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HSD17B6 Gene

protein-coding   GIFtS: 52

GC12P054196
hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse)
(Previous name: hydroxysteroid (17-beta) dehydrogenase 6 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Products    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases & Descriptions
hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse)1 2     retinol dehydrogenase2
RODH1 2 3     short chain dehydrogenase/reductase family 9C, member 62
HSE1 2 5     3-hydroxysteroid epimerase2
SDR9C61 2     oxidative 3-alpha-hydroxysteroid-dehydrogenase2
Oxidative 3-alpha hydroxysteroid dehydrogenase2 3     NAD+ -dependent 3 alpha-hydroxysteroid dehydrogenase 3-hydroxysteroid epimerase2
3-alpha->beta-hydroxysteroid epimerase2 3     3(alpha->beta)-hydroxysteroid epimerasel2
3-alpha->beta-HSE2 3     3(alpha->beta)-hydroxysteroid epimerase2
17-beta-HSD62 3     oxidoreductase2
17-beta-HSD 62 3     EC 1.1.1.633
hydroxysteroid (17-beta) dehydrogenase 61     EC 1.1.1.623
17-beta-hydroxysteroid dehydrogenase type 62     EC 1.1.1.1053

External Ids:    HGNC: 233161   Entrez Gene: 86302   Ensembl: ENSG000000254237   UniProtKB: O147563   

Export aliases for HSD17B6 gene to outside databases

Previous GC identifers: GC12P055444 GC12P057157


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

Entrez Gene summary for HSD17B6:
The protein encoded by this gene has both oxidoreductase and epimerase activities and is involved in androgen
catabolism. The oxidoreductase activity can convert 3 alpha-adiol to dihydrotestosterone, while the epimerase activity
can convert androsterone to epi-androsterone. Both reactions use NAD+ as the preferred cofactor. This gene is a member
of the retinol dehydrogenase family. Transcript variants utilizing alternative polyadenylation signals exist.
(provided by RefSeq)

UniProtKB/Swiss-Prot: H17B6_HUMAN, O14756
Function: NAD-dependent oxidoreductase with broad substrate specificity that shows both oxidative and reductive
activity (in vitro). Has 17-beta-hydroxysteroid dehydrogenase activity towards various steroids (in vitro). Converts
5-alpha-androstan-3-alpha,17-beta-diol to androsterone and estradiol to estrone (in vitro). Has 3-alpha-hydroxysteroid
dehydrogenase activity towards androsterone (in vitro). Has retinol dehydrogenase activity towards all-trans-retinol
(in vitro). Can convert androsterone to epi-androsterone. Androsterone is first oxidized to
5-alpha-androstane-3,17-dione and then reduced to epi-andosterone. Can act on both C-19 and C-21
3-alpha-hydroxysteroids

Gene Wiki entry for HSD17B6

(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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HSD17B6 gene promoter:
         AP-1   HSF1 (long)   p53   HSF2   NF-kappaB   NF-kappaB1   c-Fos   c-Jun   STAT3   GR-alpha   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for HSD17B6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 


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

Entrez Gene cytogenetic band: 12q13   Ensembl cytogenetic band:  12q13.3   HGNC cytogenetic band: 12q13

HSD17B6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HSD17B6 gene location

GeneLoc gene densities for chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P054196:  view genomic region     (about GC identifiers)

Start:
54,196,177 bp from pter
End:
54,220,440 bp from pter
Size:
24,264 bases
Orientation:
plus strand

1 alternative location:
Chr12+ 57,157,108-57,181,574     
RefSeq DNA sequence:
NC_000012.11  NT_029419.12  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: H17B6_HUMAN, O14756 (See protein sequence)
Recommended Name: 17-beta-hydroxysteroid dehydrogenase type 6 precursor  
Size: 317 amino acids; 35966 Da
Subcellular location: Microsome membrane; Peripheral membrane protein; Lumenal side. Early endosome membrane;
Peripheral membrane protein; Lumenal side (Potential)
Sequence caution: Sequence=AAB88252.1; Type=Frameshift; Positions=158, 174;
Secondary accessions: O43275

Explore the universe of human proteins at neXtProt for HSD17B6: NX_O14756 

REFSEQ proteins: NP_003716.2  

ENSEMBL proteins: 
ENSP00000318631 ENSP00000262028 


Human Recombinant Proteins 
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
OriGene Purified Protein: HSD17B6
OriGene Protein Over-expression Lysate: HSD17B6
GenScript Custom Purified and Recombinant Proteins Services for HSD17B6 
Novus Biologicals Proteins for HSD17B6
Novus Biologicals Lysates for HSD17B6
Browse Sino Biological Recombinant Proteins
Browse ProSpec Recombinant Proteins

5/6 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 6):

GO IDQualified GO termEvidencePubMed IDs
GO:0005622 intracellular NAS11513953
GO:0005768 endosome IEA--
GO:0005783 endoplasmic reticulum IEA--
GO:0005792 microsome IEA--
GO:0016020 membrane IEA--
About this table

HSD17B6 for ontologies           About GeneDecksing



Antibodies for HSD17B6: 
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for HSD17B6
Browse R&D Systems for Antibodies
Browse OriGene Antibodies
GenScript Custom Superior Antibodies Services for HSD17B6 
Novus Biologicals Antibodies for HSD17B6
Epitomics antibodies for HSD17B6

Assays for HSD17B6: 
Browse Kits and Assays available from Millipore
Browse ELISAs at Sigma-Aldrich
OriGene Custom Immunoassay Development 
Browse OriGene Fluorogenic Cell Assay Kits 
Browse R&D Systems for biochemical assays
GenScript Custom Assay Services for HSD17B6 
Browse Enzo Life Sciences for kits & assays
Browse ELISAs and CLIAs at Uscn 


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

HSD17B6 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 O14756

ProtoNet protein and cluster: O14756

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

UniProtKB/Swiss-Prot: H17B6_HUMAN, O14756
Similarity: Belongs to the short-chain dehydrogenases/reductases (SDR) family


(According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
About This Section

UniProtKB/Swiss-Prot: H17B6_HUMAN, O14756
Function: NAD-dependent oxidoreductase with broad substrate specificity that shows both oxidative and reductive
activity (in vitro). Has 17-beta-hydroxysteroid dehydrogenase activity towards various steroids (in vitro). Converts
5-alpha-androstan-3-alpha,17-beta-diol to androsterone and estradiol to estrone (in vitro). Has 3-alpha-hydroxysteroid
dehydrogenase activity towards androsterone (in vitro). Has retinol dehydrogenase activity towards all-trans-retinol
(in vitro). Can convert androsterone to epi-androsterone. Androsterone is first oxidized to
5-alpha-androstane-3,17-dione and then reduced to epi-andosterone. Can act on both C-19 and C-21
3-alpha-hydroxysteroids
Catalytic activity: Estradiol-17-beta + NAD(P)(+) = estrone + NAD(P)H
Catalytic activity: Testosterone + NAD(+) = androst-4-ene-3,17-dione + NADH
Catalytic activity: Retinol + NAD(+) = retinal + NADH
Biophysicochemical properties: Kinetic parameters: KM=0.19 uM for NAD; KM=0.18 uM for NADH; KM=54 uM for NADPH; KM=940
uM for NADP; KM=3.2 uM for all-trans-retinol; KM=0.24 uM for allopregnanolone; KM=0.13 uM for 3-alpha-androstanediol;
KM=0.23 uM for androsterone; KM=0.13 uM for dehydroepiandrosterone; Vmax=1.2 nmol/min/mg enzyme with
all-trans-retinol; Vmax=14.7 nmol/min/mg enzyme with allopregnanolone; Vmax=16.5 nmol/min/mg enzyme with
3-alpha-androstanediol; Vmax=35 nmol/min/mg enzyme with androsterone; Vmax=0.90 nmol/min/mg enzyme with
dehydroepiandrosterone; Note=the kinetic parameters were determined using microsomes from transfected cells;
Enzyme Numbers (IUBMB): EC 1.1.1.105  EC 1.1.1.62  EC 1.1.1.63 

Inhib.
RNA:
    
Browse for Gene Knock-down Tools from Millipore
Browse Nano Scale siRNA at Sigma-Aldrich
Sigma-Aldrich siRNA Panels and esiRNA and siRNA for HSD17B6
Sigma-Aldrich shRNA for HSD17B6
OriGene 29mer shRNA kits in GFP-retroviral vector: HSD17B6
OriGene shRNA RFP: HSD17B6
OriGene basic RS shRNA: HSD17B6
OriGene siRNA: HSD17B6
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of HSD17B6 
miRNA:Browse microRNA Mimics at Sigma-Aldrich
Browse microRNA target validation systems at Sigma-Aldrich 
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of HSD17B6 
Search SABiosciences for Assays for microRNAs that regulate HSD17B6

Gene
Editing:
Browse CompoZr Knockout ZFN at Sigma-Aldrich 

Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
Browse iPSC Reprogramming Factors at Sigma-Aldrich
OriGene GFP tagged cDNA clones in CMV expression vector: HSD17B6
OriGene Myc/DDK tagged cDNA clones in CMV expression vector: HSD17B6
OriGene untagged cDNA clones in CMV expression vector (see all 2): HSD17B6
OriGene 3'-UTR clone: HSD17B6 
Browse MicroRNA Expression Plasmids 
GenScript cDNA clone with any tag delivered in your preferred vector: HSD17B6 
Browse Sino Biological Human cDNA Clones

Cell
Lines:
  
GenScript Custom overexpressing Cell Line Services for HSD17B6 

5/7 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 7):

GO IDQualified GO termEvidencePubMed IDs
GO:0003824 catalytic activity TAS9188497
GO:0004303 estradiol 17-beta-dehydrogenase activity IEA--
GO:0004745 retinol dehydrogenase activity IEA--
GO:0005488 binding IEA--
GO:0009055 electron carrier activity TAS9188497
About this table

HSD17B6 for ontologies           About GeneDecksing


(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
About This Section


HSD17B6 for pathways           About GeneDecksing

1 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathway for  HSD17B6
    Androgen and Estrogen Metabolism

2 Kegg Pathways  (Kegg details for HSD17B6):
    hsa00140 Steroid hormone biosynthesis
hsa01100 Metabolic pathways

    SABiosciences Custom Pathway-Focused PCR Arrays for HSD17B6 

    Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for HSD17B6
    SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HSD17B6

5 Gene Ontology (GO) biological process terms (GO ID links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0006702 androgen biosynthetic process NAS9188497
GO:0006710 androgen catabolic process TAS9188497
GO:0008152 metabolic process ----
GO:0008202 steroid metabolic process IEA--
GO:0055114 oxidation-reduction process IEA--
About this table

HSD17B6 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

HSD17B6 for compounds           About GeneDecksing

Browse Small Molecules at Sigma-Aldrich
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for HSD17B6
3 Novoseek chemical compound relationships for HSD17B6 gene
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
5alpha-androstane-3alpha,17beta-diol 81.8 1 17223255 (1)
dihydrotestosterone 64.7 2 17223255 (1), 9188497 (1)
vitamin a 52.7 1 9677409 (1)
About this table



(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore,
siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
About This Section

Inhib.
RNA:
     
Browse for Gene Knock-down Tools from Millipore
Browse Nano Scale siRNA at Sigma-Aldrich
Sigma-Aldrich siRNA Panels and esiRNA and siRNA for HSD17B6
Sigma-Aldrich shRNA for HSD17B6
OriGene 29mer shRNA kits in GFP-retroviral vector: HSD17B6
OriGene shRNA RFP: HSD17B6
OriGene basic RS shRNA: HSD17B6
OriGene siRNA: HSD17B6
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of HSD17B6 
miRNA: Browse microRNA Mimics at Sigma-Aldrich
Browse microRNA target validation systems at Sigma-Aldrich 
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of HSD17B6 
Search SABiosciences for Assays for microRNAs that regulate HSD17B6
Clones: Browse FLAG tag genes at Sigma-Aldrich
OriGene GFP tagged cDNA clones in CMV expression vector: HSD17B6
OriGene Myc/DDK tagged cDNA clones in CMV expression vector: HSD17B6
OriGene untagged cDNA clones in CMV expression vector (see all 2): HSD17B6
OriGene 3'-UTR Clone: HSD17B6 
Browse OriGene MicroRNA Expression Plasmids 
GenScript cDNA clone with any tag delivered in your preferred vector: HSD17B6 
Primers: OriGene genome-wide validated SYBR primer pairs: HSD17B6
Browse OriGene validated miRNA SYBR primer pairs 
SABiosciences RT2 qPCR Primer Assay for HSD17B6: PPH07817A

REFSEQ mRNAs for HSD17B6 gene: 

NM_003725.2  

Additional cDNA sequence: 

AF016509.1 AF223225.1 AK313423.1 BC020710.1 U89281.1 

13 DOTS entries:

DT.112239  DT.91751197  DT.95163537  DT.121209210  DT.121209224  DT.121209205  DT.95163540  DT.121209274 
DT.121209293  DT.40307845  DT.91751202  DT.121209263  DT.121209277 

11 AceView cDNA sequences:

AA317665 CB162089 CD248621 AV658227 AV683846 AU133812 AV660232 AV659731 
AV691524 AV683719 AV653177 

highest scoring ESTs for HSD17B6:

U89281 AA034944 AA034945 AA737280 AA934892 AA994186 AF016509 AF223225 AI087093 AI127797 

Unigene Cluster for HSD17B6:

Hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse)
Hs.524513  [show with all ESTs]
Unigene Representative Sequence: NM_003725


GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for HSD17B6 (see all 8)

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

About this scheme

ECgene alternative splicing isoforms for HSD17B6
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000322165(uc001smg.1) ENST00000262028

(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Primers from OriGene and/or SABiosciences )
About This Section

HSD17B6 expression in normal and diseased human tissues

1  / 2  / 3

5 probe-sets matching HSD17B6 gene

Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
37512_at2, 3 U133-A 1 0.81 1.00 1.00 1.00 U89281 1.00 1.00 1.00 1
205700_at2, 3 U133-A 1 0.91 1.00 -- -- NM_003725 0.60 1.00 0.82 1
37512_at2, 3 U133-A 1 0.81 1.00 -- -- U89281 1.00 1.00 1.00 1
205700_at2 U133Plus2 1 0.91 1.00 -- -- -- -- -- -- --
37512_at2 U133Plus2 1 0.81 1.00 -- -- -- -- -- -- --
About this table

HSD17B6 for expression           About GeneDecksing

Data from Genenote  (Publications) and GNF BioGPS
    About these images
HSD17B6 gene expression
HSD17B6 gene electronic northern expression
HSD17B6 gene sage expression
About these images

CGAP SAGE TAG: TTTATATTTC

SOURCE GeneReport for Unigene cluster: Hs.524513

Expression variation in blood from EXPOLDB for HSD17B6

UniProtKB/Swiss-Prot: H17B6_HUMAN, O14756
Tissue specificity: Detected in liver and prostate (at protein level). Detected in adult liver, lung, brain, placenta,
prostate, adrenal gland, testis, mammary gland, spleen, spinal cord and uterus. Detected in caudate nucleus, and at
lower levels in amygdala, corpus callosum, hippocampus, substantia nigra and thalamus. Detected in fetal lung, liver
and brain

Primers: OriGene genome-wide validated SYBR primer pairs: HSD17B6
Browse OriGene validated miRNA SYBR primer pairs 
SABiosciences RT2 qPCR Primer Assay for HSD17B6: PPH07817A
    SABiosciences Custom PCR Arrays for HSD17B6 


(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for HSD17B6 gene from 5/7 species (see all 7)
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
HSD17B61   -- hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse) 85.38(n)
80.44(a)
481118  XM_538239.2  XP_538239.2 
cow
(Bos taurus)
HSD17B61   -- hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse) 85.38(n)
79.5(a)
533086  NM_001035395.1  NP_001030472.1 
rat
(Rattus norvegicus)
Hsd17b61   -- hydroxysteroid (17-beta) dehydrogenase 6 77.39(n)
71.29(a)
286964  NM_173305.1  NP_775427.1 
mouse
(Mus musculus)
Hsd17b61 , 5 10 (76.39 cM)5
hydroxysteroid (17-beta) dehydrogenase 61, 5 77.95(n)1
73.42(a)1
274001  NM_013786.21  NP_038814.11 
 AA2391895  AA2392495  (see all 11)
zebrafish
(Danio rerio)
BC046089.12   --   -- 71.69(n) 378440  BC046089.1 
About this table        Species with no ortholog for HSD17B6

ENSEMBL Gene Tree for HSD17B6 (if available)

(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
Paralogs for HSD17B6 gene
BDH12  SDR9C72  RDH162  DHRS92  RDH52  

HSD17B6 for paralogs           About GeneDecksing



(SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section

10/199 NCBI SNPs in HSD17B6 are shown (see all 199)
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidChr 12 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
----------
rs8986111,2
C,F,O,A,57163316(+) AGGCTC/TGACCT 1 -- int126Minor allele frequency- N:0.00MN NS EA NA WA 1882
rs23716281,2
C,A57178329(+) GGTGGC/TGCATG 1 -- int13Minor allele frequency- T:0.00EA NS 290
rs38166161,2
C,57176089(+) TTTCGC/GCTATC 1 -- int13Minor allele frequency- G:0.11NA EA 162
rs42771481,2
C,F,A,57180855(+) ATGATC/TTTAAA 1 -- int18Minor allele frequency- T:0.23NS EA NA WA 624
rs47592561,2
C,F,H57155256(+) ggaggC/Aagagg 1 -- ng51 trp310Minor allele frequency- A:0.01NS EA NA WA 306
rs57983941,2
C57163666(+) TCTTC-/TTTGCT 1 -- int10--------
rs57983951,2
C57163668(+) TTCTTT/-GCTGC 1 -- int11Minor allele frequency- -:0.50NA 2
rs72958621,2
C,F,A,H,57169158(+) caccaT/Cgcctg 1 -- int19Minor allele frequency- C:0.34NS EA NA WA 532
rs79676001,2
C,F,A,57161992(+) AAAGAG/ATGTGC 1 -- int1 trp315Minor allele frequency- A:0.42NS EA NA WA 780
rs79803171,2
C,F,A,57158183(+) GTGCAT/CGAGCA 1 -- int110Minor allele frequency- C:0.40NS EA NA 492
About this table

HapMap Linkage Disequilibrium images for HSD17B6 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      Database of Genomic Variants (DGV) variations for HSD17B6: --

Search QIAGEN SeqTarget long-range PCR primers for resequencing for HSD17B6 

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
About This Section

HSD17B6 for disorders           About GeneDecksing

OMIM: 606623

Human Genome Epidemiology (HuGE) Navigator: HSD17B6 (4 documents)

Export disorders and mutations for HSD17B6 gene to outside databases

(Possibly Related Articles in Doctor's Guide)
About This Section
  --

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
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10/23 PubMed articles for HSD17B6 gene, integrated from 7 sources (see all 23):
(articles sorted by number of sources associating them with HSD17B6)
  1. Expression cloning and characterization of oxidative 17beta- and 3alpha-hydroxysteroid dehydrogenases from rat and human prostate. (PubMed id 9188497)1, 2, 7 Biswas M.G. and Russell D.W. (1997)
  2. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PubMed id 19027726)1, 3 Persson B.... Oppermann U. (2009)
  3. Gene structure, chromosomal localization and analysis of 3- ketosteroid reductase activity of the human 3(alpha-->beta)- hydroxysteroid epimerase. (PubMed id 11513953)1, 2 Huang X.-F. and Luu-The V. (2001)
  4. Further characterization of human microsomal 3alpha-hydroxysteroid dehydrogenase. (PubMed id 11360992)1, 2 Chetyrkin S.V.... Kedishvili N.Y. (2001)
  5. Evolution of 17beta-hydroxysteroid dehydrogenases and their role in androgen, estrogen and retinoid action. (PubMed id 11165032)1, 3 Baker M.E. (2001)
  6. Molecular characterization of a first human 3(alpha-->beta)- hydroxysteroid epimerase. (PubMed id 10896656)1, 2 Huang X.-F. and Luu-The V. (2000)
  7. Genome-wide meta-analyses identifies seven loci assoc iated with platelet aggregation in response to agonists. (PubMed id 20526338)1 Johnson A.D....Becker L.C. (2010)
  8. Family-based analysis of candidate genes for polycyst ic ovary syndrome. (PubMed id 20200332)1 Ewens K.G....Spielman R.S. (2010)
  9. Polymorphisms of the HSD17B6 and HSD17B5 genes in Chi nese women with polycystic ovary syndrome. (PubMed id 21039282)1 Ke L....Wang Y. (2010)
  10. Independent confirmation of association between metab olic phenotypes of polycystic ovary syndrome and variation in the type 6 17beta -hydroxysteroid dehydrogenase gene. (PubMed id 19837928)1 Jones M.R....Goodarzi M.O. (2009)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 8630 HGNC: 23316 AceView: RODH Ensembl:ENSG00000025423 euGenes: HUgn8630
ECgene: HSD17B6 Kegg: 8630 H-InvDB: HSD17B6

(According to HUGE)
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  --

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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