ENSG00000176387


Homo sapiens

Features
Gene ID: ENSG00000176387
  
Biological name :HSD11B2
  
Synonyms : HSD11B2 / hydroxysteroid 11-beta dehydrogenase 2 / P80365
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: 1
Band: q22.1
Gene start: 67430652
Gene end: 67437553
  
Corresponding Affymetrix probe sets: 204130_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000316786
Ensembl peptide - ENSP00000473429
NCBI entrez gene - 3291     See in Manteia.
OMIM - 614232
RefSeq - NM_000196
RefSeq Peptide - NP_000187
swissprot - P80365
swissprot - R4GN04
Ensembl - ENSG00000176387
  
Related genetic diseases (OMIM): 218030 - Apparent mineralocorticoid excess, 218030
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 hsd11b2ENSDARG00000001975Danio rerio
 HSD11B2ENSGALG00000028326Gallus gallus
 P51661ENSMUSG00000031891Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P37059 / HSD17B2 / hydroxysteroid 17-beta dehydrogenase 2ENSG0000008669636
RDH16 / O75452 / retinol dehydrogenase 16 (all-trans)ENSG0000013954727
O14756 / HSD17B6 / hydroxysteroid 17-beta dehydrogenase 6ENSG0000002542326
BDH1 / Q02338 / 3-hydroxybutyrate dehydrogenase 1ENSG0000016126725
RDH5 / Q92781 / retinol dehydrogenase 5ENSG0000013543725
DHRS9 / Q9BPW9 / dehydrogenase/reductase 9ENSG0000007373724
Q8NEX9 / SDR9C7 / short chain dehydrogenase/reductase family 9C member 7ENSG0000017042624
P14061 / HSD17B1 / hydroxysteroid 17-beta dehydrogenase 1ENSG0000010878618
RDH8 / retinol dehydrogenase 8 (all-trans)ENSG0000008051118
DHRS7B / Q6IAN0 / dehydrogenase/reductase 7BENSG0000010901617
DHRS7 / Q9Y394 / dehydrogenase/reductase 7ENSG0000010061216
KDSR / Q06136 / 3-ketodihydrosphingosine reductaseENSG0000011953714
A6NNS2 / DHRS7C / dehydrogenase/reductase 7CENSG0000018454413


Protein motifs (from Interpro)
Interpro ID Name
 IPR002347  Short-chain dehydrogenase/reductase SDR
 IPR020904  Short-chain dehydrogenase/reductase, conserved site
 IPR036291  NAD(P)-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001666 response to hypoxia IEA
 biological_processGO:0002017 regulation of blood volume by renal aldosterone IEA
 biological_processGO:0006704 glucocorticoid biosynthetic process TAS
 biological_processGO:0007565 female pregnancy IEA
 biological_processGO:0008211 glucocorticoid metabolic process IEA
 biological_processGO:0032094 response to food IEA
 biological_processGO:0032868 response to insulin IEA
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0048545 response to steroid hormone IEA
 biological_processGO:0051384 response to glucocorticoid IEA
 biological_processGO:0055114 oxidation-reduction process IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IEA
 molecular_functionGO:0003845 11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity IEA
 molecular_functionGO:0005496 steroid binding IEA
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0051287 NAD binding IEA


Pathways (from Reactome)
Pathway description
Glucocorticoid biosynthesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000822 Hypertension "High blood pressure." [HPO:curators]
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 HP:0001095 Hypertensive retinopathy 
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 HP:0001508 Failure to thrive 
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 HP:0001510 Growth retardation 
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 HP:0001518 Low birth weight 
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 HP:0002900 Hypokalemia 
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 HP:0003351 Decreased renin 
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 HP:0003828 Variable expressivity 
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 HP:0004319 Decreased aldosterone production 
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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 HP:0200114 Metabolic alkalosis 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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