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Short-chain alcohol dehydrogenases, such as HSD17B11, metabolize secondary alcohols and ketones (Brereton et al., 2001 [PubMed 11165019]).[supplied by OMIM, Jun 2009] See more...
Aliases for HSD17B11 Gene
Aliases for HSD17B11 Gene
- Hydroxysteroid 17-Beta Dehydrogenase 11 2 3 5
- Retinal Short-Chain Dehydrogenase/Reductase 2 2 3 4
- SDR16C2 2 3 4
- PAN1B 2 3 4
- Short Chain Dehydrogenase/Reductase Family 16C Member 2 3 4
- Cutaneous T-Cell Lymphoma-Associated Antigen HD-CL-03 3 4
- Dehydrogenase/Reductase SDR Family Member 8 3 4
- Estradiol 17-Beta-Dehydrogenase 11 3 4
- CTCL-Associated Antigen HD-CL-03 3 4
- 17-BETA-HSD11 2 3
- 17-BETA-HSDXI 2 3
- EC 1.1.1.62 4 51
- RetSDR2 2 4
- DHRS8 3 4
- Short Chain Dehydrogenase/Reductase Family 16C, Member 2 2
- Dehydrogenase/Reductase (SDR Family) Member 8 2
- 17-Beta-Hydroxysteroid Dehydrogenase Type XI 3
- Hydroxysteroid (17-Beta) Dehydrogenase 11 2
- 17-Beta-Hydroxysteroid Dehydrogenase 11 4
- 17-Beta-Hydroxysteroid Dehydrogenase XI 4
- CTCL Tumor Antigen HD-CL-03 3
- 17-Beta-HSD 11 4
- 17-Beta-HSD XI 4
- 17betaHSD11 4
- 17betaHSDXI 4
- 17BHSD11 3
- HSD17B11 5
- 17bHSD11 4
- EC 1.1.1 51
- RETSDR2 3
External Ids for HSD17B11 Gene
- HGNC: 22960
- NCBI Entrez Gene: 51170
- Ensembl: ENSG00000198189
- OMIM®: 612831
- UniProtKB/Swiss-Prot: Q8NBQ5
Previous HGNC Symbols for HSD17B11 Gene
- DHRS8
Previous GeneCards Identifiers for HSD17B11 Gene
- GC04M088477
- GC04M088257
- GC04M084003
Summaries for HSD17B11 Gene
-
Short-chain alcohol dehydrogenases, such as HSD17B11, metabolize secondary alcohols and ketones (Brereton et al., 2001 [PubMed 11165019]).[supplied by OMIM, Jun 2009]
GeneCards Summary for HSD17B11 Gene
HSD17B11 (Hydroxysteroid 17-Beta Dehydrogenase 11) is a Protein Coding gene. Diseases associated with HSD17B11 include Cutaneous T Cell Lymphoma. Among its related pathways are superpathway of steroid hormone biosynthesis and Metabolism of steroid hormones. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and steroid dehydrogenase activity. An important paralog of this gene is HSD17B13.
UniProtKB/Swiss-Prot Summary for HSD17B11 Gene
-
Can convert androstan-3-alpha,17-beta-diol (3-alpha-diol) to androsterone in vitro, suggesting that it may participate in androgen metabolism during steroidogenesis. May act by metabolizing compounds that stimulate steroid synthesis and/or by generating metabolites that inhibit it. Has no activity toward DHEA (dehydroepiandrosterone), or A-dione (4-androste-3,17-dione), and only a slight activity toward testosterone to A-dione. Tumor-associated antigen in cutaneous T-cell lymphoma.
Additional gene information for HSD17B11 Gene
- HGNC (22960)
- NCBI Entrez Gene (51170)
- Ensembl (ENSG00000198189)
- OMIM® (612831)
- UniProtKB/Swiss-Prot (Q8NBQ5)
- Open Targets Platform(ENSG00000198189)
- Search for HSD17B11 at DataMed
- Search for HSD17B11 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HSD17B11 Gene
Genomics for HSD17B11 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for HSD17B11 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around HSD17B11 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HSD17B11
- Top Transcription factor binding sites by QIAGEN in the HSD17B11 gene promoter:
-
- AML1a
- CREB
- deltaCREB
- FOXO1
- FOXO1a
- ISGF-3
- PPAR-alpha
- SRF
- SRF (504 AA)
- SRY
Genomic Locations for HSD17B11 Gene
Latest Assembly
- chr4:87,336,515-87,391,252
- (GRCh38/hg38)
- Size:
- 54,738 bases
- Orientation:
- Minus strand
Previous Assembly
- chr4:88,257,667-88,312,340
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 54,674 bases
- Orientation:
- Minus strand
- chr4:88,257,762-88,312,538
- (GRCh37/hg19 by Ensembl)
- Size:
- 54,777 bases
- Orientation:
- Minus strand
Genomic View for HSD17B11 Gene
Genes around HSD17B11 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 4q22.1 by HGNC
- 4q22.1 by Entrez Gene
- 4q22.1 by Ensembl
HSD17B11 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for HSD17B11 Gene
Proteins for HSD17B11 Gene
-
Protein details for HSD17B11 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8NBQ5-DHB11_HUMAN
- Recommended name:
- Estradiol 17-beta-dehydrogenase 11
- Protein Accession:
- Q8NBQ5
- Q96HF6
- Q9UKU4
Protein attributes for HSD17B11 Gene
- Size:
- 300 amino acids
- Molecular mass:
- 32936 Da
- Quaternary structure:
- No Data Available
Protein Expression for HSD17B11 Gene
Selected DME Specific Peptides for HSD17B11 Gene
- Q8NBQ5:
-
- VLITGAG
- VLITGAGHGIGRLTAYEFAK
- TTKAFLP
- VTVASAAGH
- GDVSILVNNAGVVYT
- NTGFIKNPST
Post-translational modifications for HSD17B11 Gene
Other Protein References for HSD17B11 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- G Biosciences Immunotag™ DHRS8 Antibody
-
Custom Antibody ServicesOriGene Antibodies for HSD17B11
- Novus Biologicals Antibodies for HSD17B11
-
Abcam antibodies for HSD17B11
- Invitrogen Antibodies for HSD17B11 (AFLGC-HSD17B11)
-
Boster Bio Antibodies for HSD17B11
-
Custom Antibody ServicesProSci Antibodies for HSD17B11
- Sino Biological Antibodies for HSD17B11
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for HSD17B11
- Origene Custom Protein Services for HSD17B11
- ProSpec Recombinant Proteins for HSD17B11
- antibodies-online: Show 9 available HSD17B11 Proteins ranked by validation data
- Compare Top HSD17B11 Proteins
-
Quality Products:
-
Abcam proteins for HSD17B11
Assay products for research
Domains & Families for HSD17B11 Gene
Gene Families for HSD17B11 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted intracellular proteins
Protein Domains for HSD17B11 Gene
- InterPro:
- Blocks:
-
- Short-chain dehydrogenase/reductase SDR
- Glucose/ribitol dehydrogenase family signature
- ProtoNet:
Suggested Antigen Peptide Sequences for HSD17B11 Gene
- GenScript: Design optimal peptide antigens:
-
- Retinal short-chain dehydrogenase/reductase 2 (DHB11_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q8NBQ5UniProtKB/Swiss-Prot:
DHB11_HUMAN :- Belongs to the short-chain dehydrogenases/reductases (SDR) family. 17-beta-HSD 3 subfamily.
- Family:
-
- Belongs to the short-chain dehydrogenases/reductases (SDR) family. 17-beta-HSD 3 subfamily.
Function for HSD17B11 Gene
Molecular function for HSD17B11 Gene
- UniProtKB/Swiss-Prot Function:
- Can convert androstan-3-alpha,17-beta-diol (3-alpha-diol) to androsterone in vitro, suggesting that it may participate in androgen metabolism during steroidogenesis. May act by metabolizing compounds that stimulate steroid synthesis and/or by generating metabolites that inhibit it. Has no activity toward DHEA (dehydroepiandrosterone), or A-dione (4-androste-3,17-dione), and only a slight activity toward testosterone to A-dione. Tumor-associated antigen in cutaneous T-cell lymphoma.
- 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:12697717};.
- 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:12697717};.
Enzyme Numbers (IUBMB) for HSD17B11 Gene
Phenotypes From GWAS Catalog for HSD17B11 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004303 | estradiol 17-beta-dehydrogenase activity | TAS | -- |
| GO:0005515 | protein binding | IPI | 32296183 |
| GO:0016229 | steroid dehydrogenase activity | IDA | 12697717 |
| GO:0016491 | oxidoreductase activity | IEA | -- |
| GO:0016616 | oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor | IBA | 21873635 |
Phenotypes for HSD17B11 Gene
- MGI mutant phenotypes for HSD17B11:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for HSD17B11:
Animal Models for HSD17B11 Gene
- MGI Knock Outs for HSD17B11:
-
- Hsd17b11 Hsd17b11<tm1.1(KOMP)Vlcg>
Animal Models for research
-
Taconic Biosciences Mouse Models for HSD17B11
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for HSD17B11 - Starting at $85 >
- * HSD17B11 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for HSD17B11
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HSD17B11
-
Santa Cruz Biotechnology (SCBT) CRISPR for HSD17B11
miRNA for HSD17B11 Gene
- miRTarBase miRNAs that target HSD17B11
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HSD17B11
- Browse OriGene Inhibitory RNA Products For HSD17B11
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HSD17B11
Clone products for research
- Applied Biological Materials (abm): Clones for HSD17B11 - Starting at $45 >
- * HSD17B11 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for HSD17B11
- Addgene plasmids for HSD17B11
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HSD17B11
Cell Lines for research
-
Horizon Cell Lines for HSD17B11
No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HSD17B11 Gene
Localization for HSD17B11 Gene
Subcellular locations from UniProtKB/Swiss-Prot for HSD17B11 Gene
- Endoplasmic reticulum. Lipid droplet. Note=Redistributed from the endoplasmic reticulum to lipids droplets in the cell upon induction of lipids droplet formation. {ECO:0000250 UniProtKB:Q9EQ06}.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 4 |
| cytosol | 4 |
| plasma membrane | 2 |
| extracellular | 2 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Lipid droplets (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IDA | 12697717 |
| GO:0005783 | endoplasmic reticulum | IEA | -- |
| GO:0005811 | lipid droplet | IDA | 14741744 |
| GO:0005829 | cytosol | TAS | -- |
Pathways & Interactions for HSD17B11 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism of steroid hormones | ||
| 2 | Metabolism |
.40
|
|
| 3 | superpathway of steroid hormone biosynthesis | ||
Pathways by source for HSD17B11 Gene
2 BioSystems pathways for HSD17B11 Gene
4 Reactome pathways for HSD17B11 Gene
Interacting Proteins for HSD17B11 Gene
Selected Interacting proteins:
Q8NBQ5-DHB11_HUMAN
ENSP00000351035
for HSD17B11 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for HSD17B11
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006629 | lipid metabolic process | IEA | -- |
| GO:0006694 | steroid biosynthetic process | IEA | -- |
| GO:0006703 | estrogen biosynthetic process | TAS | -- |
| GO:0006710 | androgen catabolic process | IDA | 12697717 |
| GO:0055114 | oxidation-reduction process | IEA | -- |
No data available for SIGNOR curated interactions for HSD17B11 Gene
Drugs & Compounds for HSD17B11 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Estradiol | Approved, Investigational, Vet_approved | Pharma | Sex hormone | 1147 | ||
| Estrone | Approved | Pharma | Estrogenic hormone | 24 | ||
| Testosterone | Approved, Investigational | Pharma | Endogenous androgen receptor agonist | 702 | ||
| Etiocholanolone | Experimental | Pharma | Target | 0 | ||
| NAD | Experimental | Pharma | 0 |
Transcripts for HSD17B11 Gene
mRNA/cDNA for HSD17B11 Gene
- 1 REFSEQ mRNAs :
- 15 NCBI additional mRNA sequence :
- 7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000358290 1782 nts (view in UCSC)
- ENST00000502576 571 nts (view in UCSC)
- ENST00000507286 851 nts (view in UCSC)
- ENST00000507518 843 nts (view in UCSC)
- ENST00000508413 563 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for HSD17B11 - Starting at $85 >
- * HSD17B11 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for HSD17B11
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HSD17B11
-
Santa Cruz Biotechnology (SCBT) CRISPR for HSD17B11
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HSD17B11
- Browse OriGene Inhibitory RNA Products For HSD17B11
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HSD17B11
Clone products for research
- Applied Biological Materials (abm): Clones for HSD17B11 - Starting at $45 >
- * HSD17B11 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for HSD17B11
- Addgene plasmids for HSD17B11
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HSD17B11
Relevant External Links for HSD17B11 Gene
- GeneLoc Exon Structure for
- HSD17B11
Expression for HSD17B11 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Ovary (Reproductive System)
- Pre-Granulosa Cells Primordial Follicle
-
Heart (Cardiovascular System)
- Atrioventricular Canal Cells Atrioventricular Canal
-
Peripheral Nervous System (Nervous System)
- Schwann Precursor Cells Peripheral Nerve Domain
-
Blood (Hematopoietic System)
- Hematopoietic Stem Cells Hematopoietic Bone Marrow
mRNA differential expression in normal tissues according to GTEx for HSD17B11 Gene
This gene is overexpressed in Whole Blood (x7.8).
This gene is overexpressed in Fetal Liver (10.3), Nasal epithelium (8.5), and Liver (7.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HSD17B11 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HSD17B11
SOURCE GeneReport for Unigene cluster for HSD17B11 Gene:
Hs.594923mRNA Expression by UniProt/SwissProt for HSD17B11 Gene:
Q8NBQ5-DHB11_HUMAN
Tissue specificity:
Present at high level in steroidogenic cells such as syncytiotrophoblasts, sebaceous gland, Leydig cells, and granulosa cells of the dominant follicle and corpus luteum. In lung, it is detected in the ciliated epithelium and in acini of adult trachea, in bronchioles, but not in alveoli. In the eye, it is detected in the nonpigmented epithelium of the ciliary body and, at lower level, in the inner nuclear layer of the retina (at protein level). Widely expressed. Highly expressed in retina, pancreas, kidney, liver, lung, adrenal, small intestine, ovary and heart.
Evidence on tissue expression from TISSUES for HSD17B11 Gene
- Liver(4.7)
- Intestine(4.5)
- Kidney(4.5)
- Bone marrow(4.3)
- Eye(4.2)
- Nervous system(3.5)
- Adrenal gland(2.4)
- Blood(2.4)
- Heart(2.2)
Primer products for research
-
OriGene qPCR primer pairs for HSD17B11
-
OriGene qPCR primer pairs and template standards for HSD17B11
Gene Expression Assays for research
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for HSD17B11 Gene
Orthologs for HSD17B11 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | HSD17B11 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | HSD17B11 30 |
|
||
| Cow (Bos Taurus) |
Mammalia | HSD17B11 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | HSD17B11 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Hsd17b11 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Hsd17b11 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | HSD17B11 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | HSD17B11 30 |
|
||
| -- 31 |
|
OneToMany | |||
| -- 31 |
|
OneToMany | |||
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | hsd17b11 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | sdr16c5a 31 |
|
ManyToMany | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG15629 31 |
|
ManyToMany | |
| CG9265 31 |
|
ManyToMany | |||
| Worm (Caenorhabditis elegans) |
Secernentea | dhs-29 31 |
|
ManyToMany | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | -- 31 |
|
ManyToMany | |
| TDA5 31 |
|
ManyToMany | |||
| -- 33 |
|
|
- Species where no ortholog for HSD17B11 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 HSD17B11 Gene
- ENSEMBL:
- Gene Tree for HSD17B11 (if available)
- TreeFam:
- Gene Tree for HSD17B11 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for HSD17B11: view image
Paralogs for HSD17B11 Gene
Paralogs for HSD17B11 Gene
(4) SIMAP similar genes for HSD17B11 Gene using alignment to 2 proteins:
- DHB11_HUMAN
- D6RCD0_HUMAN
Variants for HSD17B11 Gene
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv1410990 | CNV | deletion | 17803354 |
| esv2000200 | CNV | deletion | 18987734 |
| esv2057903 | CNV | deletion | 18987734 |
| esv2559237 | CNV | deletion | 19546169 |
| esv2665467 | CNV | deletion | 23128226 |
| esv2727938 | CNV | deletion | 23290073 |
| esv2727939 | CNV | deletion | 23290073 |
| esv3564200 | CNV | deletion | 23714750 |
| esv3564201 | CNV | deletion | 23714750 |
| esv3601271 | CNV | loss | 21293372 |
| esv3601274 | CNV | loss | 21293372 |
| nsv1002789 | CNV | loss | 25217958 |
| nsv1004518 | CNV | gain | 25217958 |
| nsv1114550 | CNV | deletion | 24896259 |
| nsv1114551 | CNV | deletion | 24896259 |
| nsv293528 | CNV | deletion | 16902084 |
| nsv436424 | CNV | deletion | 17901297 |
| nsv4412 | CNV | deletion | 18451855 |
| nsv499051 | CNV | loss | 21111241 |
| nsv513144 | CNV | loss | 21212237 |
| nsv951170 | CNV | deletion | 24416366 |
| nsv956429 | CNV | deletion | 24416366 |
Residual Variation Intolerance Score:
31.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.30;
6.62% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for HSD17B11 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- HSD17B11
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HSD17B11 Gene
Disorders for HSD17B11 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| cutaneous t cell lymphoma |
|
|
Search HSD17B11 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for HSD17B11
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for HSD17B11 Gene
Publications for HSD17B11 Gene
- 17 beta-hydroxysteroid dehydrogenase type XI localizes to human steroidogenic cells. (PMID: 12697717) Chai Z … Krozowski Z (Endocrinology 2003) 2 3 4 23
- Pan1b (17betaHSD11)-enzymatic activity and distribution in the lung. (PMID: 11165019) Brereton P … Krozowski Z (Molecular and cellular endocrinology 2001) 2 3 4
- The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B … Oppermann U (Chemico-biological interactions 2009) 2 3
- 17beta-hydroxysteroid dehydrogenase type 11 (Pan1b) expression in human prostate cancer. (PMID: 19469652) Nakamura Y … Sasano H (Neoplasma 2009) 3 23
- Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. (PMID: 16303743) Otsuki T … Isogai T (DNA research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4
ExternalLinks
Products for HSD17B11 Gene
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Sources for HSD17B11 Gene
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