HSD11B2 (hydroxysteroid 11-beta dehydrogenase 2)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3291
Gene name Gene Name - the full gene name approved by the HGNC.
Hydroxysteroid 11-beta dehydrogenase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HSD11B2
Synonyms (NCBI Gene) Gene synonyms aliases
AME, AME1, HSD11K, HSD2, SDR9C3
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q22.1
Summary Summary of gene provided in NCBI Entrez Gene.
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-oxored
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(14)
SNP ID Visualize variation Clinical significance Consequence
rs28934591 C>A,T Pathogenic Missense variant, coding sequence variant
rs28934592 G>A Pathogenic Missense variant, coding sequence variant
rs28934594 C>T Pathogenic Missense variant, coding sequence variant
rs121917780 C>T Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs121917781 C>A,T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(11)
miRTarBase ID miRNA Experiments Reference
MIRT1055297 hsa-miR-1587 CLIP-seq
MIRT1055298 hsa-miR-4437 CLIP-seq
MIRT1055299 hsa-miR-4459 CLIP-seq
MIRT1055300 hsa-miR-4674 CLIP-seq
MIRT1055301 hsa-miR-4755-3p CLIP-seq
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(9)
Transcription factor Regulation Reference
EGR1 Repression 15659537
NF1 Unknown 17551100
NFIC Unknown 17551100
NFKB1 Activation 15659537
NFKB1 Repression 15659537
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(24)
GO ID Ontology Definition Evidence Reference
GO:0001666 Process Response to hypoxia IEA
GO:0002017 Process Regulation of blood volume by renal aldosterone IEA
GO:0005496 Function Steroid binding IEA
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
614232 5209 ENSG00000176387
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P80365
Protein name 11-beta-hydroxysteroid dehydrogenase type 2 (11-DH2) (11-beta-HSD2) (EC 1.1.1.-) (11-beta-hydroxysteroid dehydrogenase type II) (11-HSD type II) (11-beta-HSD type II) (Corticosteroid 11-beta-dehydrogenase isozyme 2) (NAD-dependent 11-beta-hydroxysteroid d
Protein function Catalyzes the conversion of biologically active 11beta-hydroxyglucocorticoids (11beta-hydroxysteroid) such as cortisol, to inactive 11-ketoglucocorticoids (11-oxosteroid) such as cortisone, in the presence of NAD(+) (PubMed:10497248, PubMed:1278
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00106 adh_short 83 → 278 short chain dehydrogenase Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in kidney, placenta, pancreas, prostate, ovary, small intestine and colon, and in lower levels in the spleen and testis (PubMed:7859916). At midgestation, expressed at high levels in placenta and in fetal kidney and, at much
Sequence 
MERWPWPSGGAWLLVAARALLQLLRSDLRLGRPLLAALALLAALDWLCQRLLPPPAALAV
LAAAGWIALSRLARPQRLPVATRAVLITGCDSGFGKETAKKLDSMGFTVLATVLELNSPG
AIELRTCCSPRLRLLQMDLTKPGDISRVLEFTKAHTTSTGLWGLVNNAGHNEVVADAELS
PVATFRSCMEVNFFGALELTKGLLPLLRSSRGRIVTVGSPAGDMPYPCLGAYGTSKAAVA
LLMDTFSCELLPWGVKVSIIQPGCFKTESVRNVGQWEKRKQLLLANLPQELLQAYGKDYI
EHLHGQFLHSLRLAMSDLTPVVDAITDALLAARPRRRYYPGQGLGLMYFIHYYLPEGLRR
RFLQAFFISHCLPRALQPGQPGTTPPQDAAQDPNLSPGPSPAVAR
Sequence length 405
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Steroid hormone biosynthesis
Metabolic pathways
Aldosterone-regulated sodium reabsorption 		  Glucocorticoid biosynthesis
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Apparent Mineralocorticoid Excess apparent mineralocorticoid excess, Apparent mineralocorticoid excess, mild rs121917781, rs28934592, rs397509434, rs28934594, rs121917782, rs387907117, rs794726684, rs121917780, rs28934591 N/A
Show/Hide Text Mining Associations (60)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenoma Associate 36631756
Adrenal hyperplasia 2 Associate 10536001
Adrenal Insufficiency Associate 37339332
Anxiety Associate 24135662, 34715840
Anxiety Inhibit 26593902
Apparent mineralocorticoid excess Associate 10536001, 21042587, 25133511, 29229831, 33387577, 34497581, 37065732, 37369098, 9247735, 9683587
Arthritis Rheumatoid Associate 16804865
Atrial Fibrillation Associate 20063294
Biliary Fistula Associate 11696574
Breast Neoplasms Associate 18378698