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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 2
  • Hydroxysteroid (17-Beta) Dehydrogenase 13 2
  • 17-Beta-Hydroxysteroid Dehydrogenase 13 3
  • 17-Beta Hydroxysteroid Dehydrogenase 3
  • EC 1.1.-.- 4
  • 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. Among its related pathways are Metabolism and Lipoprotein metabolism. GO annotations related to this gene include oxidoreductase activity. An important paralog of this gene is HSD17B11.

Additional gene information for HSD17B13 Gene

No data available for Entrez Gene Summary , CIViC 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

Enhancers for HSD17B13 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04H087004 2 FANTOM5 Ensembl ENCODE dbSUPER 6.1 +312.5 312453 11 PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A ZNF2 YY1 ZNF766 ZNF143 AFF1 RPL6P13 C4orf36 AFF1-AS1 LOC100419572 LOC260422 MAPK10 HSD17B13 SLC10A6 GC04P087042
GH04H087219 1.1 ENCODE 8.7 +102.8 102774 2 HDGF PKNOX1 ARNT ARID4B SIN3A ZNF2 ZBTB7B YY1 ZNF766 ZNF143 KLHL8 HSD17B13 GC04P087226 GAPDHP60
GH04H086976 1.5 Ensembl ENCODE dbSUPER 6.1 +345.1 345124 2 FOXA2 ARID4B ZNF2 YY1 FOS ATF7 RUNX3 SP5 JUNB REST AFF1 LOC260422 HSD17B13 GC04P086967 PIR55151 GC04P087042
GH04H087017 1.4 Ensembl ENCODE dbSUPER 6 +303.9 303894 2 HDGF PKNOX1 ATF1 ARNT NFRKB BMI1 TCF12 ZNF121 GATA2 FOS AFF1 AFF1-AS1 C4orf36 LOC260422 HSD17B13 SLC10A6 GC04P087042 GC04P086967 PIR55151
GH04H087388 1.4 FANTOM5 ENCODE 5.9 -67.5 -67478 4 HDGF FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF207 SP3 RPL6P13 NUDT9 HSD17B11 LOC100419572 HSD17B13 AFF1 RN7SL681P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HSD17B13 on UCSC Golden Path with GeneCards custom track

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

Post-translational modifications for HSD17B13 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HSD17B13 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

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:0016491 oxidoreductase activity IEA --
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 Model Products

  • Taconic Biosciences Mouse Models for HSD17B13

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for HSD17B13
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Human Phenotype Ontology , 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
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
extracellular 4
cytosol 4
endoplasmic reticulum 2
golgi apparatus 2
plasma membrane 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:0005575 cellular_component ND --
GO:0005576 extracellular region IEA --
GO:0005811 lipid particle IDA 25028495
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with HSD17B13: view

Pathways & Interactions 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:0008150 biological_process ND --
GO:0034389 lipid particle 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

(27) Drugs for HSD17B13 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(17) 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for HSD17B13
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for HSD17B13 Gene



Protein tissue co-expression partners for HSD17B13 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HSD17B13 Gene:

HSD17B13

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.

Evidence on tissue expression from TISSUES for HSD17B13 Gene

  • Liver(4.6)
genes like me logo Genes that share expression patterns with HSD17B13: view

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia HSD17B13 33 34
  • 99.11 (n)
cow
(Bos Taurus)
Mammalia HSD17B13 33 34
  • 86.9 (n)
dog
(Canis familiaris)
Mammalia HSD17B13 33 34
  • 86.08 (n)
rat
(Rattus norvegicus)
Mammalia Hsd17b13 33
  • 81.05 (n)
mouse
(Mus musculus)
Mammalia Hsd17b13 33 16 34
  • 80 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 37 (a)
ManyToMany
chicken
(Gallus gallus)
Aves SDR16C5 34
  • 44 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 66 (a)
OneToMany
-- 34
  • 58 (a)
OneToMany
-- 34
  • 58 (a)
OneToMany
-- 34
  • 57 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia hsd17b13 33
  • 63.75 (n)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-7k24.6 34
  • 35 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG15629 34
  • 32 (a)
ManyToMany
CG9265 34
  • 27 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea dhs-29 34
  • 21 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 34
  • 20 (a)
ManyToMany
TDA5 34 36
  • 19 (a)
ManyToMany
Species where no ortholog for HSD17B13 was found in the sources mined by GeneCards:
  • 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
rs1000180912 -- 87,307,163(+) GAAAC(C/G)TTCAT intron-variant
rs1000230430 -- 87,319,912(+) CCTCA(G/T)GTGAC intron-variant
rs1000490883 -- 87,312,474(+) CGACT(A/G)TAGTC intron-variant
rs1000586617 -- 87,307,673(+) TTTTC(A/G)TATCT intron-variant
rs1001022662 -- 87,320,975(+) ACCAT(A/G)AAATT intron-variant

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)

Relevant External Links for HSD17B13 Gene

Human Gene Mutation Database (HGMD)
HSD17B13
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HSD17B13

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: HGMD, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
5-alpha reductase deficiency
  • familial incomplete male pseudohermaphroditism, type 2
mucopolysaccharidosis iii
  • heparan sulfate sulfatase deficiency
benign meningioma
  • meningioma, benign
- 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 (Chemico-biological interactions 2009) 2 3 60
  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 60
  3. 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 60
  4. 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 60
  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 60

Products for HSD17B13 Gene

Sources for HSD17B13 Gene

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