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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

HSD3B2 Gene

protein-coding GIFtS: 63
GCID: GC01P119957

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid...

Explore 37 diseases affiliated with
HSD3B2 via

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid Delta-Isomerase 2¹ ²		3-Beta-Hydroxy-5-Ene Steroid Dehydrogenase²
SDR11E2¹ ²		3-Beta-Hydroxy-Delta(5)-Steroid Dehydrogenase²
3 Beta-Hydroxysteroid Dehydrogenase/Delta 5-->4-Isomerase Type II² ³		HSD3B²
3-Beta-HSD Adrenal And Gonadal Type² ³		HSDB²
3-Beta-HSD II² ³		Delta 5-Delta 4-Isomerase Type II²
3 Beta-HSD Type II²		Progesterone Reductase²
3 Beta-Hydroxysteroid Dehydrogenase Type II, Delta 5-Delta 4-Isomerase Type II, 3 Beta-HSD Type II²		Short Chain Dehydrogenase/Reductase Family 11E, Member 2²
3 Beta-Hydroxysteroid Dehydrogenase/Delta 5-->4-Isomerase Type 2²		HSDB3B³

External Ids:	HGNC: 5218¹	Entrez Gene: 3284²	Ensembl: ENSG00000203859⁷	OMIM: 613890⁵	UniProtKB: P26439³

Export aliases for HSD3B2 gene to outside databases

Previous GC identifers: GC01P120404 GC01P118795 GC01P119104 GC01P119305 GC01P119306 GC01P119669 GC01P119759 GC01P117816

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for HSD3B2:

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)

UniProtKB/Swiss-Prot: 3BHS2_HUMAN, P26439

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 Wiki entry for HSD3B2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_032977.9

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the HSD3B2 gene promoter:
Max1 Elk-1 Sox5 USF1 YY1 C/EBPalpha USF-1 HOXA5 Meis-1 c-Myc
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: HSD3B2 promoter sequence

Search SABiosciences Chromatin IP Primers for HSD3B2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HSD3B2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p13.1 Ensembl cytogenetic band: 1p12 HGNC cytogenetic band: 1p12

HSD3B2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HSD3B2 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P119957: view genomic region (about GC identifiers)

Start:	119,957,554 bp from pter	End:	119,965,662 bp from pter
Size:	8,109 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: 3BHS2_HUMAN, P26439 (See protein sequence)

Recommended Name: 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2

Size: 372 amino acids; 42052 Da

Subcellular location: Endoplasmic reticulum membrane; Single-pass membrane protein. Mitochondrion membrane; Single-pass

membrane protein

Sequence caution: Sequence=AAC60600.1; Type=Frameshift; Positions=186; Note=The frameshift is caused by a single

nucleotide insertion which is found in AH2;

Secondary accessions: A2RRA5 Q16010 Q53GD4 Q6AI10 Q6LDB9 Q99890 Q9UD08

Alternative splicing: 2 isoforms: P26439-1 P26439-2

Explore the universe of human proteins at neXtProt for HSD3B2: NX_P26439

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P26439

HSD3B2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_000189.1 NP_001159592.1

ENSEMBL proteins:

ENSP00000388292 ENSP00000358424 ENSP00000445122

Reactome Protein details: P26439
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	Browse Proteins at Uscn

Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table

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 to membrane	NAS	1944309

HSD3B2 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HSD3B2 for domains About GeneDecksing

2 InterPro domains/families:

IPR002225 3Beta_OHSteriod_DH/Estase

IPR016040 NAD(P)-bd_dom

Graphical View of Domain Structure for InterPro Entry P26439

ProtoNet protein and cluster: P26439

1 Blocks protein family: IPB002225 3-beta hydroxysteroid dehydrogenase/isomerase

UniProtKB/Swiss-Prot: 3BHS2_HUMAN, P26439

Similarity: Belongs to the 3-beta-HSD family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: 3BHS2_HUMAN, P26439

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

Catalytic activity: A 3-beta-hydroxy-Delta(5)-steroid + NAD(+) = a 3-oxo-Delta(5)-steroid + NADH

Catalytic activity: A 3-oxo-Delta(5)-steroid = a 3-oxo-Delta(4)-steroid

Genatlas biochemistry entry for HSD3B2:

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

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HSD3B2

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0003854	3-beta-hydroxy-delta5-steroid dehydrogenase activity	IDA	1944309
GO:0004769	steroid delta-isomerase activity	IDA	1944309
GO:0016853	isomerase activity	--	--

HSD3B2 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for HSD3B2:

Synthetic lethal with Ras

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Metabolism

	Metabolism	1.00			Metabolism of lipids and lipoproteins	0.34
	Metabolic pathways	0.38

Glucocorticoid biosynthesis

	Glucocorticoid biosynthesis	1.00			Glucocorticoid & Mineralcorticoid Metabolism	0.56
	glucocorticoid biosynthesis	0.67

Estrone metabolism

	Androstenedione and testosterone biosynthesis and metabolism p.1	0.57			Steroid Biosynthesis	0.21
	Androstenedione and testosterone biosynthesis and metabolism p.1	0.57

Androgen biosynthesis

Androgen biosynthesis

1.00

androgen biosynthesis

0.75

Mineralocorticoid biosynthesis

Mineralocorticoid biosynthesis

1.00

mineralocorticoid biosynthesis

0.80

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for HSD3B2

Androstenedione and testosterone biosynthesis and metabolism p.1

1 GeneGo (Thomson Reuters) Pathway for HSD3B2

Androstenedione and testosterone biosynthesis and metabolism p.1

5 BioSystems Pathways for HSD3B2

	glucocorticoid biosynthesis
	mineralocorticoid biosynthesis
	Steroid Biosynthesis
	Glucocorticoid & Mineralcorticoid Metabolism
	androgen biosynthesis

5/7 Reactome Pathways for HSD3B2 (see all 7)

	Glucocorticoid biosynthesis
	Metabolism of steroid hormones and vitamin D
	Mineralocorticoid biosynthesis
	Metabolism
	Steroid hormones

2 Kegg Pathways (Kegg details for HSD3B2):

	Steroid hormone biosynthesis
	Metabolic pathways

UniProtKB/Swiss-Prot: 3BHS2_HUMAN, P26439

Pathway: Lipid metabolism; steroid biosynthesis

HSD3B2 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for HSD3B2

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/42 Interacting proteins for HSD3B2 (ENSP00000358424⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 42)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CYP11A1	ENSP00000268053⁴	STRING: ENSP00000268053
CYP11B1	ENSP00000292427⁴	STRING: ENSP00000292427
CYP17A1	ENSP00000358903⁴	STRING: ENSP00000358903
CYP19A1	ENSP00000260433⁴	STRING: ENSP00000260433
CYP1A1	ENSP00000369050⁴	STRING: ENSP00000369050

About this table

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table

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:0008202	steroid metabolic process	TAS	--

HSD3B2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

HSD3B2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for HSD3B2

10/23 HMDB Compounds for HSD3B2 (see all 23) About this table

Compound	Synonyms	CAS #	PubMed Ids
11b,17a,21-Trihydroxypreg-nenolone	11beta,17alpha,21-Trihydroxypregnenolone (see all 2)	--	--
16a-Hydroxyandrost-4-ene-3,17-dione	4-Androsten-16alpha-ol-3,17-dione (see all 2)	63-02-5	--
16a-Hydroxydehydroisoandrosterone	16-Hydroxydehydroandrosterone (see all 10)	1232-73-1	--
17-Hydroxyprogesterone	17-OHP (see all 15)	68-96-2	--
17a,21-Dihydroxypreg-nenolone	17alpha,21-Dihydroxypregnenolone (see all 2)	1167-48-2	--
17a-Hydroxypregnenolone	17-Hydroxy-D5-pregnenolone (see all 9)	387-79-1	--
21-Hydroxypregnenolone	(3b)-3,21-dihydroxy-Pregn-5-en-20-one (see all 9)	1164-98-3	--
Androst-5-ene-3b,17b-diol	3beta,17beta-Dihydroxy-5-androstene (see all 13)	521-17-5	--
Androstenedione	(4)-Androsten-3,17-dione (see all 14)	63-05-8	--
Campest-4-en-3-one	(24R)-ergost-4-en-3-one	--	--

4 DrugBank Compounds for HSD3B2 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Trilostane	--	13647-35-3	target	inhibitor	18991633 1944305 7996177 8809191 2268554 7989460 6362415
NADH	beta-DPNH (see all 18)	606-68-8	target	--	239964 17139284 1911436 3476810 17016423
Corticotropin	ACTH (see all 5)	9002-60-2	enzyme	inducer	15208301
Medroxyprogesterone	CBP-1011 (see all 9)	520-85-4	enzyme	inhibitor	10372718

10/17 Novoseek chemical compound relationships for HSD3B2 gene (see all 17) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
3beta-hydroxysteroid	94.9	54	10651755 (2), 10599696 (2), 10843183 (2), 8185809 (1) (see all 42)
17-hydroxypregnenolone	82.5	2	10651755 (2)
dhea	79.4	19	15208301 (2), 18796549 (1), 11948020 (1), 18683055 (1) (see all 9)
dehydroepiandrosterone sulfate	69.4	1	15208301 (1)
steroid	66	11	17689071 (2), 17559353 (1), 19505920 (1), 12790800 (1) (see all 8)
androstenedione	65.4	1	18796549 (1)
17beta-hydroxysteroid	64.9	1	18410552 (1)
testosterone	58.8	12	17945481 (2), 20083153 (2), 10417059 (1), 17138841 (1) (see all 9)
acth	56.9	5	10651755 (2), 12608938 (2), 15208301 (1)
dihydrotestosterone	48.7	4	10417059 (1), 17823934 (1)

Search CenterWatch for drugs/clinical trials and news about HSD3B2 / 3BHS2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for HSD3B2 gene (2 alternative transcripts):

NM_000198.3 NM_001166120.1

Unigene Cluster for HSD3B2:

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

Hs.654399 [show with all ESTs]

Unigene Representative Sequence: BC131488

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000433745 ENST00000369416(uc001eht.3) ENST00000471656 ENST00000443865

ENST00000448448 ENST00000543831(uc001ehs.3 uc021ost.1)

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Additional cDNA sequence:

AK222997.1 AK313413.1 BC038419.1 BC131488.1 M67466.1

24/29 DOTS entries (see all 29):

DT.92462457 DT.86852328 DT.92462414 DT.95320228 DT.455031 DT.92462459 DT.121332808 DT.121332899

DT.100824388 DT.117305 DT.95320272 DT.100824387 DT.100817910 DT.121332832 DT.121332880 DT.92462443

DT.92462464 DT.100824389 DT.117306 DT.121332846 DT.121332869 DT.75196507 DT.91910027 DT.95320230

24/483 AceView cDNA sequences (see all 483):

AV703757 CR606137 CR608233 CR617799 CR622398 CR599088 AL553392 BX417042

AL541135 BX446560 T48946 BX339818 AL547931 AV710810 AV710708 CR617775

AV703303 CR603707 AL546272 BX439488 AL540716 BX382702 AL541617 AV705363

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

HSD3B2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAGAGAAAAA

About this image

HSD3B2 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Ovary

Antral Follicle

Theca Cells

Selective marker (cell-identifying gene)

Ovary

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See HSD3B2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for HSD3B2

SOURCE GeneReport for Unigene cluster: Hs.654399

UniProtKB/Swiss-Prot: 3BHS2_HUMAN, P26439

Tissue specificity: Expressed in adrenal gland, testis and ovary

SABiosciences Custom PCR Arrays for HSD3B2

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for HSD3B2 gene from 6/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	HSD3B2¹	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and more	61.52(n) 56.91(a)		396015 NM_205118.1 NP_990449.1
lizard (Anolis carolinensis)	Reptilia	--	--	50(a)	1 → many	GL343218.1(413351-419268)
zebrafish (Danio rerio)	Actinopterygii	AY279108.1²	--	75.74(n)		AY279108.1
fruit fly (Drosophila melanogaster)	Insecta	CG7724¹	CG7724	45.53(n) 31.01(a)		39918 NM_140700.2 NP_648957.1
worm (Caenorhabditis elegans)	Secernentea	hsd-3⁶ hsd-2⁶ (see all 3)	-- HydroxySteroid Dehydrogenase homolog family member... (see all 3)	23(a) 20(a) (see all 3)	possible ortholog possible ortholog (see all 3)	X(5009269-5011191) X(5005238-5006993)
E. coli (Escherichia coli)	Gamma proteobacteria	ybjS⁶	predicted NAD(P)H-binding oxidoreductase with NAD(...	19(a)	1 → many	Chromosome(904963-905976)

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for HSD3B2 gene

SDR42E1² SDR42E2² HSD3B7² HSD3B1² NSDHL²

4 SIMAP similar genes for HSD3B2 using alignment to 2 protein entries: 3BHS2_HUMAN (see all proteins):

HSD3B1 3-HSD 1 HSD3B7 SDR42E2

HSD3B2 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for HSD3B2
PGOHUM00000244870

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs28934880^1,2	C	pathogenic	117816620(+)	`AGGAGC/AAGGAG`	4	/E /A	mis¹ ese³		2		NA	4
rs80358219^1,2	C	pathogenic	117823043(+)	`GCCACA/GAAGAA`	4	K E	mis¹		0	--	--	--	--
rs80358216^1,2	C	pathogenic	117823131(+)	`TGGGTA/GGAATC`	4	* W	stg¹		0	--	--	--	--
rs80358217^1,2	C	pathogenic	117823364(+)	`GTGTCC/TGAGGT`	4	R *	stg¹		0	--	--	--	--
rs80358221^1,2	C	pathogenic	117823395(+)	`TGACAC/TGCCTC`	4	T M	mis¹		0	--	--	--	--
rs80358218^1,2	C	pathogenic	117823738(+)	`CAGTGA/CTTTAA`	4	* C	--		0	--	--	--	--
rs35887327^1,2	C,F,	unknown	117823326(+)	`GGCCTT/CGAGGG`	4	/S /L	mis¹		12		NA EU CSAM EA WA	6501
rs56199014^1,2	C,	--	117814172(+)	`TAGTGC/TGGCCC`	1	--	us2k¹		1		WA	2
rs17023564^1,2	C,F,H,	--	117814271(+)	`CCACTC/GAGACT`	1	--	us2k¹ tfbs³		24		NA NS EA EU CSAM WA	2420
rs58233700^1,2	C,	--	117814290(+)	`CACTGC/TCTGAA`	1	--	us2k¹		2		WA	120

HapMap Linkage Disequilibrium report for HSD3B2 (119957554 - 119965662 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for HSD3B2
1 CNV: 48018
Human Gene Mutation Database (HGMD): HSD3B2

Locus Specific Mutation Databases (LSDB): HSD3B2

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HSD3B2

DNA2.0 Custom Variant and Variant Library Synthesis for HSD3B2

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

HSD3B2 for disorders About GeneDecksing

OMIM gene information: 613890 OMIM disorders: --

UniProtKB/Swiss-Prot: 3BHS2_HUMAN, P26439

Defects in HSD3B2 are the cause of adrenal hyperplasia type 2 (AH2) [MIM:201810]. AH2 is 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

Note=Mild HSD3B2 deficiency in hyperandrogenic females is associated with characteristic traits of polycystic

ovary syndrome, such as insulin resistance and luteinizing hormone hypersecretion

20/37 diseases for HSD3B2 (see all 37): About MalaCards

3-beta-hydroxysteroid dehydrogenase deficiency 3-beta-hydroxysteroid dehydrogenase-deficient congenital adrenal hyperplasia 21-hydroxylase deficiency adrenal hyperplasia

polycystic ovary syndrome pseudohermaphroditism precocious puberty virilization

addison's disease giant cell hepatitis hyperandrogenism insulin resistance

cushing's syndrome essential hypertension prostate cancer familial prostate cancer

hypospadias adrenocortical carcinoma aldosteronism endometrial cancer

2 diseases from the University of Copenhagen DISEASES database for HSD3B2:

Hypospadias Hyperandrogenism

9 Novoseek disease relationships for HSD3B2 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
adrenal hyperplasia congenital	80.5	14	8004103 (2), 11196452 (1), 18252794 (1), 10843183 (1) (see all 9)
pseudohermaphroditism	72.3	1	8185809 (1)
virilization	69.4	4	11196452 (1), 10599696 (1), 10843183 (1), 12428206 (1)
pseudohermaphroditism male	66.2	1	8060486 (1)
hyperandrogenism	55.4	2	18683055 (1)
prostate cancer	47.5	17	17823934 (3), 9294620 (3), 19505920 (2), 11912155 (2) (see all 8)
addisons disease	40.8	1	15632317 (1)
polycystic ovary syndrome	39.1	1	14764797 (1)
tumors	0	4	19270420 (2), 18623241 (1), 20519819 (1)

Genatlas disease: HSD3B2

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

salt losing

Genetic Association Database (GAD): HSD3B2
Human Genome Epidemiology (HuGE) Navigator: HSD3B2 (27 documents)

Export disorders for HSD3B2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for HSD3B2 gene, integrated from 9 sources (see all 154):
(articles sorted by number of sources associating them with HSD3B2)

Utopia: connect your pdf to the dynamic
world of online information

Congenital adrenal hyperplasia due to point mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene. (PubMed id 1363812)^{1, 2, 3} Rheaume E.... Labrie F. (1992)
The orphan nuclear receptor NGFIB regulates transcription of 3beta-hydroxysteroid dehydrogenase. implications for the control of adrenal functional zonation. (PubMed id 15208301)^{1, 7, 9} Bassett M.H....Rainey W.E. (2004)
Refining hormonal diagnosis of type II 3beta-hydroxysteroid dehydrogenase deficiency in patients with premature pubarche and hirsutism based on HSD3B2 genotyping. (PubMed id 15585552)^{1, 4, 9} Mermejo L.M....de Castro M. (2005)
Mutations in the type II 3beta-hydroxysteroid dehydrogenase (HSD3B2) gene can cause premature pubarche in girls. (PubMed id 10651755)^{1, 2, 9} Marui S.... Mendonca B.B. (2000)
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. (PubMed id 10599696)^{1, 2, 9} Moisan A.M.... Simard J. (1999)
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. (PubMed id 10843183)^{1, 2, 9} Alos N.... Simard J. (2000)
Molecular study of the 3 beta-hydroxysteroid dehydrogenase gene type II in patients with hypospadias. (PubMed id 14764821)^{1, 4, 9} Codner E....Cassorla F.G. (2004)
Joint effect of HSD3B1 and HSD3B2 genes is associated with hereditary and sporadic prostate cancer susceptibility. (PubMed id 11912155)^{1, 4, 9} Chang B.L....Xu J. (2002)
Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia. (PubMed id 18252794)^{1, 2, 9} Welzel M....Riepe F.G. (2008)
The hormonal phenotype of nonclassic 3 beta-hydroxysteroid dehydrogenase (HSD3B) deficiency in hyperandrogenic females is associated with insulin-resistant polycystic ovary syndrome and is not a variant of inherited HSD3B2 deficiency. (PubMed id 14764797)^{1, 2, 9} Carbunaru G.... Pang S. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 3284	HGNC: 5218	AceView: HSD3B2andHSD3B1andLOC440606	Ensembl:ENSG00000203859	euGenes: HUgn3284
ECgene: HSD3B2	Kegg: 3284	H-InvDB: HSD3B2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for HSD3B2	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HSD3B2

Intellectual Property for HSD3B2 gene
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Patent Information for HSD3B2 gene:
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GeneCards and IP:
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