Aliases for HSD17B13 Gene

Aliases for HSD17B13 Gene

  • Hydroxysteroid 17-Beta Dehydrogenase 13 2 3 5
  • SDR16C3 2 3 4
  • SCDR9 2 3 4
  • Short Chain Dehydrogenase/Reductase Family 16C Member 3 3 4
  • 17-Beta-Hydroxysteroid Dehydrogenase 13 3 4
  • Short-Chain Dehydrogenase/Reductase 9 3 4
  • 17-Beta-HSD 13 3 4
  • Short Chain Dehydrogenase/Reductase Family 16C, Member 3 2
  • Hydroxysteroid (17-Beta) Dehydrogenase 13 2
  • 17-Beta Hydroxysteroid Dehydrogenase 3
  • EC 1.1.-.- 4
  • HMFN0376 3
  • HSD17B13 5
  • NIIL497 3

External Ids for HSD17B13 Gene

Previous GeneCards Identifiers for HSD17B13 Gene

  • GC00U991221
  • GC04M088583
  • GC04M088443
  • GC04M088224
  • GC04M083970

Summaries for HSD17B13 Gene

GeneCards Summary for HSD17B13 Gene

HSD17B13 (Hydroxysteroid 17-Beta Dehydrogenase 13) is a Protein Coding gene. Diseases associated with HSD17B13 include Mucopolysaccharidosis Iii and Pseudohermaphroditism. Among its related pathways are Metabolism and Lipoprotein metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity. An important paralog of this gene is HSD17B11.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HSD17B13 Gene

Genomics for HSD17B13 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HSD17B13 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J087322 Promoter 0.7 EPDnew 250.7 0.0 -14 0.1 RXRA FOXA2 JUND HNF4A RAD21 REST SP1 TAF1 YY1 HSD17B13 piR-52294-100 ENSG00000255723 HSD17B11
GH04J087323 Enhancer 0.3 Ensembl 258.7 -1.3 -1315 0.4 HLF HSD17B13 piR-52294-100 ENSG00000255723 HSD17B11
GH04J087219 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 8.7 +102.7 102686 2.8 ZSCAN16 CHD2 TBP ZBTB10 MXD4 SIX5 NR2C1 MNT IKZF1 SMAD5 KLHL8 HSD17B13 piR-57138-039 GAPDHP60 lnc-KLHL8-1 ENSG00000285458
GH04J087386 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 5.9 -66.8 -66790 5.5 TBP MXD4 FEZF1 CEBPA MNT IKZF1 SMAD5 IRF2 MBD2 ZNF217 HSD17B11 lnc-HSD17B13-3 NUDT9 RPL6P13 HSD17B13 AFF1 RF00017-4356 lnc-HSD17B13-2 RN7SL681P
GH04J086917 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 6.1 +400.4 400385 14.2 CEBPA DEK IKZF1 IRF2 BRCA1 CTCF HOMEZ THAP11 CEBPB ZNF395 C4orf36 ENSG00000251411 AFF1 HSD17B13 PTPN13 HSD17B11 LOC260422 AFF1-AS1 ENSG00000284968 ENSG00000285458
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HSD17B13 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HSD17B13

Top Transcription factor binding sites by QIAGEN in the HSD17B13 gene promoter:
  • AML1a
  • Cdc5
  • GATA-1
  • p53
  • POU2F1
  • POU2F1a
  • SEF-1 (1)
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for HSD17B13 Gene

Latest Assembly
19,098 bases
Minus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
19,089 bases
Minus strand

(GRCh37/hg19 by Ensembl)
19,118 bases
Minus strand

Genomic View for HSD17B13 Gene

Genes around HSD17B13 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HSD17B13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HSD17B13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSD17B13 Gene

Proteins for HSD17B13 Gene

  • Protein details for HSD17B13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    17-beta-hydroxysteroid dehydrogenase 13
    Protein Accession:
    Secondary Accessions:
    • A8K9R9
    • Q2M1L5
    • Q86W22
    • Q86W23

    Protein attributes for HSD17B13 Gene

    300 amino acids
    Molecular mass:
    33655 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for HSD17B13 Gene


neXtProt entry for HSD17B13 Gene

Post-translational modifications for HSD17B13 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HSD17B13 Gene

No data available for DME Specific Peptides for HSD17B13 Gene

Domains & Families for HSD17B13 Gene

Gene Families for HSD17B13 Gene

Protein Domains for HSD17B13 Gene

  • Short-chain dehydrogenase/reductase SDR

Suggested Antigen Peptide Sequences for HSD17B13 Gene

GenScript: Design optimal peptide antigens:
  • Short-chain dehydrogenase/reductase 9 (DHB13_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
genes like me logo Genes that share domains with HSD17B13: view

Function for HSD17B13 Gene

Enzyme Numbers (IUBMB) for HSD17B13 Gene

Phenotypes From GWAS Catalog for HSD17B13 Gene

Gene Ontology (GO) - Molecular Function for HSD17B13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 32296183
GO:0016229 steroid dehydrogenase activity IBA 21873635
GO:0016491 oxidoreductase activity IEA --
GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IBA 21873635
genes like me logo Genes that share ontologies with HSD17B13: view
genes like me logo Genes that share phenotypes with HSD17B13: view

Animal Models for HSD17B13 Gene

MGI Knock Outs for HSD17B13:

Animal Models for research

  • Taconic Biosciences Mouse Models for HSD17B13

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HSD17B13

Clone products for research

No data available for Molecular function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HSD17B13 Gene

Localization for HSD17B13 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HSD17B13 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:Q8VCR2}.

Subcellular locations from

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 HSD17B13 gene
Compartment Confidence
endoplasmic reticulum 4
cytosol 4
extracellular 2
golgi apparatus 2
plasma membrane 1
mitochondrion 1
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HSD17B13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005811 lipid droplet IDA 25028495
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with HSD17B13: view

Pathways & Interactions for HSD17B13 Gene

PathCards logo

SuperPathways for HSD17B13 Gene

genes like me logo Genes that share pathways with HSD17B13: view

Pathways by source for HSD17B13 Gene

Gene Ontology (GO) - Biological Process for HSD17B13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0034389 lipid droplet organization TAS --
GO:0046889 positive regulation of lipid biosynthetic process IDA 25028495
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with HSD17B13: view

No data available for SIGNOR curated interactions for HSD17B13 Gene

Drugs & Compounds for HSD17B13 Gene

(28) Drugs for HSD17B13 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(16) Additional Compounds for HSD17B13 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with HSD17B13: view

Transcripts for HSD17B13 Gene

mRNA/cDNA for HSD17B13 Gene

9 NCBI additional mRNA sequence :
2 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 HSD17B13

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for HSD17B13 Gene

No ASD Table

Relevant External Links for HSD17B13 Gene

GeneLoc Exon Structure for

Expression for HSD17B13 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HSD17B13 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HSD17B13 Gene

This gene is overexpressed in Liver (x31.0).

Protein differential expression in normal tissues from HIPED for HSD17B13 Gene

This gene is overexpressed in Gallbladder (37.6), Liver (17.4), and Nasal epithelium (13.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HSD17B13 Gene

Protein tissue co-expression partners for HSD17B13 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HSD17B13

SOURCE GeneReport for Unigene cluster for HSD17B13 Gene:


mRNA Expression by UniProt/SwissProt for HSD17B13 Gene:

Tissue specificity: Highly expressed in the liver. Also detected in ovary, bone marrow, kidney, brain, lung, skeletal muscle, bladder and testis.

Evidence on tissue expression from TISSUES for HSD17B13 Gene

  • Liver(4.7)
genes like me logo Genes that share expression patterns with HSD17B13: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for HSD17B13 Gene

Orthologs for HSD17B13 Gene

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

Orthologs for HSD17B13 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia HSD17B13 30 31
  • 99.11 (n)
(Bos Taurus)
Mammalia HSD17B13 30 31
  • 86.9 (n)
(Canis familiaris)
Mammalia HSD17B13 30 31
  • 86.08 (n)
(Rattus norvegicus)
Mammalia Hsd17b13 30
  • 81.05 (n)
(Mus musculus)
Mammalia Hsd17b13 30 17 31
  • 80 (n)
(Monodelphis domestica)
Mammalia -- 31
  • 37 (a)
(Gallus gallus)
Aves SDR16C5 31
  • 44 (a)
(Anolis carolinensis)
Reptilia -- 31
  • 66 (a)
-- 31
  • 58 (a)
-- 31
  • 58 (a)
-- 31
  • 57 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia hsd17b13 30
  • 63.75 (n)
(Danio rerio)
Actinopterygii si:dkey-7k24.6 31
  • 35 (a)
Fruit Fly
(Drosophila melanogaster)
Insecta CG15629 31
  • 32 (a)
CG9265 31
  • 27 (a)
(Caenorhabditis elegans)
Secernentea dhs-29 31
  • 21 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 31
  • 20 (a)
TDA5 31 33
  • 19 (a)
Species where no ortholog for HSD17B13 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)
  • 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 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 HSD17B13 Gene

Gene Tree for HSD17B13 (if available)
Gene Tree for HSD17B13 (if available)
Evolutionary constrained regions (ECRs) for HSD17B13: view image

Paralogs for HSD17B13 Gene

(4) SIMAP similar genes for HSD17B13 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with HSD17B13: view

Variants for HSD17B13 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HSD17B13 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs111403391 Benign: not provided 87,310,339(-) G/A
NM_178135.5(HSD17B13):c.716C>T (p.Thr239Ile)
rs114287473 Benign: not provided 87,305,285(-) G/A
NM_178135.5(HSD17B13):c.836C>T (p.Ala279Val)
rs201689424 Benign: not provided 87,315,607(-) A/C
rs76926692 Benign: not provided 87,310,276(-) G/T
NM_178135.5(HSD17B13):c.779C>A (p.Pro260Gln)

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for HSD17B13 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 HSD17B13 Gene

Variant ID Type Subtype PubMed ID
dgv1012e214 CNV loss 21293372
esv2667644 CNV deletion 23128226
esv2760913 CNV loss 21179565
esv3601271 CNV loss 21293372
esv3601272 CNV loss 21293372
nsv1002789 CNV loss 25217958
nsv1004518 CNV gain 25217958
nsv293508 CNV deletion 16902084
nsv4412 CNV deletion 18451855
nsv470050 CNV loss 18288195
nsv516203 CNV loss 19592680
nsv525583 CNV loss 19592680

Variation tolerance for HSD17B13 Gene

Residual Variation Intolerance Score: 80.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.91; 89.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HSD17B13 Gene

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

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSD17B13 Gene

Disorders for HSD17B13 Gene

MalaCards: The human disease database

(3) MalaCards diseases for HSD17B13 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
mucopolysaccharidosis iii
  • heparan sulfate sulfatase deficiency
  • indeterminate sex and pseudohermaphroditism
breast cancer
  • breast cancer, familial
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for HSD17B13

genes like me logo Genes that share disorders with HSD17B13: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HSD17B13 Gene

Publications for HSD17B13 Gene

  1. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B … Oppermann U (Chemico-biological interactions 2009) 2 3
  2. Molecular cloning and expression analysis of a new gene for short-chain dehydrogenase/reductase 9. (PMID: 17311113) Liu S … Yu L (Acta biochimica Polonica 2007) 3 4
  3. Expression profiling and differential screening between hepatoblastomas and the corresponding normal livers: identification of high expression of the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas. (PMID: 15221005) Yamada S … Nakagawara A (Oncogene 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4

Products for HSD17B13 Gene

  • Biorbyt antibodies for HSD17B13

Sources for HSD17B13 Gene