Seroatlas · Human Serome Atlas

CYP11B2

Cytochrome P450 11B2, mitochondrial

Also known as: ALDOS, C11B2_HUMAN, CPN2, CYP11B, CYP11BL, P-450C18, P450aldo

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P19099
Gene
CYP11B2
Ensembl
ENSG00000179142
Chromosome
8
Canonical length
503 aa
Protein class
Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Predicted intracellular proteins
Subcellular location
Mitochondria

OverviewNCBI Gene

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane. The enzyme has steroid 18-hydroxylase activity to synthesize aldosterone and 18-oxocortisol as well as steroid 11 beta-hydroxylase activity. Mutations in this gene cause corticosterone methyl oxidase deficiency. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

503 residues, UniProt reviewed canonical sequence.

>P19099|CYP11B2
     1  MALRAKAEVC VAAPWLSLQR ARALGTRAAR APRTVLPFEA MPQHPGNRWL RLLQIWREQG
    61  YEHLHLEMHQ TFQELGPIFR YNLGGPRMVC VMLPEDVEKL QQVDSLHPCR MILEPWVAYR
   121  QHRGHKCGVF LLNGPEWRFN RLRLNPDVLS PKAVQRFLPM VDAVARDFSQ ALKKKVLQNA
   181  RGSLTLDVQP SIFHYTIEAS NLALFGERLG LVGHSPSSAS LNFLHALEVM FKSTVQLMFM
   241  PRSLSRWISP KVWKEHFEAW DCIFQYGDNC IQKIYQELAF NRPQHYTGIV AELLLKAELS
   301  LEAIKANSME LTAGSVDTTA FPLLMTLFEL ARNPDVQQIL RQESLAAAAS ISEHPQKATT
   361  ELPLLRAALK ETLRLYPVGL FLERVVSSDL VLQNYHIPAG TLVQVFLYSL GRNAALFPRP
   421  ERYNPQRWLD IRGSGRNFHH VPFGFGMRQC LGRRLAEAEM LLLLHHVLKH FLVETLTQED
   481  IKMVYSFILR PGTSPLLTFR AIN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CYP11B2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Other membrane
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.26
Highest tissue expression
179 nTPM

Expression across tissuesHPA

Tissue

  • adrenal gland: 179 nTPM
  • blood vessel: 0.1 nTPM
  • cerebellum: 0.1 nTPM
  • salivary gland: 0.1 nTPM
  • adipose tissue: 0 nTPM
  • amygdala: 0 nTPM

Single-cell type

  • adrenal cortex cells: 32 nCPM
  • epicardial cells: 2.3 nCPM
  • foveolar cells: 0.4 nCPM
  • gonadotrophs: 0.1 nCPM
  • adipocytes: 0 nCPM
  • adrenal medulla cells: 0 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • basal ganglia: 0.6 nTPM
  • hippocampal formation: 0.2 nTPM
  • cerebral cortex: 0.1 nTPM
  • thalamus: 0.1 nTPM
  • amygdala: 0 nTPM
  • cerebellum: 0 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CYP11B2.

Disease | AllUniProt

Conditions CYP11B2 is implicated in, by any mechanism.

  • Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) MIM:203400
  • Corticosterone methyloxidase 2 deficiency (CMO-2 deficiency) MIM:610600

Disease | GeneticClinVar

132 pathogenic / likely-pathogenic of 816 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Corticosterone methyl oxidase type II deficiency
  • Corticosterone methyloxidase type 2 deficiency
  • Corticosterone 18-monooxygenase deficiency
  • CYP11B2-related disorder
  • Familial hypoaldosteronism

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.57
gnomAD pLI
0
gnomAD missense Z
-0.85
DepMap mean gene effect
0.09
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CYP11B2 as an antibody target. Whether an autoantibody or antibody against CYP11B2 could matter depends on whether native CYP11B2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CYP11B2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label CYP11B2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CYP11B2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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