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P19099

- C11B2_HUMAN

UniProt

P19099 - C11B2_HUMAN

Protein

Cytochrome P450 11B2, mitochondrial

Gene

CYP11B2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 163 (01 Oct 2014)
      Sequence version 3 (15 Jul 1998)
      Previous versions | rss
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    Functioni

    Preferentially catalyzes the conversion of 11-deoxycorticosterone to aldosterone via corticosterone and 18-hydroxycorticosterone.1 Publication

    Catalytic activityi

    A steroid + reduced adrenodoxin + O2 = an 11-beta-hydroxysteroid + oxidized adrenodoxin + H2O.1 Publication
    Corticosterone + reduced adrenodoxin + O2 = 18-hydroxycorticosterone + oxidized adrenodoxin + H2O.1 Publication

    Cofactori

    Heme group.1 Publication

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi450 – 4501Iron (heme axial ligand)

    GO - Molecular functioni

    1. corticosterone 18-monooxygenase activity Source: UniProtKB-EC
    2. heme binding Source: UniProtKB
    3. iron ion binding Source: InterPro
    4. steroid 11-beta-monooxygenase activity Source: UniProtKB

    GO - Biological processi

    1. aldosterone biosynthetic process Source: UniProtKB
    2. C21-steroid hormone biosynthetic process Source: BHF-UCL
    3. cellular response to hormone stimulus Source: UniProtKB
    4. cellular response to potassium ion Source: UniProtKB
    5. cortisol biosynthetic process Source: UniProtKB
    6. mineralocorticoid biosynthetic process Source: Reactome
    7. potassium ion homeostasis Source: BHF-UCL
    8. regulation of blood volume by renal aldosterone Source: BHF-UCL
    9. renal water homeostasis Source: BHF-UCL
    10. small molecule metabolic process Source: Reactome
    11. sodium ion homeostasis Source: BHF-UCL
    12. steroid metabolic process Source: Reactome
    13. sterol metabolic process Source: Reactome
    14. xenobiotic metabolic process Source: Reactome

    Keywords - Molecular functioni

    Monooxygenase, Oxidoreductase

    Keywords - Biological processi

    Lipid metabolism, Steroid metabolism, Steroidogenesis

    Keywords - Ligandi

    Heme, Iron, Metal-binding

    Enzyme and pathway databases

    BioCyciMetaCyc:HS11355-MONOMER.
    ReactomeiREACT_11036. Glucocorticoid biosynthesis.
    REACT_11047. Mineralocorticoid biosynthesis.
    REACT_13812. Endogenous sterols.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Cytochrome P450 11B2, mitochondrial
    Alternative name(s):
    Aldosterone synthase (EC:1.14.15.4, EC:1.14.15.5)
    Short name:
    ALDOS
    Aldosterone-synthesizing enzyme
    CYPXIB2
    Cytochrome P-450Aldo
    Cytochrome P-450C18
    Steroid 18-hydroxylase
    Gene namesi
    Name:CYP11B2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

    Organism-specific databases

    HGNCiHGNC:2592. CYP11B2.

    Subcellular locationi

    GO - Cellular componenti

    1. mitochondrial inner membrane Source: BHF-UCL
    2. mitochondrion Source: BHF-UCL

    Keywords - Cellular componenti

    Membrane, Mitochondrion

    Pathology & Biotechi

    Involvement in diseasei

    Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) [MIM:203400]: Autosomal recessive disorder of aldosterone biosynthesis. There are two biochemically different forms of selective aldosterone deficiency be termed corticosterone methyloxidase (CMO) deficiency type 1 and type 2. In CMO-1 deficiency, aldosterone is undetectable in plasma, while its immediate precursor, 18-hydroxycorticosterone, is low or normal.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti140 – 1401N → NRL in CMO-1 deficiency; the enzyme is inactive.
    VAR_018470
    Natural varianti461 – 4611L → P in CMO-1 deficiency; abolishes the 18-hydroxylase activity required for conversion of 11-deoxycorticosterone to aldosterone. 1 Publication
    VAR_018472
    Corticosterone methyloxidase 2 deficiency (CMO-2 deficiency) [MIM:610600]: Autosomal recessive disorder of aldosterone biosynthesis. In CMO-2 deficiency, aldosterone can be low or normal, but at the expense of increased secretion of 18-hydroxycorticosterone. Consequently, patients have a greatly increased ratio of 18-hydroxycorticosterone to aldosterone and a low ratio of corticosterone to 18-hydroxycorticosterone in serum.5 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti181 – 1811R → W in CMO-2 deficiency; reduces 18-hydroxylase and abolishes 18-oxidase activities; leaves 11 beta-hydroxylase activity intact. 2 Publications
    Corresponds to variant rs28931609 [ dbSNP | Ensembl ].
    VAR_001267
    Natural varianti185 – 1851T → I in CMO-2 deficiency. 2 Publications
    VAR_018471
    Natural varianti198 – 1981E → D in CMO-2 deficiency. 1 Publication
    VAR_001268
    Natural varianti386 – 3861V → A in CMO-2 deficiency; small but consistent reduction in the production of 18-hydroxycorticosterone. 5 Publications
    Corresponds to variant rs4541 [ dbSNP | Ensembl ].
    VAR_001269
    Natural varianti498 – 4981T → A in CMO-2 deficiency. 1 Publication
    VAR_018473
    Familial hyperaldosteronism 1 (FH1) [MIM:103900]: A disorder characterized by hypertension, variable hyperaldosteronism, and abnormal adrenal steroid production, including 18-oxocortisol and 18-hydroxycortisol. There is significant phenotypic heterogeneity, and some individuals never develop hypertension.
    Note: The disease is caused by mutations affecting the gene represented in this entry. The molecular defect causing hyperaldosteronism familial 1 is an anti-Lepore-type fusion of the CYP11B1 and CYP11B2 genes. The hybrid gene has the promoting part of CYP11B1, ACTH-sensitive, and the coding part of CYP11B2.

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi103900. phenotype.
    203400. phenotype.
    610600. phenotype.
    Orphaneti403. Familial hyperaldosteronism type 1.
    99763. Familial hyperreninemic hypoaldosteronism type 1.
    PharmGKBiPA134.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 2424MitochondrionAdd
    BLAST
    Chaini25 – 503479Cytochrome P450 11B2, mitochondrialPRO_0000003597Add
    BLAST

    Proteomic databases

    PaxDbiP19099.
    PRIDEiP19099.

    Expressioni

    Gene expression databases

    ArrayExpressiP19099.
    BgeeiP19099.
    CleanExiHS_CYP11B2.
    GenevestigatoriP19099.

    Organism-specific databases

    HPAiHPA049171.

    Interactioni

    Protein-protein interaction databases

    BioGridi107957. 1 interaction.
    STRINGi9606.ENSP00000325822.

    Structurei

    Secondary structure

    1
    503
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi38 – 403
    Helixi48 – 5811
    Helixi64 – 7512
    Beta strandi77 – 804
    Beta strandi84 – 863
    Beta strandi88 – 914
    Helixi94 – 10310
    Helixi114 – 12310
    Helixi129 – 1313
    Helixi134 – 1429
    Helixi145 – 1484
    Helixi151 – 17828
    Beta strandi182 – 1865
    Helixi189 – 20517
    Beta strandi212 – 2143
    Helixi218 – 23821
    Helixi242 – 2487
    Helixi250 – 28031
    Helixi289 – 2968
    Helixi301 – 31313
    Helixi317 – 33216
    Helixi334 – 35320
    Helixi355 – 3573
    Helixi358 – 3614
    Helixi363 – 37513
    Beta strandi381 – 3855
    Beta strandi390 – 3923
    Beta strandi395 – 3973
    Beta strandi402 – 4065
    Helixi407 – 4104
    Turni414 – 4163
    Beta strandi417 – 4193
    Helixi427 – 4304
    Helixi446 – 4483
    Helixi453 – 47018
    Beta strandi471 – 4744
    Beta strandi483 – 49311
    Beta strandi497 – 5015

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    4DVQX-ray2.49A/B/C/D/E/F/G/H/I/J/K/L34-503[»]
    4FDHX-ray2.71A/B/C/D/E/F/G/H/I/J/K/L34-503[»]
    ProteinModelPortaliP19099.
    SMRiP19099. Positions 34-502.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the cytochrome P450 family.Curated

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiCOG2124.
    HOGENOMiHOG000013161.
    HOVERGENiHBG051098.
    InParanoidiP19099.
    KOiK07433.
    OMAiPFEAMPQ.
    OrthoDBiEOG7ZWD2T.
    PhylomeDBiP19099.
    TreeFamiTF105094.

    Family and domain databases

    Gene3Di1.10.630.10. 1 hit.
    InterProiIPR001128. Cyt_P450.
    IPR017972. Cyt_P450_CS.
    IPR002399. Cyt_P450_mitochondrial.
    [Graphical view]
    PfamiPF00067. p450. 1 hit.
    [Graphical view]
    PRINTSiPR00408. MITP450.
    PR00385. P450.
    SUPFAMiSSF48264. SSF48264. 1 hit.
    PROSITEiPS00086. CYTOCHROME_P450. 1 hit.
    [Graphical view]
    ProtoNetiSearch...

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    P19099-1 [UniParc]FASTAAdd to Basket

    « Hide

    MALRAKAEVC VAAPWLSLQR ARALGTRAAR APRTVLPFEA MPQHPGNRWL    50
    RLLQIWREQG YEHLHLEMHQ TFQELGPIFR YNLGGPRMVC VMLPEDVEKL 100
    QQVDSLHPCR MILEPWVAYR QHRGHKCGVF LLNGPEWRFN RLRLNPDVLS 150
    PKAVQRFLPM VDAVARDFSQ ALKKKVLQNA RGSLTLDVQP SIFHYTIEAS 200
    NLALFGERLG LVGHSPSSAS LNFLHALEVM FKSTVQLMFM PRSLSRWISP 250
    KVWKEHFEAW DCIFQYGDNC IQKIYQELAF NRPQHYTGIV AELLLKAELS 300
    LEAIKANSME LTAGSVDTTA FPLLMTLFEL ARNPDVQQIL RQESLAAAAS 350
    ISEHPQKATT ELPLLRAALK ETLRLYPVGL FLERVVSSDL VLQNYHIPAG 400
    TLVQVFLYSL GRNAALFPRP ERYNPQRWLD IRGSGRNFHH VPFGFGMRQC 450
    LGRRLAEAEM LLLLHHVLKH FLVETLTQED IKMVYSFILR PGTSPLLTFR 500
    AIN 503
    Length:503
    Mass (Da):57,560
    Last modified:July 15, 1998 - v3
    Checksum:i42BA671704CEE35D
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti29 – 291A → T.1 Publication
    Corresponds to variant rs6438 [ dbSNP | Ensembl ].
    VAR_014151
    Natural varianti30 – 301R → Q.1 Publication
    Corresponds to variant rs6441 [ dbSNP | Ensembl ].
    VAR_014152
    Natural varianti140 – 1401N → NRL in CMO-1 deficiency; the enzyme is inactive.
    VAR_018470
    Natural varianti173 – 1731K → R.3 Publications
    Corresponds to variant rs4539 [ dbSNP | Ensembl ].
    VAR_001266
    Natural varianti181 – 1811R → W in CMO-2 deficiency; reduces 18-hydroxylase and abolishes 18-oxidase activities; leaves 11 beta-hydroxylase activity intact. 2 Publications
    Corresponds to variant rs28931609 [ dbSNP | Ensembl ].
    VAR_001267
    Natural varianti185 – 1851T → I in CMO-2 deficiency. 2 Publications
    VAR_018471
    Natural varianti198 – 1981E → D in CMO-2 deficiency. 1 Publication
    VAR_001268
    Natural varianti222 – 2221N → T.
    Corresponds to variant rs5308 [ dbSNP | Ensembl ].
    VAR_014643
    Natural varianti248 – 2481I → T.2 Publications
    Corresponds to variant rs4547 [ dbSNP | Ensembl ].
    VAR_014153
    Natural varianti281 – 2811N → S.2 Publications
    Corresponds to variant rs4537 [ dbSNP | Ensembl ].
    VAR_014154
    Natural varianti339 – 3391I → T.2 Publications
    Corresponds to variant rs4544 [ dbSNP | Ensembl ].
    VAR_014155
    Natural varianti383 – 3831E → V.
    Corresponds to variant rs5312 [ dbSNP | Ensembl ].
    VAR_014644
    Natural varianti386 – 3861V → A in CMO-2 deficiency; small but consistent reduction in the production of 18-hydroxycorticosterone. 5 Publications
    Corresponds to variant rs4541 [ dbSNP | Ensembl ].
    VAR_001269
    Natural varianti403 – 4031V → E.
    Corresponds to variant rs5315 [ dbSNP | Ensembl ].
    VAR_014645
    Natural varianti435 – 4351G → S.2 Publications
    Corresponds to variant rs4545 [ dbSNP | Ensembl ].
    VAR_014156
    Natural varianti461 – 4611L → P in CMO-1 deficiency; abolishes the 18-hydroxylase activity required for conversion of 11-deoxycorticosterone to aldosterone. 1 Publication
    VAR_018472
    Natural varianti487 – 4871F → V.
    Corresponds to variant rs5317 [ dbSNP | Ensembl ].
    VAR_014646
    Natural varianti498 – 4981T → A in CMO-2 deficiency. 1 Publication
    VAR_018473

    Sequence conflict

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti17 – 171S → C in AAA35741. (PubMed:2592361)Curated
    Sequence conflicti55 – 551I → M in AAA35741. (PubMed:2592361)Curated
    Sequence conflicti119 – 1191Y → I in AAA35741. (PubMed:2592361)Curated
    Sequence conflicti249 – 2491S → R in CAA38539. (PubMed:2256920)Curated
    Sequence conflicti342 – 3421Q → K in AAA35741. (PubMed:2592361)Curated
    Sequence conflicti438 – 4381F → L in AAA35741. (PubMed:2592361)Curated
    Sequence conflicti470 – 4701H → R in AAA35741. (PubMed:2592361)Curated

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M32881, M32864, M32880 Genomic DNA. Translation: AAA35741.1.
    X54741 mRNA. Translation: CAA38539.1.
    D13752 Genomic DNA. Translation: BAA02899.1.
    EU326306 Genomic DNA. Translation: ACA05912.1.
    CH471162 Genomic DNA. Translation: EAW82292.1.
    CCDSiCCDS6393.1.
    PIRiB34181.
    RefSeqiNP_000489.3. NM_000498.3.
    UniGeneiHs.632054.

    Genome annotation databases

    EnsembliENST00000323110; ENSP00000325822; ENSG00000179142.
    GeneIDi1585.
    KEGGihsa:1585.
    UCSCiuc003yxk.1. human.

    Polymorphism databases

    DMDMi3041666.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    Wikipedia

    CYP11B2 entry

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M32881 , M32864 , M32880 Genomic DNA. Translation: AAA35741.1 .
    X54741 mRNA. Translation: CAA38539.1 .
    D13752 Genomic DNA. Translation: BAA02899.1 .
    EU326306 Genomic DNA. Translation: ACA05912.1 .
    CH471162 Genomic DNA. Translation: EAW82292.1 .
    CCDSi CCDS6393.1.
    PIRi B34181.
    RefSeqi NP_000489.3. NM_000498.3.
    UniGenei Hs.632054.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    4DVQ X-ray 2.49 A/B/C/D/E/F/G/H/I/J/K/L 34-503 [» ]
    4FDH X-ray 2.71 A/B/C/D/E/F/G/H/I/J/K/L 34-503 [» ]
    ProteinModelPortali P19099.
    SMRi P19099. Positions 34-502.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107957. 1 interaction.
    STRINGi 9606.ENSP00000325822.

    Chemistry

    BindingDBi P19099.
    ChEMBLi CHEMBL2722.
    DrugBanki DB00796. Candesartan.
    DB01011. Metyrapone.

    Polymorphism databases

    DMDMi 3041666.

    Proteomic databases

    PaxDbi P19099.
    PRIDEi P19099.

    Protocols and materials databases

    DNASUi 1585.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000323110 ; ENSP00000325822 ; ENSG00000179142 .
    GeneIDi 1585.
    KEGGi hsa:1585.
    UCSCi uc003yxk.1. human.

    Organism-specific databases

    CTDi 1585.
    GeneCardsi GC08M143988.
    H-InvDB HIX0034383.
    HGNCi HGNC:2592. CYP11B2.
    HPAi HPA049171.
    MIMi 103900. phenotype.
    124080. gene.
    203400. phenotype.
    610600. phenotype.
    neXtProti NX_P19099.
    Orphaneti 403. Familial hyperaldosteronism type 1.
    99763. Familial hyperreninemic hypoaldosteronism type 1.
    PharmGKBi PA134.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG2124.
    HOGENOMi HOG000013161.
    HOVERGENi HBG051098.
    InParanoidi P19099.
    KOi K07433.
    OMAi PFEAMPQ.
    OrthoDBi EOG7ZWD2T.
    PhylomeDBi P19099.
    TreeFami TF105094.

    Enzyme and pathway databases

    BioCyci MetaCyc:HS11355-MONOMER.
    Reactomei REACT_11036. Glucocorticoid biosynthesis.
    REACT_11047. Mineralocorticoid biosynthesis.
    REACT_13812. Endogenous sterols.

    Miscellaneous databases

    GeneWikii Aldosterone_synthase.
    GenomeRNAii 1585.
    NextBioi 6515.
    PROi P19099.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P19099.
    Bgeei P19099.
    CleanExi HS_CYP11B2.
    Genevestigatori P19099.

    Family and domain databases

    Gene3Di 1.10.630.10. 1 hit.
    InterProi IPR001128. Cyt_P450.
    IPR017972. Cyt_P450_CS.
    IPR002399. Cyt_P450_mitochondrial.
    [Graphical view ]
    Pfami PF00067. p450. 1 hit.
    [Graphical view ]
    PRINTSi PR00408. MITP450.
    PR00385. P450.
    SUPFAMi SSF48264. SSF48264. 1 hit.
    PROSITEi PS00086. CYTOCHROME_P450. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Characterization of two genes encoding human steroid 11 beta-hydroxylase (P-450(11) beta)."
      Mornet E., Dupont J., Vitek A., White P.C.
      J. Biol. Chem. 264:20961-20967(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    2. Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Adrenal gland.
    3. Kawamoto T., Miyahara K., Mitsuuchi Y., Ulick S., Shizuta Y.
      Submitted (JUN-1994) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
      Tissue: Blood.
    4. NHLBI resequencing and genotyping service (RS&G)
      Submitted (DEC-2007) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "Structural insights into aldosterone synthase substrate specificity and targeted inhibition."
      Strushkevich N., Gilep A.A., Shen L., Arrowsmith C.H., Edwards A.M., Usanov S.A., Park H.W.
      Mol. Endocrinol. 27:315-324(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.49 ANGSTROMS) OF 34-503 IN COMPLEXES WITH HEME; DESOXYCORTICOSTERONE AND SYNTHETIC INHIBITOR FADROZOLE, CATALYTIC ACTIVITY, COFACTOR, FUNCTION.
    7. "Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency."
      Pascoe L., Curnow K.M., Slutsker L., Roesler A., White P.C.
      Proc. Natl. Acad. Sci. U.S.A. 89:4996-5000(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CMO-2 DEFICIENCY TRP-181 AND ALA-386.
    8. "Congenitally defective aldosterone biosynthesis in humans: the involvement of point mutations of the P-450C18 gene (CYP11B2) in CMO II deficient patients."
      Mitsuuchi Y., Kawamoto T., Naiki Y., Miyahara K., Toda K., Kuribayashi I., Orii T., Yasuda K., Miura K., Nakao K., Imura H., Ulick S., Shizuta Y.
      Biochem. Biophys. Res. Commun. 182:974-979(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CMO-2 DEFICIENCY TRP-181 AND ALA-386.
    9. Erratum
      Mitsuuchi Y., Kawamoto T., Naiki Y., Miyahara K., Toda K., Kuribayashi I., Orii T., Yasuda K., Miura K., Nakao K., Imura H., Ulick S., Shizuta Y.
      Biochem. Biophys. Res. Commun. 184:1529-1530(1992)
    10. "Congenitally defective aldosterone biosynthesis in humans: inactivation of the P-450(C18) gene (CYP11B2) due to nucleotide deletion in CMO I deficient patients."
      Mitsuuchi Y., Kawamoto T., Miyahara K., Ulick S., Morton D.H., Naiki Y., Kuribayashi I., Toda K., Hara T., Orii T., Yasuda K., Miura K., Yamamoto Y., Imura H., Shizuta Y.
      Biochem. Biophys. Res. Commun. 190:864-869(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: DISEASE.
    11. "CMO I deficiency caused by a point mutation in exon 8 of the human CYP11B2 gene encoding steroid 18-hydroxylase (P450C18)."
      Nomoto S., Massa G., Mitani F., Ishimura Y., Miyahara K., Toda K., Nagano I., Yamashiro T., Ogoshi S., Fukata J., Onishi S., Hashimoto K., Doi Y., Imura H., Shizuta Y.
      Biochem. Biophys. Res. Commun. 234:382-385(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CMO-1 DEFICIENCY PRO-461.
    12. "Mutation THR-185 ILE is associated with corticosterone methyl oxidase deficiency type II."
      Peter M., Buenger K., Solyom J., Sippell W.G.
      Eur. J. Pediatr. 157:378-381(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CMO-2 DEFICIENCY ILE-185.
    13. "Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene."
      Portrat-Doyen S., Tourniaire J., Richard O., Mulatero P., Aupetit-Faisant B., Curnow K.M., Pascoe L., Morel Y.
      J. Clin. Endocrinol. Metab. 83:4156-4161(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CMO-2 DEFICIENCY ASP-198 AND ALA-386.
    14. "Genetic polymorphism of CYP11B2 gene and hypertension in Japanese."
      Tamaki S., Iwai N., Tsujita Y., Kinoshita M.
      Hypertension 33:266-270(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ARG-173.
    15. Cited for: VARIANTS THR-29; GLN-30; ARG-173; THR-248; SER-281; THR-339; ALA-386 AND SER-435.
    16. "Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis."
      Halushka M.K., Fan J.-B., Bentley K., Hsie L., Shen N., Weder A., Cooper R., Lipshutz R., Chakravarti A.
      Nat. Genet. 22:239-247(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ARG-173; THR-248; SER-281; THR-339; ALA-386 AND SER-435.
    17. "Type 1 aldosterone synthase deficiency presenting in a middle-aged man."
      Kayes-Wandover K.M., Schindler R.E.L., Taylor H.C., White P.C.
      J. Clin. Endocrinol. Metab. 86:1008-1012(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CMO-1 DEFICIENCY ARG-LEU-140 INS.
    18. "A compound heterozygote case of type II aldosterone synthase deficiency."
      Dunlop F.M., Crock P.A., Montalto J., Funder J.W., Curnow K.M.
      J. Clin. Endocrinol. Metab. 88:2518-2526(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CMO-2 DEFICIENCY ILE-185 AND ALA-498.

    Entry informationi

    Entry nameiC11B2_HUMAN
    AccessioniPrimary (citable) accession number: P19099
    Secondary accession number(s): B0ZBE4, Q16726
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1990
    Last sequence update: July 15, 1998
    Last modified: October 1, 2014
    This is version 163 of the entry and version 3 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 8
      Human chromosome 8: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3

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