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

HSD17B12 Gene

protein-coding   GIFtS: 59
GCID: GC11P043577

hydroxysteroid (17-beta) dehydrogenase 12
 Explore 15 diseases affiliated with
HSD17B12 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for HSD17B12    

Aliases
for HSD17B12 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 121 2     17beta-HSD Type 122
KAR1 2 3     Estradiol 17-Beta-Dehydrogenase 122
SDR12C11 2     Short Chain Dehydrogenase/Reductase Family 12C, Member 12
17-Beta-HSD 122 3     Steroid Dehydrogenase Homolog2
17-Beta-Hydroxysteroid Dehydrogenase 122 3     EC 1.1.1.623
3-Ketoacyl-CoA Reductase2 3     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


Summaries
for HSD17B12 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for HSD17B12:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_009237.18  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for HSD17B12

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for HSD17B12 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: 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
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q53GQ0

    • HSD17B12 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_057226.1  
    ENSEMBL proteins: 
     ENSP00000436582   ENSP00000278353   ENSP00000379052  
    Reactome Protein details: Q53GQ0
    Human Recombinant Protein Products: 
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    Browse Proteins at Uscn

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

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


    HSD17B12 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for HSD17B12 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HSD17B12 for domains           About GeneDecksing

    4 InterPro domains/families:
     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 family: 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


    Function
    for HSD17B12 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
    Function Summary:

         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
    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

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmid: HSD17B12 3' UTR sequence
    Inhib. RNA
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0001968fibronectin binding IEA--
    GO:0004303estradiol 17-beta-dehydrogenase activity IEA--
    GO:0005515protein binding IPI--
    GO:0005518collagen binding IEA--


    HSD17B12 for ontologies           About GeneDecksing


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

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

    HSD17B12 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for HSD17B12 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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    		Metabolic pathways0.38
    2Fatty Acyl-CoA Biosynthesis
    		Fatty Acyl-CoA Biosynthesis1.00
    		Triglyceride Biosynthesis0.47
    		Synthesis of very long-chain fatty acyl-CoAs0.78
    3Biosynthesis of unsaturated fatty acids
    		Biosynthesis of unsaturated fatty acids1.00
    4Steroid hormone biosynthesis
    		Steroid hormone biosynthesis1.00
    5Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
    		Fatty acid, triacylglycerol, and ketone body metabolism0.52

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/6        Reactome Pathways for HSD17B12 (see all 6)
        Metabolism
    Synthesis of very long-chain fatty acyl-CoAs
    Triglyceride Biosynthesis
    Fatty Acyl-CoA Biosynthesis
    Fatty acid, triacylglycerol, and ketone body metabolism


    3         Kegg Pathways  (Kegg details for HSD17B12):
        Steroid hormone biosynthesis
    Biosynthesis of unsaturated fatty acids
    Metabolic pathways

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


    HSD17B12 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HSD17B12

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

    5/132 Interacting proteins for HSD17B12 (Q53GQ03 ENSP000002783534) via UniProtKB, MINT, STRING, and/or I2D (see all 132)

    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): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006633fatty acid biosynthetic process IEA--
    GO:0006703estrogen biosynthetic process IEA--
    GO:0010811positive regulation of cell-substrate adhesion IEA--
    GO:0019432triglyceride biosynthetic process TAS--
    GO:0030198extracellular matrix organization IEA--


    HSD17B12 for ontologies           About GeneDecksing



    Drugs & Compounds
    for HSD17B12 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

    HSD17B12 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for HSD17B12

    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 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)

    Search CenterWatch for drugs/clinical trials and news about HSD17B12 / DHB12 

    Transcripts
    for HSD17B12 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 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

    miRNA
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    Inhib. RNA
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    Additional cDNA 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 

    22 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.100826175  DT.120739721  DT.120739742 
    DT.75195864  DT.91764308  DT.99942291  DT.100009452  DT.40312804  DT.75178659 

    24/228 AceView cDNA sequences (see all 228):

    CB141480 AI554270 BM709479 BG288319 AI824194 AW027973 CA775758 AA946996 
    Z42525 AI479243 BM980884 BU625355 CA946725 AA446257 BQ776188 AI341421 
    AI659901 AA856798 AI651144 AA551069 AI609235 BX111642 BU570561 AI672100 

    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

    Expression
    for HSD17B12 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

    HSD17B12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTATACAACA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See HSD17B12 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HSD17B12

    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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    In Situ
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    Orthologs
    for HSD17B12 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 eukaryotes.

    Orthologs for HSD17B12 gene from 9/32 species (see all 32)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves HSD17B121 hydroxysteroid (17-beta) dehydrogenase 12 73(n)
    70.16(a)    		   769787  XM_003641343.1  XP_003641391.1 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    --
    (see all 3)    		 --
    		 53(a)
    52(a)
    (see all 3)    		 1 ↔ many
    1 ↔ many
    (see all 3)    		 1(45377478-45401947)
    1(45406716-45426379)
    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
    55.41(n)1
    54.7(a)1    		   7C23
    317031  NM_132192.21  NP_572420.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea F25G6.53
    let-7671    		 dehydrogenase3
    Protein LET-7671    		 37(a)
    (best of 5)3
    48.62(n)1
    43.45(a)1    		   V(8552415-8554021)3
    1758951  NM_065985.51  NP_498386.21 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes IFA38(YBR159W)4
    IFA381    		 Microsomal beta-keto-reductase; contains oleate response more4
    Ifa38p1    		 47.32(n)1
    35.57(a)1    		   2(558685-559728)4
    8524561, 4  NP_009717.11, 4 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons KCR11 beta-ketoacyl reductase 1 52.3(n)
    43.1(a)    		   843098  NM_105441.2  NP_564905.1 
    rice
    (Oryza sativa)    		 Liliopsida Os04g04835001 hypothetical protein 49.29(n)
    45.14(a)    		   4336202  NM_001059660.1  NP_001053125.1 


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

    Paralogs
    for HSD17B12 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    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


    Genomic Variants
    for HSD17B12 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

    10/2668 NCBI SNPs in HSD17B12 are shown (see all 2668)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 11 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    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
    rs1915136761,2
    		--43701430(+) AACCCA/GGGCGA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for HSD17B12 (43577986 - 43827986 bp, first 250kb of HSD17B12)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for HSD17B12
         1 CNV: 4740

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    Disorders / Diseases
    for HSD17B12 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
    HSD17B12 for disorders           About GeneDecksing

    OMIM gene information: 609574    OMIM disorders: --

    15 diseases for HSD17B12:    About MalaCards
    polycystic kidney disease    kidney disease    breast-ovarian cancer    pseudohermaphroditism
    ovarian cancer    breast carcinoma    breast cancer    hypertension
    cholesterol    tuberculosis    carcinoma    malaria
    neuronitis    alcoholism    mycobacterium tuberculosis

    2 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: HSD17B12 (3 documents)

    Export disorders for HSD17B12 gene to outside databases

    Publications
    for HSD17B12 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 HSD17B12 gene, integrated from 9 sources (see all 60):
    (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. (2003)
    2. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PubMed id 19027726)1, 3 Persson B.... Oppermann U. (2009)
    3. 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. (2006)
    4. Platelets express steroidogenic 17beta-hydroxysteroid dehydrogenases. Distinct profiles predict the essential thrombocythemic phenotype. (PubMed id 16113833)1, 2 Gnatenko D.V....Bahou W.F. (2005)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. 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)
    7. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (2012)
    8. Global landscape of HIV-human protein complexes. (PubMed id 22190034)1 Jager S....Krogan N.J. (2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    10. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)

    External Searches for HSD17B12 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    OMIM
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    Genome Databases showing HSD17B12 gene

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

    Other Databases showing HSD17B12 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing HSD17B12 gene

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

    Intellectual Property
    for HSD17B12 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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