Details for: HSD11B2

Gene ID: 3291

Symbol: HSD11B2

Ensembl ID: ENSG00000176387

Description: hydroxysteroid 11-beta dehydrogenase 2

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 4.45
    Marker Score: 11220
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: 4.17
    Marker Score: 3999
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 3.66
    Marker Score: 30957.5
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 3.58
    Marker Score: 3798
  • Cell Name: tracheal goblet cell (CL1000329)
    Fold Change: 3.31
    Marker Score: 9338
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 3.18
    Marker Score: 2452
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 3.01
    Marker Score: 4991
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 2.97
    Marker Score: 4204
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 2.46
    Marker Score: 7713
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 1.98
    Marker Score: 5296
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 1.81
    Marker Score: 1736
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 1.66
    Marker Score: 2553
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.57
    Marker Score: 1563
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 1.5
    Marker Score: 791
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 1.5
    Marker Score: 4301.5
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 1.48
    Marker Score: 7121
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 168704
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.37
    Marker Score: 866
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.35
    Marker Score: 1452
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.29
    Marker Score: 321
  • Cell Name: renal intercalated cell (CL0005010)
    Fold Change: 1.25
    Marker Score: 664.5
  • Cell Name: pulmonary ionocyte (CL0017000)
    Fold Change: 1.18
    Marker Score: 725
  • Cell Name: trophoblast giant cell (CL0002488)
    Fold Change: 1.11
    Marker Score: 359
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 1.04
    Marker Score: 2975
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 1.04
    Marker Score: 392
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.04
    Marker Score: 793
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71811
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48034
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 506
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30406
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 459
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2411
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5350
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.93
    Marker Score: 2214
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2736
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 325
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.88
    Marker Score: 254
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.88
    Marker Score: 9947.5
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5282
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 0.86
    Marker Score: 3587
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.85
    Marker Score: 395.5
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.83
    Marker Score: 5403
  • Cell Name: large intestine goblet cell (CL1000320)
    Fold Change: 0.83
    Marker Score: 219
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.8
    Marker Score: 253
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.78
    Marker Score: 1831
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.77
    Marker Score: 1256.5
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 395
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 0.76
    Marker Score: 1863
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.75
    Marker Score: 544
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.74
    Marker Score: 180
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.74
    Marker Score: 751
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.73
    Marker Score: 665
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.73
    Marker Score: 485
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.72
    Marker Score: 290
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 178
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.69
    Marker Score: 553
  • Cell Name: enterocyte of epithelium proper of ileum (CL1000342)
    Fold Change: 0.67
    Marker Score: 195
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.66
    Marker Score: 2781.5
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.62
    Marker Score: 410.5
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.56
    Marker Score: 1992
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.56
    Marker Score: 148
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.55
    Marker Score: 8639
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 440
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.52
    Marker Score: 496
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.5
    Marker Score: 211
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.49
    Marker Score: 141
  • Cell Name: Unknown (CL0002371)
    Fold Change: 0.48
    Marker Score: 515
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.47
    Marker Score: 95
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.46
    Marker Score: 938
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.46
    Marker Score: 814
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.45
    Marker Score: 860
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.44
    Marker Score: 204
  • Cell Name: columnar/cuboidal epithelial cell (CL0000075)
    Fold Change: 0.44
    Marker Score: 117
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 0.44
    Marker Score: 3261
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.44
    Marker Score: 432
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 0.42
    Marker Score: 298
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.41
    Marker Score: 97
  • Cell Name: M cell of gut (CL0000682)
    Fold Change: 0.41
    Marker Score: 107
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.41
    Marker Score: 392.5
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.39
    Marker Score: 222
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.39
    Marker Score: 616
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.39
    Marker Score: 596
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.38
    Marker Score: 3635
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.37
    Marker Score: 721
  • Cell Name: type L enteroendocrine cell (CL0002279)
    Fold Change: 0.37
    Marker Score: 101
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.37
    Marker Score: 370
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.37
    Marker Score: 152
  • Cell Name: paneth cell (CL0000510)
    Fold Change: 0.36
    Marker Score: 250
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.35
    Marker Score: 68
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.35
    Marker Score: 374
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.34
    Marker Score: 428
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.34
    Marker Score: 101
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.33
    Marker Score: 192
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: 0.33
    Marker Score: 169
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.32
    Marker Score: 141
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.32
    Marker Score: 100
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 0.32
    Marker Score: 2029
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.32
    Marker Score: 175
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 0.31
    Marker Score: 261
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.31
    Marker Score: 569

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Other Information

**Key characteristics:** - HSD11B2 is a protein of the cytochrome P450 family. - It is expressed in high levels in the liver and kidney. - It is also expressed in smaller amounts in the brain, lungs, and muscles. - It is a highly regulated gene, with its expression being influenced by a variety of factors, including hormones, cytokines, and genetic variants. **Pathways and functions:** - HSD11B2 is involved in a variety of metabolic pathways, including the steroid metabolic process, the cortisol metabolic process, and the metabolism of lipids and steroids. - In the steroid metabolic process, HSD11B2 reduces 11-beta-hydroxysteroid to 11-dehydrocortisol. - In the cortisol metabolic process, HSD11B2 is involved in the metabolism of cortisol and other glucocorticoids. - In the metabolism of lipids and steroids, HSD11B2 is involved in the metabolism of cholesterol, bile acids, and other lipids. **Clinical significance:** - Mutations in HSD11B2 have been linked to a number of human diseases, including hypertension, diabetes, and cardiovascular disease. - HSD11B2 inhibitors are being investigated as a treatment for these diseases. - HSD11B2 is a promising target for the treatment of human diseases that are caused by abnormalities in steroid metabolism.

Genular Protein ID: 2054951750

Symbol: DHI2_HUMAN

Name: 11-beta-hydroxysteroid dehydrogenase type II

UniProtKB Accession Codes:

P80365 A7LB28 C5HTY7 Q13194 Q6P2G9 Q8N439 Q96QN8 Q99887 Q9UC50 Q9UC51 Q9UCW5 Q9UCW6 Q9UCW7 Q9UCW8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 2 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 26 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 17 DrugCentral 1 EMBL 11 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 14 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GuidetoPHARMACOLOGY 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 1 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 2 RefSeq 1 Rhea 10 SABIO-RK 1 SAM 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7859916

Title: Cloning and tissue distribution of the human 11 beta-hydroxysteroid dehydrogenase type 2 enzyme.

PubMed ID: 7859916

DOI: 10.1016/0303-7207(94)90176-7

PubMed ID: 8530071

Title: Gene structure and chromosomal localization of the human HSD11K gene encoding the kidney (type 2) isozyme of 11 beta-hydroxysteroid dehydrogenase.

PubMed ID: 8530071

DOI: 10.1006/geno.1995.1231

PubMed ID: 8611140

Title: Cloning and production of antisera to human placental 11 beta-hydroxysteroid dehydrogenase type 2.

PubMed ID: 8611140

DOI: 10.1042/bj3131007

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8611186

Title: Purification of 11 beta-hydroxysteroid dehydrogenase type 2 from human placenta utilizing a novel affinity labelling technique.

PubMed ID: 8611186

DOI: 10.1042/bj3130997

PubMed ID: 7593417

Title: Several homozygous mutations in the gene for 11 beta-hydroxysteroid dehydrogenase type 2 in patients with apparent mineralocorticoid excess.

PubMed ID: 7593417

DOI: 10.1210/jcem.80.11.7593417

PubMed ID: 8538347

Title: Hypertension in the syndrome of apparent mineralocorticoid excess due to mutation of the 11 beta-hydroxysteroid dehydrogenase type 2 gene.

PubMed ID: 8538347

DOI: 10.1016/s0140-6736(96)90211-1

PubMed ID: 2889032

Title: Mineralocorticoid activity of liquorice: 11-beta-hydroxysteroid dehydrogenase deficiency comes of age.

PubMed ID: 2889032

DOI: 10.1016/s0140-6736(87)91014-2

PubMed ID: 10497248

Title: The N-terminal anchor sequences of 11beta-hydroxysteroid dehydrogenases determine their orientation in the endoplasmic reticulum membrane.

PubMed ID: 10497248

DOI: 10.1074/jbc.274.40.28762

PubMed ID: 11350956

Title: The intracellular localization of the mineralocorticoid receptor is regulated by 11beta-hydroxysteroid dehydrogenase type 2.

PubMed ID: 11350956

DOI: 10.1074/jbc.m100374200

PubMed ID: 22796344

Title: Species-specific differences in the inhibition of human and zebrafish 11beta-hydroxysteroid dehydrogenase 2 by thiram and organotins.

PubMed ID: 22796344

DOI: 10.1016/j.tox.2012.07.001

PubMed ID: 27927697

Title: Absence of 11-keto reduction of cortisone and 11-ketotestosterone in the model organism zebrafish.

PubMed ID: 27927697

DOI: 10.1530/joe-16-0495

PubMed ID: 30902677

Title: Enzymatic interconversion of the oxysterols 7beta,25-dihydroxycholesterol and 7-keto,25-hydroxycholesterol by 11beta-hydroxysteroid dehydrogenase type 1 and 2.

PubMed ID: 30902677

DOI: 10.1016/j.jsbmb.2019.03.011

PubMed ID: 33387577

Title: Species-specific differences in the inhibition of 11beta-hydroxysteroid dehydrogenase 2 by itraconazole and posaconazole.

PubMed ID: 33387577

DOI: 10.1016/j.taap.2020.115387

PubMed ID: 7608290

Title: A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess.

PubMed ID: 7608290

DOI: 10.1210/jcem.80.7.7608290

PubMed ID: 7670488

Title: Human hypertension caused by mutations in the kidney isozyme of 11 beta-hydroxysteroid dehydrogenase.

PubMed ID: 7670488

DOI: 10.1038/ng0895-394

PubMed ID: 9398712

Title: A new compound heterozygous mutation in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess.

PubMed ID: 9398712

DOI: 10.1210/jcem.82.12.4455

PubMed ID: 9683587

Title: Molecular basis for hypertension in the 'type II variant' of apparent mineralocorticoid excess.

PubMed ID: 9683587

DOI: 10.1086/301955

PubMed ID: 9661590

Title: Examination of genotype and phenotype relationships in 14 patients with apparent mineralocorticoid excess.

PubMed ID: 9661590

DOI: 10.1210/jcem.83.7.4986

PubMed ID: 9851783

Title: The codon 213 of the 11beta-hydroxysteroid dehydrogenase type 2 gene is a hot spot for mutations in apparent mineralocorticoid excess.

PubMed ID: 9851783

DOI: 10.1210/jcem.83.12.5329

PubMed ID: 9707624

Title: A genetic defect resulting in mild low-renin hypertension.

PubMed ID: 9707624

DOI: 10.1073/pnas.95.17.10200

PubMed ID: 10489390

Title: Genetic, biochemical, and clinical studies of patients with A328V or R213C mutations in 11betaHSD2 causing apparent mineralocorticoid excess.

PubMed ID: 10489390

DOI: 10.1161/01.hyp.34.3.435

PubMed ID: 10523339

Title: Mutants of 11beta-hydroxysteroid dehydrogenase (11-HSD2) with partial activity: improved correlations between genotype and biochemical phenotype in apparent mineralocorticoid excess.

PubMed ID: 10523339

DOI: 10.1161/01.hyp.34.4.638

PubMed ID: 11238516

Title: A mutation in the cofactor-binding domain of 11beta-hydroxysteroid dehydrogenase type 2 associated with mineralocorticoid hypertension.

PubMed ID: 11238516

DOI: 10.1210/jcem.86.3.7334

PubMed ID: 12788846

Title: Two homozygous mutations in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess.

PubMed ID: 12788846

DOI: 10.1210/jc.2002-021909

PubMed ID: 17314322

Title: Impaired protein stability of 11beta-hydroxysteroid dehydrogenase type 2: a novel mechanism of apparent mineralocorticoid excess.

PubMed ID: 17314322

DOI: 10.1681/asn.2006111235

Sequence Information:

  • Length: 405
  • Mass: 44127
  • Checksum: 4AB269E269982D24
  • Sequence:
    • MERWPWPSGG AWLLVAARAL LQLLRSDLRL GRPLLAALAL LAALDWLCQR LLPPPAALAV 
LAAAGWIALS RLARPQRLPV ATRAVLITGC DSGFGKETAK KLDSMGFTVL ATVLELNSPG 
AIELRTCCSP RLRLLQMDLT KPGDISRVLE FTKAHTTSTG LWGLVNNAGH NEVVADAELS 
PVATFRSCME VNFFGALELT KGLLPLLRSS RGRIVTVGSP AGDMPYPCLG AYGTSKAAVA 
LLMDTFSCEL LPWGVKVSII QPGCFKTESV RNVGQWEKRK QLLLANLPQE LLQAYGKDYI 
EHLHGQFLHS LRLAMSDLTP VVDAITDALL AARPRRRYYP GQGLGLMYFI HYYLPEGLRR 
RFLQAFFISH CLPRALQPGQ PGTTPPQDAA QDPNLSPGPS PAVAR

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.