4 +16.8 16809 1.4 DPF2 MNT RAD21 FOXA1 CTBP1 GATA3 ATF3 SCRT2 FOS HNF4A HAO2-IT1 HAO2 GAPDHP74 HSD3B2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HSD3B2 on UCSC Golden Path with GeneCards custom track

Genomic Location for HSD3B2 Gene

Chromosome:
1
Start:
119,414,931 bp from pter
End:
119,423,039 bp from pter
Size:
8,109 bases
Orientation:
Plus strand

Genomic View for HSD3B2 Gene

Genes around HSD3B2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HSD3B2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HSD3B2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSD3B2 Gene

Proteins for HSD3B2 Gene

  • Protein details for HSD3B2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P26439-3BHS2_HUMAN
    Recommended name:
    3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2
    Protein Accession:
    P26439
    Secondary Accessions:
    • A2RRA5
    • Q16010
    • Q53GD4
    • Q6AI10
    • Q6LDB9
    • Q99890
    • Q9UD08

    Protein attributes for HSD3B2 Gene

    Size:
    372 amino acids
    Molecular mass:
    42052 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAC60600.1; Type=Frameshift; Positions=186; Note=The frameshift is caused by a single nucleotide insertion which is found in AH2.; Evidence={ECO:0000305};

    Alternative splice isoforms for HSD3B2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HSD3B2 Gene

Post-translational modifications for HSD3B2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HSD3B2 Gene

Antibody Products

  • Abcam antibodies for HSD3B2

No data available for DME Specific Peptides for HSD3B2 Gene

Domains & Families for HSD3B2 Gene

Gene Families for HSD3B2 Gene

Protein Domains for HSD3B2 Gene

Suggested Antigen Peptide Sequences for HSD3B2 Gene

Graphical View of Domain Structure for InterPro Entry

P26439

UniProtKB/Swiss-Prot:

3BHS2_HUMAN :
  • Belongs to the 3-beta-HSD family.
Family:
  • Belongs to the 3-beta-HSD family.
genes like me logo Genes that share domains with HSD3B2: view

Function for HSD3B2 Gene

Molecular function for HSD3B2 Gene

GENATLAS Biochemistry:
hydroxysteroid 3-beta,dehydrogenase/steroid delta5-delta4 isomerase,type II,microsomal,expressed in adrenals and gonads,initiating the pathways of mineralocorticoid glucocorticoid and sex hormone biosynthesis
UniProtKB/Swiss-Prot CatalyticActivity:
A 3-beta-hydroxy-Delta(5)-steroid + NAD(+) = a 3-oxo-Delta(5)-steroid + NADH.
UniProtKB/Swiss-Prot CatalyticActivity:
A 3-oxo-Delta(5)-steroid = a 3-oxo-Delta(4)-steroid.
UniProtKB/Swiss-Prot Function:
3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of Delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids.

Gene Ontology (GO) - Molecular Function for HSD3B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003854 3-beta-hydroxy-delta5-steroid dehydrogenase activity TAS --
GO:0004769 steroid delta-isomerase activity TAS --
GO:0016491 oxidoreductase activity IEA --
GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IEA --
GO:0016853 isomerase activity IEA --
genes like me logo Genes that share ontologies with HSD3B2: view
genes like me logo Genes that share phenotypes with HSD3B2: view

Human Phenotype Ontology for HSD3B2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for HSD3B2 Gene

miRTarBase miRNAs that target HSD3B2

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for HSD3B2 Gene

Localization for HSD3B2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HSD3B2 Gene

Endoplasmic reticulum membrane; Single-pass membrane protein. Mitochondrion membrane; Single-pass membrane protein.

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 HSD3B2 gene
Compartment Confidence
mitochondrion 5
endoplasmic reticulum 5
plasma membrane 2
peroxisome 1
nucleus 1
lysosome 1

Gene Ontology (GO) - Cellular Components for HSD3B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane ISS --
GO:0005758 mitochondrial intermembrane space ISS --
GO:0005783 endoplasmic reticulum NAS 1944309
GO:0005789 endoplasmic reticulum membrane TAS --
genes like me logo Genes that share ontologies with HSD3B2: view

Pathways & Interactions for HSD3B2 Gene

genes like me logo Genes that share pathways with HSD3B2: view

UniProtKB/Swiss-Prot P26439-3BHS2_HUMAN

  • Pathway: Lipid metabolism; steroid biosynthesis.

Gene Ontology (GO) - Biological Process for HSD3B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006694 steroid biosynthetic process IDA 1944309
GO:0006702 androgen biosynthetic process TAS --
GO:0006704 glucocorticoid biosynthetic process TAS --
GO:0006705 mineralocorticoid biosynthetic process TAS --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with HSD3B2: view

No data available for SIGNOR curated interactions for HSD3B2 Gene

Drugs & Compounds for HSD3B2 Gene

(19) Drugs for HSD3B2 Gene - From: DrugBank, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Trilostane Approved, Investigational, Vet_approved, Withdrawn Pharma inhibitor, Target 2
Progesterone Approved, Vet_approved Pharma Full agonist, Activator Endogenous progesterone receptor agonist 559
Testosterone Approved, Investigational Pharma Endogenous androgen receptor agonist 563
Corticotropin Approved, Vet_approved Pharma Enzyme, inducer 0
Medroxyprogesterone acetate Approved, Investigational Pharma Enzyme, inhibitor Steroidal progestin 148

(21) Additional Compounds for HSD3B2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
11b,17a,21-Trihydroxypreg-nenolone
  • 11beta,17alpha,21-Trihydroxypreg-nenolone
  • 11beta,17alpha,21-Trihydroxypregnenolone
16a-Hydroxyandrost-4-ene-3,17-dione
  • 16alpha-Hydroxyandrost-4-ene-3,17-dione
  • 4-Androsten-16alpha-ol-3,17-dione
63-02-5
16a-Hydroxydehydroisoandrosterone
  • 16 alpha-Hydroxy-dehydroepiandrosterone
  • 16-Hydroxydehydroandrosterone
  • 16-Hydroxydehydroepiandrosterone
  • 16a-Hydroxy-DHEA
  • 16a-Hydroxydehydroandrosterone
1232-73-1
17a,21-Dihydroxypreg-nenolone
  • 17alpha,21-Dihydroxypreg-nenolone
  • 17alpha,21-Dihydroxypregnenolone
1167-48-2
17a-Hydroxypregnenolone
  • 17-Hydroxy-D5-pregnenolone
  • 17-Hydroxypregnenolone
  • 17-OH-pregnenolone
  • 17a-Hydroxypregnolone
  • 17alpha-Hydroxypregnanolone
387-79-1

(1) ApexBio Compounds for HSD3B2 Gene

Compound Action Cas Number
Trilostane 13647-35-3
genes like me logo Genes that share compounds with HSD3B2: view

Transcripts for HSD3B2 Gene

Unigene Clusters for HSD3B2 Gene

Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HSD3B2 Gene

No ASD Table

Relevant External Links for HSD3B2 Gene

GeneLoc Exon Structure for
HSD3B2
ECgene alternative splicing isoforms for
HSD3B2

Expression for HSD3B2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HSD3B2 Gene

mRNA differential expression in normal tissues according to GTEx for HSD3B2 Gene

This gene is overexpressed in Adrenal Gland (x51.8).

Protein differential expression in normal tissues from HIPED for HSD3B2 Gene

This gene is overexpressed in Adrenal (64.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for HSD3B2 Gene



Protein tissue co-expression partners for HSD3B2 Gene

NURSA nuclear receptor signaling pathways regulating expression of HSD3B2 Gene:

HSD3B2

SOURCE GeneReport for Unigene cluster for HSD3B2 Gene:

Hs.654399

mRNA Expression by UniProt/SwissProt for HSD3B2 Gene:

P26439-3BHS2_HUMAN
Tissue specificity: Expressed in adrenal gland, testis and ovary.

Evidence on tissue expression from TISSUES for HSD3B2 Gene

  • Adrenal gland(4.8)
  • Nervous system(4.2)
  • Intestine(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HSD3B2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • endocrine
  • integumentary
  • reproductive
  • urinary
Organs:
Abdomen:
  • adrenal gland
Pelvis:
  • ovary
  • penis
  • testicle
  • urethra
  • vagina
General:
  • skin
genes like me logo Genes that share expression patterns with HSD3B2: view

Primer Products

Orthologs for HSD3B2 Gene

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

Orthologs for HSD3B2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HSD3B2 34 35
  • 99.1 (n)
dog
(Canis familiaris)
Mammalia HSD3B2 34
  • 83.02 (n)
HSD3B 35
  • 79 (a)
OneToMany
cow
(Bos Taurus)
Mammalia HSD3B1 34
  • 81.13 (n)
HSD3B 35
  • 78 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia LOC100911154 34
  • 78.08 (n)
mouse
(Mus musculus)
Mammalia Hsd3b1 34 16 35
  • 76.46 (n)
Hsd3b2 35
  • 71 (a)
ManyToMany
Hsd3b3 35
  • 70 (a)
ManyToMany
Hsd3b6 35
  • 70 (a)
ManyToMany
Gm10681 35
  • 67 (a)
ManyToMany
Hsd3b4 35
  • 67 (a)
ManyToMany
Hsd3b5 35
  • 67 (a)
ManyToMany
Gm4450 35
  • 66 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 50 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 33 (a)
OneToMany
chicken
(Gallus gallus)
Aves HSD3B2 34 35
  • 61.52 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 49 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490622 34
  • 57.89 (n)
zebrafish
(Danio rerio)
Actinopterygii si:rp71-68n21.10 34
  • 53.02 (n)
hsd3b1 35
  • 45 (a)
ManyToMany
hsd3b2 35
  • 44 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG7724 34 35
  • 45.69 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006654 34
  • 41.42 (n)
worm
(Caenorhabditis elegans)
Secernentea C32D5.12 35
  • 18 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG26 35
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 31 (a)
OneToMany
Species where no ortholog for HSD3B2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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 HSD3B2 Gene

ENSEMBL:
Gene Tree for HSD3B2 (if available)
TreeFam:
Gene Tree for HSD3B2 (if available)

Paralogs for HSD3B2 Gene

Paralogs for HSD3B2 Gene

(4) SIMAP similar genes for HSD3B2 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for HSD3B2 Gene

genes like me logo Genes that share paralogs with HSD3B2: view

Variants for HSD3B2 Gene

Sequence variations from dbSNP and Humsavar for HSD3B2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs121964897 Pathogenic, Adrenal hyperplasia 2 (AH2) [MIM:201810] 119,422,523(+) TAAGC(C/T)ACTCT reference, missense
rs28934880 Pathogenic, Adrenal hyperplasia 2 (AH2) [MIM:201810] 119,415,448(+) AGGAG(A/C)AGGAG reference, missense
rs35486059 Adrenal hyperplasia 2 (AH2) [MIM:201810] 119,422,001(+) GCTGG(C/T)GGCTA reference, missense
rs35887327 Uncertain significance, Adrenal hyperplasia 2 (AH2) [MIM:201810] 119,422,208(+) GGCCT(C/T)GAGGG reference, missense
rs587628683 Adrenal hyperplasia 2 (AH2) [MIM:201810] 119,421,886(+) TAGCC(A/G)GGCCC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for HSD3B2 Gene

Variant ID Type Subtype PubMed ID
esv2716762 CNV deletion 23290073
esv2763647 CNV gain+loss 21179565
esv34089 CNV loss 18971310
nsv1004662 CNV gain 25217958
nsv2599 CNV deletion 18451855
nsv524681 CNV gain 19592680
nsv946176 CNV duplication 23825009

Variation tolerance for HSD3B2 Gene

Residual Variation Intolerance Score: 51.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.09; 38.17% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HSD3B2 Gene

Human Gene Mutation Database (HGMD)
HSD3B2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HSD3B2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSD3B2 Gene

Disorders for HSD3B2 Gene

MalaCards: The human disease database

(9) MalaCards diseases for HSD3B2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
3-beta-hydroxysteroid dehydrogenase, type ii, deficiency
  • 3-beta-hydroxysteroid dehydrogenase, type ii, deficiency of
3-beta-hydroxysteroid dehydrogenase-deficient congenital adrenal hyperplasia
  • 3 beta hydroxysteroid dehydrogenase-deficient congenital adrenal hyperplasia
congenital adrenal hyperplasia
  • lipoid congenital adrenal hyperplasia
pseudohermaphroditism
  • indeterminate sex and pseudohermaphroditism
hyperandrogenism
  • hyperandrogenization syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

3BHS2_HUMAN
  • Adrenal hyperplasia 2 (AH2) [MIM:201810]: A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: salt wasting (SW, the most severe type), simple virilizing (SV, less severely affected patients), with normal aldosterone biosynthesis, non-classic form or late-onset (NC or LOAH) and cryptic (asymptomatic). In AH2, virilization is much less marked or does not occur. AH2 is frequently lethal in early life. {ECO:0000269 PubMed:10599696, ECO:0000269 PubMed:10651755, ECO:0000269 PubMed:10843183, ECO:0000269 PubMed:12050213, ECO:0000269 PubMed:18252794, ECO:0000269 PubMed:22579964, ECO:0000269 PubMed:7608265, ECO:0000269 PubMed:7633426, ECO:0000269 PubMed:7633460, ECO:0000269 PubMed:7833923, ECO:0000269 PubMed:7893703, ECO:0000269 PubMed:7962268, ECO:0000269 PubMed:8060486, ECO:0000269 PubMed:8126127, ECO:0000269 PubMed:8185809, ECO:0000269 PubMed:8316254, ECO:0000269 PubMed:9719627}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Mild HSD3B2 deficiency in hyperandrogenic females is associated with characteristic traits of polycystic ovary syndrome, such as insulin resistance and luteinizing hormone hypersecretion. {ECO:0000269 PubMed:14764797}.

Genatlas disease for HSD3B2 Gene

adrenal hyperplasia II (3-beta-hydroxysteroid dehydrogenase deficiency),male pseudohermaphroditism,with or without salt losing

Relevant External Links for HSD3B2

Genetic Association Database (GAD)
HSD3B2
Human Genome Epidemiology (HuGE) Navigator
HSD3B2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HSD3B2
genes like me logo Genes that share disorders with HSD3B2: view

Publications for HSD3B2 Gene

  1. Single and multigenic analysis of the association between variants in 12 steroid hormone metabolism genes and risk of prostate cancer. (PMID: 19505920) Beuten J. … Leach R.J. (Cancer Epidemiol. Biomarkers Prev. 2009) 3 22 46 64
  2. Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia. (PMID: 18252794) Welzel M. … Riepe F.G. (J. Clin. Endocrinol. Metab. 2008) 3 4 22 64
  3. Evaluation of genetic variations in the androgen and estrogen metabolic pathways as risk factors for sporadic and familial prostate cancer. (PMID: 17507624) Cunningham J.M. … Thibodeau S.N. (Cancer Epidemiol. Biomarkers Prev. 2007) 3 22 46 64
  4. Variant in sex hormone-binding globulin gene and the risk of prostate cancer. (PMID: 17220347) Berndt S.I. … Hayes R.B. (Cancer Epidemiol. Biomarkers Prev. 2007) 3 22 46 64
  5. SRD5A2 and HSD3B2 polymorphisms are associated with prostate cancer risk and aggressiveness. (PMID: 17823934) Neslund-Dudas C. … Rybicki B.A. (Prostate 2007) 3 22 46 64

Products for HSD3B2 Gene

Sources for HSD3B2 Gene

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