U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 [ Homo sapiens (human) ]

    Gene ID: 3291, updated on 17-Sep-2024

    Summary

    Official Symbol
    HSD11B2provided by HGNC
    Official Full Name
    hydroxysteroid 11-beta dehydrogenase 2provided by HGNC
    Primary source
    HGNC:HGNC:5209
    See related
    Ensembl:ENSG00000176387 MIM:614232; AllianceGenome:HGNC:5209
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AME; AME1; HSD2; HSD11K; SDR9C3
    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-oxoreductase (cortisone to cortisol) activities. The type II isozyme, encoded by this gene, has only 11-beta-dehydrogenase activity. In aldosterone-selective epithelial tissues such as the kidney, the type II isozyme catalyzes the glucocorticoid cortisol to the inactive metabolite cortisone, thus preventing illicit activation of the mineralocorticoid receptor. In tissues that do not express the mineralocorticoid receptor, such as the placenta and testis, it protects cells from the growth-inhibiting and/or pro-apoptotic effects of cortisol, particularly during embryonic development. Mutations in this gene cause the syndrome of apparent mineralocorticoid excess and hypertension. [provided by RefSeq, Feb 2010]
    Expression
    Biased expression in kidney (RPKM 155.7), colon (RPKM 97.2) and 6 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See HSD11B2 in Genome Data Viewer
    Location:
    16q22.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (67429801..67437553)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (73225897..73232329)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (67465024..67471456)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene RNA, U1 small nuclear 123, pseudogene Neighboring gene tubulin polymerization promoting protein family member 3 Neighboring gene zinc finger DHHC-type containing 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:67439721-67440606 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:67440607-67441493 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:67441494-67442379 Neighboring gene uncharacterized LOC124903702 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:67450269-67450926 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:67454837-67455408 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:67458128-67458722 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67461918-67462452 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67462453-67462987 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7604 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7605 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67469389-67469890 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:67477413-67478036 Neighboring gene ATPase H+ transporting V0 subunit d1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67478661-67479284 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67481159-67481658 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67485489-67486172 Neighboring gene Sharpr-MPRA regulatory region 10086 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67495532-67496032 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67499338-67499838 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67499839-67500339 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10965 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10966 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7606 Neighboring gene ATP6V0D1 divergent transcript Neighboring gene agouti related neuropeptide

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Both HIV-1 Tat 47-59 and FITC-labeled Tat 47-59 peptides downregulate gene expression of hydroxysteroid (11-beta) dehydrogenase 2 (HSD11B2) in U-937 macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 11-beta-hydroxysteroid dehydrogenase (NAD+) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables 11-beta-hydroxysteroid dehydrogenase (NAD+) activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables NAD binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables steroid binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in cortisol metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in female pregnancy IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glucocorticoid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of blood volume by renal aldosterone IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to food IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to glucocorticoid IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to insulin IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    11-beta-hydroxysteroid dehydrogenase type 2
    Names
    -HSD11 type II
    11-DH2
    11-HSD type II
    11-beta-HSD type II
    11-beta-HSD2
    11-beta-hydroxysteroid dehydrogenase type II
    NAD-dependent 11-beta-hydroxysteroid dehydrogenase
    corticosteroid 11-beta-dehydrogenase isozyme 2
    short chain dehydrogenase/reductase family 9C member 3
    NP_000187.3
    XP_047290004.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016549.1 RefSeqGene

      Range
      4989..11421
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000196.4NP_000187.3  11-beta-hydroxysteroid dehydrogenase type 2

      See identical proteins and their annotated locations for NP_000187.3

      Status: REVIEWED

      Source sequence(s)
      AC009061, BC036780, BC064536
      Consensus CDS
      CCDS10837.1
      UniProtKB/Swiss-Prot
      A7LB28, C5HTY7, P80365, Q13194, Q6P2G9, Q8N439, Q96QN8, Q99887, Q9UC50, Q9UC51, Q9UCW5, Q9UCW6, Q9UCW7, Q9UCW8
      Related
      ENSP00000316786.5, ENST00000326152.6
      Conserved Domains (1) summary
      cd09805
      Location:83363
      type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-like, classical (c) SDRs

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      67429801..67437553
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047434048.1XP_047290004.1  11-beta-hydroxysteroid dehydrogenase type 2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      73225897..73232329
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)