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-b... See more...

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-Hydroxysteroid Dehydrogenase/Delta 5-->4-Isomerase Type 2 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
  • SDR11E2 2 3
  • 3 Beta-Hydroxysteroid Dehydrogenase Type II, Delta 5-Delta 4-Isomerase Type II, 3 Beta-HSD Type II 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
  • HSD3B2 5
  • 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 Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency and 3-Beta-Hydroxysteroid Dehydrogenase Deficiency. Among its related pathways are Corticotropin-releasing hormone signaling pathway and Androstenedione and testosterone biosynthesis and metabolism p.1. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and coenzyme binding. An important paralog of this gene is HSD3B1.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for HSD3B2 Gene

Genomics for HSD3B2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HSD3B2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J119415 Promoter 0.3 EPDnew 250.7 +0.2 200 0.1 HSD3B2 lnc-HSD3B2-1 HSALNG0006492 HSD3B1
GH01J119451 Enhancer 0.6 Ensembl ENCODE 11.7 +37.8 37770 1.8 YY1 RXRA HNF4A RAD21 SP1 HNF4G HSD3B2 WARS2-AS1 GAPDHP23 HSD3BP2 lnc-HSD3B2-1 HSD3B1
GH01J119450 Enhancer 0.6 Ensembl ENCODE 11.7 +35.3 35338 0.3 CTCF RAD21 HMBOX1 HSD3B2 GAPDHP23 HSD3BP2 lnc-HSD3B2-1 HSD3B1
GH01J119452 Enhancer 0.3 Ensembl 11.7 +36.1 36070 0.8 SPI1 ZNF512 HSD3B2 WARS2-AS1 GAPDHP23 HSD3BP2 lnc-HSD3B2-1 HSD3B1
GH01J119435 Enhancer 0.2 Ensembl 11.5 +20.3 20317 0.5 GAPDHP74 HSD3B2 HAO2-IT1 HAO2 LINC00622 HSD3BP2 lnc-HSD3B2-1 HSD3B1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HSD3B2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HSD3B2

Top Transcription factor binding sites by QIAGEN in the HSD3B2 gene promoter:
  • c-Myc
  • C/EBPalpha
  • Elk-1
  • HOXA5
  • Max1
  • Meis-1
  • Sox5
  • USF-1
  • USF1
  • YY1

Genomic Locations for HSD3B2 Gene

Latest Assembly
chr1:119,414,931-119,423,035
(GRCh38/hg38)
Size:
8,105 bases
Orientation:
Plus strand

Previous Assembly
chr1:119,957,554-119,965,657
(GRCh37/hg19 by Entrez Gene)
Size:
8,104 bases
Orientation:
Plus strand

chr1:119,957,554-119,965,658
(GRCh37/hg19 by Ensembl)
Size:
8,105 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; 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

No data available for DME Specific Peptides for HSD3B2 Gene

Domains & Families for HSD3B2 Gene

Gene Families for HSD3B2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for HSD3B2 Gene

InterPro:
Blocks:
  • 3-beta hydroxysteroid dehydrogenase/isomerase

Suggested Antigen Peptide Sequences for HSD3B2 Gene

GenScript: Design optimal peptide antigens:
  • 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type II (3BHS2_HUMAN)

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

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 3beta-hydroxy-Delta(5)-steroid + NAD(+) = a 3-oxo-Delta(5)-steroid + H(+) + NADH; Xref=Rhea:RHEA:24076, ChEBI:CHEBI:1722, ChEBI:CHEBI:15378, ChEBI:CHEBI:47907, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.145; Evidence={ECO:0000305|PubMed:25322271};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 3-oxo-Delta(5)-steroid = a 3-oxo-Delta(4)-steroid; Xref=Rhea:RHEA:14709, ChEBI:CHEBI:47907, ChEBI:CHEBI:47909; EC=5.3.3.1; Evidence={ECO:0000305|PubMed:25322271};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=NAD(+) + pregnenolone = H(+) + NADH + pregn-5-ene-3,20-dione; Xref=Rhea:RHEA:43924, ChEBI:CHEBI:15378, ChEBI:CHEBI:16581, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:63837; Evidence={ECO:0000269|PubMed:25322271};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=pregn-5-ene-3,20-dione = progesterone; Xref=Rhea:RHEA:43928, ChEBI:CHEBI:17026, ChEBI:CHEBI:63837; Evidence={ECO:0000269|PubMed:25322271};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3beta-hydroxyandrost-5-en-17-one + NAD(+) = androst-5-ene-3,17-dione + H(+) + NADH; Xref=Rhea:RHEA:43932, ChEBI:CHEBI:15378, ChEBI:CHEBI:28689, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:83865; EC=1.1.1.145; Evidence={ECO:0000269|PubMed:25322271};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=androst-5-ene-3,17-dione = androst-4-ene-3,17-dione; Xref=Rhea:RHEA:43936, ChEBI:CHEBI:16422, ChEBI:CHEBI:83865; Evidence={ECO:0000269|PubMed:25322271};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=1.84 uM for pregnenolone {ECO:0000269|PubMed:25322271}; Vmax=0.16 pmol/min/mg enzyme toward pregnenolone {ECO:0000269|PubMed:25322271};
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

Phenotypes From GWAS Catalog for HSD3B2 Gene

Gene Ontology (GO) - Molecular Function for HSD3B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0003854 3-beta-hydroxy-delta5-steroid dehydrogenase activity IMP 25322271
GO:0004769 steroid delta-isomerase activity IMP 25322271
GO:0005515 protein binding IPI 32814053
GO:0016491 oxidoreductase 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

miRNA for HSD3B2 Gene

miRTarBase miRNAs that target HSD3B2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HSD3B2

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
extracellular 4
nucleus 4
endoplasmic reticulum 4
plasma membrane 2
cytoskeleton 1
peroxisome 1
cytosol 1
lysosome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
  • Cytokinetic bridge (1)
  • Nucleoli (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HSD3B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IBA 21873635
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane ISS --
GO:0005758 mitochondrial intermembrane space ISS --
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

Pathways by source for HSD3B2 Gene

1 GeneGo (Thomson Reuters) pathway for HSD3B2 Gene
  • Androstenedione and testosterone biosynthesis and metabolism p.1

UniProtKB/Swiss-Prot P26439-3BHS2_HUMAN

  • Pathway: Lipid metabolism; steroid biosynthesis.

SIGNOR curated interactions for HSD3B2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for HSD3B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006694 steroid biosynthetic process IBA,IMP 25322271
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

Drugs & Compounds for HSD3B2 Gene

(24) 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 Target, inhibitor 2
NADH Approved Nutra Target 0
Progesterone Approved, Vet_approved Pharma Endogenous progesterone receptor agonist 805
Testosterone Approved, Investigational Pharma Endogenous androgen receptor agonist 711
Corticotropin Approved, Investigational, Vet_approved Pharma Enzyme, inducer 0

(18) 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
  • 4-Androsten-16alpha-ol-3,17-dione
  • 4-Androsten-16a-ol-3,17-dione
  • 4-Androsten-16α-ol-3,17-dione
  • 16alpha-Hydroxyandrost-4-ene-3,17-dione
  • 16alpha-Hydroxyandrostenedione
63-02-5
16a-Hydroxydehydroisoandrosterone
  • 16alpha-Hydroxydehydroisoandrosterone
  • 3beta,16alpha-Dihydroxy-androst-5-en-17-one
  • 5-Androstene-3beta,16alpha-diol-17-one
  • 16Α-hydroxydehydroisoandrosterone
  • 3b,16a-Dihydroxy-androst-5-en-17-one
1232-73-1
17a,20a-Dihydroxycholesterol
  • 17a,21-Dihydroxypregnenolone
  • 17Α,21-dihydroxypregnenolone
  • 17alpha,21-Dihydroxypreg-nenolone
  • 17, 21-Dihydroxypregnenolone
  • 3Β,17α,21-trihydroxypregnenone
1167-48-2
17a-Hydroxypregnenolone
  • (3beta)-3,17-Dihydroxypregn-5-en-20-one
  • 17-Hydroxypregnenolone
  • 5-Pregnen-3beta,17alpha-diol-20-one
  • (3b)-3,17-Dihydroxypregn-5-en-20-one
  • (3Β)-3,17-dihydroxypregn-5-en-20-one
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

Drug products for research

Transcripts for HSD3B2 Gene

mRNA/cDNA for HSD3B2 Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HSD3B2

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

No ASD Table

Relevant External Links for HSD3B2 Gene

GeneLoc Exon Structure for
HSD3B2

Expression for HSD3B2 Gene

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



Protein tissue co-expression partners for HSD3B2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.4)
  • Intestine(4.2)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • endocrine
  • integumentary
  • reproductive
  • urinary
Regions:
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 for research

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 29 30
  • 99.1 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HSD3B2 29
  • 83.02 (n)
HSD3B 30
  • 79 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia HSD3B1 29
  • 81.13 (n)
HSD3B 30
  • 78 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Hsd3b6 29
  • 78.08 (n)
Mouse
(Mus musculus)
Mammalia Hsd3b1 29 16 30
  • 76.46 (n)
ManyToMany
Hsd3b2 30
  • 71 (a)
ManyToMany
Hsd3b3 30
  • 70 (a)
ManyToMany
Hsd3b6 30
  • 70 (a)
ManyToMany
Hsd3b4 30
  • 67 (a)
ManyToMany
Hsd3b5 30
  • 67 (a)
ManyToMany
Gm10681 30
  • 67 (a)
ManyToMany
Gm4450 30
  • 66 (a)
ManyToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 50 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 33 (a)
OneToMany
Chicken
(Gallus gallus)
Aves HSD3B2 29 30
  • 61.52 (n)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 49 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100490622 29
  • 57.89 (n)
Zebrafish
(Danio rerio)
Actinopterygii si:rp71-68n21.10 29
  • 53.02 (n)
hsd3b1 30
  • 45 (a)
ManyToMany
hsd3b2 30
  • 44 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG7724 29 30
  • 45.69 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006654 29
  • 41.42 (n)
Worm
(Caenorhabditis elegans)
Secernentea C32D5.12 30
  • 18 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG26 30
  • 25 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 31 (a)
OneToMany
Species where no ortholog for HSD3B2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for HSD3B2: view image
Alliance of Genome Resources:
Additional Orthologs for HSD3B2

Paralogs for HSD3B2 Gene

Paralogs for HSD3B2 Gene

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

  • 3BHS2_HUMAN
  • Q5QP01_HUMAN

Pseudogenes.org Pseudogenes for HSD3B2 Gene

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

Variants for HSD3B2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HSD3B2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
1028127 Uncertain Significance: 3 beta-Hydroxysteroid dehydrogenase deficiency 119,422,556(+) CC/AA
NM_000198.4(HSD3B2):c.1055_1056delinsAA (p.Thr352Lys)
MISSENSE
12187 Pathogenic: 3 beta-Hydroxysteroid dehydrogenase deficiency; not provided 119,422,246(+) C/T
NM_000198.4(HSD3B2):c.745C>T (p.Arg249Ter)
NONSENSE
848651 Pathogenic: not provided 119,421,963(+) C/A
NM_000198.4(HSD3B2):c.462C>A (p.Tyr154Ter)
NONSENSE
874297 Uncertain Significance: 3 beta-Hydroxysteroid dehydrogenase deficiency 119,422,160(+) T/C
NM_000198.4(HSD3B2):c.659T>C (p.Val220Ala)
MISSENSE
874298 Uncertain Significance: 3 beta-Hydroxysteroid dehydrogenase deficiency 119,422,310(+) T/C
NM_000198.4(HSD3B2):c.809T>C (p.Ile270Thr)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for HSD3B2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for HSD3B2 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for HSD3B2 Gene

MalaCards: The human disease database

(23) MalaCards diseases for HSD3B2 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency
  • adrenal hyperplasia ii
3-beta-hydroxysteroid dehydrogenase deficiency
  • 3-beta-hsd deficiency
pseudohermaphroditism
  • indeterminate sex and pseudohermaphroditism
adrenal rest tumor
  • adrenal rest neoplasm
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:25322271, 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 variants 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

Additional Disease Information for HSD3B2

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Publications for HSD3B2 Gene

  1. Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia. (PMID: 18252794) Welzel M … Riepe FG (The Journal of clinical endocrinology and metabolism 2008) 3 4 22 72
  2. A novel A10E homozygous mutation in the HSD3B2 gene causing severe salt-wasting 3beta-hydroxysteroid dehydrogenase deficiency in 46,XX and 46,XY French-Canadians: evaluation of gonadal function after puberty. (PMID: 10843183) Alos N … Simard J (The Journal of clinical endocrinology and metabolism 2000) 3 4 22 72
  3. New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes. (PMID: 10599696) Moisan AM … Simard J (The Journal of clinical endocrinology and metabolism 1999) 3 4 22 72
  4. Congenital adrenal hyperplasia due to point mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene. (PMID: 1363812) Rhéaume E … Labrie F (Nature genetics 1992) 2 3 4 72
  5. 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 RJ (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2009) 3 22 40

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