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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

HSD11B2 Gene

protein-coding GIFtS: 61
GCID: GC16P067465

hydroxysteroid (11-beta) dehydrogenase 2

Explore 68 diseases affiliated with
HSD11B2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Hydroxysteroid (11-Beta) Dehydrogenase 2¹ ²		AME²
SDR9C3¹ ²		AME1²
-HSD11 Type II² ³		HSD2²
11-DH2² ³		Corticosteroid 11-Beta-Dehydrogenase Isozyme 2²
11-Beta-HSD2¹		Short Chain Dehydrogenase/Reductase Family 9C Member 3²
11-Beta-Hydroxysteroid Dehydrogenase Type 2² ³		11-Beta-HSD¹
11-Beta-Hydroxysteroid Dehydrogenase Type II² ³		EC 1.1.1.-³
HSD11K² ³		EC 1.1.1⁸
NAD-Dependent 11-Beta-Hydroxysteroid Dehydrogenase² ³

External Ids:	HGNC: 5209¹	Entrez Gene: 3291²	Ensembl: ENSG00000176387⁷	OMIM: 614232⁵	UniProtKB: P80365³

Export aliases for HSD11B2 gene to outside databases

Previous GC identifers: GC16P058159 GC16P067842 GC16P067200 GC16P067242 GC16P067243 GC16P066022 GC16P053338

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for HSD11B2:

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)

UniProtKB/Swiss-Prot: DHI2_HUMAN, P80365

Function: Catalyzes the conversion of cortisol to the inactive metabolite cortisone. Modulates intracellular

glucocorticoid levels, thus protecting the nonselective mineralocorticoid receptor from occupation by glucocorticoids

Gene Wiki entry for HSD11B2 (Corticosteroid 11-beta-dehydrogenase isozyme 2)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000016.9 NC_018927.1 NT_010498.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the HSD11B2 gene promoter:
SRY Sp1 Olf-1 CUTL1 HNF-4alpha2 HNF-4alpha1 C/EBPalpha
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for HSD11B2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HSD11B2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q22 Ensembl cytogenetic band: 16q22.1 HGNC cytogenetic band: 16q22

HSD11B2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HSD11B2 gene location

GeneLoc information about chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16P067465: view genomic region (about GC identifiers)

Start:	67,464,555 bp from pter	End:	67,471,456 bp from pter
Size:	6,902 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: DHI2_HUMAN, P80365 (See protein sequence)

Recommended Name: Corticosteroid 11-beta-dehydrogenase isozyme 2

Size: 405 amino acids; 44127 Da

Subunit: Interacts with ligand-free cytoplasmic NR3C2

Subcellular location: Microsome. Endoplasmic reticulum

Miscellaneous: Consumption of large amounts of liquorice can lead to apparent mineralocorticoid excess and hypertension

Secondary accessions: A7LB28 C5HTY7 Q13194 Q6P2G9 Q8N439 Q96QN8 Q9UC50 Q9UC51 Q9UCW5 Q9UCW6 Q9UCW7

Q9UCW8

Explore the universe of human proteins at neXtProt for HSD11B2: NX_P80365

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P80365

4/5 DME Specific Peptides for HSD11B2 (P80365) (see all 5)

GLVNNAG

TGCDSGFG

MGFTVLATVL

WPWPSGGAWLLV

HSD11B2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000187.3

ENSEMBL proteins:

ENSP00000462205 ENSP00000316786

Human Recombinant Protein Products for HSD11B2:

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Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	--	--
GO:0005783	endoplasmic reticulum	IEA	--
GO:0005792	microsome	--	--

HSD11B2 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HSD11B2 for domains About GeneDecksing

4 InterPro domains/families:

IPR020904 Sc_DH/Rdtase_CS

IPR002347 Glc/ribitol_DH

IPR002198 DH_sc/Rdtase_SDR

IPR016040 NAD(P)-bd_dom

Graphical View of Domain Structure for InterPro Entry P80365

ProtoNet protein and cluster: P80365

1 Blocks protein family: IPB002198 Short-chain dehydrogenase/reductase SDR

UniProtKB/Swiss-Prot: DHI2_HUMAN, P80365

Similarity: Belongs to the short-chain dehydrogenases/reductases (SDR) family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: DHI2_HUMAN, P80365

Function: Catalyzes the conversion of cortisol to the inactive metabolite cortisone. Modulates intracellular

glucocorticoid levels, thus protecting the nonselective mineralocorticoid receptor from occupation by glucocorticoids

Catalytic activity: An 11-beta-hydroxysteroid + NAD(+) = an 11-oxosteroid + NADH

Enzyme regulation: Inhibited by glycyrrhetinic acid (derived from liquorice), carbenoloxone and

11-alpha-OH-progesterone (By similarity)

Biophysicochemical properties: Kinetic parameters: KM=26.1 nM for cortisol (PubMed:12788846); KM=785 nM for cortisol

(PubMed:17314322); KM=77 nM for cortisterone; Vmax=64.1 nmol/h/mg enzyme toward cortisterone; Vmax=66 nmol/h/mg enzyme

toward cortisol; Note=X;

Genatlas biochemistry entry for HSD11B2:

hydroxysteroid dehydrogenase 11-beta 2,NAD dependent,kidney,interconversion of cortisol and cortisone,involved in the

protection of mineralocorticoid receptor,expressed in fetal adrenal gland and in adult adrenal cortical carcinoma and

adenoma

Enzyme Numbers (IUBMB): EC 1.1.1² EC 1.1.1.-¹

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003845	11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity	IEA	--
GO:0005496	steroid binding	IEA	--
GO:0016491	oxidoreductase activity	--	--
GO:0051287	NAD binding	IEA	--

HSD11B2 for ontologies About GeneDecksing

Phenotypes:
2 GenomeRNAi human phenotypes for HSD11B2:

G0/1 arrest

Increased G1 DNA content

10 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Hsd11b2):

behavior/neurological	cardiovascular system	cellular	digestive/alimentary	homeostasis/metabolism
mortality/aging	muscle	no phenotypic analysis	normal	renal/urinary system

HSD11B2 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Hsd11b2^tm1Yko for HSD11B2

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for HSD11B2

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HSD11B2

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Prostaglandin Synthesis and Regulation

Prostaglandin Synthesis and Regulation

1.00

Aldosterone-regulated sodium reabsorption

Aldosterone-regulated sodium reabsorption

1.00

Steroid hormone biosynthesis

Steroid hormone biosynthesis

1.00

Glucocorticoid biosynthesis

Glucocorticoid & Mineralcorticoid Metabolism

0.56

Metabolism

Metabolic pathways

0.38

Pathway sources
See GeneCards unified pathways
Show all pathways

2 BioSystems Pathways for HSD11B2

	Prostaglandin Synthesis and Regulation
	Glucocorticoid & Mineralcorticoid Metabolism

3 Kegg Pathways (Kegg details for HSD11B2):

	Steroid hormone biosynthesis
	Metabolic pathways
	Aldosterone-regulated sodium reabsorption

HSD11B2 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for HSD11B2

STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

5/13 Interacting proteins for HSD11B2 (P80365³ ENSP00000316786⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 13)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
KAT2A	Q92830³, ENSP00000225916⁴	I2D: score=1 STRING: ENSP00000225916
CTBP1	Q13363³, ENSP00000290921⁴	I2D: score=1 STRING: ENSP00000290921
HDAC1	Q13547³, ENSP00000362649⁴	I2D: score=1 STRING: ENSP00000362649
KAT2B	Q92831³, ENSP00000263754⁴	I2D: score=1 STRING: ENSP00000263754
AKR1C4	ENSP00000263126⁴	STRING: ENSP00000263126

About this table

Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001666	response to hypoxia	IEA	--
GO:0002017	regulation of blood volume by renal aldosterone	IEA	--
GO:0006704	glucocorticoid biosynthetic process	TAS	7859916
GO:0006950	response to stress	--	--
GO:0007565	female pregnancy	IEA	--

HSD11B2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

HSD11B2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for HSD11B2

10/14 HMDB Compounds for HSD11B2 (see all 14) About this table

Compound	Synonyms	CAS #	PubMed Ids
11-Dehydrocorticosterone	11-dehydro-Corticosterone (see all 15)	72-23-1	--
11b-Hydroxyandrost-4-ene-3,17-dione	Androst-4-ene-3,17-dione-11beta-ol (see all 3)	382-44-5	--
3a,21-Dihydroxy-5b-pregnane-11,20-dione	5beta-Pregnane-3alpha,21-diol-11,20-dione (see all 2)	566-03-0	--
Adrenosterone		382-45-6	--
Corticosterone	11,21-Dihydroxypregn-4-ene-3,20-dione (see all 8)	50-22-6	--
Cortisol	11-Hydrocortisone (see all 173)	50-23-7	--
Cortisone	Andreson (see all 45)	53-06-5	--
Glycyrrhetinic acid	Uralenic acid (see all 22)	471-53-4	--
NAD	3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)	53-84-9	--
NADH	1,4-Dihydronicotinamide adenine dinucleotide (see all 17)	58-68-4	--

1 DrugBank Compound for HSD11B2 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
NADH	beta-DPNH (see all 18)	606-68-8	target	--	1727721 17139284 17016423 8585102

10/62 Novoseek chemical compound relationships for HSD11B2 gene (see all 62) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
11beta-hydroxysteroid	98.7	325	11916625 (3), 14981055 (3), 7656579 (2), 8793860 (2) (see all 99)
cortisone	96.6	139	11350048 (3), 10760070 (2), 15643127 (2), 16079253 (2) (see all 98)
tetrahydrocortisone	93.3	9	11967038 (2), 16061836 (1), 11751713 (1), 16402926 (1) (see all 7)
allotetrahydrocortisol	91.4	6	16061836 (2), 11967038 (1), 16616286 (1), 16556718 (1)
tetrahydrocortisol	91.4	9	11967038 (1), 18178212 (1), 11751713 (1), 16616286 (1) (see all 6)
11-dehydrocorticosterone	89.2	4	9202239 (1), 7649078 (1), 10419017 (1), 11288760 (1)
carbenoxolone	85.1	12	10760076 (1), 12574078 (1), 15761540 (1), 16980198 (1) (see all 9)
glycyrrhetinic acid	84	18	15631868 (4), 12239243 (2), 12911547 (1), 11751713 (1) (see all 9)
glycyrrhizin	72.9	11	12943516 (1), 19429429 (1), 11751713 (1), 15761540 (1) (see all 9)
corticosterone	72	31	8967481 (2), 16872738 (2), 15223679 (1), 9202239 (1) (see all 17)

Search CenterWatch for drugs/clinical trials and news about HSD11B2 / DHI2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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About This Section

REFSEQ mRNAs for HSD11B2 gene:

NM_000196.3

Unigene Cluster for HSD11B2:

Hydroxysteroid (11-beta) dehydrogenase 2

Hs.1376 [show with all ESTs]

Unigene Representative Sequence: BC036780

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000567684 ENST00000326152(uc002etd.3) ENST00000569303 ENST00000566606

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Additional cDNA sequence:

BC036780.1 BC064536.1 U14631.1 U26726.1

5 DOTS entries:

DT.445242 DT.100033727 DT.97843312 DT.100818675 DT.92425974

24/154 AceView cDNA sequences (see all 154):

CB852166 AI127112 CR599954 BX091870 CD607801 AI261408 AI619788 CB159248

BC064536 CA944771 BM826231 BM789490 AL541893 BG333324 AI337719 BC036780

NM_000196 CR626533 AA350247 AI245191 BM980611 AI241836 CF139622 CR623797

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for HSD11B2 About this scheme

ExUns:	1	^	2a	·	2b	^	3a	·	3b	·	3c	^	4	^	5	^	6
SP1:							-
SP2:			-		-		-
SP3:

ECgene alternative splicing isoforms for HSD11B2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

HSD11B2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TACTGTACTT

About this image

HSD11B2 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Extraembryonic Mesoderm

Extraembryonic Capillary Plexus

Extraembryonic Angioblasts

Endothelium

Brain

Neural Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

Line H9 (WA09) (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

See HSD11B2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for HSD11B2

SOURCE GeneReport for Unigene cluster: Hs.1376

UniProtKB/Swiss-Prot: DHI2_HUMAN, P80365

Tissue specificity: Found in placenta, kidney, pancreas, prostate, ovary, small intestine and colon

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the last universal common ancestor (LUCA).

Orthologs for HSD11B2 gene from 7/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	LOC100858361¹	corticosteroid 11-beta-dehydrogenase isozyme 2-like	65.36(n) 58.64(a)		100858361 XM_003641890.1 XP_003641938.1
lizard (Anolis carolinensis)	Reptilia	HSD11B2⁶ -- (see all 5)	--	67(a) 23(a) (see all 5)	1 ↔ 1 possible ortholog (see all 5)	GL344971.1(12276-14666) 6(68513343-68523966)
zebrafish (Danio rerio)	Actinopterygii	hsd11b2¹	hydroxysteroid 11-beta dehydrogenase 2	53.65(n) 49.41(a)		334098 NM_212720.1 NP_997885.1
fruit fly (Drosophila melanogaster)	Insecta	sro⁶ CG8888⁶	--	23(a) 22(a)	1 ↔ many possible ortholog	3R(25620358-25621420) 2R(7952070-7967048)
thale cress (Arabidopsis thaliana)	eudicotyledons	AT5G10050⁶ AT5G65205⁶	1-acylglycerone phosphate reductase Rossmann-fold NAD(P)-binding domain-containing pro...	22(a) 21(a)	possible ortholog possible ortholog	5(3144200-3145730) 5(26050810-26052034)
rice (Oryza sativa)	Liliopsida	-- --	oxidoreductase, short chain dehydrogenase/reductas... oxidoreductase, short chain dehydrogenase/reductas...	22(a) 21(a)	possible ortholog possible ortholog	12(27135120-27136028) 4(22652738-22655412)
E. coli (Escherichia coli)	Gamma proteobacteria	ybbO⁶	predicted oxidoreductase with NAD(P)-binding Rossm...	26(a)	possible ortholog	Chromosome(517564-518373)

ENSEMBL Gene Tree for HSD11B2 (if available)
TreeFam Gene Tree for HSD11B2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for HSD11B2 gene

SDR9C7² DHRS9² HSD17B6² HSD17B2² BDH1² RDH8² RDH16² DHRS7B²

DHRS7² HSD17B1² KDSR² DHRS7C² RDH5²

5 SIMAP similar genes for HSD11B2 using alignment to 2 protein entries: DHI2_HUMAN (see all proteins):

HSD17B2 BDH1 DHRS9 RDH16 RDH5

HSD11B2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 16 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs5480^1,2	C,F,H	non-pathogenic	67469969(+)	`GGCGCG/ACTCGA`	2	/A	syn¹ ese³		22		MN NS EA NA WA CSA EU	9567
rs28934594^1,2	C	pathogenic	67470523(+)	`AAAAGC/TGCAAG`	2	R C	mis¹		1		NA	2
rs56387366^1,2	C,F	--	53344666(+)	`TGGCCG/ATGTGA`	1	--	ds500¹		3		NS WA	212
rs56189560^1,2	C,F	--	53344705(+)	`GGAGGC/GTGGGA`	1	--	ds500¹		3		NS	1206
rs55820238^1,2	C,F	--	53344707(+)	`AGGCTG/CGGATT`	1	--	ds500¹		3		NS	1206
rs9931612^1,2	C,F,H	--	53344854(+)	`GGGGGC/ACTCCA`	1	--	ds500¹		14		NS NA WA	2642
rs56300409^1,2	C	--	53345059(+)	`AACGAG/CACAGC`	1	--	ds500¹		5		NS WA	1312
rs4360931^1,2	C,A,H	--	53345075(+)	`GTTGGC/GCTTAG`	1	--	ut3¹		13		NA NS WA CSA	1621
rs1053293^1,2	C,A	--	53345105(-)	`TGCCCC/TTCTGA`	1	--	ut3¹		6		MN NS NA WA	1518
rs184524728^1,2		--	67463120(+)	`CTTCTA/GCTCCC`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for HSD11B2 (67464555 - 67471456 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for HSD11B2: --
Human Gene Mutation Database (HGMD): HSD11B2

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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HSD11B2 for disorders About GeneDecksing

OMIM gene information: 614232 OMIM disorders: --

UniProtKB/Swiss-Prot: DHI2_HUMAN, P80365

Defects in HSD11B2 are the cause of apparent mineralocorticoid excess (AME) [MIM:218030]. An autosomal

recessive form of low-renin hypertension. It is usually diagnosed within the first years of life and is characterized

by polyuria and polydipsia, failure to thrive, hypernatremia, severe hypertension with low renin and aldosterone

levels, profound hypokalemia with metabolic alkalosis, and most often nephrocalcinosis

20/68 diseases for HSD11B2 (see all 68): About MalaCards

north american indian childhood cirrhosis apparent mineralocorticoid excess syndrome hypertension aldosteronism

adrenal gland hyperfunction low renin hypertension patent ductus arteriosus pre-eclampsia

growth hormone deficiency adrenal cortical carcinoma liddle syndrome cortisol resistance

type 1 diabetes mellitus cushing's syndrome inflammatory bowel disease adrenal adenoma

diabetes mellitus glucocorticoid resistance insulin resistance essential hypertension

5 diseases from the University of Copenhagen DISEASES database for HSD11B2:

Apparent mineralocorticoid excess syndrome Hypertension Hypokalemia Cushing's syndrome

Hyperaldosteronism

10/47 Novoseek disease relationships for HSD11B2 gene (see all 47) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
mineralocorticoid hypertension	81.2	5	9683587 (1), 15478032 (1), 15761540 (1), 17035606 (1) (see all 5)
low renin hypertension	70.7	1	15643127 (1)
hypokalemia	67.4	12	19150652 (2), 17314322 (1), 15134813 (1), 12788832 (1) (see all 5)
essential hypertension	60.1	20	9856363 (3), 10760070 (2), 16109323 (2), 14981055 (2) (see all 14)
intrauterine growth retardation	53.9	18	11600574 (4), 18061258 (1), 9619527 (1), 15591138 (1) (see all 9)
acth syndrome ectopic	51.7	1	15761540 (1)
cushing syndrome	48.3	7	12574226 (3), 15761540 (2), 12450320 (1)
choriocarcinoma	43.7	8	8865170 (2), 10377029 (1), 11118322 (1), 10026096 (1) (see all 6)
liddles syndrome	39.2	1	11701681 (1)
preeclampsia	38.8	13	12911547 (2), 19047954 (2), 11238526 (2), 17532462 (2) (see all 6)

Genatlas disease: HSD11B2

hypertension,hyporeninemia,hypoaldosteronemia,hypokalemic metabolic alkalosis and apparent mineralocorticoid

excess,including a severe form associated with failure to thrive,poor growth,nephrocalcinosis and sudden fatality

(type I) and a mild form characterized by low-renin hypertension (type II)

Genetic Association Database (GAD): HSD11B2
Human Genome Epidemiology (HuGE) Navigator: HSD11B2 (13 documents)

Export disorders for HSD11B2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for HSD11B2 gene, integrated from 9 sources (see all 373):
(articles sorted by number of sources associating them with HSD11B2)

Utopia: connect your pdf to the dynamic
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Cloning and production of antisera to human placental 11 beta-hydroxysteroid dehydrogenase type 2. (PubMed id 8611140)^{1, 2, 3, 9} Brown R.W....Seckl J.R. (1996)
Cloning and tissue distribution of the human 11 beta-hydroxysteroid dehydrogenase type 2 enzyme. (PubMed id 7859916)^{1, 2, 3} Albiston A.L.... Krozowski Z.S. (1994)
Analysis of the 11beta-hydroxysteroid dehydrogenase type 2 gene (HSD11B2) in human essential hypertension. (PubMed id 16109323)^{1, 4, 9} Mariniello B....Giacchetti G. (2005)
Role of HSD11B2 polymorphisms in essential hypertension and the diuretic response to thiazides. (PubMed id 15673310)^{1, 4, 9} Williams T.A....Glorioso N. (2005)
The intracellular localization of the mineralocorticoid receptor is regulated by 11beta-hydroxysteroid dehydrogenase type 2. (PubMed id 11350956)^{1, 2, 9} Odermatt A.... Frey F.J. (2001)
Association studies between the HSD11B2 gene (encoding human 11beta-hydroxysteroid dehydrogenase type 2), type 1 diabetes mellitus and diabetic nephropathy. (PubMed id 11916625)^{1, 4, 9} Lavery G.G....Stewart P.M. (2002)
Two homozygous mutations in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess. (PubMed id 12788846)^{1, 2, 9} Carvajal C.A....Fardella C.E. (2003)
A genetic defect resulting in mild low-renin hypertension. (PubMed id 9707624)^{1, 2, 9} Wilson R.C....New M.I. (1998)
Purification of 11 beta-hydroxysteroid dehydrogenase type 2 from human placenta utilizing a novel affinity labelling technique. (PubMed id 8611186)^{1, 2, 9} Brown R.W.... Seckl J.R. (1996)
Several homozygous mutations in the gene for 11 beta-hydroxysteroid dehydrogenase type 2 in patients with apparent mineralocorticoid excess. (PubMed id 7593417)^{1, 2, 9} Wilson R.C.... New M.I. (1995)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 3291	HGNC: 5209	AceView: HSD11B2	Ensembl:ENSG00000176387	euGenes: HUgn3291
ECgene: HSD11B2	Kegg: 3291	H-InvDB: HSD11B2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for HSD11B2	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HSD11B2

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HSD11B2 Gene

hydroxysteroid (11-beta) dehydrogenase 2

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HSD11B2 Gene

hydroxysteroid (11-beta) dehydrogenase 2

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