Aliases for HSD17B2 Gene

Aliases for HSD17B2 Gene

  • Hydroxysteroid 17-Beta Dehydrogenase 2 2 3 5
  • SDR9C2 2 3 4
  • Short Chain Dehydrogenase/Reductase Family 9C Member 2 3 4
  • Microsomal 17-Beta-Hydroxysteroid Dehydrogenase 3 4
  • 17-Beta-Hydroxysteroid Dehydrogenase Type 2 3 4
  • 20 Alpha-Hydroxysteroid Dehydrogenase 3 4
  • Testosterone 17-Beta-Dehydrogenase 3 4
  • Estradiol 17-Beta-Dehydrogenase 2 3 4
  • 17-Beta-HSD 2 3 4
  • 20-Alpha-HSD 3 4
  • EDH17B2 3 4
  • HSD17 2 3
  • E2DH 3 4
  • Short Chain Dehydrogenase/Reductase Family 9C, Member 2 2
  • Hydroxysteroid (17-Beta) Dehydrogenase 2 2
  • EC 1.1.1.239 4
  • EC 1.1.1.62 4
  • HSD17B2 5

External Ids for HSD17B2 Gene

Previous GeneCards Identifiers for HSD17B2 Gene

  • GC16P072910
  • GC16P083029
  • GC16P081807
  • GC16P081848
  • GC16P080626
  • GC16P067822

Summaries for HSD17B2 Gene

GeneCards Summary for HSD17B2 Gene

HSD17B2 (Hydroxysteroid 17-Beta Dehydrogenase 2) is a Protein Coding gene. Diseases associated with HSD17B2 include Progesterone Resistance and Endometriosis Of Ovary. Among its related pathways are Androstenedione and testosterone biosynthesis and metabolism p.1 and Steroid hormone biosynthesis. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and testosterone dehydrogenase (NAD+) activity. An important paralog of this gene is HSD11B2.

UniProtKB/Swiss-Prot Summary for HSD17B2 Gene

  • 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.

Gene Wiki entry for HSD17B2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HSD17B2 Gene

Genomics for HSD17B2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HSD17B2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J082033 Promoter/Enhancer 1.7 EPDnew FANTOM5 Ensembl ENCODE 254.3 +0.8 849 5.1 MXD4 HOMEZ FOXA2 ZNF511 SMAD4 SAP130 RXRA MIER3 ETV4 RARA HSD17B2 SDR42E1 LOC105371363 ENSG00000261235 MPHOSPH6
GH16J082034 Enhancer 0.2 ENCODE 250.7 -1.8 -1813 0.2 HSD17B2 HSALNG0113026 SDR42E1
GH16J082055 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.2 +21.2 21184 1.6 CEBPA HOMEZ KDM6A FOXA2 SAP130 RXRA MIER3 ZSCAN9 ETV4 RARA HSD17B2 SDR42E1 LOC105371363 ENSG00000261235 MPHOSPH6
GH16J082069 Enhancer 0.9 Ensembl ENCODE dbSUPER 11.1 +36.3 36260 2.9 MAFF RXRA ZNF316 NFE2 NFE2L2 MAFK JUND HNF4A MAFG FOS HSD17B2 SDR42E1 LOC105371363 piR-46381-032 ENSG00000261235 MPHOSPH6
GH16J082066 Enhancer 0.8 Ensembl ENCODE 11.1 +32.7 32660 1.8 SMAD4 SAP130 RXRA RARA TEAD3 DMAP1 BCL6 CREM FOXP1 HNF4A HSD17B2 SDR42E1 LOC105371363 piR-46381-032 ENSG00000261235 MPHOSPH6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HSD17B2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HSD17B2

Top Transcription factor binding sites by QIAGEN in the HSD17B2 gene promoter:
  • HNF-3beta
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1a
  • MyoD
  • PPAR-gamma1
  • PPAR-gamma2
  • SRY
  • STAT5B

Genomic Locations for HSD17B2 Gene

Latest Assembly
chr16:82,035,004-82,098,534
(GRCh38/hg38)
Size:
63,531 bases
Orientation:
Plus strand

Previous Assembly
chr16:82,068,858-82,132,139
(GRCh37/hg19 by Entrez Gene)
Size:
63,282 bases
Orientation:
Plus strand

chr16:82,068,609-82,132,139
(GRCh37/hg19 by Ensembl)
Size:
63,531 bases
Orientation:
Plus strand

Genomic View for HSD17B2 Gene

Genes around HSD17B2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HSD17B2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HSD17B2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSD17B2 Gene

Proteins for HSD17B2 Gene

  • Protein details for HSD17B2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P37059-DHB2_HUMAN
    Recommended name:
    17-beta-hydroxysteroid dehydrogenase type 2
    Protein Accession:
    P37059
    Secondary Accessions:
    • B2R7T4

    Protein attributes for HSD17B2 Gene

    Size:
    387 amino acids
    Molecular mass:
    42785 Da
    Quaternary structure:
    No Data Available

neXtProt entry for HSD17B2 Gene

Post-translational modifications for HSD17B2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HSD17B2 Gene

Antibodies for research

  • Abcam antibodies for HSD17B2

No data available for DME Specific Peptides for HSD17B2 Gene

Domains & Families for HSD17B2 Gene

Gene Families for HSD17B2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for HSD17B2 Gene

InterPro:
Blocks:
  • Short-chain dehydrogenase/reductase SDR
ProtoNet:

Suggested Antigen Peptide Sequences for HSD17B2 Gene

GenScript: Design optimal peptide antigens:
  • Testosterone 17-beta-dehydrogenase (DHB2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P37059

UniProtKB/Swiss-Prot:

DHB2_HUMAN :
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Family:
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
genes like me logo Genes that share domains with HSD17B2: view

Function for HSD17B2 Gene

Molecular function for HSD17B2 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=17beta-estradiol + NAD(+) = estrone + H(+) + NADH; Xref=Rhea:RHEA:24612, ChEBI:CHEBI:15378, ChEBI:CHEBI:16469, ChEBI:CHEBI:17263, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.62; Evidence={ECO:0000269|PubMed:8099587};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=17beta-estradiol + NADP(+) = estrone + H(+) + NADPH; Xref=Rhea:RHEA:24616, ChEBI:CHEBI:15378, ChEBI:CHEBI:16469, ChEBI:CHEBI:17263, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.1.1.62;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=NAD(+) + testosterone = androst-4-ene-3,17-dione + H(+) + NADH; Xref=Rhea:RHEA:14929, ChEBI:CHEBI:15378, ChEBI:CHEBI:16422, ChEBI:CHEBI:17347, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.239; Evidence={ECO:0000269|PubMed:8099587};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=17beta-hydroxy-5alpha-androstan-3-one + NAD(+) = 5alpha-androstan-3,17-dione + H(+) + NADH; Xref=Rhea:RHEA:41992, ChEBI:CHEBI:15378, ChEBI:CHEBI:15994, ChEBI:CHEBI:16330, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; Evidence={ECO:0000269|PubMed:8099587};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(20S)-hydroxypregn-4-en-3-one + NAD(+) = H(+) + NADH + progesterone; Xref=Rhea:RHEA:42108, ChEBI:CHEBI:15378, ChEBI:CHEBI:17026, ChEBI:CHEBI:28453, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; Evidence={ECO:0000269|PubMed:8099587};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.21 uM for estradiol {ECO:0000269|PubMed:8099587}; KM=0.39 uM for testosterone {ECO:0000269|PubMed:8099587}; KM=0.31 uM for dihydrotestosterone {ECO:0000269|PubMed:8099587}; KM=0.71 uM for 20-alpha-dihydroprogesterone {ECO:0000269|PubMed:8099587}; KM=0.78 uM for estrone {ECO:0000269|PubMed:8099587}; KM=2.63 uM for androstenedione {ECO:0000269|PubMed:8099587}; Vmax=38 nmol/min/mg enzyme with estradiol as substrate {ECO:0000269|PubMed:8099587}; Vmax=45 nmol/min/mg enzyme with testosterone as substrate {ECO:0000269|PubMed:8099587}; Vmax=38 nmol/min/mg enzyme with dihydrotestosterone as substrate {ECO:0000269|PubMed:8099587}; Vmax=5.6 nmol/min/mg enzyme with 20-alpha-dihydroprogesterone as substrate {ECO:0000269|PubMed:8099587}; Vmax=6.6 nmol/min/mg enzyme with estrone as substrate {ECO:0000269|PubMed:8099587}; Vmax=11.5 nmol/min/mg enzyme with androstenedione as substrate {ECO:0000269|PubMed:8099587}; pH dependence: Optimum pH is 9 with testosterone and estradiol as substrates and 5.5 with androstenedione and estrone as substrates. {ECO:0000269|PubMed:8099587};
GENATLAS Biochemistry:
17-beta-hydroxysteroid dehydrogenase,type II,microsomal,NAD dependent,converting estrogens and androgens,playing an essential role in the formation of active intracellular sex steroids

Enzyme Numbers (IUBMB) for HSD17B2 Gene

Phenotypes From GWAS Catalog for HSD17B2 Gene

Gene Ontology (GO) - Molecular Function for HSD17B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004303 estradiol 17-beta-dehydrogenase activity TAS --
GO:0016491 oxidoreductase activity IEA --
GO:0047006 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity TAS 17538076
GO:0047035 testosterone dehydrogenase (NAD+) activity IEA,IDA 8099587
genes like me logo Genes that share ontologies with HSD17B2: view
genes like me logo Genes that share phenotypes with HSD17B2: view

Animal Models for HSD17B2 Gene

MGI Knock Outs for HSD17B2:

Animal Models for research

  • Taconic Biosciences Mouse Models for HSD17B2

miRNA for HSD17B2 Gene

miRTarBase miRNAs that target HSD17B2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HSD17B2

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HSD17B2 Gene

Localization for HSD17B2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HSD17B2 Gene

Membrane. Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HSD17B2 gene
Compartment Confidence
plasma membrane 2
extracellular 2
peroxisome 2
nucleus 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HSD17B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with HSD17B2: view

Pathways & Interactions for HSD17B2 Gene

PathCards logo

SuperPathways for HSD17B2 Gene

genes like me logo Genes that share pathways with HSD17B2: view

Pathways by source for HSD17B2 Gene

1 BioSystems pathway for HSD17B2 Gene
3 GeneGo (Thomson Reuters) pathways for HSD17B2 Gene
  • Androstenedione and testosterone biosynthesis and metabolism p.1
  • Estrogen biosynthesis
  • Estrone metabolism

Gene Ontology (GO) - Biological Process for HSD17B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0001890 placenta development IEA --
GO:0006629 lipid metabolic process IEA --
GO:0006694 steroid biosynthetic process IEA --
GO:0006703 estrogen biosynthetic process TAS --
genes like me logo Genes that share ontologies with HSD17B2: view

No data available for SIGNOR curated interactions for HSD17B2 Gene

Drugs & Compounds for HSD17B2 Gene

(19) Drugs for HSD17B2 Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Estradiol Approved, Investigational, Vet_approved Pharma Sex hormone 1147
Estrone Approved Pharma Estrogenic hormone 24
Testosterone Approved, Investigational Pharma Endogenous androgen receptor agonist 702
Estradiol acetate Approved, Investigational, Vet_approved Pharma Target 0

(9) Additional Compounds for HSD17B2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
11beta,17beta-Dihydroxy-4-androsten-3-one
  • (11beta,17beta)-11,17-Dihydroxyandrost-4-en-3-one
  • 11-Hydroxytestosterone
  • 11beta,17beta-Dihydroxyandrost-4-ene-3-one
  • 11beta-Hydroxytestosterone
  • (11b,17b)-11,17-Dihydroxyandrost-4-en-3-one
16a-Hydroxyestrone
  • 16 alpha OHE
  • 3,16alpha-Dihydroxy-1,3,5(10)-estratrien-17-one
  • 3,16alpha-Dihydroxyestra-1,3,5(10)-trien-17-one
  • Estra-1,3,5(10)-triene-3,16alpha-diol-17-one
  • 16 a OHE
566-76-7
16b-Hydroxyestrone
  • (16beta)-3,16-Dihydroxyestra-1,3,5(10)-trien-17-one
  • 16-Hydroxyestrone
  • 3,16-Dihydroxyestra-1,3,5(10)-trien-17-one
  • 3,16beta-Dihydroxy-estra-1,3,5(10)-trien-17-one
  • (16b)-3,16-Dihydroxyestra-1,3,5(10)-trien-17-one
966-06-3
Hydrogen Ion
  • H+
  • H(+)
  • Hydron
  • Hydrogen cation
  • Proton

(1) ApexBio Compounds for HSD17B2 Gene

Compound Action Cas Number
TC HSD 21 330203-01-5
genes like me logo Genes that share compounds with HSD17B2: view

Drug products for research

Transcripts for HSD17B2 Gene

mRNA/cDNA for HSD17B2 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HSD17B2

Alternative Splicing Database (ASD) splice patterns (SP) for HSD17B2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9
SP1: - - -
SP2:
SP3: - -
SP4: - -
SP5:

Relevant External Links for HSD17B2 Gene

GeneLoc Exon Structure for
HSD17B2

Expression for HSD17B2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HSD17B2 Gene

mRNA differential expression in normal tissues according to GTEx for HSD17B2 Gene

This gene is overexpressed in Liver (x20.6), Colon - Transverse (x7.7), Bladder (x6.8), and Small Intestine - Terminal Ileum (x5.4).

Protein differential expression in normal tissues from HIPED for HSD17B2 Gene

This gene is overexpressed in Placenta (20.7), Fetal Liver (14.8), Nasal epithelium (12.6), and Liver (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HSD17B2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HSD17B2

SOURCE GeneReport for Unigene cluster for HSD17B2 Gene:

Hs.162795

mRNA Expression by UniProt/SwissProt for HSD17B2 Gene:

P37059-DHB2_HUMAN
Tissue specificity: Expressed in placenta.

Evidence on tissue expression from TISSUES for HSD17B2 Gene

  • Liver(4.6)
  • Intestine(4.6)
  • Bone marrow(4)
  • Adrenal gland(2.3)
genes like me logo Genes that share expression patterns with HSD17B2: view

Primer products for research

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for HSD17B2 Gene

Orthologs for HSD17B2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for HSD17B2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia HSD17B2 30 31
  • 99.14 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HSD17B2 30 31
  • 75.91 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HSD17B2 30 31
  • 75.39 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Hsd17b2 30
  • 72.43 (n)
Mouse
(Mus musculus)
Mammalia Hsd17b2 30 17 31
  • 71.72 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia HSD17B2 31
  • 54 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia HSD17B2 31
  • 52 (a)
OneToOne
Chicken
(Gallus gallus)
Aves HSD17B2 30 31
  • 61.33 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia HSD17B2 31
  • 49 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia hsd17b2 30
  • 55.19 (n)
Zebrafish
(Danio rerio)
Actinopterygii hsd17b2 30 31
  • 54.69 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta e 31
  • 7 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea dhs-20 31
  • 26 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LYS2 31
  • 5 (a)
OneToMany
AYR1 33
Species where no ortholog for HSD17B2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for HSD17B2 Gene

ENSEMBL:
Gene Tree for HSD17B2 (if available)
TreeFam:
Gene Tree for HSD17B2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HSD17B2: view image

Paralogs for HSD17B2 Gene

(8) SIMAP similar genes for HSD17B2 Gene using alignment to 6 proteins:

  • DHB2_HUMAN
  • H3BNN1_HUMAN
  • H3BQY3_HUMAN
  • H3BRZ6_HUMAN
  • H3BS44_HUMAN
  • H3BV42_HUMAN
genes like me logo Genes that share paralogs with HSD17B2: view

Variants for HSD17B2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HSD17B2 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs117437228 Benign: not provided 82,090,913(+) A/G
NM_002153.3(HSD17B2):c.676A>G (p.Met226Val)
MISSENSE
rs142879258 Likely Benign: not provided 82,098,264(+) C/T
NM_002153.3(HSD17B2):c.992C>T (p.Ala331Val)
MISSENSE
rs143607337 Benign: not provided 82,070,997(+) G/A
NM_002153.3(HSD17B2):c.534G>A (p.Glu178=)
SYNONYMOUS
rs34731990 Benign: not provided 82,068,294(+) G/A
NM_002153.3(HSD17B2):c.390G>A (p.Pro130=)
SYNONYMOUS
rs75102012 Benign: not provided 82,090,956(+) C/G
NM_002153.3(HSD17B2):c.719C>G (p.Thr240Ser)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for HSD17B2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for HSD17B2 Gene

Variant ID Type Subtype PubMed ID
esv2029415 CNV deletion 18987734
esv2671131 CNV deletion 23128226
esv3553761 CNV deletion 23714750
esv3582389 CNV loss 25503493
esv3639349 CNV gain 21293372
nsv1061709 CNV loss 25217958
nsv472778 CNV novel sequence insertion 20440878

Variation tolerance for HSD17B2 Gene

Residual Variation Intolerance Score: 28.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.81; 47.64% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HSD17B2 Gene

Human Gene Mutation Database (HGMD)
HSD17B2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HSD17B2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSD17B2 Gene

Disorders for HSD17B2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for HSD17B2 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
progesterone resistance
  • pseudocorpus luteum insufficiency
endometriosis of ovary
  • ovarian endometriosis
breast cancer
  • breast cancer, familial
asperger syndrome
  • asperger disorder
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for HSD17B2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with HSD17B2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HSD17B2 Gene

Publications for HSD17B2 Gene

  1. Genetic variation in sex-steroid receptors and synthesizing enzymes and colorectal cancer risk in women. (PMID: 20148360) Lin J … Cook NR (Cancer causes & control : CCC 2010) 3 23 41
  2. A new polymorphism in the coding region of exon four in HSD17B2 in relation to risk of sporadic and hereditary breast cancer. (PMID: 17260097) Jansson A … Stål O (Breast cancer research and treatment 2007) 3 23 41
  3. Regulation of 17-beta hydroxysteroid dehydrogenase type 2 in human placental endothelial cells. (PMID: 17538076) Su EJ … Bulun SE (Biology of reproduction 2007) 3 23 26
  4. Polymorphisms associated with circulating sex hormone levels in postmenopausal women. (PMID: 15199113) Dunning AM … Ponder BA (Journal of the National Cancer Institute 2004) 3 23 41
  5. Mapping of the HSD17B2 gene encoding type II 17 beta-hydroxysteroid dehydrogenase close to D16S422 on chromosome 16q24.1-q24.2. (PMID: 7759109) Durocher F … Simard J (Genomics 1995) 2 3 23

Products for HSD17B2 Gene

Sources for HSD17B2 Gene