Human Gene HSD17B2 (ENST00000199936.9_4) from GENCODE V47lift37
  Description: hydroxysteroid 17-beta dehydrogenase 2 (from RefSeq NM_002153.3)
Gencode Transcript: ENST00000199936.9_4
Gencode Gene: ENSG00000086696.11_11
Transcript (Including UTRs)
   Position: hg19 chr16:82,068,858-82,132,139 Size: 63,282 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg19 chr16:82,069,030-82,132,041 Size: 63,012 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:82,068,858-82,132,139)mRNA (may differ from genome)Protein (387 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DHB2_HUMAN
DESCRIPTION: RecName: Full=Estradiol 17-beta-dehydrogenase 2; EC=1.1.1.62; AltName: Full=17-beta-hydroxysteroid dehydrogenase type 2; Short=17-beta-HSD 2; AltName: Full=20 alpha-hydroxysteroid dehydrogenase; Short=20-alpha-HSD; AltName: Full=E2DH; AltName: Full=Microsomal 17-beta-hydroxysteroid dehydrogenase; AltName: Full=Testosterone 17-beta-dehydrogenase; EC=1.1.1.63;
FUNCTION: Capable of catalyzing the interconversion of testosterone and androstenedione, as well as estradiol and estrone. Also has 20-alpha-HSD activity. Uses NADH while EDH17B3 uses NADPH.
CATALYTIC ACTIVITY: Estradiol-17-beta + NAD(P)(+) = estrone + NAD(P)H.
CATALYTIC ACTIVITY: Testosterone + NAD(+) = androst-4-ene-3,17- dione + NADH.
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=0.21 uM for estradiol; KM=0.39 uM for testosterone; KM=0.31 uM for dihydrotestosterone; KM=0.71 uM for 20-alpha-dihydroprogesterone; KM=0.78 uM for estrone; KM=2.63 uM for androstenedione; Vmax=38 nmol/min/mg enzyme with estradiol as substrate; Vmax=45 nmol/min/mg enzyme with testosterone as substrate; Vmax=38 nmol/min/mg enzyme with dihydrotestosterone as substrate; Vmax=5.6 nmol/min/mg enzyme with 20-alpha-dihydroprogesterone as substrate; Vmax=6.6 nmol/min/mg enzyme with estrone as substrate; Vmax=11.5 nmol/min/mg enzyme with androstenedione as substrate;
SUBCELLULAR LOCATION: Membrane; Single-pass type II membrane protein (Potential).
SIMILARITY: Belongs to the short-chain dehydrogenases/reductases (SDR) family.
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/hsd17b2/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: HSD17B2
Diseases sorted by gene-association score: progesterone resistance (10), endometriosis of ovary (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 31.06 RPKM in Bladder
Total median expression: 115.22 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -51.70172-0.301 Picture PostScript Text
3' UTR -19.6098-0.200 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002198 - DH_sc/Rdtase_SDR
IPR002347 - Glc/ribitol_DH
IPR016040 - NAD(P)-bd_dom
IPR020904 - Sc_DH/Rdtase_CS

Pfam Domains:
PF00106 - short chain dehydrogenase
PF13561 - Enoyl-(Acyl carrier protein) reductase

SCOP Domains:
51735 - NAD(P)-binding Rossmann-fold domains

ModBase Predicted Comparative 3D Structure on P37059
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004303 estradiol 17-beta-dehydrogenase activity
GO:0016491 oxidoreductase activity
GO:0047006 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity
GO:0047035 testosterone dehydrogenase (NAD+) activity

Biological Process:
GO:0001701 in utero embryonic development
GO:0001890 placenta development
GO:0006629 lipid metabolic process
GO:0006694 steroid biosynthetic process
GO:0006703 estrogen biosynthetic process
GO:0032526 response to retinoic acid
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AK223001 - Homo sapiens mRNA for hydroxysteroid (17-beta) dehydrogenase 2 variant, clone: HSI06833.
AK313109 - Homo sapiens cDNA, FLJ93594, Homo sapiens hydroxysteroid (17-beta) dehydrogenase 2 (HSD17B2),mRNA.
JD465687 - Sequence 446711 from Patent EP1572962.
JD424585 - Sequence 405609 from Patent EP1572962.
JD273821 - Sequence 254845 from Patent EP1572962.
BC009581 - Homo sapiens hydroxysteroid (17-beta) dehydrogenase 2, mRNA (cDNA clone MGC:14627 IMAGE:4077164), complete cds.
BC059170 - Homo sapiens hydroxysteroid (17-beta) dehydrogenase 2, mRNA (cDNA clone MGC:14632 IMAGE:4079440), complete cds.
JD102523 - Sequence 83547 from Patent EP1572962.
L11708 - Human 17 beta hydroxysteroid dehydrogenase type 2 mRNA, complete cds.
JD061979 - Sequence 43003 from Patent EP1572962.
JD117372 - Sequence 98396 from Patent EP1572962.
JD293625 - Sequence 274649 from Patent EP1572962.
JD247627 - Sequence 228651 from Patent EP1572962.
JD392499 - Sequence 373523 from Patent EP1572962.
JD530523 - Sequence 511547 from Patent EP1572962.
JD229530 - Sequence 210554 from Patent EP1572962.
DQ896372 - Synthetic construct Homo sapiens clone IMAGE:100010832; FLH193738.01L; RZPDo839B0769D hydroxysteroid (17-beta) dehydrogenase 2 (HSD17B2) gene, encodes complete protein.
KJ891398 - Synthetic construct Homo sapiens clone ccsbBroadEn_00792 HSD17B2 gene, encodes complete protein.
KR710358 - Synthetic construct Homo sapiens clone CCSBHm_00011814 HSD17B2 (HSD17B2) mRNA, encodes complete protein.
DQ893100 - Synthetic construct clone IMAGE:100005730; FLH193742.01X; RZPDo839B0779D hydroxysteroid (17-beta) dehydrogenase 2 (HSD17B2) gene, encodes complete protein.
BX648557 - Homo sapiens mRNA; cDNA DKFZp779N2235 (from clone DKFZp779N2235).
JD434581 - Sequence 415605 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P37059 (Reactome details) participates in the following event(s):

R-HSA-8862137 HSD17B2 oxidises estradiol (E2) to estrone (E1)
R-HSA-193144 Estrogen biosynthesis
R-HSA-196071 Metabolism of steroid hormones
R-HSA-209943 Steroid hormones
R-HSA-8957322 Metabolism of steroids
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: B2R7T4, DHB2_HUMAN, EDH17B2, ENST00000199936.1, ENST00000199936.2, ENST00000199936.3, ENST00000199936.4, ENST00000199936.5, ENST00000199936.6, ENST00000199936.7, ENST00000199936.8, HSD17B2 , NM_002153, P37059, SDR9C2, uc317chq.1, uc317chq.2
UCSC ID: ENST00000199936.9_4
RefSeq Accession: NM_002153.3
Protein: P37059 (aka DHB2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.