HSD11B2 (hydroxysteroid 11-beta dehydrogenase 2)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 3291
Gene name Hydroxysteroid 11-beta dehydrogenase 2
Gene symbol HSD11B2
Synonyms (NCBI Gene)
AMEAME1HSD11KHSD2SDR9C3
Chromosome 16
Chromosome location 16q22.1
Summary 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.
14
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.
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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 Transcription factors information provided by TRRUST V2 database.
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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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
614232 5209 ENSG00000176387
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Apparent mineralocorticoid excess Pathogenic; Likely pathogenic rs121917780, rs28934591, rs121917781, rs28934592, rs397509434, rs28934594, rs387907117, rs794726684, rs1453036708, rs2040979235 RCV000012874
RCV000012875
RCV000012876
RCV000012877
RCV000012878
View all (5 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Apparent mineralocorticoid excess, mild Pathogenic rs121917782 RCV000012881
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (13)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTHMA — CTD, Disgenet
CTD, Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 1 — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (156)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
ACTH Syndrome, Ectopic Ectopic ACTH secretion syndrome BEFREE 15761540
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 11288760, 12574226, 23741059
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma LHGDN 12109593, 12574226
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenal Cortical Adenoma Adrenocortical adenoma BEFREE 11288760
★★★★★
★☆☆☆☆
Found in Text Mining only
Anorexia Nervosa Anorexia BEFREE 29309960
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 22001010, 24135662, 26593902, 30884491
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety disorder Pubtator 24135662, 34715840 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety disorder Pubtator 26593902 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 22001010, 24135662, 26593902, 30884491
★★★★★
★☆☆☆☆
Found in Text Mining only
Apparent mineralocorticoid excess Apparent Mineralocorticoid Excess UNIPROT_DG 10489390, 10523339, 11238516, 12788846, 17314322, 7593417, 7608290, 7670488, 9398712, 9661590, 9683587, 9851783
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)