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HSD17B12 Gene

protein-coding   GIFtS: 62
GCID: GC11P043577

Hydroxysteroid (17-Beta) Dehydrogenase 12

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Hydroxysteroid (17-Beta) Dehydrogenase 121 2     17beta-HSD Type 122
3-Ketoacyl-CoA Reductase1 2 3     SDR12C12
17-Beta-HSD 122 3     Estradiol 17-Beta-Dehydrogenase 122
17-Beta-Hydroxysteroid Dehydrogenase 122 3     Short Chain Dehydrogenase/Reductase Family 12C, Member 12
KAR2 3     Steroid Dehydrogenase Homolog2
Member 11     EC 1.1.1.623
Short Chain Dehydrogenase/Reductase Family 12C1     EC 1.3.1.-3

External Ids:    HGNC: 186461   Entrez Gene: 511442   Ensembl: ENSG000001490847   OMIM: 6095745   UniProtKB: Q53GQ03   

Export aliases for HSD17B12 gene to outside databases

Previous GC identifers: GC11M046055 GC11P044385 GC11P043741 GC11P043666 GC11P043658 GC11P043702 GC11P043412


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for HSD17B12 Gene:
This gene encodes a very important 17beta-hydroxysteroid dehydrogenase (17beta-HSD) that converts estrone into
estradiol in ovarian tissue. This enzyme is also involved in fatty acid elongation. (provided by RefSeq, Oct
2011)

GeneCards Summary for HSD17B12 Gene:
HSD17B12 (hydroxysteroid (17-beta) dehydrogenase 12) is a protein-coding gene. Diseases associated with HSD17B12 include pseudohermaphroditism, and polycystic kidney disease. GO annotations related to this gene include heparin binding and fibronectin binding. An important paralog of this gene is HSD17B3.

UniProtKB/Swiss-Prot: DHB12_HUMAN, Q53GQ0
Function: Catalyzes the transformation of estrone (E1) into estradiol (E2), suggesting a central role in estrogen
formation. Its strong expression in ovary and mammary gland suggest that it may constitute the major enzyme
responsible for the conversion of E1 to E2 in women. Also has 3-ketoacyl-CoA reductase activity, reducing both
long chain 3-ketoacyl-CoAs and long chain fatty acyl-CoAs, suggesting a role in long fatty acid elongation

Gene Wiki entry for HSD17B12 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000011.10  NC_018922.2  NT_009237.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the HSD17B12 gene promoter:
         STAT1   AML1a   Zic1   GCNF   GCNF-1   Lmo2   Nkx2-5   HNF-3beta   GCNF-2   YY1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): HSD17B12 promoter sequence
   Search Chromatin IP Primers for HSD17B12

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HSD17B12


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

Entrez Gene cytogenetic band: 11p11.2   Ensembl cytogenetic band:  11p11.2   HGNC cytogenetic band: 11q11

HSD17B12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HSD17B12 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P043577:  view genomic region     (about GC identifiers)

Start:
43,577,986 bp from pter      End:
43,878,169 bp from pter
Size:
300,184 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: DHB12_HUMAN, Q53GQ0 (See protein sequence)
Recommended Name: Estradiol 17-beta-dehydrogenase 12  
Size: 312 amino acids; 34324 Da
Subunit: Interacts with ELOVL1 and LASS2
Sequence caution: Sequence=AK027882; Type=Frameshift; Positions=92;
Secondary accessions: A8K9B0 D3DR23 Q96JU2 Q9Y6G8

Explore the universe of human proteins at neXtProt for HSD17B12: NX_Q53GQ0

Explore proteomics data for HSD17B12 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys86, Lys223, Lys244, Lys257, Lys261
  • Modification sites at PhosphoSitePlus

  • See HSD17B12 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_057226.1  
    ENSEMBL proteins: 
     ENSP00000436582   ENSP00000278353   ENSP00000379052  
    Reactome Protein details: Q53GQ0

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SDRC3: Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3

    4 InterPro protein domains:
     IPR020904 Sc_DH/Rdtase_CS
     IPR002347 Glc/ribitol_DH
     IPR002198 DH_sc/Rdtase_SDR
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q53GQ0

    ProtoNet protein and cluster: Q53GQ0

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

    UniProtKB/Swiss-Prot: DHB12_HUMAN, Q53GQ0
    Domain: The di-lysine motif confers endoplasmic reticulum localization for type I membrane proteins (By
    similarity)
    Similarity: Belongs to the short-chain dehydrogenases/reductases (SDR) family. 17-beta-HSD 3 subfamily


    HSD17B12 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DHB12_HUMAN, Q53GQ0
    Function: Catalyzes the transformation of estrone (E1) into estradiol (E2), suggesting a central role in estrogen
    formation. Its strong expression in ovary and mammary gland suggest that it may constitute the major enzyme
    responsible for the conversion of E1 to E2 in women. Also has 3-ketoacyl-CoA reductase activity, reducing both
    long chain 3-ketoacyl-CoAs and long chain fatty acyl-CoAs, suggesting a role in long fatty acid elongation
    Catalytic activity: 17-beta-estradiol + NAD(P)(+) = estrone + NAD(P)H
    Biophysicochemical properties: Kinetic parameters: KM=3.5 uM for estrone;

         Enzyme Numbers (IUBMB): EC 1.1.1.621 EC 1.3.1.-1

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001968fibronectin binding IEA--
    GO:0004303estradiol 17-beta-dehydrogenase activity IEA--
    GO:0005515protein binding IPI--
    GO:0005518collagen binding IEA--
    GO:0008201heparin binding IEA--
         
    HSD17B12 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for HSD17B12:
     Decreased Salmonella enterica   Decreased Salmonella-containin  Increased Salmonella enterica   Increased gamma-H2AX phosphory 

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Hsd17b12):
     cardiovascular system  cellular  embryogenesis  growth/size/body  mortality/aging 

    HSD17B12 for phenotypes           About GeneDecksing

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    4 qRT-PCR Assays for microRNAs that regulate HSD17B12:
    hsa-miR-587 hsa-miR-3919 hsa-miR-548s hsa-miR-1253
    SwitchGear 3'UTR luciferase reporter plasmidHSD17B12 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DHB12_HUMAN, Q53GQ0: Endoplasmic reticulum membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    cytosol2
    extracellular1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016021integral component of membrane IEA--
    GO:0031012extracellular matrix IEA--

    HSD17B12 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for HSD17B12 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    2Triglyceride Biosynthesis
    Triglyceride Biosynthesis
    Fatty Acyl-CoA Biosynthesis0.00
    Synthesis of very long-chain fatty acyl-CoAs0.00
    3Biosynthesis of unsaturated fatty acids
    Biosynthesis of unsaturated fatty acids0.38
    Fatty acid elongation0.38
    4Metabolism of steroid hormones and vitamin D
    Metabolism of steroid hormones and vitamin D
    Androgen biosynthesis0.00
    5Fatty acid, triacylglycerol, and ketone body metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism0.65

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2 Reactome Pathways for HSD17B12
        Androgen biosynthesis
    Synthesis of very long-chain fatty acyl-CoAs


    5 Kegg Pathways  (Kegg details for HSD17B12):
        Fatty acid elongation
    Steroid hormone biosynthesis
    Biosynthesis of unsaturated fatty acids
    Metabolic pathways
    Fatty acid metabolism

    UniProtKB/Swiss-Prot: DHB12_HUMAN, Q53GQ0
    Pathway: Steroid biosynthesis; estrogen biosynthesis
    Pathway: Lipid metabolism; fatty acid biosynthesis


    HSD17B12 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HSD17B12
    Interactions:

        Search GeneGlobe Interaction Network for HSD17B12

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for HSD17B12 (Q53GQ03 ENSP000002783534) via UniProtKB, MINT, STRING, and/or I2D (see all 195)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006633fatty acid biosynthetic process IEA--
    GO:0006703estrogen biosynthetic process IEA--
    GO:0008152metabolic process ----
    GO:0010811positive regulation of cell-substrate adhesion IEA--
    GO:0019432triglyceride biosynthetic process TAS--

    HSD17B12 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HSD17B12 (DHB12)

    6 HMDB Compounds for HSD17B12    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-Oxohexadecanoyl-CoA3-Ketopalmitoyl-CoA (see all 14)34619-89-1--
    3-Oxooctanoyl-CoA3-oxooctanoyl-coenzyme A (see all 8)54684-64-9--
    Acetoacetyl-CoA3-acetoacetyl-CoA (see all 9)1420-36-6--
    Estradiol(+)-3,17b-Estradiol (see all 83)50-28-2--
    Estrone(+)-Estrone (see all 7)53-16-7--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--

    8 Novoseek inferred chemical compound relationships for HSD17B12 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    11beta-hydroxysteroid 77.9 1 15356059 (1)
    steroid 71.1 30 9029722 (1), 11792704 (1), 8547173 (1), 9070888 (1) (see all 27)
    cortisone 47.9 1 15356059 (1)
    retinoid 34.4 1 16685466 (1)
    fatty acid 24 1 15977159 (1)
    testosterone 14.5 1 8032161 (1)
    serine 13.8 1 8032161 (1)
    glutamate 0 1 10651042 (1)



    HSD17B12 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for HSD17B12 gene: 
    NM_016142.2  

    Unigene Cluster for HSD17B12:

    Hydroxysteroid (17-beta) dehydrogenase 12
    Hs.132513  [show with all ESTs]
    Unigene Representative Sequence: BX537496
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000526615 ENST00000532864 ENST00000533358 ENST00000529261 ENST00000532989
    ENST00000527433 ENST00000531185 ENST00000278353(uc001mxq.4) ENST00000395700(uc001mxp.2)
    ENST00000527213 ENST00000532178 ENST00000533090 ENST00000533802 ENST00000534053
    ENST00000525736
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    Additional mRNA sequence: 

    AF078850.1 AK027882.1 AK074952.1 AK075011.1 AK075216.1 AK092938.1 AK095484.1 AK222881.1 
    AK292625.1 AK301663.1 BC012043.1 BC012536.1 BX537496.1 

    20 DOTS entries:

    DT.95246970  DT.455120  DT.95151305  DT.100029315  DT.95151304  DT.40129348  DT.95258357  DT.91764315 
    DT.100826165  DT.100826167  DT.120739813  DT.120739823  DT.100029316  DT.120739721  DT.120739742  DT.75195864 
    DT.99942291  DT.100009452  DT.40312804  DT.75178659 

    Selected AceView cDNA sequences (see all 228):

    Z38717 AA442125 BM982441 BQ008216 AA714014 AW189207 BM661848 AA609829 
    CB159958 AI745688 BF115149 BU733451 BQ100998 CB131613 AK074952 BM984826 
    AA554278 AA429830 AA969821 AA551127 AI765517 AI745679 BU570561 BX111642 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for HSD17B12    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12
    SP1:                          -                 -     -                             -                                 
    SP2:                          -                 -     -                                                               
    SP3:                          -                 -                                                                     
    SP4:                                                                                                                  
    SP5:                                                                                                                  


    ECgene alternative splicing isoforms for HSD17B12

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    HSD17B12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTATACAACA
    HSD17B12 Expression
    About this image


    HSD17B12 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 15) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Kidney (Urinary System)
             Metanephros
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    HSD17B12 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HSD17B12 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.132513

    UniProtKB/Swiss-Prot: DHB12_HUMAN, Q53GQ0
    Tissue specificity: Expressed in most tissues tested. Highly expressed in the ovary and mammary. Expressed in
    platelets

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    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for HSD17B12 gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hsd17b121 , 5 hydroxysteroid (17-beta) dehydrogenase 121, 5 84.29(n)1
    81.09(a)1
      2 (51.62 cM)5
    563481  NM_019657.41  NP_062631.11 
     940326895 
    chicken
    (Gallus gallus)
    Aves HSD17B121 hydroxysteroid (17-beta) dehydrogenase 12 72.67(n)
    69.35(a)
      769787  XM_003641343.2  XP_003641391.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 4)
    Uncharacterized protein
    (see all 4)
    56(a)
    53(a)
    (see all 4)
    1 ↔ many
    1 ↔ many
    (see all 4)
    1(45190991-45263121)
    1(45373842-45401947)
    African clawed frog
    (Xenopus laevis)
    Amphibia let-767co-prov2 hydroxysteroid (17-beta) dehydrogenase 12 73.44(n)    BC041194.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC048053.12   -- 74.03(n)   327417  BC048053.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG14441 , 3 steroid dehydrogenase3
    CG14441
    54(a)
    (best of 3)3
    53.23(n)1
    51.33(a)1
      7C23
    317031  NM_132192.21  NP_572420.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F25G6.53
    let-7671
    dehydrogenase3
    let-7671
    37(a)
    (best of 5)3
    48.62(n)1
    43.45(a)1
      V(8552415-8554021)3
    1758951  NM_001268006.11  NP_001254935.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes IFA38(YBR159W)4
    IFA381
    Microsomal beta-keto-reductase; contains oleate response more4
    IFA381
    47.2(n)1
    35.57(a)1
      2(558685-559728)4
    8524561, 4  NP_009717.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons KCR11 KCR1 53.36(n)
    44.54(a)
      843098  NM_105441.2  NP_564905.1 
    rice
    (Oryza sativa)
    Liliopsida Os04g04835001 Os04g0483500 49.17(n)
    44.44(a)
      4336202  NM_001059660.1  NP_001053125.1 


    ENSEMBL Gene Tree for HSD17B12 (if available)
    TreeFam Gene Tree for HSD17B12 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HSD17B12 gene
    HSD17B32  HSDL12  
    4 SIMAP similar genes for HSD17B12 using alignment to 4 protein entries:     DHB12_HUMAN (see all proteins):
    PECR    HSDL1    DHRSX    HSD17B3

    HSD17B12 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for HSD17B12
    PGOHUM00000247462 PGOHUM00000243427


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for HSD17B12 (see all 3066)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs593259741,2
    C--43655893(+) CTCTC-/TC    
       
    /TCCT
    CTCTT
    1 -- int11NA 2
    rs64854441,2
    C,A--43700194(+) agcttT/Cctaca 1 -- us2k11Minor allele frequency- C:0.00NA 2
    rs47557331,2
    C--43700529(+) agtcaC/Ttggta 1 -- us2k13Minor allele frequency- T:0.00NA 6
    rs1408899901,2
    --43700564(+) TATACA/TTTACC 1 -- us2k10--------
    rs1882580821,2
    --43700592(+) TTTCAC/TGATAT 1 -- us2k10--------
    rs1903677581,2
    --43700598(+) GATATC/TGATTC 1 -- us2k10--------
    rs1822486411,2
    --43700707(+) TCCCTG/TGTAAG 1 -- us2k10--------
    rs123636671,2
    C,F,H--43700810(+) AGAATG/ACCTGT 1 -- us2k115Minor allele frequency- A:0.08NS EA NA CSA 1966
    rs1866612011,2
    --43700949(+) AGGCAC/GTCAAA 1 -- us2k10--------
    rs123640031,2
    C,F,H--43701108(+) CTGGAC/GTTCAC 1 -- us2k18Minor allele frequency- G:0.09NS EA CSA WA NA 780

    HapMap Linkage Disequilibrium report for HSD17B12 (43577986 - 43827986 bp, first 250kb of HSD17B12)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for HSD17B12:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2744410CNV Deletion23290073
    esv2672818CNV Deletion23128226
    esv267920CNV Insertion20981092
    nsv7755CNV Insertion18451855
    nsv7754CNV Insertion18451855
    nsv897302CNV Loss21882294
    nsv528546CNV Loss19592680
    nsv832138CNV Gain17160897
    nsv832136CNV Gain+Loss17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HSD17B12
    DNA2.0 Custom Variant and Variant Library Synthesis for HSD17B12

    (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.)
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    OMIM gene information: 609574    OMIM disorders: --

    14 diseases for HSD17B12:    
    About MalaCards
    pseudohermaphroditism    polycystic kidney disease    kidney disease    narcolepsy
    hypertension    tonsillitis    tuberculosis    ovarian cancer
    neuroblastoma    endotheliitis    thyroiditis    breast cancer
    cerebritis    malaria


    HSD17B12 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for HSD17B12 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    polycystic kidney diseases 44.8 1 16467263 (1)
    cancer 0 1 9029722 (1)

    Genetic Association Database (GAD): HSD17B12
    Human Genome Epidemiology (HuGE) Navigator: HSD17B12 (3 documents)

    Export disorders for HSD17B12 gene to outside databases

    (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)
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    PubMed articles for HSD17B12 gene, integrated from 10 sources (see all 72):
    (articles sorted by number of sources associating them with HSD17B12)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of two mammalian reductases involved in the two-carbon fatty acyl elongation cascade. (PubMed id 12482854)1, 2, 3 Moon Y.-A. and Horton J.D. (J. Biol. Chem. 2003)
    2. ELOVL1 production of C24 acyl-CoAs is linked to C24 sphingolipid synthesis. (PubMed id 20937905)1, 2 Ohno Y.... Kihara A. (Proc. Natl. Acad. Sci. U.S.A. 2010)
    3. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PubMed id 20677014)1, 4 Shimada M....Tokunaga K. (Hum. Genet. 2010)
    4. Analysis of 17beta-hydroxysteroid dehydrogenase types 5, 7, and 12 genetic sequence variants in breast cancer cases from French Canadian Families with high risk of breast and ovarian cancer. (PubMed id 19460435)1, 4 Plourde M....Simard J. (J. Steroid Biochem. Mol. Biol. 2009)
    5. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PubMed id 19027726)1, 3 Persson B.... Oppermann U. (Chem. Biol. Interact. 2009)
    6. Characterization of type 12 17beta-hydroxysteroid dehydrogenase, an isoform of type 3 17beta-hydroxysteroid dehydrogenase responsible for estradiol formation in women. (PubMed id 16166196)1, 2 Luu-The V.... Labrie F. (Mol. Endocrinol. 2006)
    7. Platelets express steroidogenic 17beta-hydroxysteroid dehydrogenases. Distinct profiles predict the essential thrombocythemic phenotype. (PubMed id 16113833)1, 2 Gnatenko D.V....Bahou W.F. (Thromb. Haemost. 2005)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. 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. (Genome Res. 2004)
    10. Drafting the CLN3 protein interactome in SH-SY5Y human neuroblastoma cells: a label-free quantitative proteomics approach. (PubMed id 23464991)1 Scifo E....Lalowski M. (J. Proteome Res. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 51144 HGNC: 18646 AceView: HSD17B12 Ensembl:ENSG00000149084 euGenes: HUgn51144
    ECgene: HSD17B12 Kegg: 51144 H-InvDB: HSD17B12

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for HSD17B12 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for HSD17B12 gene:
    Search GeneIP for patents involving HSD17B12

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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