HSD17B7 encodes an enzyme that functions both as a 17-beta-hydroxysteroid dehydrogenase (EC 1.1.1.62) in the biosynthesis of sex steroids and as a 3-ketosteroid reductase (EC 1.1.1.270) in the biosynthesis of cholesterol (Marijanovic et al., 2003 [PubMed 12829805]).[supplied by OMIM, May 2010] See more...

Aliases for HSD17B7 Gene

Aliases for HSD17B7 Gene

  • Hydroxysteroid 17-Beta Dehydrogenase 7 2 3 5
  • SDR37C1 2 3 4
  • 3-Keto-Steroid Reductase/17-Beta-Hydroxysteroid Dehydrogenase 7 3 4
  • Short Chain Dehydrogenase/Reductase Family 37C Member 1 3 4
  • 17-Beta-Hydroxysteroid Dehydrogenase 7 3 4
  • Dihydrotestosterone Oxidoreductase 3 4
  • Estradiol 17-Beta-Dehydrogenase 7 3 4
  • 3-Keto-Steroid Reductase 3 4
  • 17-Beta-HSD 7 3 4
  • PRAP 2 3
  • Short Chain Dehydrogenase/Reductase Family 37C, Member 1 2
  • 17 Beta-Hydroxysteroid Dehydrogenase Type VII 3
  • Hydroxysteroid (17-Beta) Dehydrogenase 7 2
  • 17beta Hydroxysteroid Dehydrogenase 3
  • EC 1.1.1.270 4
  • EC 1.1.1.210 4
  • EC 1.1.1.62 4
  • HSD17B7 5
  • 17HSD7 4

External Ids for HSD17B7 Gene

Previous GeneCards Identifiers for HSD17B7 Gene

  • GC01P160395
  • GC01P158411
  • GC01P159456
  • GC01P159947
  • GC01P159492
  • GC01P161027
  • GC01P162760
  • GC01P134005

Summaries for HSD17B7 Gene

Entrez Gene Summary for HSD17B7 Gene

  • HSD17B7 encodes an enzyme that functions both as a 17-beta-hydroxysteroid dehydrogenase (EC 1.1.1.62) in the biosynthesis of sex steroids and as a 3-ketosteroid reductase (EC 1.1.1.270) in the biosynthesis of cholesterol (Marijanovic et al., 2003 [PubMed 12829805]).[supplied by OMIM, May 2010]

GeneCards Summary for HSD17B7 Gene

HSD17B7 (Hydroxysteroid 17-Beta Dehydrogenase 7) is a Protein Coding gene. Diseases associated with HSD17B7 include Ck Syndrome and Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects. Among its related pathways are Androstenedione and testosterone biosynthesis and metabolism p.1 and cholesterol biosynthesis I. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and estradiol 17-beta-dehydrogenase activity. An important paralog of this gene is WWOX.

UniProtKB/Swiss-Prot Summary for HSD17B7 Gene

  • Bifunctional enzyme involved in steroid-hormone metabolism and cholesterol biosynthesis (PubMed:12574203, PubMed:12732193, PubMed:12829805, PubMed:20659585, PubMed:19772289, PubMed:11165030). Catalyzes the NADP(H)-dependent reduction of estrogens and androgens and regulates the biological potency of these steroids. Converts estrone (E1) to a more potent estrogen, 17beta-estradiol (E2) (PubMed:12574203, PubMed:12732193, PubMed:19772289). Converts dihydrotestosterone (DHT) to its inactive form 5a-androstane-3b,17b-diol (PubMed:12574203, PubMed:12732193, PubMed:19772289). Converts moderately progesterone to 3beta-hydroxypregn-4-ene-20-one, leading to its inactivation (PubMed:12574203, PubMed:12732193). Additionally, participates in the post-squalene cholesterol biosynthesis, as a 3-ketosteroid reductase (PubMed:12829805, PubMed:20659585, PubMed:11165030).
  • [Isoform 3]: Does not have enzymatic activities toward E1 and DHT.

Gene Wiki entry for HSD17B7 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HSD17B7 Gene

Genomics for HSD17B7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HSD17B7 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
GH01J162788 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 260.5 -0.1 -77 3.6 NFIC YY1 CTCF CEBPB ZNF341 ELF1 KLF9 SP2 SMAD4 SAP130 HSD17B7 lnc-CCDC190-3 DDR2
GH01J162731 Enhancer 1.1 Ensembl ENCODE dbSUPER 5.8 -57.9 -57901 2 CEBPA KLF11 HOMEZ KMT2B FOXA2 SMAD4 SAP130 MIER3 RARA DMAP1 HSD17B7 piR-55194-030 HSALNG0008017-001 DDR2
GH01J162695 Enhancer 1.2 ENCODE CraniofacialAtlas dbSUPER 4.6 -94.1 -94086 2.8 ZMYM3 CEBPA ZSCAN16 POLR2A CHD4 CEBPB FEZF1 SIX4 ZNF341 HOMEZ DUSP12 DDR2 HSD17B7 HSALNG0008017-002 HSALNG0008017-001 RF00017-325
GH01J162741 Enhancer 0.3 dbSUPER 9 -48.2 -48179 2.4 YY1 HNF4A HSD17B7 DDR2 piR-55194-030 HSALNG0008017-001
GH01J162723 Enhancer 0.4 dbSUPER 5.3 -66.3 -66309 1.6 EGR2 ZFHX2 EGR1 DDR2 HSD17B7 HSALNG0008017-001 piR-55194-030
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HSD17B7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HSD17B7

Top Transcription factor binding sites by QIAGEN in the HSD17B7 gene promoter:
  • AREB6
  • ER-alpha
  • Evi-1
  • GATA-3
  • Nkx2-5
  • POU2F1
  • POU2F1a
  • Sp1

Genomic Locations for HSD17B7 Gene

Latest Assembly
chr1:162,790,702-162,812,823
(GRCh38/hg38)
Size:
22,122 bases
Orientation:
Plus strand

Previous Assembly
chr1:162,760,492-162,782,613
(GRCh37/hg19 by Entrez Gene)
Size:
22,122 bases
Orientation:
Plus strand

chr1:162,760,492-162,782,607
(GRCh37/hg19 by Ensembl)
Size:
22,116 bases
Orientation:
Plus strand

Genomic View for HSD17B7 Gene

Genes around HSD17B7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HSD17B7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HSD17B7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSD17B7 Gene

Proteins for HSD17B7 Gene

  • Protein details for HSD17B7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P56937-DHB7_HUMAN
    Recommended name:
    3-keto-steroid reductase/17-beta-hydroxysteroid dehydrogenase 7
    Protein Accession:
    P56937
    Secondary Accessions:
    • Q5T246
    • Q7Z4V9
    • Q8WWS2
    • Q9UF00

    Protein attributes for HSD17B7 Gene

    Size:
    341 amino acids
    Molecular mass:
    38206 Da
    Quaternary structure:
    • Binds to the short form of prolactin receptor.

    Alternative splice isoforms for HSD17B7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HSD17B7 Gene

Post-translational modifications for HSD17B7 Gene

  • Phosphorylated.
  • Glycosylation at Asn37, Asn178, and Asn229
  • Ubiquitination at Lys20 and Lys315
  • Modification sites at PhosphoSitePlus

Other Protein References for HSD17B7 Gene

Antibodies for research

  • Abcam antibodies for HSD17B7

No data available for DME Specific Peptides for HSD17B7 Gene

Domains & Families for HSD17B7 Gene

Gene Families for HSD17B7 Gene

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

Protein Domains for HSD17B7 Gene

InterPro:
Blocks:
  • Short-chain dehydrogenase/reductase SDR
  • Glucose/ribitol dehydrogenase family signature

Suggested Antigen Peptide Sequences for HSD17B7 Gene

GenScript: Design optimal peptide antigens:
  • Estradiol 17-beta-dehydrogenase 7 (DHB7_HUMAN)
  • Hydroxysteroid (17-beta) dehydrogenase 7 (Q5T250_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P56937

UniProtKB/Swiss-Prot:

DHB7_HUMAN :
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family. ERG27 subfamily.
Family:
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family. ERG27 subfamily.
genes like me logo Genes that share domains with HSD17B7: view

Function for HSD17B7 Gene

Molecular function for HSD17B7 Gene

UniProtKB/Swiss-Prot Function:
Bifunctional enzyme involved in steroid-hormone metabolism and cholesterol biosynthesis (PubMed:12574203, PubMed:12732193, PubMed:12829805, PubMed:20659585, PubMed:19772289, PubMed:11165030). Catalyzes the NADP(H)-dependent reduction of estrogens and androgens and regulates the biological potency of these steroids. Converts estrone (E1) to a more potent estrogen, 17beta-estradiol (E2) (PubMed:12574203, PubMed:12732193, PubMed:19772289). Converts dihydrotestosterone (DHT) to its inactive form 5a-androstane-3b,17b-diol (PubMed:12574203, PubMed:12732193, PubMed:19772289). Converts moderately progesterone to 3beta-hydroxypregn-4-ene-20-one, leading to its inactivation (PubMed:12574203, PubMed:12732193). Additionally, participates in the post-squalene cholesterol biosynthesis, as a 3-ketosteroid reductase (PubMed:12829805, PubMed:20659585, PubMed:11165030).
UniProtKB/Swiss-Prot Function:
[Isoform 3]: Does not have enzymatic activities toward E1 and DHT.
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; Evidence={ECO:0000269|PubMed:12574203, ECO:0000269|PubMed:12732193, ECO:0000269|PubMed:19772289};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 3beta-hydroxysteroid + NADP(+) = a 3-oxosteroid + H(+) + NADPH; Xref=Rhea:RHEA:34787, ChEBI:CHEBI:15378, ChEBI:CHEBI:36836, ChEBI:CHEBI:47788, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.1.1.270; Evidence={ECO:0000269|PubMed:12829805, ECO:0000269|PubMed:20659585};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=4alpha-methyl-5alpha-cholesta-8,24-dien-3-one + H(+) + NADPH = 4alpha-methyl-5alpha-cholesta-8,24-dien-3beta-ol + NADP(+); Xref=Rhea:RHEA:36379, ChEBI:CHEBI:1949, ChEBI:CHEBI:15378, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:136486; EC=1.1.1.270; Evidence={ECO:0000269|PubMed:20659585};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + NADPH + zymosterone = 5alpha-cholesta-8,24-dien-3beta-ol + NADP(+); Xref=Rhea:RHEA:33459, ChEBI:CHEBI:15378, ChEBI:CHEBI:18252, ChEBI:CHEBI:52386, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; Evidence={ECO:0000269|PubMed:11165030, ECO:0000269|PubMed:12829805};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=5alpha-cholest-8-en-3-one + H(+) + NADPH = 5alpha-cholest-8-en-3beta-ol + NADP(+); Xref=Rhea:RHEA:46852, ChEBI:CHEBI:15378, ChEBI:CHEBI:16608, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:87056; Evidence={ECO:0000269|PubMed:11165030};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=5alpha-androstane-3beta,17beta-diol + NADP(+) = 17beta-hydroxy-5alpha-androstan-3-one + H(+) + NADPH; Xref=Rhea:RHEA:16297, ChEBI:CHEBI:15378, ChEBI:CHEBI:16330, ChEBI:CHEBI:18329, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.1.1.210; Evidence={ECO:0000269|PubMed:12574203, ECO:0000269|PubMed:12732193, ECO:0000269|PubMed:19772289};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + NADPH + progesterone = 3beta-hydroxypregn-4-ene-20-one + NADP(+); Xref=Rhea:RHEA:46216, ChEBI:CHEBI:15378, ChEBI:CHEBI:17026, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:85899; Evidence={ECO:0000269|PubMed:12574203, ECO:0000269|PubMed:12732193};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=3.25 uM for estrone {ECO:0000269|PubMed:12732193}; KM=2.60 uM for 17beta-hydroxy-5alpha-androstan-3-one {ECO:0000269|PubMed:12732193};
UniProtKB/Swiss-Prot EnzymeRegulation:
Estradiol 17-beta-dehydrogenase and dihydrotestosterone oxidoreductase activities are selectively inhibited by 4-methyl-4-aza-5alpha-androstane derivatives, such as 17beta-[(N-Heptyl)methylamino]-4-aza-5r-androstan-3-one and 17beta-(N-Decylformamido)-4-aza-5r-androstan-3-one.
GENATLAS Biochemistry:
17 beta hydroxysteroid dehydrogenase type 7,expressed in the corpus luteum during pregnancy,responsible for extradive biosynthesis

Enzyme Numbers (IUBMB) for HSD17B7 Gene

Phenotypes From GWAS Catalog for HSD17B7 Gene

Gene Ontology (GO) - Molecular Function for HSD17B7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000253 3-keto sterol reductase activity TAS --
GO:0004303 estradiol 17-beta-dehydrogenase activity TAS,IDA 12732193
GO:0016491 oxidoreductase activity IEA --
GO:0047024 5alpha-androstane-3beta,17beta-diol dehydrogenase activity IEA,IDA 12732193
genes like me logo Genes that share ontologies with HSD17B7: view
genes like me logo Genes that share phenotypes with HSD17B7: view

Animal Models for HSD17B7 Gene

MGI Knock Outs for HSD17B7:

Animal Models for research

  • Taconic Biosciences Mouse Models for HSD17B7

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HSD17B7

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HSD17B7 Gene

Localization for HSD17B7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HSD17B7 Gene

Endoplasmic reticulum membrane. Single-pass 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 HSD17B7 gene
Compartment Confidence
endoplasmic reticulum 4
mitochondrion 3
plasma membrane 2
extracellular 2
nucleus 2
cytosol 2
cytoskeleton 1
peroxisome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for HSD17B7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IBA 21873635
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 HSD17B7: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HSD17B7 Gene

Pathways & Interactions for HSD17B7 Gene

genes like me logo Genes that share pathways with HSD17B7: view

Pathways by source for HSD17B7 Gene

3 GeneGo (Thomson Reuters) pathways for HSD17B7 Gene
  • Androstenedione and testosterone biosynthesis and metabolism p.1
  • Estrogen biosynthesis
  • Estrone metabolism

UniProtKB/Swiss-Prot P56937-DHB7_HUMAN

  • Pathway: Steroid biosynthesis; estrogen biosynthesis.
  • Pathway: Steroid biosynthesis; zymosterol biosynthesis; zymosterol from lanosterol: step 5/6.

Gene Ontology (GO) - Biological Process for HSD17B7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006694 steroid biosynthetic process IEA --
GO:0006695 cholesterol biosynthetic process TAS --
GO:0006703 estrogen biosynthetic process IEA --
GO:0008209 androgen metabolic process IDA 12732193
genes like me logo Genes that share ontologies with HSD17B7: view

No data available for SIGNOR curated interactions for HSD17B7 Gene

Drugs & Compounds for HSD17B7 Gene

(12) Drugs for HSD17B7 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Estradiol Approved, Investigational, Vet_approved Pharma Sex hormone 1160
Estriol Approved, Investigational, Vet_approved Pharma 0
Estrone Approved Pharma Estrogenic hormone 24

(14) Additional Compounds for HSD17B7 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
3-Keto-4-methylzymosterol
  • (5a)-4-Methylcholesta-8,24-dien-3-one
  • (5alpha)-4-Methylcholesta-8,24-dien-3-one
  • 3-Dehydro-4-methylzymosterol
  • 4-Methyl-5a-cholesta-8,24-dien-3-one
  • 4-Methyl-5alpha-cholesta-8,24-dien-3-one
4-alpha-Methyl-5-alpha-cholest-7-en-3-beta-ol
  • 4-a-Methyl-5-a-cholest-7-en-3-b-ol
  • 4-Α-methyl-5-α-cholest-7-en-3-β-ol
  • 4-alpha-Methyl-5-alpha-cholest-7-en-3-beta-ol
  • 4-Methylcholest-7-en-3-ol
  • 4alpha-Methyl-5alpha-cholest-7-en-3beta-ol
481-25-4
genes like me logo Genes that share compounds with HSD17B7: view

Transcripts for HSD17B7 Gene

mRNA/cDNA for HSD17B7 Gene

3 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
10 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 HSD17B7

Alternative Splicing Database (ASD) splice patterns (SP) for HSD17B7 Gene

No ASD Table

Relevant External Links for HSD17B7 Gene

GeneLoc Exon Structure for
HSD17B7

Expression for HSD17B7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HSD17B7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HSD17B7 Gene

This gene is overexpressed in Liver (x6.0).

Protein differential expression in normal tissues from HIPED for HSD17B7 Gene

This gene is overexpressed in Colon muscle (32.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HSD17B7 Gene



Protein tissue co-expression partners for HSD17B7 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HSD17B7

SOURCE GeneReport for Unigene cluster for HSD17B7 Gene:

Hs.492925

mRNA Expression by UniProt/SwissProt for HSD17B7 Gene:

P56937-DHB7_HUMAN
Tissue specificity: Highly expressed in adrenal gland, liver, lung and thymus. Expressed in breast, ovaries, pituitary gland, pregnant uterus, prostate, kidney, lymph node, small intestine, spinal cord and trachea. Weakly expressed in all other tissues tested.

Evidence on tissue expression from TISSUES for HSD17B7 Gene

  • Liver(4.4)
  • Skin(4.4)
  • Adrenal gland(2)
genes like me logo Genes that share expression patterns with HSD17B7: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for HSD17B7 Gene

Orthologs for HSD17B7 Gene

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

Orthologs for HSD17B7 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia HSD17B7 29 30
  • 99.61 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HSD17B7 29 30
  • 86.79 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HSD17B7 29 30
  • 85.66 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Hsd17b7 29
  • 81.84 (n)
Mouse
(Mus musculus)
Mammalia Hsd17b7 29 16 30
  • 80.42 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia HSD17B7 30
  • 76 (a)
OneToOne
Chicken
(Gallus gallus)
Aves HSD17B7 29 30
  • 65.53 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia HSD17B7 30
  • 55 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia hsd17b7 29
  • 67.7 (n)
Zebrafish
(Danio rerio)
Actinopterygii hsd17b7 29 30 30
  • 64.2 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG27 29 30 32
  • 42.98 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F19756g 29
  • 41.41 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AGR068W 29
  • 40.25 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes erg27 29
  • 42.75 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.9141 30
  • 42 (a)
OneToOne
Species where no ortholog for HSD17B7 was found in the sources mined by GeneCards:
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • 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 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)
  • Worm (Caenorhabditis elegans)

Evolution for HSD17B7 Gene

ENSEMBL:
Gene Tree for HSD17B7 (if available)
TreeFam:
Gene Tree for HSD17B7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HSD17B7: view image
Alliance of Genome Resources:
Additional Orthologs for HSD17B7

Paralogs for HSD17B7 Gene

(1) SIMAP similar genes for HSD17B7 Gene using alignment to 5 proteins:

  • DHB7_HUMAN
  • F2Z2C2_HUMAN
  • Q5T248_HUMAN
  • Q5T249_HUMAN
  • V9GYN3_HUMAN

Pseudogenes.org Pseudogenes for HSD17B7 Gene

genes like me logo Genes that share paralogs with HSD17B7: view

Variants for HSD17B7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HSD17B7 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs114630349 Benign: not provided 162,797,889(+) G/A
NM_016371.3(HSD17B7):c.420G>A (p.Glu140=)
SYNONYMOUS_VARIANT,THREE_PRIME_UTR
rs116929795 Benign: not provided 162,790,832(+) G/C
NM_016371.3(HSD17B7):c.32G>C (p.Ser11Thr)
MISSENSE
rs2684875 Benign: not provided 162,812,355(+) A/G
NM_016371.3(HSD17B7):c.961A>G (p.Lys321Glu)
MISSENSE
rs35961178 Benign: not provided 162,804,262(+) C/T
NM_016371.3(HSD17B7):c.748-5C>T
INTRON
rs369875215 Likely Benign: not provided 162,804,308(+) T/C
NM_016371.3(HSD17B7):c.789T>C (p.Asn263=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for HSD17B7 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 HSD17B7 Gene

Variant ID Type Subtype PubMed ID
esv1698857 CNV insertion 17803354
nsv516482 CNV gain+loss 19592680
nsv946475 CNV duplication 23825009

Variation tolerance for HSD17B7 Gene

Residual Variation Intolerance Score: 40.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.09; 69.05% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HSD17B7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HSD17B7
Leiden Open Variation Database (LOVD)
HSD17B7

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSD17B7 Gene

Disorders for HSD17B7 Gene

MalaCards: The human disease database

(4) MalaCards diseases for HSD17B7 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for HSD17B7

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 HSD17B7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HSD17B7 Gene

Publications for HSD17B7 Gene

  1. Determination of cDNA, gene structure and chromosomal localization of the novel human 17beta-hydroxysteroid dehydrogenase type 7(1). (PMID: 10544267) Krazeisen A … Adamski J (FEBS letters 1999) 2 3 4 22
  2. Maternal and fetal genetic associations of PTGER3 and PON1 with preterm birth. (PMID: 20140262) Ryckman KK … Jacobsson B (PloS one 2010) 3 40
  3. Genetic variation in the estrogen metabolic pathway and mammographic density as an intermediate phenotype of breast cancer. (PMID: 20214802) Li J … Hall P (Breast cancer research : BCR 2010) 3 40
  4. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B … Oppermann U (Chemico-biological interactions 2009) 2 3
  5. Analysis of 17beta-hydroxysteroid dehydrogenase types 5, 7, and 12 genetic sequence variants in breast cancer cases from French Canadian Families with high risk of breast and ovarian cancer. (PMID: 19460435) Plourde M … Simard J (The Journal of steroid biochemistry and molecular biology 2009) 3 40

Products for HSD17B7 Gene

Sources for HSD17B7 Gene