Free for academic non-profit institutions. Other users need a Commercial license

Aliases for HSD17B13 Gene

Aliases for HSD17B13 Gene

  • Hydroxysteroid (17-Beta) Dehydrogenase 13 2 3 5
  • Short Chain Dehydrogenase/Reductase Family 16C Member 3 3 4
  • Short-Chain Dehydrogenase/Reductase 9 3 4
  • 17-Beta-HSD 13 3 4
  • SDR16C3 3 4
  • SCDR9 3 4
  • Short Chain Dehydrogenase/Reductase Family 16C, Member 3 3
  • Short Chain Dehydrogenase/Reductase Family 16C 2
  • 17-Beta Hydroxysteroid Dehydrogenase 3
  • EC 1.1.-.- 4
  • Member 3 2
  • HMFN0376 3
  • 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 5-alpha reductase deficiency and mucopolysaccharidosis iii. GO annotations related to this gene include oxidoreductase activity. An important paralog of this gene is RDH10.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HSD17B13 Gene

Genomics for HSD17B13 Gene

Regulatory Elements for HSD17B13 Gene

Genomic Location for HSD17B13 Gene

Chromosome:
4
Start:
87,303,789 bp from pter
End:
87,322,906 bp from pter
Size:
19,118 bases
Orientation:
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:
    Q7Z5P4-DHB13_HUMAN
    Recommended name:
    17-beta-hydroxysteroid dehydrogenase 13
    Protein Accession:
    Q7Z5P4
    Secondary Accessions:
    • A8K9R9
    • Q2M1L5
    • Q86W22
    • Q86W23

    Protein attributes for HSD17B13 Gene

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

    Alternative splice isoforms for HSD17B13 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HSD17B13 Gene

Proteomics data for HSD17B13 Gene at MOPED

Post-translational modifications for HSD17B13 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HSD17B13 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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

Suggested Antigen Peptide Sequences for HSD17B13 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q7Z5P4

UniProtKB/Swiss-Prot:

DHB13_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 HSD17B13: view

Function for HSD17B13 Gene

Enzyme Numbers (IUBMB) for HSD17B13 Gene

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

Animal Model Products

  • Taconic Biosciences Mouse Models for HSD17B13

No data available for Molecular function , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for HSD17B13 Gene

Localization for HSD17B13 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HSD17B13 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HSD17B13 Gene COMPARTMENTS Subcellular localization image for HSD17B13 gene
Compartment Confidence
extracellular 4
endoplasmic reticulum 2
golgi apparatus 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for HSD17B13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with HSD17B13: view

Pathways & Interactions for HSD17B13 Gene

SuperPathways for HSD17B13 Gene

No Data Available

Interacting Proteins for HSD17B13 Gene

Gene Ontology (GO) - Biological Process for HSD17B13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0008152 metabolic process IEA --
GO:0046889 positive regulation of lipid biosynthetic process IDA 25028495
genes like me logo Genes that share ontologies with HSD17B13: view

No data available for Pathways by source and SIGNOR curated interactions for HSD17B13 Gene

Drugs & Compounds for HSD17B13 Gene

(22) Drugs for HSD17B13 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(22) 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

Unigene Clusters for HSD17B13 Gene

Hydroxysteroid (17-beta) dehydrogenase 13:
Representative Sequences:

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

No ASD Table

Relevant External Links for HSD17B13 Gene

GeneLoc Exon Structure for
HSD17B13
ECgene alternative splicing isoforms for
HSD17B13

Expression for HSD17B13 Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for HSD17B13 Gene



SOURCE GeneReport for Unigene cluster for HSD17B13 Gene Hs.284414

mRNA Expression by UniProt/SwissProt for HSD17B13 Gene

Q7Z5P4-DHB13_HUMAN
Tissue specificity: Highly expressed in the liver. Also detected in ovary, bone marrow, kidney, brain, lung, skeletal muscle, bladder and testis.
genes like me logo Genes that share expression patterns with HSD17B13: view

Protein tissue co-expression partners for HSD17B13 Gene

- Elite partner

Primer Products

In Situ Assay Products

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
chimpanzee
(Pan troglodytes)
Mammalia HSD17B13 35
  • 99.11 (n)
  • 98.33 (a)
HSD17B13 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HSD17B13 35
  • 86.9 (n)
  • 87.37 (a)
HSD17B13 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HSD17B13 36
  • 84 (a)
OneToOne
HSD17B13 35
  • 86.08 (n)
  • 84.21 (a)
mouse
(Mus musculus)
Mammalia Hsd17b13 16
Hsd17b13 36
  • 74 (a)
OneToOne
Hsd17b13 35
  • 80 (n)
  • 82.11 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 37 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Hsd17b13 35
  • 81.05 (n)
  • 82.11 (a)
chicken
(Gallus gallus)
Aves SDR16C5 36
  • 44 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 58 (a)
OneToMany
-- 36
  • 57 (a)
OneToMany
-- 36
  • 58 (a)
OneToMany
-- 36
  • 66 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia hsd17b13 35
  • 63.75 (n)
  • 63.87 (a)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-7k24.6 36
  • 35 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG15629 36
  • 32 (a)
ManyToMany
CG9265 36
  • 27 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea dhs-29 36
  • 21 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 36
  • 20 (a)
ManyToMany
TDA5 36
  • 19 (a)
ManyToMany
TDA5 38
Species with no ortholog for HSD17B13:
  • A. gosspyii yeast (Ashbya 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 squirt (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

ENSEMBL:
Gene Tree for HSD17B13 (if available)
TreeFam:
Gene Tree for HSD17B13 (if available)

Paralogs for HSD17B13 Gene

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 from dbSNP and Humsavar for HSD17B13 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs4305486 -- 87,303,325(+) ATGTA(C/T)GGTAT downstream-variant-500B
rs6850131 -- 87,305,328(+) AAAAA(A/C)AATTG intron-variant
rs6531970 -- 87,309,234(+) aaaaa(A/G)ttagt intron-variant
rs6531971 -- 87,309,340(+) gatca(C/T)gccac intron-variant
rs6531972 -- 87,309,585(+) aattg(A/C)tctat intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HSD17B13 Gene

Variant ID Type Subtype PubMed ID
nsv516203 CNV Loss 19592680
esv2667644 CNV Deletion 23128226
nsv470050 CNV Loss 18288195
nsv879527 CNV Loss 21882294
nsv525583 CNV Loss 19592680
nsv4412 CNV Loss 18451855
nsv293508 CNV Loss 16902084

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)

Relevant External Links for HSD17B13 Gene

HapMap Linkage Disequilibrium report
HSD17B13
Human Gene Mutation Database (HGMD)
HSD17B13

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

Disorders for HSD17B13 Gene

MalaCards: The human disease database

(2) MalaCards diseases for HSD17B13 Gene - From: GeneCards

Disorder Aliases PubMed IDs
5-alpha reductase deficiency
  • familial incomplete male pseudohermaphroditism, type 2
mucopolysaccharidosis iii
  • mucopolysaccharidosis type iiib
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for HSD17B13

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Chem. Biol. Interact. 2009) 2 3 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Comparative proteomic study reveals 17I^-HSD13 as a pathogenic protein in nonalcoholic fatty liver disease. (PMID: 25028495) Su W. … Guan Y. (Proc. Natl. Acad. Sci. U.S.A. 2014) 3
  4. Genetic variants associated with disordered eating. (PMID: 23568457) Wade T.D. … Martin N.G. (Int J Eat Disord 2013) 3
  5. Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. (PMID: 22001757) Chambers J.C. … Kooner J.S. (Nat. Genet. 2011) 3

Products for HSD17B13 Gene

Sources for HSD17B13 Gene

Back to Top

Content