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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HSD17B13 Gene

protein-coding   GIFtS: 45
GCID: GC04M088224

hydroxysteroid (17-beta) dehydrogenase 13
 Explore 36 diseases affiliated with
HSD17B13 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for HSD17B13    

Aliases
for HSD17B13 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Hydroxysteroid (17-Beta) Dehydrogenase 131 2     17-Beta Hydroxysteroid Dehydrogenase2
SCDR91 2 3 5     17-Beta-Hydroxysteroid Dehydrogenase 132
SDR16C31 2     NIIL4972
Short-Chain Dehydrogenase/Reductase 92 3     Short Chain Dehydrogenase/Reductase Family 16C, Member 32
17-Beta-HSD 132 3     EC 1.1.-.-3

External Ids:    HGNC: 186851   Entrez Gene: 3452752   Ensembl: ENSG000001705097   OMIM: 6121275   UniProtKB: Q7Z5P43   

Export aliases for HSD17B13 gene to outside databases

Previous GC identifers: GC00U991221 GC04M088583 GC04M088443 GC04M083970


Summaries
for HSD17B13 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
  --

Genomic Views
for HSD17B13 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.1  NT_016354.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HSD17B13 gene promoter:
         p53   AML1a   SREBP-1c   Cdc5   GATA-1   SREBP-1b   POU2F1   SREBP-1a   POU2F1a   SEF-1 (1)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: HSD17B13 promoter sequence
   Search SABiosciences Chromatin IP Primers for HSD17B13

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HSD17B13


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q22.1   Ensembl cytogenetic band:  4q22.1   HGNC cytogenetic band: 4q22.1

HSD17B13 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HSD17B13 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M088224:  view genomic region     (about GC identifiers)

Start:
 88,224,941 bp from pter      End:
 88,244,058 bp from pter
Size:
 19,118 bases      Orientation:
 minus strand

Proteins
for HSD17B13 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: DHB13_HUMAN, Q7Z5P4 (See protein sequence)
Recommended Name: 17-beta-hydroxysteroid dehydrogenase 13 precursor  
Size: 300 amino acids; 33655 Da
Subcellular location: Secreted (Potential)
Secondary accessions: A8K9R9 Q2M1L5 Q86W22 Q86W23
Alternative splicing: 2 isoforms:  Q7Z5P4-1   Q7Z5P4-2   

Explore the universe of human proteins at neXtProt for HSD17B13: NX_Q7Z5P4

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q7Z5P4

    • HSD17B13 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001129702.1  NP_835236.2  

    ENSEMBL proteins: 
     ENSP00000305438   ENSP00000333300  

    Human Recombinant Protein Products: 
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    Novus Biologicals HSD17B13 Lysate
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    Browse Proteins at Uscn

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005576extracellular region IEA--


    HSD17B13 for ontologies           About GeneDecksing



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    Browse ELISAs and CLIAs at Uscn

    Protein Domains /
    Families
    for HSD17B13 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HSD17B13 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR002347 Glc/ribitol_DH
     IPR002198 DH_sc/Rdtase_SDR
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q7Z5P4

    ProtoNet protein and cluster: Q7Z5P4

    1 Blocks protein family: IPB002198 Short-chain dehydrogenase/reductase SDR

    UniProtKB/Swiss-Prot: DHB13_HUMAN, Q7Z5P4
    Similarity: Belongs to the short-chain dehydrogenases/reductases (SDR) family


    Function
    for HSD17B13 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Enzyme Number (IUBMB): EC 1.1.-.-1

    miRNA
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    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HSD17B13
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    Inhib. RNA
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    Gene Editing
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    Clone
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    Search LifeMap BioReagents cell lines for HSD17B13

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HSD17B13

    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003674molecular_function ND--
    GO:0016491oxidoreductase activity IEA--


    HSD17B13 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for HSD17B13:
     Increased HPV18 LCR reporter a 

    Animal Models:
         Mouse knock-out Hsd17b13tm1Lex for HSD17B13
         1 MGI phenotypic allele for Hsd17b13 (no phenotypes)

    HSD17B13 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for HSD17B13 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HSD17B13

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--


    HSD17B13 for ontologies           About GeneDecksing



    Drugs & Compounds
    for HSD17B13 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    HSD17B13 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HSD17B13
    10/44 Novoseek chemical compound relationships for HSD17B13 gene (see all 44)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    17beta-hydroxysteroid 98.6 252 8030703 (9), 8388710 (5), 8393406 (3), 10862262 (3) (see all 99)
    estrone 88.2 27 8388710 (4), 9361395 (2), 8380373 (1), 1309352 (1) (see all 22)
    3beta-hydroxysteroid 83.3 22 11375796 (2), 7892288 (1), 7747916 (1), 9059565 (1) (see all 21)
    androstenedione 82.8 17 2158194 (1), 7999680 (1), 11163318 (1), 9029727 (1) (see all 16)
    promegestone 80.7 2 10862262 (1), 7647331 (1)
    androstenediol 76.4 4 1390295 (1), 7821701 (1), 7546291 (1), 1314080 (1)
    androstanedione 75.8 1 1618995 (1)
    nomegestrol acetate 73.9 1 10862262 (1)
    testosterone 72.7 39 2158194 (2), 1618995 (2), 1325474 (1), 8380373 (1) (see all 28)
    estradiol 72.3 22 8380373 (1), 8388710 (1), 1309352 (1), 8125484 (1) (see all 21)

    Search CenterWatch for drugs/clinical trials and news about HSD17B13 / DHB13 

    Transcripts
    for HSD17B13 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for HSD17B13 gene (2 alternative transcripts): 
    NM_001136230.1  NM_178135.3  

    Unigene Cluster for HSD17B13:

    Hydroxysteroid (17-beta) dehydrogenase 13
    Hs.284414  [show with all ESTs]
    Unigene Representative Sequence: NM_178135
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000302219 ENST00000328546(uc003hqo.2 uc010ikk.2)

    miRNA
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    Inhib. RNA
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    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HSD17B13
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HSD17B13

    Additional cDNA sequence: 

    AB073347.1 AK292784.1 AY186249.1 AY186250.1 AY268355.1 AY358575.1 BC112303.1 BC112305.1 

    4 DOTS entries:

    DT.75124965  DT.97817522  DT.91690478  DT.100029823 

    24/289 AceView cDNA sequences (see all 289):

    CR590939 BQ270992 AW273624 BM843043 AI888053 CR607201 AA292418 AI193508 
    AA730743 CR602713 BU633600 AW470979 AA577610 AA576473 BQ025864 AI678575 
    AW337877 AA485827 AI685119 NM_178135 AB073347 AW193089 AY358575 AY186250 

    GeneLoc Exon Structure


    Expression
    for HSD17B13 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HSD17B13 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCTCTGCCCA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    HSD17B13 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LiverLiver LobulePeriportal HepatocytesLiver
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See HSD17B13 Protein Expression from SPIRE MOPED and PaxDB
    SOURCE GeneReport for Unigene cluster: Hs.284414

    UniProtKB/Swiss-Prot: DHB13_HUMAN, Q7Z5P4
    Tissue specificity: Highly expressed in the liver. Also detected in ovary, bone marrow, kidney, brain, lung, skeletal
    muscle, bladder and testis

        SABiosciences Custom PCR Arrays for HSD17B13
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HSD17B13

    Orthologs
    for HSD17B13 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for HSD17B13 gene from 4/18 species (see all 18)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves E1BS37_CHICK6
    F1NPQ5_CHICK6
    		 Uncharacterized protein
    		 59(a)
    58(a)
    		 many ↔ many
    many ↔ many
    		 4(47166857-47171962)
    4(47154286-47159609)
    lizard
    (Anolis carolinensis)    		 Reptilia --
    --
    (see all 4)    		 --
    		 66(a)
    59(a)
    (see all 4)    		 many ↔ many
    many ↔ many
    (see all 4)    		 5(45328317-45345268)
    5(45284574-45293148)
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG156296
    CG22546
    (see all 6)    		 --
    		 32(a)
    29(a)
    (see all 6)    		 many ↔ many
    possible ortholog
    (see all 6)    		 2L(4813009-4815891)
    X(7972382-7975635)
    worm
    (Caenorhabditis elegans)    		 Secernentea dhs-296
    		 DeHydrogenases, Short chain family member (dhs-29)...
    		 17(a)
    		 possible ortholog
    		 X(7661851-7664863)


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

    Paralogs
    for HSD17B13 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HSD17B13 gene
    RDH102  HSD17B112  DHRS32  SDR16C52  
    4 SIMAP similar genes for HSD17B13 using alignment to 1 protein entry:     DHB13_HUMAN:
    HSD17B11    SDR16C5    DHRS3    RDH10

    HSD17B13 for paralogs           About GeneDecksing



    Genomic Variants
    for HSD17B13 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for HSD17B13
         4 CNVs: 51479 30208 6291 36311
    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HSD17B13
    DNA2.0 Custom Variant and Variant Library Synthesis for HSD17B13

    Disorders / Diseases
    for HSD17B13 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    HSD17B13 for disorders           About GeneDecksing

    OMIM gene information: 612127    OMIM disorders: --

    20/36 diseases for HSD17B13 (see all 36):    About MalaCards
    17-beta hydroxysteroid dehydrogenase 3 deficiency    5-alpha reductase deficiency    creatine phosphokinase    hidradenitis suppurativa
    mucopolysaccharidosis iii    hidradenitis    benign meningioma    pseudohermaphroditism
    virilization    polycystic ovary syndrome    mucopolysaccharidosis    ductal carcinoma in situ
    sporadic breast cancer    meningioma    periostitis    endometrial carcinoma
    amenorrhea    endometrial cancer    choriocarcinoma    breast cancer

    10/16 Novoseek disease relationships for HSD17B13 gene (see all 16)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pseudohermaphroditism male 64.1 5 1325474 (2), 8393406 (2), 12797936 (1)
    virilization 57.5 5 9551369 (2), 9156049 (2), 9059565 (1)
    benign meningioma 48.4 2 7824086 (1), 8811669 (1)
    breast cancer 44.2 12 8380373 (2), 10862262 (2), 10226552 (2), 1728403 (1) (see all 9)
    choriocarcinoma 38.1 4 8005555 (2), 8030703 (2)
    breast carcinoma 32.8 3 8240985 (2), 8393337 (1)
    endometrial carcinoma 28.2 2 1325275 (1), 11096350 (1)
    prostate cancer 24.6 2 9256363 (2)
    benign prostatic hyperplasia 20.5 1 7490559 (1)
    mammary tumor 19.9 1 7749151 (1)


    Export disorders for HSD17B13 gene to outside databases

    Publications
    for HSD17B13 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for HSD17B13 gene, integrated from 9 sources (see all 173):
    (articles sorted by number of sources associating them with HSD17B13)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PubMed id 19027726)1, 3 Persson B.... Oppermann U. (2009)
    2. Molecular cloning and expression analysis of a new gene for short- chain dehydrogenase/reductase 9. (PubMed id 17311113)1, 2 Liu S.... Yu L. (2007)
    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. (PubMed id 15221005)1, 2 Yamada S....Nakagawara A. (2004)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    6. Genome-wide association study identifies loci influenc ing concentrations of liver enzymes in plasma. (PubMed id 22001757)1 Chambers J.C....Kooner J.S. (2011)
    7. New gene functions in megakaryopoiesis and platelet fo rmation. (PubMed id 22139419)1 Gieger C....Soranzo N. (2011)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    10. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)

    External Searches for HSD17B13 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing HSD17B13 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 345275 HGNC: 18685 AceView: DHRS8andSCDR9 Ensembl:ENSG00000170509 euGenes: HUgn345275
    ECgene: HSD17B13 H-InvDB: HSD17B13

    Other Databases showing HSD17B13 gene

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    Specialized Databases showing HSD17B13 gene

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    NameDescription
    PharmGKB entry for HSD17B13 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
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    		Patent Information for HSD17B13 gene:
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