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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
  • 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
  • 3 Beta-Hydroxysteroid Dehydrogenase/Delta 5-->4-Isomerase Type 2 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 and Metabolism. GO annotations related to this gene include 3-beta-hydroxy-delta5-steroid dehydrogenase activity and steroid delta-isomerase activity. 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

Genomic Location for HSD3B2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for HSD3B2 Gene

Domains for HSD3B2 Gene

Gene Families for HSD3B2 Gene

HGNC:
  • SDRE :Short chain dehydrogenase/reductase superfamily / Extended SDR fold

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 :
  • P26439
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:0003824 catalytic activity --
GO:0003854 3-beta-hydroxy-delta5-steroid dehydrogenase activity IDA 1944309
GO:0004769 steroid delta-isomerase activity IDA 1944309
GO:0016491 oxidoreductase activity --
GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor --
genes like me logo Genes that share ontologies with HSD3B2: view

Phenotypes for HSD3B2 Gene

GenomeRNAi human phenotypes for HSD3B2:
genes like me logo Genes that share phenotypes with HSD3B2: view

Animal Model Products

CRISPR Products

miRNA for HSD3B2 Gene

miRTarBase miRNAs that target HSD3B2

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
nucleus 2
plasma membrane 2
lysosome 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for HSD3B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005743 mitochondrial inner membrane ISS --
GO:0005758 mitochondrial intermembrane space ISS --
GO:0005783 endoplasmic reticulum NAS 1944309
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016021 integral component of membrane NAS 1944309
genes like me logo Genes that share ontologies with HSD3B2: view

Pathways 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 IDA 1944309
GO:0006702 androgen biosynthetic process TAS --
GO:0006704 glucocorticoid biosynthetic process TAS --
GO:0006705 mineralocorticoid biosynthetic process TAS --
GO:0008152 metabolic process --
genes like me logo Genes that share ontologies with HSD3B2: view

Compounds for HSD3B2 Gene

(23) HMDB Compounds for HSD3B2 Gene

Compound Synonyms Cas Number PubMed IDs
11b,17a,21-Trihydroxypreg-nenolone
  • 11beta,17alpha,21-Trihydroxypregnenolone
Not Available
16a-Hydroxyandrost-4-ene-3,17-dione
  • 4-Androsten-16alpha-ol-3,17-dione
63-02-5
16a-Hydroxydehydroisoandrosterone
  • 16-Hydroxydehydroandrosterone
1232-73-1
17a,21-Dihydroxypreg-nenolone
  • 17alpha,21-Dihydroxypregnenolone
1167-48-2
17a-Hydroxypregnenolone
  • 17-Hydroxy-D5-pregnenolone
387-79-1

(4) Drugbank Compounds for HSD3B2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Corticotropin
  • ACTH
9002-60-2 enzyme inducer
Medroxyprogesterone
  • CBP-1011
520-85-4 enzyme inhibitor
NADH
  • beta-DPNH
606-68-8 target
Trilostane
13647-35-3 target inhibitor

(17) Novoseek inferred chemical compound relationships for HSD3B2 Gene

Compound -log(P) Hits PubMed IDs
3beta-hydroxysteroid 94.9 45
17-hydroxypregnenolone 82.5 2
dhea 79.4 10
dehydroepiandrosterone sulfate 69.4 1
steroid 66 9
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

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HSD3B2

Primer 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 for HSD3B2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Adrenal Gland (51.8).

Integrated Proteomics: protein expression 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 expressions with HSD3B2: view

In Situ Assay 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 35
  • 99.1 (n)
  • 98.92 (a)
HSD3B2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HSD3B 36
  • 78 (a)
OneToMany
HSD3B1 35
  • 81.13 (n)
  • 78.17 (a)
dog
(Canis familiaris)
Mammalia HSD3B 36
  • 79 (a)
OneToMany
HSD3B2 35
  • 83.02 (n)
  • 80.59 (a)
mouse
(Mus musculus)
Mammalia Gm10681 36
  • 67 (a)
ManyToMany
Gm4450 36
  • 66 (a)
ManyToMany
Hsd3b1 35
  • 76.46 (n)
  • 70.89 (a)
Hsd3b1 16
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
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 33 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 50 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Hsd3b6 35
  • 78.08 (n)
  • 73.32 (a)
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 hsd3b1 36
  • 45 (a)
ManyToMany
hsd3b2 36
  • 44 (a)
ManyToMany
si:rp71-68n21.10 35
  • 53.02 (n)
  • 46.8 (a)
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

Selected 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 MAF
rs6207 -- 119,422,002(+) CTGGC(A/G)GCTAA synonymous-codon, reference
rs6208 -- 119,415,388(+) CCTGG(C/T)AAGTG utr-variant-5-prime
rs6211 - 119,419,555(+) ACAGA(C/G)AGTCC missense, reference
rs714748 -- 119,415,260(-) TACAA(A/C/G)AATTC intron-variant
rs1361530 -- 119,422,941(-) TTTAA(C/G)AGGGG utr-variant-3-prime

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

Relevant External Links for HSD3B2 Gene

HapMap Linkage Disequilibrium report
HSD3B2
Human Gene Mutation Database (HGMD)
HSD3B2
Locus Specific Mutation Databases (LSDB)
HSD3B2

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

Disorders for HSD3B2 Gene

(1) OMIM Diseases for HSD3B2 Gene (613890)

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}.

(1) University of Copenhagen DISEASES for HSD3B2 Gene

(9) Novoseek inferred disease relationships for HSD3B2 Gene

Disease -log(P) Hits PubMed IDs
adrenal hyperplasia congenital 80.5 10
pseudohermaphroditism 72.3 1
virilization 69.4 4
pseudohermaphroditism male 66.2 1
hyperandrogenism 55.4 1

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

Publications for HSD3B2 Gene

  1. Mutation in the human gene for 3 beta-hydroxysteroid dehydrogenase type II leading to male pseudohermaphroditism without salt loss. (PMID: 8060486) Russell A.J. … Sutcliffe R.G. (J. Mol. Endocrinol. 1994) 3 4 23
  2. Mutation in 3 beta-hydroxysteroid dehydrogenase type II associated with pseudohermaphroditism in males and premature pubarche or cryptic expression in females. (PMID: 8185809) Mendonca B.B. … Wallace A.M. (J. Mol. Endocrinol. 1994) 3 4 23
  3. New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene in eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes. (PMID: 10599696) Moisan A.M. … Simard J. (J. Clin. Endocrinol. Metab. 1999) 3 4 23
  4. Mutations in the type II 3beta-hydroxysteroid dehydrogenase (HSD3B2) gene can cause premature pubarche in girls. (PMID: 10651755) Marui S. … Mendonca B.B. (Clin. Endocrinol. (Oxf.) 2000) 3 4 23
  5. Joint effect of HSD3B1 and HSD3B2 genes is associated with hereditary and sporadic prostate cancer susceptibility. (PMID: 11912155) Chang B.L. … Xu J. (Cancer Res. 2002) 3 23 48

Products for HSD3B2 Gene

Sources for HSD3B2 Gene

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