Seroatlas · Human Serome Atlas

HSD11B2

11-beta-hydroxysteroid dehydrogenase type 2

Also known as: DHI2_HUMAN, SDR9C3

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

Protein identityUniProt · HPA

UniProt accession
P80365
Gene
HSD11B2
Ensembl
ENSG00000176387
Chromosome
16
Canonical length
405 aa
Protein class
Disease related genes, Human disease related genes, Metabolic proteins, Predicted membrane proteins
Subcellular location
Vesicles

OverviewNCBI Gene

There are at least two isozymes of the corticosteroid 11-beta-dehydrogenase, a microsomal enzyme complex responsible for the interconversion of cortisol and cortisone. The type I isozyme has both 11-beta-dehydrogenase (cortisol to cortisone) and 11-oxoreductase (cortisone to cortisol) activities. The type II isozyme, encoded by this gene, has only 11-beta-dehydrogenase activity. In aldosterone-selective epithelial tissues such as the kidney, the type II isozyme catalyzes the glucocorticoid cortisol to the inactive metabolite cortisone, thus preventing illicit activation of the mineralocorticoid receptor. In tissues that do not express the mineralocorticoid receptor, such as the placenta and testis, it protects cells from the growth-inhibiting and/or pro-apoptotic effects of cortisol, particularly during embryonic development. Mutations in this gene cause the syndrome of apparent mineralocorticoid excess and hypertension. [provided by RefSeq, Feb 2010]

Canonical amino-acid sequenceUniProt

405 residues, UniProt reviewed canonical sequence.

>P80365|HSD11B2
     1  MERWPWPSGG AWLLVAARAL LQLLRSDLRL GRPLLAALAL LAALDWLCQR LLPPPAALAV
    61  LAAAGWIALS RLARPQRLPV ATRAVLITGC DSGFGKETAK KLDSMGFTVL ATVLELNSPG
   121  AIELRTCCSP RLRLLQMDLT KPGDISRVLE FTKAHTTSTG LWGLVNNAGH NEVVADAELS
   181  PVATFRSCME VNFFGALELT KGLLPLLRSS RGRIVTVGSP AGDMPYPCLG AYGTSKAAVA
   241  LLMDTFSCEL LPWGVKVSII QPGCFKTESV RNVGQWEKRK QLLLANLPQE LLQAYGKDYI
   301  EHLHGQFLHS LRLAMSDLTP VVDAITDALL AARPRRRYYP GQGLGLMYFI HYYLPEGLRR
   361  RFLQAFFISH CLPRALQPGQ PGTTPPQDAA QDPNLSPGPS PAVAR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HSD11B2 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
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.31
Highest tissue expression
325 nTPM

Expression across tissuesHPA

Tissue

  • kidney: 325 nTPM
  • salivary gland: 245 nTPM
  • colon: 236 nTPM
  • small intestine: 137 nTPM
  • rectum: 96 nTPM
  • skin: 63 nTPM

Single-cell type

  • renal connecting tubule cells: 723 nCPM
  • colonocytes: 565 nCPM
  • goblet cells: 363 nCPM
  • conjunctival goblet cells: 348 nCPM
  • salivary duct cells: 338 nCPM
  • enterocytes: 309 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: 8.1 nTPM
  • pons: 5.4 nTPM
  • cerebral cortex: 4.5 nTPM
  • cerebellum: 4.3 nTPM
  • white matter: 3.5 nTPM
  • medulla oblongata: 2.8 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HSD11B2.

Disease | AllUniProt

Conditions HSD11B2 is implicated in, by any mechanism.

  • Apparent mineralocorticoid excess (AME) MIM:218030

Disease | GeneticClinVar

21 pathogenic / likely-pathogenic of 211 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Apparent mineralocorticoid excess
  • Apparent mineralocorticoid excess, mild

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)
0.82
gnomAD pLI
0.12
gnomAD missense Z
1.02
DepMap mean gene effect
-0.13
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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 HSD11B2 as an antibody target. Whether an autoantibody or antibody against HSD11B2 could matter depends on whether native HSD11B2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

HSD11B2 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 HSD11B2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/HSD11B2. 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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