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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
  • 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
  • Short Chain Dehydrogenase/Reductase Family 11E, Member 2 3
  • Short Chain Dehydrogenase/Reductase Family 11E 2
  • 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
  • Member 2 2
  • 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 Metabolism of steroid hormones and Prostate Cancer. GO annotations related to this gene include oxidoreductase activity and coenzyme binding. An important paralog of this gene is NSDHL.

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 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 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 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

Proteomics data for HSD3B2 Gene at MOPED

Post-translational modifications for HSD3B2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HSD3B2 Gene

Antibody Products

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.
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

miRNA for HSD3B2 Gene

miRTarBase miRNAs that target HSD3B2

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for HSD3B2 Gene COMPARTMENTS Subcellular localization image for HSD3B2 gene
Compartment Confidence
endoplasmic reticulum 5
mitochondrion 5
plasma membrane 2
lysosome 1
nucleus 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for HSD3B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031966 mitochondrial membrane NAS 1944309
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.

Interacting Proteins for HSD3B2 Gene

Gene Ontology (GO) - Biological Process for HSD3B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006694 steroid biosynthetic process IEA,IDA 1944309
GO:0006702 androgen biosynthetic process TAS --
GO:0044281 small molecule metabolic process TAS --
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, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Trilostane Approved, Investigational, Withdrawn Pharma inhibitor, Target 2
Progesterone Approved Pharma Full agonist, Activator Endogenous progesterone receptor agonist 511
Testosterone Approved, Investigational Pharma Endogenous androgen receptor agonist 519
Corticotropin Approved Pharma Enzyme, inducer 0
Medroxyprogesterone Acetate Approved, Investigational Pharma Enzyme, inhibitor Steroidal progestin 138

(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
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:

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 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



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.
genes like me logo Genes that share expression patterns with HSD3B2: view

Protein tissue co-expression partners for HSD3B2 Gene

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
cow
(Bos Taurus)
Mammalia HSD3B1 35
  • 81.13 (n)
  • 78.17 (a)
HSD3B 36
  • 78 (a)
OneToMany
dog
(Canis familiaris)
Mammalia HSD3B2 35
  • 83.02 (n)
  • 80.59 (a)
HSD3B 36
  • 79 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Hsd3b1 35
  • 76.46 (n)
  • 70.89 (a)
Hsd3b1 16
Gm10681 36
  • 67 (a)
ManyToMany
Gm4450 36
  • 66 (a)
ManyToMany
Hsd3b1 36
  • 71 (a)
ManyToMany
Hsd3b2 36
  • 71 (a)
ManyToMany
Hsd3b3 36
  • 70 (a)
ManyToMany
Hsd3b4 36
  • 67 (a)
ManyToMany
Hsd3b5 36
  • 67 (a)
ManyToMany
Hsd3b6 36
  • 70 (a)
ManyToMany
chimpanzee
(Pan troglodytes)
Mammalia HSD3B2 35
  • 99.1 (n)
  • 98.92 (a)
HSD3B2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hsd3b6 35
  • 78.08 (n)
  • 73.32 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 33 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 50 (a)
OneToMany
chicken
(Gallus gallus)
Aves HSD3B2 35
  • 61.52 (n)
  • 56.91 (a)
HSD3B2 36
  • 49 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 49 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490622 35
  • 57.89 (n)
  • 51.88 (a)
zebrafish
(Danio rerio)
Actinopterygii si:rp71-68n21.10 35
  • 53.02 (n)
  • 46.8 (a)
hsd3b1 36
  • 45 (a)
ManyToMany
hsd3b2 36
  • 44 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006654 35
  • 41.42 (n)
  • 29.29 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7724 35
  • 45.69 (n)
  • 31.46 (a)
CG7724 36
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C32D5.12 36
  • 18 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG26 36
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 31 (a)
OneToMany
Species with no ortholog for HSD3B2:
  • 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
VAR_000006 Adrenal hyperplasia 2 (AH2)
VAR_000007 Adrenal hyperplasia 2 (AH2)
VAR_000008 Adrenal hyperplasia 2 (AH2)
VAR_000009 Adrenal hyperplasia 2 (AH2)
VAR_000010 Adrenal hyperplasia 2 (AH2)

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

Variant ID Type Subtype PubMed ID
nsv524681 CNV Gain 19592680
esv34089 CNV Loss 18971310
nsv2599 CNV Loss 18451855
esv2716762 CNV Deletion 23290073

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

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

Disorders for HSD3B2 Gene

MalaCards: The human disease database

(10) 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 deficiency
3-beta-hydroxysteroid dehydrogenase-deficient congenital adrenal hyperplasia
  • 3 beta hydroxysteroid dehydrogenase-deficient congenital adrenal hyperplasia
congenital adrenal hyperplasia
  • adrenal hyperplasia 1
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. Congenital adrenal hyperplasia due to point mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene. (PMID: 1363812) Rheaume E. … Labrie F. (Nat. Genet. 1992) 2 3 4 67
  2. The orphan nuclear receptor NGFIB regulates transcription of 3beta-hydroxysteroid dehydrogenase. implications for the control of adrenal functional zonation. (PMID: 15208301) Bassett M.H. … Rainey W.E. (J. Biol. Chem. 2004) 3 23 25
  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. The nuclear receptors SF1 and LRH1 are expressed in endometrial cancer cells and regulate steroidogenic gene transcription by cooperating with AP-1 factors. (PMID: 19022561) DubAc C. … Tremblay J.J. (Cancer Lett. 2009) 3 23
  5. The farnesoid X receptor regulates transcription of 3beta-hydroxysteroid dehydrogenase type 2 in human adrenal cells. (PMID: 19059462) Xing Y. … Rainey W.E. (Mol. Cell. Endocrinol. 2009) 3 23

Products for HSD3B2 Gene

Sources for HSD3B2 Gene

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