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P26439

- 3BHS2_HUMAN

UniProt

P26439 - 3BHS2_HUMAN

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Protein

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

Gene

HSD3B2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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 activityi

A 3-beta-hydroxy-Delta(5)-steroid + NAD+ = a 3-oxo-Delta(5)-steroid + NADH.
A 3-oxo-Delta(5)-steroid = a 3-oxo-Delta(4)-steroid.

Pathwayi

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei154 – 1541Proton acceptorBy similarity
Binding sitei158 – 1581NADBy similarity

GO - Molecular functioni

  1. 3-beta-hydroxy-delta5-steroid dehydrogenase activity Source: UniProtKB
  2. steroid delta-isomerase activity Source: UniProtKB

GO - Biological processi

  1. androgen biosynthetic process Source: Reactome
  2. glucocorticoid biosynthetic process Source: Reactome
  3. mineralocorticoid biosynthetic process Source: Reactome
  4. small molecule metabolic process Source: Reactome
  5. steroid biosynthetic process Source: UniProtKB
  6. steroid metabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Isomerase, Oxidoreductase

Keywords - Biological processi

Steroidogenesis

Keywords - Ligandi

NAD

Enzyme and pathway databases

BioCyciMetaCyc:HS10943-MONOMER.
BRENDAi1.1.1.145. 2681.
ReactomeiREACT_11036. Glucocorticoid biosynthesis.
REACT_11047. Mineralocorticoid biosynthesis.
REACT_11059. Androgen biosynthesis.
UniPathwayiUPA00062.

Names & Taxonomyi

Protein namesi
Recommended name:
3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2
Alternative name(s):
3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type II
Short name:
3-beta-HSD II
3-beta-HSD adrenal and gonadal type
Including the following 2 domains:
3-beta-hydroxy-Delta(5)-steroid dehydrogenase (EC:1.1.1.145)
Alternative name(s):
3-beta-hydroxy-5-ene steroid dehydrogenase
Progesterone reductase
Steroid Delta-isomerase (EC:5.3.3.1)
Alternative name(s):
Delta-5-3-ketosteroid isomerase
Gene namesi
Name:HSD3B2
Synonyms:HSDB3B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:5218. HSD3B2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei287 – 30721HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. endoplasmic reticulum Source: UniProtKB
  2. endoplasmic reticulum membrane Source: Reactome
  3. integral component of membrane Source: UniProtKB
  4. mitochondrial inner membrane Source: UniProtKB
  5. mitochondrial intermembrane space Source: UniProtKB
  6. mitochondrial membrane Source: UniProtKB
  7. smooth endoplasmic reticulum membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Mitochondrion

Pathology & Biotechi

Involvement in diseasei

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.17 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti10 – 101A → E in AH2; activity abolished. 2 Publications
Corresponds to variant rs28934880 [ dbSNP | Ensembl ].
VAR_010517
Natural varianti10 – 101A → V in AH2; nonsalt-wasting form. 1 Publication
VAR_010518
Natural varianti15 – 151G → D in AH2; activity abolished. 2 Publications
VAR_010519
Natural varianti82 – 821A → P in AH2. 1 Publication
VAR_070028
Natural varianti82 – 821A → T in AH2. 2 Publications
VAR_010520
Natural varianti100 – 1001N → S in AH2; nonsalt-wasting form. 2 Publications
VAR_010521
Natural varianti108 – 1081L → W in AH2; activity abolished. 2 Publications
VAR_010522
Natural varianti129 – 1291G → R in AH2; nonsalt-wasting form. 3 Publications
VAR_010523
Natural varianti142 – 1421E → K in AH2; activity abolished. 3 Publications
VAR_000006
Natural varianti155 – 1551P → L in AH2; nonsalt-wasting form. 1 Publication
VAR_010524
Natural varianti167 – 1671A → V in AH2; late onset; almost normal activity. 1 Publication
Corresponds to variant rs35486059 [ dbSNP | Ensembl ].
VAR_010525
Natural varianti173 – 1731L → R in AH2; nonsalt-wasting form. 2 Publications
VAR_010526
Natural varianti186 – 1861P → L in AH2; activity abolished. 2 Publications
VAR_010527
Natural varianti205 – 2051L → P in AH2. 2 Publications
VAR_000007
Natural varianti213 – 2131S → G in AH2; late onset; partial loss of activity. 1 Publication
VAR_010528
Natural varianti216 – 2161K → E in AH2; late onset; partial loss of activity. 1 Publication
VAR_010529
Natural varianti222 – 2221P → H in AH2; nonsalt-wasting form; activity abolished. 1 Publication
VAR_010530
Natural varianti222 – 2221P → Q in AH2; activity abolished. 2 Publications
VAR_010531
Natural varianti222 – 2221P → T in AH2. 1 Publication
VAR_015411
Natural varianti231 – 2388Missing in AH2; activity abolished.
VAR_010532
Natural varianti236 – 2361L → S in AH2; mild; 100% of activity. 2 Publications
Corresponds to variant rs35887327 [ dbSNP | Ensembl ].
VAR_010533
Natural varianti245 – 2451A → P in AH2; loss of 88% of activity. 2 Publications
VAR_000008
Natural varianti253 – 2531Y → N in AH2; activity abolished. 2 Publications
VAR_000009
Natural varianti254 – 2541Y → D in AH2; activity abolished. 2 Publications
VAR_000010
Natural varianti259 – 2591T → M in AH2; activity abolished. 2 Publications
VAR_010534
Natural varianti259 – 2591T → R in AH2; activity abolished. 2 Publications
VAR_000011
Natural varianti294 – 2941G → V in AH2; nonsalt-wasting form; activity abolished. 1 Publication
VAR_010535
Natural varianti341 – 3411P → L in AH2; strongly reduced activity. 1 Publication
VAR_065665
Mild HSD3B2 deficiency in hyperandrogenic females is associated with characteristic traits of polycystic ovary syndrome, such as insulin resistance and luteinizing hormone hypersecretion.1 Publication

Keywords - Diseasei

Congenital adrenal hyperplasia, Disease mutation

Organism-specific databases

MIMi201810. phenotype.
Orphaneti90791. Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency.
3185. Polycystic ovary syndrome.
PharmGKBiPA29487.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 3723723 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2PRO_0000087775Add
BLAST

Proteomic databases

PaxDbiP26439.
PRIDEiP26439.

PTM databases

PhosphoSiteiP26439.

Expressioni

Tissue specificityi

Expressed in adrenal gland, testis and ovary.

Gene expression databases

BgeeiP26439.
CleanExiHS_HSD3B2.
ExpressionAtlasiP26439. baseline and differential.
GenevestigatoriP26439.

Interactioni

Protein-protein interaction databases

BioGridi109517. 1 interaction.
STRINGi9606.ENSP00000358424.

Structurei

3D structure databases

ProteinModelPortaliP26439.
SMRiP26439. Positions 6-341.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the 3-beta-HSD family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0451.
GeneTreeiENSGT00550000074557.
HOVERGENiHBG000014.
KOiK00070.
OMAiTTEWLAS.
PhylomeDBiP26439.
TreeFamiTF343138.

Family and domain databases

Gene3Di3.40.50.720. 2 hits.
InterProiIPR002225. 3Beta_OHSteriod_DH/Estase.
IPR016040. NAD(P)-bd_dom.
[Graphical view]
PfamiPF01073. 3Beta_HSD. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P26439-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MGWSCLVTGA GGLLGQRIVR LLVEEKELKE IRALDKAFRP ELREEFSKLQ
60 70 80 90 100
NRTKLTVLEG DILDEPFLKR ACQDVSVVIH TACIIDVFGV THRESIMNVN
110 120 130 140 150
VKGTQLLLEA CVQASVPVFI YTSSIEVAGP NSYKEIIQNG HEEEPLENTW
160 170 180 190 200
PTPYPYSKKL AEKAVLAANG WNLKNGDTLY TCALRPTYIY GEGGPFLSAS
210 220 230 240 250
INEALNNNGI LSSVGKFSTV NPVYVGNVAW AHILALRALR DPKKAPSVRG
260 270 280 290 300
QFYYISDDTP HQSYDNLNYI LSKEFGLRLD SRWSLPLTLM YWIGFLLEVV
310 320 330 340 350
SFLLSPIYSY QPPFNRHTVT LSNSVFTFSY KKAQRDLAYK PLYSWEEAKQ
360 370
KTVEWVGSLV DRHKETLKSK TQ
Length:372
Mass (Da):42,052
Last modified:January 23, 2007 - v2
Checksum:i8E0D933488988451
GO
Isoform 2 (identifier: P26439-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     103-222: GTQLLLEACV...SVGKFSTVNP → ELQNKIKLTV...FIDEKTRTEQ
     223-372: Missing.

Show »
Length:222
Mass (Da):24,987
Checksum:i48A60A9900F0C500
GO

Sequence cautioni

The sequence AAC60600.1 differs from that shown. Reason: Frameshift at position 186. The frameshift is caused by a single nucleotide insertion which is found in AH2.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti52 – 532RT → KI in AAD14329. (PubMed:7588414)Curated
Sequence conflicti92 – 943HRE → RRQ in AAD14329. (PubMed:7588414)Curated
Sequence conflicti232 – 2321H → L in BAD96717. 1 PublicationCurated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti10 – 101A → E in AH2; activity abolished. 2 Publications
Corresponds to variant rs28934880 [ dbSNP | Ensembl ].
VAR_010517
Natural varianti10 – 101A → V in AH2; nonsalt-wasting form. 1 Publication
VAR_010518
Natural varianti15 – 151G → D in AH2; activity abolished. 2 Publications
VAR_010519
Natural varianti74 – 741D → N.
Corresponds to variant rs4986954 [ dbSNP | Ensembl ].
VAR_048099
Natural varianti82 – 821A → P in AH2. 1 Publication
VAR_070028
Natural varianti82 – 821A → T in AH2. 2 Publications
VAR_010520
Natural varianti94 – 941E → Q.1 Publication
Corresponds to variant rs6211 [ dbSNP | Ensembl ].
VAR_014818
Natural varianti100 – 1001N → S in AH2; nonsalt-wasting form. 2 Publications
VAR_010521
Natural varianti108 – 1081L → W in AH2; activity abolished. 2 Publications
VAR_010522
Natural varianti129 – 1291G → R in AH2; nonsalt-wasting form. 3 Publications
VAR_010523
Natural varianti142 – 1421E → K in AH2; activity abolished. 3 Publications
VAR_000006
Natural varianti155 – 1551P → L in AH2; nonsalt-wasting form. 1 Publication
VAR_010524
Natural varianti167 – 1671A → V in AH2; late onset; almost normal activity. 1 Publication
Corresponds to variant rs35486059 [ dbSNP | Ensembl ].
VAR_010525
Natural varianti173 – 1731L → R in AH2; nonsalt-wasting form. 2 Publications
VAR_010526
Natural varianti186 – 1861P → L in AH2; activity abolished. 2 Publications
VAR_010527
Natural varianti205 – 2051L → P in AH2. 2 Publications
VAR_000007
Natural varianti213 – 2131S → G in AH2; late onset; partial loss of activity. 1 Publication
VAR_010528
Natural varianti216 – 2161K → E in AH2; late onset; partial loss of activity. 1 Publication
VAR_010529
Natural varianti222 – 2221P → H in AH2; nonsalt-wasting form; activity abolished. 1 Publication
VAR_010530
Natural varianti222 – 2221P → Q in AH2; activity abolished. 2 Publications
VAR_010531
Natural varianti222 – 2221P → T in AH2. 1 Publication
VAR_015411
Natural varianti231 – 2388Missing in AH2; activity abolished.
VAR_010532
Natural varianti236 – 2361L → S in AH2; mild; 100% of activity. 2 Publications
Corresponds to variant rs35887327 [ dbSNP | Ensembl ].
VAR_010533
Natural varianti245 – 2451A → P in AH2; loss of 88% of activity. 2 Publications
VAR_000008
Natural varianti253 – 2531Y → N in AH2; activity abolished. 2 Publications
VAR_000009
Natural varianti254 – 2541Y → D in AH2; activity abolished. 2 Publications
VAR_000010
Natural varianti259 – 2591T → M in AH2; activity abolished. 2 Publications
VAR_010534
Natural varianti259 – 2591T → R in AH2; activity abolished. 2 Publications
VAR_000011
Natural varianti294 – 2941G → V in AH2; nonsalt-wasting form; activity abolished. 1 Publication
VAR_010535
Natural varianti341 – 3411P → L in AH2; strongly reduced activity. 1 Publication
VAR_065665

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei103 – 222120GTQLL…STVNP → ELQNKIKLTVLEGDILDEPF LKRACQDVSVVIHTACIIDV FGVTHRQSIMNVNVKGRVAW GGDKARWGNEDQKEGQEGKR SLSIEHLLCSGPSDFADHYQ LGELKAAIFSFIDEKTRTEQ in isoform 2. 1 PublicationVSP_037399Add
BLAST
Alternative sequencei223 – 372150Missing in isoform 2. 1 PublicationVSP_037400Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M77144 Genomic DNA. Translation: AAA36014.1.
M67466 mRNA. Translation: AAA36016.1.
CR627415 mRNA. Translation: CAH10504.1.
AK222997 mRNA. Translation: BAD96717.1.
AL359553 Genomic DNA. Translation: CAC19799.1.
CH471122 Genomic DNA. Translation: EAW56700.1.
BC038419 mRNA. Translation: AAH38419.1.
BC131488 mRNA. Translation: AAI31489.1.
S80140 Genomic DNA. Translation: AAD14329.1.
S60309 Genomic DNA. Translation: AAC60599.1.
S60310 Genomic DNA. Translation: AAC60600.1. Frameshift.
CCDSiCCDS902.1. [P26439-1]
PIRiA39488. DEHUH2.
RefSeqiNP_000189.1. NM_000198.3. [P26439-1]
NP_001159592.1. NM_001166120.1. [P26439-1]
UniGeneiHs.654399.

Genome annotation databases

EnsembliENST00000369416; ENSP00000358424; ENSG00000203859. [P26439-1]
ENST00000543831; ENSP00000445122; ENSG00000203859. [P26439-1]
GeneIDi3284.
KEGGihsa:3284.
UCSCiuc001ehs.3. human. [P26439-1]
uc001ehu.3. human. [P26439-2]

Polymorphism databases

DMDMi112770.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M77144 Genomic DNA. Translation: AAA36014.1 .
M67466 mRNA. Translation: AAA36016.1 .
CR627415 mRNA. Translation: CAH10504.1 .
AK222997 mRNA. Translation: BAD96717.1 .
AL359553 Genomic DNA. Translation: CAC19799.1 .
CH471122 Genomic DNA. Translation: EAW56700.1 .
BC038419 mRNA. Translation: AAH38419.1 .
BC131488 mRNA. Translation: AAI31489.1 .
S80140 Genomic DNA. Translation: AAD14329.1 .
S60309 Genomic DNA. Translation: AAC60599.1 .
S60310 Genomic DNA. Translation: AAC60600.1 . Frameshift.
CCDSi CCDS902.1. [P26439-1 ]
PIRi A39488. DEHUH2.
RefSeqi NP_000189.1. NM_000198.3. [P26439-1 ]
NP_001159592.1. NM_001166120.1. [P26439-1 ]
UniGenei Hs.654399.

3D structure databases

ProteinModelPortali P26439.
SMRi P26439. Positions 6-341.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 109517. 1 interaction.
STRINGi 9606.ENSP00000358424.

Chemistry

BindingDBi P26439.
ChEMBLi CHEMBL3670.
DrugBanki DB01285. Corticotropin.
DB00603. Medroxyprogesterone Acetate.
DB01108. Trilostane.

PTM databases

PhosphoSitei P26439.

Polymorphism databases

DMDMi 112770.

Proteomic databases

PaxDbi P26439.
PRIDEi P26439.

Protocols and materials databases

DNASUi 3284.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000369416 ; ENSP00000358424 ; ENSG00000203859 . [P26439-1 ]
ENST00000543831 ; ENSP00000445122 ; ENSG00000203859 . [P26439-1 ]
GeneIDi 3284.
KEGGi hsa:3284.
UCSCi uc001ehs.3. human. [P26439-1 ]
uc001ehu.3. human. [P26439-2 ]

Organism-specific databases

CTDi 3284.
GeneCardsi GC01P119957.
HGNCi HGNC:5218. HSD3B2.
MIMi 201810. phenotype.
613890. gene.
neXtProti NX_P26439.
Orphaneti 90791. Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency.
3185. Polycystic ovary syndrome.
PharmGKBi PA29487.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0451.
GeneTreei ENSGT00550000074557.
HOVERGENi HBG000014.
KOi K00070.
OMAi TTEWLAS.
PhylomeDBi P26439.
TreeFami TF343138.

Enzyme and pathway databases

UniPathwayi UPA00062 .
BioCyci MetaCyc:HS10943-MONOMER.
BRENDAi 1.1.1.145. 2681.
Reactomei REACT_11036. Glucocorticoid biosynthesis.
REACT_11047. Mineralocorticoid biosynthesis.
REACT_11059. Androgen biosynthesis.

Miscellaneous databases

GeneWikii HSD3B2.
GenomeRNAii 3284.
NextBioi 13035.
PROi P26439.
SOURCEi Search...

Gene expression databases

Bgeei P26439.
CleanExi HS_HSD3B2.
ExpressionAtlasi P26439. baseline and differential.
Genevestigatori P26439.

Family and domain databases

Gene3Di 3.40.50.720. 2 hits.
InterProi IPR002225. 3Beta_OHSteriod_DH/Estase.
IPR016040. NAD(P)-bd_dom.
[Graphical view ]
Pfami PF01073. 3Beta_HSD. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Structure of the human type II 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase (3 beta-HSD) gene: adrenal and gonadal specificity."
    Lachance Y., Luu-The V., Verreault H., Dumont M., Rheaume E., Leblanc G., Labrie F.
    DNA Cell Biol. 10:701-711(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  2. "Structure and expression of a new complementary DNA encoding the almost exclusive 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase in human adrenals and gonads."
    Rheaume E., Lachance Y., Zhao H.-F., Breton N., Dumont M., de Launoit Y., Trudel C., Luu-The V., Simard J., Labrie F.
    Mol. Endocrinol. 5:1147-1157(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Adrenal gland.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT GLN-94.
    Tissue: Adrenal gland.
  4. Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
    Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Small intestine.
  5. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain.
  8. "Variation in the expression of human 3 beta-hydroxysteroid dehydrogenase."
    Russell A.J., McCartin S., Corcao G., Burridge S.M., McBride M.W., McNicol A.M., Hawes C.S., Mason J.I., Sutcliffe R.G.
    Endocr. Res. 21:485-494(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 49-102.
  9. "Congenital adrenal hyperplasia due to point mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene."
    Rheaume E., Simard J., Morel Y., Mebarki F., Zachmann M., Forest M.G., New M.I., Labrie F.
    Nat. Genet. 1:239-245(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 167-205.
  10. "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."
    Carbunaru G., Prasad P., Scoccia B., Shea P., Hopwood N., Ziai F., Chang Y.T., Myers S.E., Mason J.I., Pang S.
    J. Clin. Endocrinol. Metab. 89:783-794(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: POSSIBLE INVOLVEMENT IN INSULIN-RESISTANT POLYCYSTIC OVARY SYNDROME.
  11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  12. "Molecular basis of congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency."
    Simard J., Rheaume E., Sanchez R., Laflamme N., de Launoit Y., Luu-The V., van Seters A.P., Gordon R.D., Bettendorf M., Heinrich U., Moshang T., New M.I., Labrie F.
    Mol. Endocrinol. 7:716-728(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AH2 LYS-142; PRO-245 AND ASN-253.
  13. "Functional characterization of the novel L108W and P186L mutations detected in the type II 3 beta-hydroxysteroid dehydrogenase gene of a male pseudohermaphrodite with congenital adrenal hyperplasia."
    Sanchez R., Mebarki F., Rheaume E., Laflamme N., Forest M.G., Bey-Omar F., David M., Morel Y., Labrie F., Simard J.
    Hum. Mol. Genet. 3:1639-1645(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AH2 TRP-108 AND LEU-186.
  14. "Detection and functional characterization of the novel missense mutation Y254D in type II 3 beta-hydroxysteroid dehydrogenase (3 beta HSD) gene of a female patient with nonsalt-losing 3 beta HSD deficiency."
    Sanchez R., Rheaume E., Laflamme N., Rosenfield R.L., Labrie F., Simard J.
    J. Clin. Endocrinol. Metab. 78:561-567(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT AH2 ASP-254.
  15. "Molecular basis of congenital adrenal hyperplasia in two siblings with classical nonsalt-losing 3 beta-hydroxysteroid dehydrogenase deficiency."
    Rheaume E., Sanchez R., Simard J., Chang Y.T., Wang J., Pang S., Labrie F.
    J. Clin. Endocrinol. Metab. 79:1012-1018(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT AH2 ARG-129.
  16. "Mutation in 3 beta-hydroxysteroid dehydrogenase type II associated with pseudohermaphroditism in males and premature pubarche or cryptic expression in females."
    Mendonca B.B., Russell A.J., Vasconcelos-Leite M., Arnhold I.J., Bloise W., Wajchenberg B.L., Nicolau W., Sutcliffe R.G., Wallace A.M.
    J. Mol. Endocrinol. 12:119-122(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT AH2 THR-82.
  17. "Mutation in the human gene for 3 beta-hydroxysteroid dehydrogenase type II leading to male pseudohermaphroditism without salt loss."
    Russell A.J., Wallace A.M., Forest M.G., Donaldson M.D., Edwards C.R., Sutcliffe R.G.
    J. Mol. Endocrinol. 12:225-237(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT AH2 ARG-173.
  18. "Identification and characterization of the G15D mutation found in a male patient with 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) deficiency: alteration of the putative NAD-binding domain of type II 3 beta-HSD."
    Rheaume E., Sanchez R., Mebarki F., Gagnon E., Carel J.-C., Chaussain J.-L., Morel Y., Labrie F., Simard J.
    Biochemistry 34:2893-2900(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT AH2 ASP-15.
  19. "A novel missense mutation in the type II 3 beta-hydroxysteroid dehydrogenase gene in a family with classical salt-wasting congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency."
    Katsumata N., Tanae A., Yasunaga T., Horikawa R., Tanaka T., Hibi I.
    Hum. Mol. Genet. 4:745-746(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT AH2 PRO-205.
  20. "Molecular analysis of type II 3 beta-hydroxysteroid dehydrogenase gene in Japanese patients with classical 3 beta-hydroxysteroid dehydrogenase deficiency."
    Tajima T., Fujieda K., Nakae J., Shinohara N., Yoshimoto M., Baba T., Kinoshita E., Igarashi Y., Oomura T.
    Hum. Mol. Genet. 4:969-971(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT AH2 ARG-259.
  21. "Nonsalt-losing male pseudohermaphroditism due to the novel homozygous N100S mutation in the type II 3 beta-hydroxysteroid dehydrogenase gene."
    Mebarki F., Sanchez R., Rheaume E., Laflamme N., Simard J., Forest M.G., Bey-Omar F., David M., Labrie F., Morel Y.
    J. Clin. Endocrinol. Metab. 80:2127-2134(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT AH2 SER-100.
  22. "Variants of the type II 3beta-hydroxysteroid dehydrogenase gene in children with premature pubic hair and hyperandrogenic adolescents."
    Nayak S., Lee P.A., Witchel S.F.
    Mol. Genet. Metab. 64:184-192(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT AH2 SER-236.
  23. "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."
    Moisan A.M., Ricketts M.L., Tardy V., Desrochers M., Mebarki F., Chaussain J.-L., Cabrol S., Raux-Demay M.C., Forest M.G., Sippell W.G., Peter M., Morel Y., Simard J.
    J. Clin. Endocrinol. Metab. 84:4410-4425(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AH2 GLU-10; VAL-10; ASP-15; THR-82; SER-100; TRP-108; ARG-129; LYS-142; LEU-155; VAL-167; ARG-173; LEU-186; PRO-205; GLY-213; GLU-216; GLN-222; HIS-222; SER-236; PRO-245; ASN-253; ASP-254; ARG-259; MET-259 AND VAL-294.
  24. "Mutations in the type II 3beta-hydroxysteroid dehydrogenase (HSD3B2) gene can cause premature pubarche in girls."
    Marui S., Castro M., Latronico A.C., Elias L.L., Arnhold I.J., Moreira A.C., Mendonca B.B.
    Clin. Endocrinol. (Oxf.) 52:67-75(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AH2 ARG-129; GLN-222 AND MET-259.
  25. "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."
    Alos N., Moisan A.M., Ward L., Desrochers M., Legault L., Leboeuf G., van Vliet G., Simard J.
    J. Clin. Endocrinol. Metab. 85:1968-1974(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT AH2 GLU-10.
  26. "A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3-beta-hydroxysteroid dehydrogenase (3-beta-HSD) gene causing, respectively, nonclassic and classic 3-beta-HSD deficiency congenital adrenal hyperplasia."
    Pang S., Wang W., Rich B., David R., Chang Y.T., Carbunaru G., Myers S.E., Howie A.F., Smillie K.J., Mason J.I.
    J. Clin. Endocrinol. Metab. 87:2556-2563(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AH2 LYS-142 AND THR-222.
  27. "Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia."
    Welzel M., Wustemann N., Simic-Schleicher G., Dorr H.G., Schulze E., Shaikh G., Clayton P., Grotzinger J., Holterhus P.M., Riepe F.G.
    J. Clin. Endocrinol. Metab. 93:1418-1425(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT AH2 LEU-341, CHARACTERIZATION OF VARIANT AH2 LEU-341.
  28. "In silico structural, functional and pathogenicity evaluation of a novel mutation: an overview of HSD3B2 gene mutations."
    Rabbani B., Mahdieh N., Haghi Ashtiani M.T., Setoodeh A., Rabbani A.
    Gene 503:215-221(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT AH2 PRO-82.

Entry informationi

Entry namei3BHS2_HUMAN
AccessioniPrimary (citable) accession number: P26439
Secondary accession number(s): A2RRA5
, Q16010, Q53GD4, Q6AI10, Q6LDB9, Q99890, Q9UD08
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 1, 1992
Last sequence update: January 23, 2007
Last modified: October 29, 2014
This is version 157 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Multifunctional enzyme, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3