Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

P19099

- C11B2_HUMAN

UniProt

P19099 - C11B2_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Cytochrome P450 11B2, mitochondrial

Gene

CYP11B2

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

Functioni

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

Catalytic activityi

A steroid + 2 reduced adrenodoxin + O2 + 2 H+ = an 11-beta- hydroxysteroid + 2 oxidized adrenodoxin + H2O.1 Publication
Corticosterone + 2 reduced adrenodoxin + O2 + 2 H+ = 18-hydroxycorticosterone + 2 oxidized adrenodoxin + H2O.1 Publication

Cofactori

heme1 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
Complete GO annotation...

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
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:2592. CYP11B2.

Subcellular locationi

GO - Cellular componenti

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

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 I.
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

BgeeiP19099.
CleanExiHS_CYP11B2.
ExpressionAtlasiP19099. baseline and differential.
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 – 403Combined sources
Helixi48 – 5811Combined sources
Helixi64 – 7512Combined sources
Beta strandi77 – 804Combined sources
Beta strandi84 – 863Combined sources
Beta strandi88 – 914Combined sources
Helixi94 – 10310Combined sources
Helixi114 – 12310Combined sources
Helixi129 – 1313Combined sources
Helixi134 – 1429Combined sources
Helixi145 – 1484Combined sources
Helixi151 – 17828Combined sources
Beta strandi182 – 1865Combined sources
Helixi189 – 20517Combined sources
Beta strandi212 – 2143Combined sources
Helixi218 – 23821Combined sources
Helixi242 – 2487Combined sources
Helixi250 – 28031Combined sources
Helixi289 – 2968Combined sources
Helixi301 – 31313Combined sources
Helixi317 – 33216Combined sources
Helixi334 – 35320Combined sources
Helixi355 – 3573Combined sources
Helixi358 – 3614Combined sources
Helixi363 – 37513Combined sources
Beta strandi381 – 3855Combined sources
Beta strandi390 – 3923Combined sources
Beta strandi395 – 3973Combined sources
Beta strandi402 – 4065Combined sources
Helixi407 – 4104Combined sources
Turni414 – 4163Combined sources
Beta strandi417 – 4193Combined sources
Helixi427 – 4304Combined sources
Helixi446 – 4483Combined sources
Helixi453 – 47018Combined sources
Beta strandi471 – 4744Combined sources
Beta strandi483 – 49311Combined sources
Beta strandi497 – 5015Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
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.
GeneTreeiENSGT00760000119243.
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]

Sequencei

Sequence statusi: Complete.

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

P19099-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MALRAKAEVC VAAPWLSLQR ARALGTRAAR APRTVLPFEA MPQHPGNRWL
60 70 80 90 100
RLLQIWREQG YEHLHLEMHQ TFQELGPIFR YNLGGPRMVC VMLPEDVEKL
110 120 130 140 150
QQVDSLHPCR MILEPWVAYR QHRGHKCGVF LLNGPEWRFN RLRLNPDVLS
160 170 180 190 200
PKAVQRFLPM VDAVARDFSQ ALKKKVLQNA RGSLTLDVQP SIFHYTIEAS
210 220 230 240 250
NLALFGERLG LVGHSPSSAS LNFLHALEVM FKSTVQLMFM PRSLSRWISP
260 270 280 290 300
KVWKEHFEAW DCIFQYGDNC IQKIYQELAF NRPQHYTGIV AELLLKAELS
310 320 330 340 350
LEAIKANSME LTAGSVDTTA FPLLMTLFEL ARNPDVQQIL RQESLAAAAS
360 370 380 390 400
ISEHPQKATT ELPLLRAALK ETLRLYPVGL FLERVVSSDL VLQNYHIPAG
410 420 430 440 450
TLVQVFLYSL GRNAALFPRP ERYNPQRWLD IRGSGRNFHH VPFGFGMRQC
460 470 480 490 500
LGRRLAEAEM LLLLHHVLKH FLVETLTQED IKMVYSFILR PGTSPLLTFR

AIN
Length:503
Mass (Da):57,560
Last modified:July 15, 1998 - v3
Checksum:i42BA671704CEE35D
GO

Experimental Info

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

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 databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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:
PDBei
RCSB PDBi
PDBji
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 DB00700. Eplerenone.
DB00292. Etomidate.
DB00741. Hydrocortisone.
DB01233. Metoclopramide.
DB01011. Metyrapone.
DB00421. Spironolactone.

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 I.
99763. Familial hyperreninemic hypoaldosteronism type 1.
PharmGKBi PA134.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG2124.
GeneTreei ENSGT00760000119243.
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

Bgeei P19099.
CleanExi HS_CYP11B2.
ExpressionAtlasi P19099. baseline and differential.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 165 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