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P80365

- DHI2_HUMAN

UniProt

P80365 - DHI2_HUMAN

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Protein

Corticosteroid 11-beta-dehydrogenase isozyme 2

Gene
HSD11B2, HSD11K
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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 activityi

An 11-beta-hydroxysteroid + NAD+ = an 11-oxosteroid + NADH.

Enzyme regulationi

Inhibited by glycyrrhetinic acid (derived from liquorice), carbenoloxone and 11-alpha-OH-progesterone By similarity.

Kineticsi

X.

  1. KM=26.1 nM for cortisol (1 Publication)2 Publications
  2. KM=785 nM for cortisol (1 Publication)
  3. KM=77 nM for cortisterone

Vmax=64.1 nmol/h/mg enzyme toward cortisterone

Vmax=66 nmol/h/mg enzyme toward cortisol

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei219 – 2191Substrate By similarity
Active sitei232 – 2321Proton acceptor By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi82 – 11130NAD By similarityAdd
BLAST

GO - Molecular functioni

  1. 11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity Source: Ensembl
  2. NAD binding Source: Ensembl
  3. steroid binding Source: Ensembl

GO - Biological processi

  1. female pregnancy Source: Ensembl
  2. glucocorticoid biosynthetic process Source: ProtInc
  3. regulation of blood volume by renal aldosterone Source: Ensembl
  4. response to drug Source: Ensembl
  5. response to food Source: Ensembl
  6. response to glucocorticoid Source: Ensembl
  7. response to hypoxia Source: Ensembl
  8. response to insulin Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Ligandi

NAD

Enzyme and pathway databases

BRENDAi1.1.1.146. 2681.

Names & Taxonomyi

Protein namesi
Recommended name:
Corticosteroid 11-beta-dehydrogenase isozyme 2 (EC:1.1.1.-)
Alternative name(s):
11-beta-hydroxysteroid dehydrogenase type 2
Short name:
11-DH2
Short name:
11-beta-HSD2
11-beta-hydroxysteroid dehydrogenase type II
Short name:
-HSD11 type II
NAD-dependent 11-beta-hydroxysteroid dehydrogenase
Short name:
11-beta-HSD
Gene namesi
Name:HSD11B2
Synonyms:HSD11K
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:5209. HSD11B2.

Subcellular locationi

Microsome. Endoplasmic reticulum 1 Publication

GO - Cellular componenti

  1. endoplasmic reticulum Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Microsome

Pathology & Biotechi

Involvement in diseasei

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.12 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti114 – 1152Missing in AME; reduces enzyme activity by at least 95%.
VAR_015634
Natural varianti179 – 1791L → R in AME; abolishes enzyme activity. 1 Publication
VAR_015635
Natural varianti180 – 1801S → F in AME; reduces enzyme activity. 1 Publication
VAR_015636
Natural varianti186 – 1861R → C in AME. 2 Publications
VAR_015637
Natural varianti208 – 2081R → C in AME; reduces enzyme activity by at least 95%. 3 Publications
VAR_006958
Natural varianti208 – 2081R → H in AME; abolishes enzyme activity. 2 Publications
VAR_015638
Natural varianti213 – 2131R → C in AME; reduces enzyme activity by ca. 90%. 3 Publications
VAR_006959
Natural varianti223 – 2231D → N in AME; reduces enzyme activity to about 6% of wild type. 1 Publication
VAR_066514
Natural varianti237 – 2371A → V in AME; reduces enzyme activity. 1 Publication
VAR_015640
Natural varianti244 – 2441D → N in AME; associated with R-250. 1 Publication
VAR_015641
Natural varianti250 – 2512LL → PS in AME; abolishes enzyme activity.
VAR_015643
Natural varianti250 – 2501L → R in AME; associated with N-244. 1 Publication
VAR_015642
Natural varianti279 – 2791R → C in AME; decreases enzyme activity by ca. 33%. 1 Publication
VAR_015644
Natural varianti328 – 3281A → V in AME; abolishes enzyme activity. 2 Publications
VAR_015645
Natural varianti337 – 3382RY → H in AME; abolishes enzyme activity.
VAR_015647
Natural varianti337 – 3371R → C in AME; decreased half-life from 21 to 4 hours compared to wild-type, probably due to degradation via the proteasomal pathway. 3 Publications
VAR_066515
Natural varianti338 – 3381Y → H in AME; abolishes enzyme activity; decreased half-life from 21 to 3 hours compared to wild-type, probably due to degradation via the proteasomal pathway. 1 Publication
VAR_015646

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi115 – 1151E → K or Q: Abolishes cofactor specificity. 1 Publication
Mutagenesisi335 – 3351R → A or Q: Reduced enzyme activity. 1 Publication
Mutagenesisi335 – 3351R → K: No effect on enzyme activity. 1 Publication
Mutagenesisi336 – 3361R → A or Q: Almost complete loss of enzyme activity. 1 Publication
Mutagenesisi336 – 3361R → K: Reduced enzyme activity. 1 Publication
Mutagenesisi337 – 3371R → A or Q: Almost complete loss of enzyme activity. 1 Publication
Mutagenesisi337 – 3371R → K: Reduced enzyme activity. 1 Publication
Mutagenesisi338 – 3381Y → F or A: Complete loss of enzyme activity. 1 Publication
Mutagenesisi339 – 3391Y → A, F or H: Reduced enzyme activity. 1 Publication

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi218030. phenotype.
Orphaneti320. Apparent mineralocorticoid excess.
PharmGKBiPA29477.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 405405Corticosteroid 11-beta-dehydrogenase isozyme 2PRO_0000054627Add
BLAST

Proteomic databases

MaxQBiP80365.
PaxDbiP80365.
PRIDEiP80365.

PTM databases

PhosphoSiteiP80365.

Expressioni

Tissue specificityi

Found in placenta, kidney, pancreas, prostate, ovary, small intestine and colon.

Gene expression databases

ArrayExpressiP80365.
BgeeiP80365.
CleanExiHS_HSD11B2.
GenevestigatoriP80365.

Organism-specific databases

HPAiCAB032443.

Interactioni

Subunit structurei

Interacts with ligand-free cytoplasmic NR3C2.1 Publication

Protein-protein interaction databases

BioGridi109524. 4 interactions.

Structurei

3D structure databases

ProteinModelPortaliP80365.
SMRiP80365. Positions 81-339.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni335 – 3395Essential for protein stability

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG1028.
HOVERGENiHBG005482.
InParanoidiP80365.
KOiK00071.
OMAiCFKTESV.
OrthoDBiEOG7FXZZX.
PhylomeDBiP80365.
TreeFamiTF325617.

Family and domain databases

Gene3Di3.40.50.720. 1 hit.
InterProiIPR002198. DH_sc/Rdtase_SDR.
IPR002347. Glc/ribitol_DH.
IPR016040. NAD(P)-bd_dom.
IPR020904. Sc_DH/Rdtase_CS.
[Graphical view]
PfamiPF00106. adh_short. 1 hit.
[Graphical view]
PRINTSiPR00081. GDHRDH.
PROSITEiPS00061. ADH_SHORT. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P80365-1 [UniParc]FASTAAdd to Basket

« Hide

MERWPWPSGG AWLLVAARAL LQLLRSDLRL GRPLLAALAL LAALDWLCQR    50
LLPPPAALAV LAAAGWIALS RLARPQRLPV ATRAVLITGC DSGFGKETAK 100
KLDSMGFTVL ATVLELNSPG AIELRTCCSP RLRLLQMDLT KPGDISRVLE 150
FTKAHTTSTG LWGLVNNAGH NEVVADAELS PVATFRSCME VNFFGALELT 200
KGLLPLLRSS RGRIVTVGSP AGDMPYPCLG AYGTSKAAVA LLMDTFSCEL 250
LPWGVKVSII QPGCFKTESV RNVGQWEKRK QLLLANLPQE LLQAYGKDYI 300
EHLHGQFLHS LRLAMSDLTP VVDAITDALL AARPRRRYYP GQGLGLMYFI 350
HYYLPEGLRR RFLQAFFISH CLPRALQPGQ PGTTPPQDAA QDPNLSPGPS 400
PAVAR 405
Length:405
Mass (Da):44,127
Last modified:April 30, 2003 - v2
Checksum:i4AB269E269982D24
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti114 – 1152Missing in AME; reduces enzyme activity by at least 95%.
VAR_015634
Natural varianti147 – 1471R → H.
Corresponds to variant rs13306425 [ dbSNP | Ensembl ].
VAR_052317
Natural varianti179 – 1791L → R in AME; abolishes enzyme activity. 1 Publication
VAR_015635
Natural varianti180 – 1801S → F in AME; reduces enzyme activity. 1 Publication
VAR_015636
Natural varianti186 – 1861R → C in AME. 2 Publications
VAR_015637
Natural varianti208 – 2081R → C in AME; reduces enzyme activity by at least 95%. 3 Publications
VAR_006958
Natural varianti208 – 2081R → H in AME; abolishes enzyme activity. 2 Publications
VAR_015638
Natural varianti213 – 2131R → C in AME; reduces enzyme activity by ca. 90%. 3 Publications
VAR_006959
Natural varianti223 – 2231D → N in AME; reduces enzyme activity to about 6% of wild type. 1 Publication
VAR_066514
Natural varianti227 – 2271P → L in hypertension; decreases affinity for cortisol. 1 Publication
VAR_015639
Natural varianti237 – 2371A → V in AME; reduces enzyme activity. 1 Publication
VAR_015640
Natural varianti244 – 2441D → N in AME; associated with R-250. 1 Publication
VAR_015641
Natural varianti250 – 2512LL → PS in AME; abolishes enzyme activity.
VAR_015643
Natural varianti250 – 2501L → R in AME; associated with N-244. 1 Publication
VAR_015642
Natural varianti279 – 2791R → C in AME; decreases enzyme activity by ca. 33%. 1 Publication
VAR_015644
Natural varianti328 – 3281A → V in AME; abolishes enzyme activity. 2 Publications
VAR_015645
Natural varianti337 – 3382RY → H in AME; abolishes enzyme activity.
VAR_015647
Natural varianti337 – 3371R → C in AME; decreased half-life from 21 to 4 hours compared to wild-type, probably due to degradation via the proteasomal pathway. 3 Publications
VAR_066515
Natural varianti338 – 3381Y → H in AME; abolishes enzyme activity; decreased half-life from 21 to 3 hours compared to wild-type, probably due to degradation via the proteasomal pathway. 1 Publication
VAR_015646

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti148 – 1481V → F in AAB48544. 1 Publication
Sequence conflicti148 – 1481V → L in AAA91969. 1 Publication
Sequence conflicti350 – 3501I → T in AAH64536. 1 Publication
Sequence conflicti392 – 3921D → G in AAH36780. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U14631 mRNA. Translation: AAA91969.1.
U27317 Genomic DNA. Translation: AAB48544.1.
U26726 mRNA. Translation: AAC50356.1.
EF694683 Genomic DNA. Translation: ABS29267.1.
FJ515828 Genomic DNA. Translation: ACS13714.1.
CH471092 Genomic DNA. Translation: EAW83134.1.
BC036780 mRNA. Translation: AAH36780.1.
BC064536 mRNA. Translation: AAH64536.1.
AY046280 Genomic DNA. Translation: AAK91586.1.
CCDSiCCDS10837.1.
PIRiS62789.
RefSeqiNP_000187.3. NM_000196.3.
UniGeneiHs.1376.

Genome annotation databases

EnsembliENST00000326152; ENSP00000316786; ENSG00000176387.
GeneIDi3291.
KEGGihsa:3291.
UCSCiuc002etd.3. human.

Polymorphism databases

DMDMi30316367.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U14631 mRNA. Translation: AAA91969.1 .
U27317 Genomic DNA. Translation: AAB48544.1 .
U26726 mRNA. Translation: AAC50356.1 .
EF694683 Genomic DNA. Translation: ABS29267.1 .
FJ515828 Genomic DNA. Translation: ACS13714.1 .
CH471092 Genomic DNA. Translation: EAW83134.1 .
BC036780 mRNA. Translation: AAH36780.1 .
BC064536 mRNA. Translation: AAH64536.1 .
AY046280 Genomic DNA. Translation: AAK91586.1 .
CCDSi CCDS10837.1.
PIRi S62789.
RefSeqi NP_000187.3. NM_000196.3.
UniGenei Hs.1376.

3D structure databases

ProteinModelPortali P80365.
SMRi P80365. Positions 81-339.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 109524. 4 interactions.

Chemistry

BindingDBi P80365.
ChEMBLi CHEMBL3746.
DrugBanki DB00157. NADH.

PTM databases

PhosphoSitei P80365.

Polymorphism databases

DMDMi 30316367.

Proteomic databases

MaxQBi P80365.
PaxDbi P80365.
PRIDEi P80365.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000326152 ; ENSP00000316786 ; ENSG00000176387 .
GeneIDi 3291.
KEGGi hsa:3291.
UCSCi uc002etd.3. human.

Organism-specific databases

CTDi 3291.
GeneCardsi GC16P067465.
HGNCi HGNC:5209. HSD11B2.
HPAi CAB032443.
MIMi 218030. phenotype.
614232. gene.
neXtProti NX_P80365.
Orphaneti 320. Apparent mineralocorticoid excess.
PharmGKBi PA29477.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1028.
HOVERGENi HBG005482.
InParanoidi P80365.
KOi K00071.
OMAi CFKTESV.
OrthoDBi EOG7FXZZX.
PhylomeDBi P80365.
TreeFami TF325617.

Enzyme and pathway databases

BRENDAi 1.1.1.146. 2681.

Miscellaneous databases

ChiTaRSi HSD11B2. human.
GeneWikii Corticosteroid_11-beta-dehydrogenase_isozyme_2.
GenomeRNAii 3291.
NextBioi 13055.
PROi P80365.
SOURCEi Search...

Gene expression databases

ArrayExpressi P80365.
Bgeei P80365.
CleanExi HS_HSD11B2.
Genevestigatori P80365.

Family and domain databases

Gene3Di 3.40.50.720. 1 hit.
InterProi IPR002198. DH_sc/Rdtase_SDR.
IPR002347. Glc/ribitol_DH.
IPR016040. NAD(P)-bd_dom.
IPR020904. Sc_DH/Rdtase_CS.
[Graphical view ]
Pfami PF00106. adh_short. 1 hit.
[Graphical view ]
PRINTSi PR00081. GDHRDH.
PROSITEi PS00061. ADH_SHORT. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and tissue distribution of the human 11 beta-hydroxysteroid dehydrogenase type 2 enzyme."
    Albiston A.L., Obeyesekere V.R., Smith R.E., Krozowski Z.S.
    Mol. Cell. Endocrinol. 105:R11-R17(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Kidney.
  2. "Gene structure and chromosomal localization of the human HSD11K gene encoding the kidney (type 2) isozyme of 11 beta-hydroxysteroid dehydrogenase."
    Agarwal A.K., Rogerson F.M., Mune T., White P.C.
    Genomics 29:195-199(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    Tissue: Kidney.
  3. "Cloning and production of antisera to human placental 11 beta-hydroxysteroid dehydrogenase type 2."
    Brown R.W., Chapman K.E., Kotelevtsev Y., Yau J.L., Lindsay R.S., Brett L., Leckie C., Murad P., Lyons V., Mullins J.J., Edwards C.R.W., Seckl J.R.
    Biochem. J. 313:1007-1017(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Placenta.
  4. SeattleSNPs variation discovery resource
    Submitted (JUN-2007) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  5. NHLBI resequencing and genotyping service (RS&G)
    Submitted (DEC-2008) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Ovary.
  8. "Purification of 11 beta-hydroxysteroid dehydrogenase type 2 from human placenta utilizing a novel affinity labelling technique."
    Brown R.W., Chapman K.E., Murad P., Edwards C.R., Seckl J.R.
    Biochem. J. 313:997-1005(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 19-24; 77-84; 102-112; 134-154; 191-198; 214-227; 229-235; 256-266; 272-278 AND 375-401.
    Tissue: Placenta.
  9. "Human hydroxysteroid dehydrogenase type 2 HSD11B2."
    Amin H.K., Hoeppner W.
    Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 90-221.
  10. "Several homozygous mutations in the gene for 11 beta-hydroxysteroid dehydrogenase type 2 in patients with apparent mineralocorticoid excess."
    Wilson R.C., Harbison M.D., Krozowski Z.S., Funder J.W., Shackleton C.H.L., Hanauske-Abel H.M., Wei J.-Q., Hertecant J., Moran A., Neiberger R.E., Balfe J.W., Fattah A., Daneman D., Licholai T., New M.I.
    J. Clin. Endocrinol. Metab. 80:3145-3150(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 182-211; 235-264 AND 325-354, VARIANTS AME CYS-186; CYS-208; 250-PRO-SER-251 AND 337-ARG-TYR-338 DELINS HIS.
  11. "Mineralocorticoid activity of liquorice: 11-beta-hydroxysteroid dehydrogenase deficiency comes of age."
    Stewart P.M., Wallace A.M., Valentino R., Burt D., Shackleton C.H.L., Edwards C.R.W.
    Lancet 2:821-824(1987) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION.
  12. "The intracellular localization of the mineralocorticoid receptor is regulated by 11beta-hydroxysteroid dehydrogenase type 2."
    Odermatt A., Arnold P., Frey F.J.
    J. Biol. Chem. 276:28484-28492(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH NR3C2.
  13. Cited for: VARIANT AME CYS-337.
  14. "Human hypertension caused by mutations in the kidney isozyme of 11 beta-hydroxysteroid dehydrogenase."
    Mune T., Rogerson F.M., Nikkilae H., Agarwal A.K., White P.C.
    Nat. Genet. 10:394-399(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANTS AME CYS-208; CYS-213; 250-PRO-SER-251 AND 337-ARG-TYR-338 DELINS HIS.
  15. "A new compound heterozygous mutation in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess."
    Kitanaka S., Katsumata N., Tanae A., Hibi I., Takeyama K., Fuse H., Kato S., Tanaka T.
    J. Clin. Endocrinol. Metab. 82:4054-4058(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANTS AME HIS-208 AND 337-ARG-TYR-338 DELINS HIS.
  16. "Molecular basis for hypertension in the 'type II variant' of apparent mineralocorticoid excess."
    Li A., Tedde R., Krozowski Z.S., Pala A., Li K.X.Z., Shackleton C.H.L., Mantero F., Palermo M., Stewart P.M.
    Am. J. Hum. Genet. 63:370-379(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANT AME CYS-279.
  17. Cited for: VARIANTS AME CYS-186; CYS-208; ASN-244; ARG-250; 250-PRO-SER-251; CYS-337 AND 337-ARG-TYR-338 DELINS HIS.
  18. "The codon 213 of the 11beta-hydroxysteroid dehydrogenase type 2 gene is a hot spot for mutations in apparent mineralocorticoid excess."
    Rogoff D., Smolenicka Z., Bergada I., Vallejo G., Barontini M., Heinrich J.J., Ferrari P.
    J. Clin. Endocrinol. Metab. 83:4391-4393(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANT AME CYS-213.
  19. Cited for: CHARACTERIZATION OF VARIANT HYPERTENSION LEU-227.
  20. "Genetic, biochemical, and clinical studies of patients with A328V or R213C mutations in 11betaHSD2 causing apparent mineralocorticoid excess."
    Morineau G., Marc J.-M., Boudi A., Galons H., Gourmelen M., Corvol P., Pascoe L., Fiet J.
    Hypertension 34:435-441(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANTS AME CYS-213 AND VAL-328.
  21. "Mutants of 11beta-hydroxysteroid dehydrogenase (11-HSD2) with partial activity: improved correlations between genotype and biochemical phenotype in apparent mineralocorticoid excess."
    Nunez B.S., Rogerson F.M., Mune T., Igarashi Y., Nakagawa Y., Phillipov G., Moudgil A., Travis L.B., Palermo M., Shackleton C.H.L., White P.C.
    Hypertension 34:638-642(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANTS AME ARG-179; PHE-180; HIS-208; VAL-237 AND VAL-328.
  22. "A mutation in the cofactor-binding domain of 11beta-hydroxysteroid dehydrogenase type 2 associated with mineralocorticoid hypertension."
    Odermatt A., Dick B., Arnold P., Zaehner T., Plueschke V., Deregibus M.N., Repetto H., Frey B.M., Frey F.J., Ferrari P.
    J. Clin. Endocrinol. Metab. 86:1247-1252(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANT AME 114-LEU-GLU-115 DEL, MUTAGENESIS OF GLU-115.
  23. "Two homozygous mutations in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess."
    Carvajal C.A., Gonzalez A.A., Romero D.G., Gonzalez A., Mosso L.M., Lagos E.T., Hevia Mdel P., Rosati M.P., Perez-Acle T.O., Gomez-Sanchez C.E., Montero J.A., Fardella C.E.
    J. Clin. Endocrinol. Metab. 88:2501-2507(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT AME ASN-223, BIOPHYSICOCHEMICAL PROPERTIES.
  24. "Impaired protein stability of 11beta-hydroxysteroid dehydrogenase type 2: a novel mechanism of apparent mineralocorticoid excess."
    Atanasov A.G., Ignatova I.D., Nashev L.G., Dick B., Ferrari P., Frey F.J., Odermatt A.
    J. Am. Soc. Nephrol. 18:1262-1270(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AME CYS-337 AND HIS-338, SUBCELLULAR LOCATION, BIOPHYSICOCHEMICAL PROPERTIES, MUTAGENESIS OF ARG-335; ARG-336; ARG-337; TYR-338 AND TYR-339.

Entry informationi

Entry nameiDHI2_HUMAN
AccessioniPrimary (citable) accession number: P80365
Secondary accession number(s): A7LB28
, C5HTY7, Q13194, Q6P2G9, Q8N439, Q96QN8, Q9UC50, Q9UC51, Q9UCW5, Q9UCW6, Q9UCW7, Q9UCW8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: April 30, 2003
Last modified: September 3, 2014
This is version 138 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Miscellaneous

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

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi