HSD11B2 (hydroxysteroid 11-beta dehydrogenase 2) - Rat Genome Database
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Gene: HSD11B2 (hydroxysteroid 11-beta dehydrogenase 2) Homo sapiens
Analyze
Symbol: HSD11B2
Name: hydroxysteroid 11-beta dehydrogenase 2
RGD ID: 737468
HGNC Page HGNC
Description: Predicted to have 11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity; NAD binding activity; and steroid binding activity. Predicted to be involved in glucocorticoid biosynthetic process. Predicted to localize to endoplasmic reticulum membrane. Implicated in apparent mineralocorticoid excess syndrome; hypertension; inherited metabolic disorder; obesity; and type 1 diabetes mellitus. Biomarker of type 1 diabetes mellitus and type 2 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: -HSD11 type II; 11-beta-HSD; 11-beta-HSD type II; 11-beta-HSD2; 11-beta-hydroxysteroid dehydrogenase type 2; 11-beta-hydroxysteroid dehydrogenase type II; 11-DH2; 11-HSD type II; AME; AME1; corticosteroid 11-beta-dehydrogenase isozyme 2; HSD11K; HSD2; hydroxysteroid (11-beta) dehydrogenase 2; NAD-dependent 11-beta-hydroxysteroid dehydrogenase; SDR9C3; short chain dehydrogenase/reductase family 9C member 3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1667,430,652 - 67,437,553 (+)EnsemblGRCh38hg38GRCh38
GRCh381667,431,121 - 67,437,553 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371667,465,036 - 67,471,456 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361666,022,537 - 66,028,957 (+)NCBINCBI36hg18NCBI36
Build 341666,022,536 - 66,028,953NCBI
Celera1651,973,237 - 51,979,660 (+)NCBI
Cytogenetic Map16q22.1NCBI
HuRef1653,338,306 - 53,344,605 (+)NCBIHuRef
CHM1_11668,872,417 - 68,878,837 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-nicotine  (EXP,ISO)
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (EXP,ISO)
1,1-dichloroethene  (ISO)
1,4-dithiothreitol  (EXP,ISO)
1,7-dimethylxanthine  (EXP)
11-dehydrocorticosterone  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-trinitrotoluene  (ISO)
2,4-dinitrotoluene  (ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (EXP)
4-nonylphenol  (EXP)
4-octylphenol  (EXP)
5-aza-2'-deoxycytidine  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
actinomycin D  (EXP)
aflatoxin B1  (ISO)
aldehydo-D-glucose  (ISO)
ammonium chloride  (ISO)
arsenic acid  (ISO)
atrazine  (EXP)
azathioprine  (EXP)
baicalein  (EXP)
beclomethasone  (EXP)
benzo[a]pyrene  (EXP)
betamethasone  (EXP,ISO)
bexarotene  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bromobenzene  (ISO)
C60 fullerene  (ISO)
cadmium atom  (EXP)
caffeine  (EXP,ISO)
calcitriol  (EXP)
CARBENOXOLONE  (EXP,ISO)
chloroprene  (ISO)
colforsin daropate hydrochloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
corticosterone  (ISO)
cortisol  (EXP)
cortisone  (EXP)
cosyntropin  (EXP)
cycloheximide  (EXP)
cyclosporin A  (EXP)
D-glucose  (ISO)
danazol  (EXP)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
dibutyl phthalate  (EXP,ISO)
dibutylstannane  (EXP)
dicrotophos  (EXP)
Dicyclohexyl phthalate  (EXP,ISO)
diethyldithiocarbamic acid  (EXP)
diethylstilbestrol  (ISO)
dipentyl phthalate  (ISO)
diphenylstannane  (EXP)
dipropyl phthalate  (EXP,ISO)
disulfiram  (EXP)
docebenone  (EXP)
dorsomorphin  (EXP)
doxorubicin  (ISO)
elemental selenium  (ISO)
endosulfan  (ISO)
entinostat  (EXP)
ethanol  (EXP,ISO)
fentin chloride  (EXP)
fludioxonil  (EXP)
fluoxymesterone  (EXP)
flurbiprofen  (ISO)
genistein  (EXP,ISO)
gentamycin  (ISO)
glucose  (ISO)
glycyrrhetinate  (EXP,ISO)
glycyrrhetinic acid  (EXP,ISO)
glycyrrhizinic acid  (ISO)
hydrogen peroxide  (EXP)
indometacin  (EXP)
ketoconazole  (EXP)
L-1,4-dithiothreitol  (EXP,ISO)
leflunomide  (ISO)
leukotriene B4  (EXP)
lithium atom  (ISO)
lithium hydride  (ISO)
maneb  (EXP)
masoprocol  (EXP)
medroxyprogesterone acetate  (EXP)
menadione  (EXP)
mercury dichloride  (ISO)
metyrapone  (EXP)
mifepristone  (EXP)
mono(2-ethylhexyl) phthalate  (EXP,ISO)
Monobutylphthalate  (ISO)
N-acetyl-L-cysteine  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
N-ethylmaleimide  (EXP)
N-Nitrosopyrrolidine  (EXP)
NAD zwitterion  (EXP,ISO)
NAD(+)  (EXP,ISO)
NADP zwitterion  (EXP)
NADP(+)  (EXP)
nickel atom  (EXP)
nicotine  (EXP,ISO)
oxymetholone  (EXP)
paracetamol  (EXP,ISO)
PCB138  (ISO)
perfluorooctanoic acid  (EXP)
prednisolone  (EXP)
procainamide  (EXP,ISO)
progesterone  (EXP)
prostaglandin E2  (EXP)
prostaglandin F2alpha  (EXP,ISO)
pyrrolidine dithiocarbamate  (EXP)
quercetin  (ISO)
SB 431542  (EXP)
selenium atom  (ISO)
silicon dioxide  (EXP,ISO)
sodium arsenate  (EXP)
sodium arsenite  (EXP)
sodium chloride  (ISO)
spironolactone  (ISO)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
thalidomide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
tributylstannane  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (ISO)
triphenylstannane  (EXP,ISO)
urethane  (EXP)
valproic acid  (EXP)
vecuronium bromide  (EXP)
vitamin E  (ISO)
zileuton  (EXP)
zinc atom  (ISO)
zinc(0)  (ISO)
zineb  (EXP)
ziram  (EXP,ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:2845584   PMID:2889032   PMID:7593417   PMID:7608290   PMID:7656579   PMID:7670488   PMID:7859916   PMID:8530071   PMID:8547170   PMID:8611140   PMID:8611186   PMID:9034789  
PMID:9398712   PMID:9661590   PMID:9707624   PMID:9851783   PMID:10489390   PMID:10523339   PMID:10948076   PMID:11238516   PMID:11350956   PMID:11711524   PMID:11755176   PMID:11787058  
PMID:11850421   PMID:11956655   PMID:12015312   PMID:12082639   PMID:12109593   PMID:12161498   PMID:12364476   PMID:12417987   PMID:12477932   PMID:12519895   PMID:12574226   PMID:12642869  
PMID:12788832   PMID:12788846   PMID:12860834   PMID:12878208   PMID:12911547   PMID:14629298   PMID:14681848   PMID:14981055   PMID:15167446   PMID:15172126   PMID:15305225   PMID:15466942  
PMID:15489334   PMID:15489962   PMID:15591138   PMID:15643119   PMID:15643127   PMID:15673310   PMID:16061836   PMID:16109323   PMID:16144812   PMID:16271275   PMID:16272800   PMID:16406280  
PMID:16778331   PMID:16804865   PMID:16872738   PMID:16979406   PMID:17028049   PMID:17515840   PMID:17551100   PMID:18032417   PMID:18061258   PMID:18178212   PMID:18378698   PMID:18388900  
PMID:18408592   PMID:18421276   PMID:18456686   PMID:18573267   PMID:18716005   PMID:18837962   PMID:19022342   PMID:19027726   PMID:19048413   PMID:19150652   PMID:19218882   PMID:19292059  
PMID:19336370   PMID:19535674   PMID:19542242   PMID:19811365   PMID:19880179   PMID:19909806   PMID:20214802   PMID:20486282   PMID:20571110   PMID:20597806   PMID:20624455   PMID:20800085  
PMID:21237268   PMID:21767875   PMID:21794917   PMID:21825133   PMID:21880714   PMID:22001010   PMID:22239940   PMID:22359645   PMID:22432047   PMID:22632162   PMID:22719058   PMID:22796344  
PMID:22872687   PMID:22959142   PMID:22971074   PMID:23303402   PMID:23329753   PMID:23333641   PMID:23357976   PMID:23362866   PMID:23443726   PMID:23446772   PMID:23659736   PMID:23714681  
PMID:23966319   PMID:23979790   PMID:24040322   PMID:24054540   PMID:24129435   PMID:24147632   PMID:24149070   PMID:24169559   PMID:24189979   PMID:24262137   PMID:24447082   PMID:24517145  
PMID:24685985   PMID:24729284   PMID:24810847   PMID:24971590   PMID:25133511   PMID:25200528   PMID:25331012   PMID:25459891   PMID:25572238   PMID:25666420   PMID:25788665   PMID:25907225  
PMID:26011146   PMID:26115144   PMID:26126204   PMID:26343289   PMID:26462907   PMID:26585459   PMID:26593902   PMID:26760575   PMID:26798634   PMID:26822444   PMID:26963327   PMID:27013342  
PMID:27018008   PMID:27034005   PMID:27379371   PMID:27507896   PMID:27526338   PMID:27686600   PMID:27697223   PMID:28180242   PMID:28302719   PMID:28320863   PMID:28502862   PMID:28611215  
PMID:28797028   PMID:28938454   PMID:29100173   PMID:29229168   PMID:29229831   PMID:29523277   PMID:30825506   PMID:30833369   PMID:30902677   PMID:31039398   PMID:31225872   PMID:33098869  
PMID:33238679  


Genomics

Comparative Map Data
HSD11B2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1667,430,652 - 67,437,553 (+)EnsemblGRCh38hg38GRCh38
GRCh381667,431,121 - 67,437,553 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371667,465,036 - 67,471,456 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361666,022,537 - 66,028,957 (+)NCBINCBI36hg18NCBI36
Build 341666,022,536 - 66,028,953NCBI
Celera1651,973,237 - 51,979,660 (+)NCBI
Cytogenetic Map16q22.1NCBI
HuRef1653,338,306 - 53,344,605 (+)NCBIHuRef
CHM1_11668,872,417 - 68,878,837 (+)NCBICHM1_1
Hsd11b2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398106,245,378 - 106,250,620 (+)NCBIGRCm39mm39
GRCm388105,518,746 - 105,523,988 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8105,518,755 - 105,523,988 (+)EnsemblGRCm38mm10GRCm38
MGSCv378108,042,646 - 108,047,888 (+)NCBIGRCm37mm9NCBIm37
MGSCv368108,407,983 - 108,412,647 (+)NCBImm8
Celera8109,741,823 - 109,747,238 (+)NCBICelera
Cytogenetic Map8D3NCBI
cM Map853.04NCBI
Hsd11b2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.01937,476,083 - 37,481,326 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1937,476,095 - 37,481,307 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01948,341,841 - 48,347,084 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41935,336,342 - 35,341,585 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11935,341,222 - 35,346,466 (+)NCBI
Celera1932,826,007 - 32,831,250 (+)NCBICelera
Cytogenetic Map19q12NCBI
Hsd11b2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554849,206,681 - 9,212,356 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554849,206,681 - 9,212,356 (-)NCBIChiLan1.0ChiLan1.0
HSD11B2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11667,150,354 - 67,171,417 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1667,165,215 - 67,171,417 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01647,776,118 - 47,782,861 (+)NCBIMhudiblu_PPA_v0panPan3
HSD11B2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl581,966,937 - 81,968,991 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1581,966,397 - 81,970,301 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Hsd11b2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_00493647517,882,663 - 17,888,708 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HSD11B2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl628,083,955 - 28,089,672 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1628,084,087 - 28,089,256 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2625,351,178 - 25,356,346 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HSD11B2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1560,017,967 - 60,040,959 (-)NCBI
ChlSab1.1 Ensembl560,019,434 - 60,025,353 (-)Ensembl
Hsd11b2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474618,883,587 - 18,889,205 (-)NCBI

Position Markers
RH64980  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371667,471,183 - 67,471,341UniSTSGRCh37
Build 361666,028,684 - 66,028,842RGDNCBI36
Celera1651,979,387 - 51,979,545RGD
Cytogenetic Map16q22UniSTS
HuRef1653,344,332 - 53,344,490UniSTS
AF071493  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371667,467,473 - 67,467,664UniSTSGRCh37
Build 361666,024,974 - 66,025,165RGDNCBI36
Celera1651,975,677 - 51,975,868RGD
Cytogenetic Map16q22UniSTS
HuRef1653,340,622 - 53,340,813UniSTS
RH70275  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371667,471,205 - 67,471,336UniSTSGRCh37
Build 361666,028,706 - 66,028,837RGDNCBI36
Celera1651,979,409 - 51,979,540RGD
Cytogenetic Map16q22UniSTS
HuRef1653,344,354 - 53,344,485UniSTS
GeneMap99-GB4 RH Map16408.7UniSTS
NCBI RH Map16508.6UniSTS
SHGC-33002  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371667,470,654 - 67,470,805UniSTSGRCh37
Build 361666,028,155 - 66,028,306RGDNCBI36
Celera1651,978,858 - 51,979,009RGD
Cytogenetic Map16q22UniSTS
HuRef1653,343,803 - 53,343,954UniSTS
GeneMap99-GB4 RH Map16403.23UniSTS
Whitehead-RH Map16301.6UniSTS
NCBI RH Map16508.6UniSTS
WI-9392  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371667,471,134 - 67,471,259UniSTSGRCh37
Build 361666,028,635 - 66,028,760RGDNCBI36
Celera1651,979,338 - 51,979,463RGD
Cytogenetic Map16q22UniSTS
HuRef1653,344,283 - 53,344,408UniSTS
GeneMap99-GB4 RH Map16402.35UniSTS
Whitehead-RH Map16301.6UniSTS
NCBI RH Map16508.6UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1131
Count of miRNA genes:672
Interacting mature miRNAs:759
Transcripts:ENST00000326152, ENST00000566606, ENST00000567684, ENST00000569303
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 12 29
Medium 791 4 688 198 270 45 1540 23 365 276 755 787 154 83 712 3
Low 1361 1027 976 420 332 415 1589 1160 2720 96 674 784 16 932 1053 1
Below cutoff 263 1835 52 4 1047 4 1196 993 616 17 16 33 188 1005

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000326152   ⟹   ENSP00000316786
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1667,431,121 - 67,437,553 (+)Ensembl
RefSeq Acc Id: ENST00000566606   ⟹   ENSP00000473429
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1667,431,366 - 67,436,134 (+)Ensembl
RefSeq Acc Id: ENST00000567684
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1667,430,652 - 67,436,261 (+)Ensembl
RefSeq Acc Id: ENST00000569303
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1667,431,122 - 67,433,184 (+)Ensembl
RefSeq Acc Id: NM_000196   ⟹   NP_000187
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,431,121 - 67,437,553 (+)NCBI
GRCh371667,465,036 - 67,471,456 (+)ENTREZGENE
Build 361666,022,537 - 66,028,957 (+)NCBI Archive
HuRef1653,338,306 - 53,344,605 (+)ENTREZGENE
CHM1_11668,872,417 - 68,878,837 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000187   ⟸   NM_000196
- UniProtKB: P80365 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000316786   ⟸   ENST00000326152
RefSeq Acc Id: ENSP00000473429   ⟸   ENST00000566606

Promoters
RGD ID:6793180
Promoter ID:HG_KWN:24036
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562
Transcripts:OTTHUMT00000268826
Position:
Human AssemblyChrPosition (strand)Source
Build 361666,022,066 - 66,022,827 (+)MPROMDB
RGD ID:7232547
Promoter ID:EPDNEW_H22019
Type:initiation region
Name:HSD11B2_3
Description:hydroxysteroid 11-beta dehydrogenase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22020  EPDNEW_H22021  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,429,801 - 67,429,861EPDNEW
RGD ID:7232549
Promoter ID:EPDNEW_H22020
Type:initiation region
Name:HSD11B2_2
Description:hydroxysteroid 11-beta dehydrogenase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22019  EPDNEW_H22021  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,430,629 - 67,430,689EPDNEW
RGD ID:7232551
Promoter ID:EPDNEW_H22021
Type:multiple initiation site
Name:HSD11B2_1
Description:hydroxysteroid 11-beta dehydrogenase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22019  EPDNEW_H22020  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,431,122 - 67,431,182EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000196.4(HSD11B2):c.664+14C>T single nucleotide variant Apparent mineralocorticoid excess [RCV000024126] Chr16:67436156 [GRCh38]
Chr16:67470059 [GRCh37]
Chr16:16q22.1
pathogenic
NM_000196.4(HSD11B2):c.77_78del (p.Arg25_Ser26insTer) deletion Apparent mineralocorticoid excess [RCV000024128] Chr16:67431325..67431326 [GRCh38]
Chr16:67465228..67465229 [GRCh37]
Chr16:16q22.1
pathogenic
NM_000196.4(HSD11B2):c.343_348del (p.Glu115_Leu116del) deletion Apparent mineralocorticoid excess [RCV000761442]|Apparent mineralocorticoid excess, mild [RCV000012882] Chr16:67435702..67435707 [GRCh38]
Chr16:67469605..67469610 [GRCh37]
Chr16:16q22.1
pathogenic|uncertain significance
NM_000196.4(HSD11B2):c.895_897del (p.Tyr299del) deletion Apparent mineralocorticoid excess [RCV000012884] Chr16:67436678..67436680 [GRCh38]
Chr16:67470581..67470583 [GRCh37]
Chr16:16q22.1
pathogenic
NM_000196.4(HSD11B2):c.440G>A (p.Arg147His) single nucleotide variant not specified [RCV000518271] Chr16:67435802 [GRCh38]
Chr16:67469705 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_000196.4(HSD11B2):c.1012T>C (p.Tyr338His) single nucleotide variant Apparent mineralocorticoid excess [RCV000024127] Chr16:67436797 [GRCh38]
Chr16:67470700 [GRCh37]
Chr16:16q22.1
pathogenic
NM_000196.4(HSD11B2):c.588G>A (p.Ala196=) single nucleotide variant Apparent mineralocorticoid excess [RCV000030038] Chr16:67436066 [GRCh38]
Chr16:67469969 [GRCh37]
Chr16:16q22.1
benign
NM_000196.4(HSD11B2):c.622C>T (p.Arg208Cys) single nucleotide variant Apparent mineralocorticoid excess [RCV000012874] Chr16:67436100 [GRCh38]
Chr16:67470003 [GRCh37]
Chr16:16q22.1
pathogenic|conflicting interpretations of pathogenicity
NM_000196.4(HSD11B2):c.637C>T (p.Arg213Cys) single nucleotide variant Apparent mineralocorticoid excess [RCV000012875] Chr16:67436115 [GRCh38]
Chr16:67470018 [GRCh37]
Chr16:16q22.1
pathogenic
NM_000196.4(HSD11B2):c.1009C>T (p.Arg337Cys) single nucleotide variant Apparent mineralocorticoid excess [RCV000012876] Chr16:67436794 [GRCh38]
Chr16:67470697 [GRCh37]
Chr16:16q22.1
pathogenic
NM_000196.4(HSD11B2):c.623G>A (p.Arg208His) single nucleotide variant Apparent mineralocorticoid excess [RCV000012877] Chr16:67436101 [GRCh38]
Chr16:67470004 [GRCh37]
Chr16:16q22.1
pathogenic
NM_000196.3(HSD11B2):c.1010_1012delGCT (p.Arg337_Tyr338delinsHis) deletion Apparent mineralocorticoid excess [RCV000012878] Chr16:67436795..67436797 [GRCh38]
Chr16:67470698..67470700 [GRCh37]
Chr16:16q22.1
pathogenic
NM_000196.4(HSD11B2):c.835C>T (p.Arg279Cys) single nucleotide variant Apparent mineralocorticoid excess [RCV000012879] Chr16:67436620 [GRCh38]
Chr16:67470523 [GRCh37]
Chr16:16q22.1
pathogenic
NM_000196.4(HSD11B2):c.680C>T (p.Pro227Leu) single nucleotide variant Apparent mineralocorticoid excess, mild [RCV000012881] Chr16:67436264 [GRCh38]
Chr16:67470167 [GRCh37]
Chr16:16q22.1
pathogenic
NM_000196.4(HSD11B2):c.667G>A (p.Asp223Asn) single nucleotide variant Apparent mineralocorticoid excess [RCV000012883] Chr16:67436251 [GRCh38]
Chr16:67470154 [GRCh37]
Chr16:16q22.1
pathogenic
GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3 copy number gain See cases [RCV000052405] Chr16:56883592..71279975 [GRCh38]
Chr16:56917504..71313878 [GRCh37]
Chr16:55475005..69871379 [NCBI36]
Chr16:16q13-22.2
pathogenic
GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3 copy number gain See cases [RCV000052408] Chr16:58456122..74708723 [GRCh38]
Chr16:58490026..74742621 [GRCh37]
Chr16:57047527..73300122 [NCBI36]
Chr16:16q21-23.1
pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 copy number gain See cases [RCV000052421] Chr16:65313395..90081985 [GRCh38]
Chr16:65347298..90148393 [GRCh37]
Chr16:63904799..88675894 [NCBI36]
Chr16:16q21-24.3
pathogenic
GRCh38/hg38 16q21-22.1(chr16:62179331-67770414)x1 copy number loss See cases [RCV000053333] Chr16:62179331..67770414 [GRCh38]
Chr16:62213235..67804317 [GRCh37]
Chr16:60770736..66361818 [NCBI36]
Chr16:16q21-22.1
pathogenic
GRCh38/hg38 16q21-22.1(chr16:63318997-70555249)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053334]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053334]|See cases [RCV000053334] Chr16:63318997..70555249 [GRCh38]
Chr16:63352901..70589152 [GRCh37]
Chr16:61910402..69146653 [NCBI36]
Chr16:16q21-22.1
pathogenic
GRCh38/hg38 16q21-22.1(chr16:64311275-68062011)x1 copy number loss See cases [RCV000053335] Chr16:64311275..68062011 [GRCh38]
Chr16:64345179..68095914 [GRCh37]
Chr16:62902680..66653415 [NCBI36]
Chr16:16q21-22.1
pathogenic
GRCh38/hg38 16q22.1(chr16:66694180-67865445)x1 copy number loss See cases [RCV000053336] Chr16:66694180..67865445 [GRCh38]
Chr16:66728083..67899348 [GRCh37]
Chr16:65285584..66456849 [NCBI36]
Chr16:16q22.1
pathogenic
GRCh38/hg38 16q21-22.1(chr16:66245888-67473023)x1 copy number loss See cases [RCV000134709] Chr16:66245888..67473023 [GRCh38]
Chr16:66279791..67506926 [GRCh37]
Chr16:64837292..66064427 [NCBI36]
Chr16:16q21-22.1
pathogenic
GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3 copy number gain See cases [RCV000135863] Chr16:62925929..84585795 [GRCh38]
Chr16:62959833..84619401 [GRCh37]
Chr16:61517334..83176902 [NCBI36]
Chr16:16q21-24.1
pathogenic
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 copy number gain See cases [RCV000139426] Chr16:65511483..90096995 [GRCh38]
Chr16:65545386..90163403 [GRCh37]
Chr16:64102887..88690904 [NCBI36]
Chr16:16q21-24.3
pathogenic
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 copy number gain See cases [RCV000142578] Chr16:64389378..90081985 [GRCh38]
Chr16:64423281..90148393 [GRCh37]
Chr16:62980782..88675894 [NCBI36]
Chr16:16q21-24.3
pathogenic|likely pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3
pathogenic
GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3 copy number gain See cases [RCV000143752] Chr16:49685521..68401712 [GRCh38]
Chr16:49719432..68435615 [GRCh37]
Chr16:48276933..66993116 [NCBI36]
Chr16:16q12.1-22.1
pathogenic
GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3 copy number gain See cases [RCV000143742] Chr16:65957829..83611443 [GRCh38]
Chr16:65991732..83645048 [GRCh37]
Chr16:64549233..82202549 [NCBI36]
Chr16:16q21-23.3
pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Ductal breast carcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3
uncertain significance
GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1 copy number loss Ductal breast carcinoma [RCV000207067] Chr16:55359026..70884455 [GRCh37]
Chr16:16q12.2-22.2
likely pathogenic|uncertain significance
Single allele complex Ductal breast carcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3
uncertain significance
NM_000196.4(HSD11B2):c.266G>A (p.Gly89Asp) single nucleotide variant Apparent mineralocorticoid excess [RCV000995564]|not specified [RCV000517382] Chr16:67435628 [GRCh38]
Chr16:67469531 [GRCh37]
Chr16:16q22.1
pathogenic|uncertain significance
NM_000196.4(HSD11B2):c.272A>C (p.Asp91Ala) single nucleotide variant Apparent mineralocorticoid excess [RCV000505578] Chr16:67435634 [GRCh38]
Chr16:67469537 [GRCh37]
Chr16:16q22.1
uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3
uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss PARP Inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 copy number gain See cases [RCV000512511] Chr16:57051473..89797669 [GRCh37]
Chr16:16q13-24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss PARP Inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3 copy number gain not provided [RCV000683820] Chr16:54416050..72453266 [GRCh37]
Chr16:16q12.2-22.2
pathogenic
NM_000196.4(HSD11B2):c.534G>A (p.Glu178=) single nucleotide variant not provided [RCV000711979] Chr16:67436012 [GRCh38]
Chr16:67469915 [GRCh37]
Chr16:16q22.1
benign
NM_000196.4(HSD11B2):c.468C>A (p.Thr156=) single nucleotide variant not provided [RCV000711978] Chr16:67435830 [GRCh38]
Chr16:67469733 [GRCh37]
Chr16:16q22.1
benign
NM_000196.4(HSD11B2):c.664+16del deletion not provided [RCV000711980] Chr16:67436150 [GRCh38]
Chr16:67470053 [GRCh37]
Chr16:16q22.1
benign
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
NM_000196.4(HSD11B2):c.220_222delinsGG (p.Arg74fs) indel Apparent mineralocorticoid excess [RCV000761441] Chr16:67431468..67431470 [GRCh38]
Chr16:67465371..67465373 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_000196.4(HSD11B2):c.956_964dup (p.Val322_Asp323insAlaProVal) duplication Apparent mineralocorticoid excess [RCV000761443] Chr16:67436740..67436741 [GRCh38]
Chr16:67470643..67470644 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_000196.4(HSD11B2):c.1164C>T (p.Asp388=) single nucleotide variant not provided [RCV000906106] Chr16:67436949 [GRCh38]
Chr16:67470852 [GRCh37]
Chr16:16q22.1
likely benign
NM_000196.4(HSD11B2):c.1121G>A (p.Arg374Gln) single nucleotide variant not provided [RCV000882891] Chr16:67436906 [GRCh38]
Chr16:67470809 [GRCh37]
Chr16:16q22.1
benign
GRCh37/hg19 16q22.1(chr16:67132790-68166320) copy number loss not provided [RCV000767617] Chr16:67132790..68166320 [GRCh37]
Chr16:16q22.1
pathogenic
NM_000196.4(HSD11B2):c.1072C>T (p.Leu358=) single nucleotide variant not provided [RCV000933061] Chr16:67436857 [GRCh38]
Chr16:67470760 [GRCh37]
Chr16:16q22.1
likely benign
NM_000196.4(HSD11B2):c.664+16dup duplication not provided [RCV000897277] Chr16:67436149..67436150 [GRCh38]
Chr16:67470052..67470053 [GRCh37]
Chr16:16q22.1
benign
NM_000196.4(HSD11B2):c.710C>T (p.Ala237Val) single nucleotide variant Apparent mineralocorticoid excess [RCV000985014] Chr16:67436294 [GRCh38]
Chr16:67470197 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_000196.4(HSD11B2):c.949G>A (p.Asp317Asn) single nucleotide variant not provided [RCV000992171] Chr16:67436734 [GRCh38]
Chr16:67470637 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_000196.4(HSD11B2):c.665-5C>T single nucleotide variant not provided [RCV000917027] Chr16:67436244 [GRCh38]
Chr16:67470147 [GRCh37]
Chr16:16q22.1
likely benign
NM_000196.4(HSD11B2):c.357C>T (p.Pro119=) single nucleotide variant not provided [RCV000927187] Chr16:67435719 [GRCh38]
Chr16:67469622 [GRCh37]
Chr16:16q22.1
likely benign
NM_000196.4(HSD11B2):c.681G>A (p.Pro227=) single nucleotide variant not provided [RCV000895920] Chr16:67436265 [GRCh38]
Chr16:67470168 [GRCh37]
Chr16:16q22.1
benign
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 copy number gain not provided [RCV001249359] Chr16:61524229..90155062 [GRCh37]
Chr16:16q21-24.3
not provided
GRCh37/hg19 16q21-22.1(chr16:65669673-70180183)x1 copy number loss not provided [RCV001006797] Chr16:65669673..70180183 [GRCh37]
Chr16:16q21-22.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5209 AgrOrtholog
COSMIC HSD11B2 COSMIC
Ensembl Genes ENSG00000176387 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000316786 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000473429 UniProtKB/TrEMBL
Ensembl Transcript ENST00000326152 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000566606 UniProtKB/TrEMBL
GTEx ENSG00000176387 GTEx
HGNC ID HGNC:5209 ENTREZGENE
Human Proteome Map HSD11B2 Human Proteome Map
InterPro NAD(P)-bd_dom_sf UniProtKB/Swiss-Prot
  Sc_DH/Rdtase_CS UniProtKB/Swiss-Prot
  SDR_fam UniProtKB/Swiss-Prot
KEGG Report hsa:3291 UniProtKB/Swiss-Prot
NCBI Gene 3291 ENTREZGENE
OMIM 218030 OMIM
  614232 OMIM
Pfam adh_short UniProtKB/Swiss-Prot
PharmGKB PA29477 PharmGKB
PRINTS GDHRDH UniProtKB/Swiss-Prot
PROSITE ADH_SHORT UniProtKB/Swiss-Prot
Superfamily-SCOP SSF51735 UniProtKB/Swiss-Prot
UniProt DHI2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  R4GN04_HUMAN UniProtKB/TrEMBL
UniProt Secondary A7LB28 UniProtKB/Swiss-Prot
  C5HTY7 UniProtKB/Swiss-Prot
  Q13194 UniProtKB/Swiss-Prot
  Q6P2G9 UniProtKB/Swiss-Prot
  Q8N439 UniProtKB/Swiss-Prot
  Q96QN8 UniProtKB/Swiss-Prot
  Q9UC50 UniProtKB/Swiss-Prot
  Q9UC51 UniProtKB/Swiss-Prot
  Q9UCW5 UniProtKB/Swiss-Prot
  Q9UCW6 UniProtKB/Swiss-Prot
  Q9UCW7 UniProtKB/Swiss-Prot
  Q9UCW8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-07 HSD11B2  hydroxysteroid 11-beta dehydrogenase 2    hydroxysteroid (11-beta) dehydrogenase 2  Symbol and/or name change 5135510 APPROVED