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HSD11B2 Gene

protein-coding GIFtS: 55

GC16P053338

hydroxysteroid (11-beta) dehydrogenase 2
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

		Products

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

Aliases & Descriptions
hydroxysteroid (11-beta) dehydrogenase 2¹ ²		HSD2²
HSD11K² ³ ⁵		AME²
SDR9C3¹ ²		corticosteroid 11-beta-dehydrogenase isozyme 2²
11-beta-hydroxysteroid dehydrogenase type 2² ³		short chain dehydrogenase/reductase family 9C member 3²
11-DH2² ³		AME1²
NAD-dependent 11-beta-hydroxysteroid dehydrogenase² ³		EC 1.1.1.-³
11-beta-HSD2² ³

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

Export aliases for HSD11B2 gene to outside databases

Previous GC identifers: GC16P058159 GC16P067842 GC16P067200 GC16P067242 GC16P067243 GC16P066022 GC16P067465

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
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)

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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the HSD11B2 gene promoter:
         SRY   C/EBPalpha   Sp1   ATF   ARP-1   HOXA9B   Meis-1   E2F-1   GATA-1   E2F
         Other transcription factors

Search SABiosciences Chromatin IP Primers for HSD11B2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays

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 gene densities for chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16P053338: view genomic region (about GC identifiers)

Start:	53,338,306 bp from pter
End:	53,344,605 bp from pter
Size:	6,300 bases
Orientation:	plus strand

1 alternative location:

Chr16+ 67,465,041-67,471,456

RefSeq DNA sequence:

NC_000016.9 NT_010498.15

(According to ¹UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
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 (Potential)

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 phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_000187.3

ENSEMBL proteins:

ENSP00000316786

Human Recombinant Proteins

	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: HSD11B2 OriGene Protein Over-expression Lysate: HSD11B2
	GenScript Custom Purified and Recombinant Proteins Services for HSD11B2
	Novus Biologicals Proteins for HSD11B2
	Novus Biologicals Lysates for HSD11B2
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins

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

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

About this table

HSD11B2 for ontologies About GeneDecksing

Antibodies for HSD11B2:

	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for HSD11B2
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies
	GenScript Custom Superior Antibodies Services for HSD11B2
	Novus Biologicals Antibodies for HSD11B2
	Browse antibodies at Epitomics

Assays for HSD11B2:

	Browse Kits and Assays available from Millipore
	Browse ELISAs at Sigma-Aldrich
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for HSD11B2
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

(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 UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
About This Section

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

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)

Enzyme Number (IUBMB): EC 1.1.1.-

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich siRNA Panels and esiRNA and siRNA for HSD11B2 Sigma-Aldrich shRNA for HSD11B2
		OriGene 29mer shRNA kits in GFP-retroviral vector: HSD11B2 OriGene shRNA RFP: HSD11B2 OriGene basic RS shRNA: HSD11B2 OriGene siRNA: HSD11B2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of HSD11B2

miRNA:		Sigma-Aldrich microRNA Mimics for HSD11B2 Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of HSD11B2
		1 SABiosciences Assays for microRNA that regulate HSD11B2:
		hsa-miR-526b

Gene
Editing:

Browse CompoZr Knockout ZFN at Sigma-Aldrich

Clones:		Browse Clones for the Expression of Recombinant Proteins Available from Millipore
		Browse iPSC Reprogramming Factors at Sigma-Aldrich
		OriGene GFP tagged cDNA clones in CMV expression vector: HSD11B2 OriGene Myc/DDK tagged cDNA clones in CMV expression vector: HSD11B2 OriGene untagged cDNA clones in CMV expression vector: HSD11B2 OriGene 3'-UTR clone: HSD11B2 Browse MicroRNA Expression Plasmids
		GenScript Custom cDNA clone Services for HSD11B2
		Browse Sino Biological Human cDNA Clones

Cell
Lines:

GenScript Custom overexpressing Cell Line Services for HSD11B2

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

5 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003845	11-beta-hydroxysteroid dehydrogenase activity	IEA	--
GO:0005488	binding	IEA	--
GO:0005496	steroid binding	IEA	--
GO:0016491	oxidoreductase activity	IEA	--
GO:0051287	NAD or NADH binding	IEA	--

About this table

HSD11B2 for ontologies About GeneDecksing

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

behavior/neurological	cardiovascular system	digestive/alimentary	homeostasis/metabolism	lethality-postnatal
life span-post-weaning/aging	muscle	no phenotypic analysis	normal	renal/urinary system

HSD11B2 for phenotypes About GeneDecksing

(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
About This Section

HSD11B2 for pathways About GeneDecksing

2 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for HSD11B2

	Androgen and Estrogen Metabolism
	C21-Steroid Hormone Metabolism

3 Kegg Pathways (Kegg details for HSD11B2):

	hsa00140 Steroid hormone biosynthesis
	hsa01100 Metabolic pathways
	hsa04960 Aldosterone-regulated sodium reabsorption

SABiosciences Custom Pathway-Focused PCR Arrays for HSD11B2

Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for HSD11B2

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

5/8 Interacting proteins for HSD11B2 (ENSP00000316786³) via UniProtKB, MINT, and/or STRING (see all 8)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
AKR1C4	ENSP00000263126³	STRING: ENSP00000263126
CYP11B1	ENSP00000366903³	STRING: ENSP00000366903
CYP11B2	ENSP00000325822³	STRING: ENSP00000325822
HSD3B1	ENSP00000358421³	STRING: ENSP00000358421
HSD3B2	ENSP00000358424³	STRING: ENSP00000358424

About this table

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

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	--

About this table

HSD11B2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

HSD11B2 for compounds About GeneDecksing

Sigma-Aldrich Small Molecules for HSD11B2:

Small Molecule - Inhibitor

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for HSD11B2
10/62 Novoseek chemical compound relationships for HSD11B2 gene (see all 62)

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)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore,
siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
About This Section

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich siRNA Panels and esiRNA and siRNA for HSD11B2 Sigma-Aldrich shRNA for HSD11B2
		OriGene 29mer shRNA kits in GFP-retroviral vector: HSD11B2 OriGene shRNA RFP: HSD11B2 OriGene basic RS shRNA: HSD11B2 OriGene siRNA: HSD11B2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of HSD11B2

miRNA:		Sigma-Aldrich microRNA Mimics for HSD11B2 Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of HSD11B2
		1 SABiosciences Assays for microRNA that regulate HSD11B2:
		hsa-miR-526b

Clones:		Browse FLAG tag genes at Sigma-Aldrich
		OriGene GFP tagged cDNA clones in CMV expression vector: HSD11B2 OriGene Myc/DDK tagged cDNA clones in CMV expression vector: HSD11B2 OriGene untagged cDNA clones in CMV expression vector: HSD11B2 OriGene 3'-UTR Clone: HSD11B2 Browse OriGene MicroRNA Expression Plasmids
		GenScript Custom cDNA clone Services for HSD11B2

Primers:		OriGene genome-wide validated SYBR primer pairs: HSD11B2 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for HSD11B2: PPH07072A

REFSEQ mRNAs for HSD11B2 gene:

NM_000196.3

Additional cDNA sequence:

BC036780.1 BC064536.1 CR599954.1 CR623797.1 CR626533.1 U14631.1 U26726.1

6 DOTS entries:

DT.445242 DT.100033727 DT.97843312 DT.100818675 DT.92425974 DT.92015220

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

BX091870 CB159248 BM789490 CR599954 BC064536 AI245191 BG055897 AI337719

CR626533 CD607801 CB852166 AI241836 BC036780 CF139622 AI261408 AI619788

AL541893 NM_000196 CR623797 BG333324 BM980611 CA944771 AA350247 BM826231

highest scoring ESTs for HSD11B2:

U26726 AA189088 AA233721 AA531303 AA535976 AA693998 AA706856 AA724770 AA873780 AA915966

Unigene Cluster for HSD11B2:

Hydroxysteroid (11-beta) dehydrogenase 2

Hs.1376 [show with all ESTs]

Unigene Representative Sequence: BC036780

GeneLoc Exon Structure

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

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

About this scheme

ECgene alternative splicing isoforms for HSD11B2
1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000326152(uc002etd.2)

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Primers from OriGene and/or SABiosciences )
About This Section

HSD11B2 expression in normal and diseased human tissues

¹ / ² / ³

3 probe-sets matching HSD11B2 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
39697_at²^{, 3}	U95-A	1	1.00	1.00	1.00	1.00	U26726	1.00	0.90	0.95	1
204130_at²^{, 3}	U133-A	1	0.82	1.00	--	--	NM_000196	0.60	1.00	0.82	1
204130_at²	U133Plus2	1	0.82	1.00	--	--	--	--	--	--	--

About this table

HSD11B2 for expression About GeneDecksing

Data from Genenote (Publications) and GNF BioGPS
About these images

HSD11B2 gene electronic northern expression

About these images

CGAP SAGE TAG: TACTGTACTT

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

Primers:		OriGene genome-wide validated SYBR primer pairs: HSD11B2 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for HSD11B2: PPH07072A

SABiosciences Custom PCR Arrays for HSD11B2

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for HSD11B2 gene from 5/7 species (see all 7)

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	HSD11B2¹	--	hydroxysteroid (11-beta) dehydrogenase 2	86.71(n) 88.29(a)	489758 XM_848842.1 XP_853935.1
chimpanzee (Pan troglodytes)	HSD11B2¹	--	hydroxysteroid (11-beta) dehydrogenase 2	99.67(n) 99.75(a)	468001 XM_523393.2 XP_523393.2
cow (Bos taurus)	HSD11B2¹	--	hydroxysteroid (11-beta) dehydrogenase 2	85.45(n) 84.04(a)	282434 NM_174642.1 NP_777067.1
rat (Rattus norvegicus)	Hsd11b2¹	--	hydroxysteroid 11-beta dehydrogenase 2	85.15(n) 87.59(a)	25117 NM_017081.1 NP_058777.1
mouse (Mus musculus)	Hsd11b2^{1 , 5}	8 (53.04 cM)⁵	hydroxysteroid 11-beta dehydrogenase 2^{1, 5}	84.16(n)¹ 86.75(a)¹	15484¹ NM_008289.2¹ NP_032315.2¹ AK155153⁵ BB618868⁵ (see all 9)

About this table Species with no ortholog for HSD11B2

ENSEMBL Gene Tree for HSD11B2 (if available)

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for HSD11B2 gene

RDH8² HSD17B1² HSD17B2² HSD17B1P1²

HSD11B2 for paralogs About GeneDecksing

(SNPs according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section

SNP ID	Valid	Chr 16 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
Genomic Data				Transcription Related Data				Allele Frequencies
			--	--	--		--	--
rs5479^1,2	C,F,A,	67469733(+)	`CACACC/AACCAG`	2	/T	syn¹ ref¹ ese³		10		MN NS EA	3062
rs5480^1,2	C,F,	67469969(+)	`GGCGCG/ACTCGA`	2	/A	syn¹ ref¹ ese³		15		MN NS EA	3534
rs5481^1,2	C	67471414(+)	`CCCAAT/ATGCCA`	1	--	ut3¹		6		MN NS EA	670
rs1139495^1,2	H	67469707(+)	`GCCGCG/TTTCTA`	2	V L	ref¹ mis¹ ese³		5		MN NS EA	590
rs1802795^1,2	--	67470977(+)	`GAAAAC/TCCCCA`	1	--	ut3¹		0	--	--	--	--
rs2549641^1,2	C	67463658(+)	`CCTCCA/TCCCAG`	1	--	ng5¹		4		NS EA	418
rs2549642^1,2	--	67464812(+)	`CGCAGC/TCAGGC`	1	--	ng5¹ tfbs³		0	--	--	--	--
rs2549643^1,2	--	67467719(+)	`GTTTTC/GAGTAG`	1	--	int¹		0	--	--	--	--
rs2549644^1,2	H	67467735(+)	`GTGGAG/CCTGAG`	1	--	int¹		4		NS EA	418
rs2549645^1,2	--	67470455(+)	`CCCTAC/GCTGAT`	1	--	int¹		0	--	--	--	--

About this table

HapMap Linkage Disequilibrium images for HSD11B2 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for HSD11B2: --

QIAGEN SeqTarget long-range PCR primers for resequencing HSD11B2

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
About This Section

HSD11B2 for disorders About GeneDecksing

OMIM: 218030

UniProtKB/Swiss-Prot: DHI2_HUMAN, P80365

Defects in HSD11B2 are the cause of apparent mineralocorticoid excess (AME) [MIM:218030]. AME is a potentially

fatal disease characterized by severe juvenile low-renin hypertension, sodium retention, hypokalemia and low levels of

aldosterone. It often leads to nephrocalcinosis

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

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)

About this table

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)

Human Gene Mutation Database (HGMD): HSD11B2
Genetic Association Database (GAD): HSD11B2
Human Genome Epidemiology (HuGE) Navigator: HSD11B2 (12 documents)

Export disorders and mutations for HSD11B2 gene to outside databases

(Possibly Related Articles in Doctor's Guide)
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(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶UniProtKB/TrEMBL, and/or ⁷Novoseek)
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10/351 PubMed articles for HSD11B2 gene, integrated from 7 sources (see all 351):
(articles sorted by number of sources associating them with HSD11B2)

Cloning and production of antisera to human placental 11 beta-hydroxysteroid dehydrogenase type 2. (PubMed id 8611140)^{1, 2, 3, 7} 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, 7} Mariniello B....Giacchetti G. (2005)
Role of HSD11B2 polymorphisms in essential hypertension and the diuretic response to thiazides. (PubMed id 15673310)^{1, 4, 7} 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, 7} 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, 7} Lavery G.G....Stewart P.M. (2002)
A genetic defect resulting in mild low-renin hypertension. (PubMed id 9707624)^{1, 2, 7} 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, 7} 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, 7} Wilson R.C.... New M.I. (1995)
Genetic analysis of 22 candidate genes for hypertension in the Japanese population. (PubMed id 15167446)^{1, 4, 7} Iwai N....Shioji K. (2004)

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

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(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 ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HSD11B2

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