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P26439

- 3BHS2_HUMAN

UniProt

P26439 - 3BHS2_HUMAN

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
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    • History
      Entry version 156 (01 Oct 2014)
      Sequence version 2 (23 Jan 2007)
      Previous versions | rss
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    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

    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

    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

    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

    ArrayExpressiP26439.
    BgeeiP26439.
    CleanExiHS_HSD3B2.
    GenevestigatoriP26439.

    Interactioni

    Protein-protein interaction databases

    BioGridi109517. 1 interaction.
    STRINGi9606.ENSP00000358424.

    Structurei

    3D structure databases

    ProteinModelPortaliP26439.
    SMRiP26439. Positions 6-158.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

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

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the 3-beta-HSD family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0451.
    HOVERGENiHBG000014.
    InParanoidiP26439.
    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

    MGWSCLVTGA GGLLGQRIVR LLVEEKELKE IRALDKAFRP ELREEFSKLQ    50
    NRTKLTVLEG DILDEPFLKR ACQDVSVVIH TACIIDVFGV THRESIMNVN 100
    VKGTQLLLEA CVQASVPVFI YTSSIEVAGP NSYKEIIQNG HEEEPLENTW 150
    PTPYPYSKKL AEKAVLAANG WNLKNGDTLY TCALRPTYIY GEGGPFLSAS 200
    INEALNNNGI LSSVGKFSTV NPVYVGNVAW AHILALRALR DPKKAPSVRG 250
    QFYYISDDTP HQSYDNLNYI LSKEFGLRLD SRWSLPLTLM YWIGFLLEVV 300
    SFLLSPIYSY QPPFNRHTVT LSNSVFTFSY KKAQRDLAYK PLYSWEEAKQ 350
    KTVEWVGSLV DRHKETLKSK TQ 372
    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.

    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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 6-158.
    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.
    HOVERGENi HBG000014.
    InParanoidi P26439.
    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

    ArrayExpressi P26439.
    Bgeei P26439.
    CleanExi HS_HSD3B2.
    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

    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 1, 2014
    This is version 156 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