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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

HSD17B6 Gene

protein-coding GIFtS: 56
GCID: GC12P057157

hydroxysteroid (17-beta) dehydrogenase 6

(Previous names: hydroxysteroid (17-beta) dehydrogenase 6, hydroxysteroid...)

Explore 18 diseases affiliated with
HSD17B6 via

MalaCards

our new
Human Malady Compendium

(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 6¹ ²		3(Alpha->Beta)-Hydroxysteroid Epimerase²
RODH¹ ² ³		3(Alpha->Beta)-Hydroxysteroid Epimerasel²
HSE¹ ² ⁵		3-Hydroxysteroid Epimerase²
SDR9C6¹ ²		Hydroxysteroid (17-Beta) Dehydrogenase 6 Homolog²
Oxidative 3-Alpha Hydroxysteroid Dehydrogenase² ³		NAD+ -Dependent 3 Alpha-Hydroxysteroid Dehydrogenase 3-Hydroxysteroid Epimerase²
17-Beta-HSD6¹		Oxidative 3-Alpha-Hydroxysteroid-Dehydrogenase²
17-Beta-HSD 6² ³		Oxidoreductase¹
3-Alpha->Beta-HSE¹		Retinol Dehydrogenase²
3-Alpha->Beta-Hydroxysteroid Epimerase² ³		Short Chain Dehydrogenase/Reductase Family 9C, Member 6²
EC 1.1.1.105³ ⁸		EC 1.1.1.239³
Hydroxysteroid (17-Beta) Dehydrogenase 6 Homolog (Mouse)¹		EC 1.1.1.62³
17-Beta-Hydroxysteroid Dehydrogenase Type 6²		EC 1.1.1⁸

External Ids:	HGNC: 23316¹	Entrez Gene: 8630²	Ensembl: ENSG00000025423⁷	OMIM: 606623⁵	UniProtKB: O14756³

Export aliases for HSD17B6 gene to outside databases

Previous GC identifers: GC12P055444 GC12P054196

(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 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, Jul 2008)

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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000012.11 NC_018923.1 NT_029419.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the HSD17B6 gene promoter:
Sp1 AP-1 Brachyury ATF-2 IRF-1 PPAR-gamma1 STAT3 PPAR-gamma2 c-Jun
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: HSD17B6 promoter sequence

Search SABiosciences Chromatin IP Primers for HSD17B6

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HSD17B6

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

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

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 information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12P057157: view genomic region (about GC identifiers)

Start:	57,145,945 bp from pter	End:	57,181,574 bp from pter
Size:	35,630 bases	Orientation:	plus strand

(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: 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

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O14756

4/6 DME Specific Peptides for HSD17B6 (O14756) (see all 6)

GVEAFSD

GLVNNAG

TGCDSGFG

VTDCMEHALT

HSD17B6 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_003716.2

ENSEMBL proteins:

ENSP00000450698 ENSP00000451753 ENSP00000451406 ENSP00000452103 ENSP00000452273

ENSP00000451497 ENSP00000318631

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Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	NAS	11513953
GO:0005783	endoplasmic reticulum	IEA	--
GO:0005792	microsome	--	--
GO:0031901	early endosome membrane	IEA	--

HSD17B6 for ontologies About GeneDecksing

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	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 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: 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: 17-beta-estradiol + NAD(P)(+) = estrone + NAD(P)H

Catalytic activity: Testosterone + NAD(+) = androstenedione + NADH

Catalytic activity: All-trans-retinol-[cellular-retinol-binding-protein] + NAD(+) =

all-trans-retinal-[cellular-retinol-binding-protein] + 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 1.1.1.105¹ ² EC 1.1.1.62¹ EC 1.1.1² EC 1.1.1.239¹

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HSD17B6

Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0003824	catalytic activity	TAS	9188497
GO:0004303	estradiol 17-beta-dehydrogenase activity	IEA	--
GO:0004745	retinol dehydrogenase activity	IEA	--
GO:0009055	electron carrier activity	TAS	9188497

HSD17B6 for ontologies About GeneDecksing

(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-pathway

contained gene-specific pathways

Steroid hormone biosynthesis

Steroid hormone biosynthesis

1.00

Metabolism

Metabolic pathways

0.38

Pathway sources
See GeneCards unified pathways
Show all pathways

2 Kegg Pathways (Kegg details for HSD17B6):

	Steroid hormone biosynthesis
	Metabolic pathways

HSD17B6 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for HSD17B6

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

5/33 Interacting proteins for HSD17B6 (ENSP00000318631⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 33)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
AKR1D1	ENSP00000242375⁴	STRING: ENSP00000242375
CYP11B1	ENSP00000292427⁴	STRING: ENSP00000292427
CYP19A1	ENSP00000260433⁴	STRING: ENSP00000260433
CYP1A1	ENSP00000369050⁴	STRING: ENSP00000369050
CYP1B1	ENSP00000260630⁴	STRING: ENSP00000260630

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006702	androgen biosynthetic process	NAS	9188497
GO:0006710	androgen catabolic process	TAS	9188497
GO:0055114	oxidation-reduction process	--	--

HSD17B6 for ontologies About GeneDecksing

(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

HSD17B6 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for HSD17B6

6 HMDB Compounds for HSD17B6 About this table

Compound	Synonyms	CAS #	PubMed Ids
Estradiol	(+)-3,17b-Estradiol (see all 83)	50-28-2	--
Estrone	(+)-Estrone (see all 7)	53-16-7	--
NAD	3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)	53-84-9	--
NADH	1,4-Dihydronicotinamide adenine dinucleotide (see all 17)	58-68-4	--
Succinic acid	1,2-Ethanedicarboxylate (see all 11)	110-15-6	--
Testosterone	(+)-testosterone (see all 86)	58-22-0	--

1 DrugBank Compound for HSD17B6 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Succinic acid	1,2-Ethanedicarboxylic acid (see all 8)	110-15-6	target	--	15646028 16371358 15713802 16405730 15639001

3 Novoseek chemical compound relationships for HSD17B6 gene About this table

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)

Search CenterWatch for drugs/clinical trials and news about HSD17B6 / H17B6

(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 HSD17B6 gene:

NM_003725.2

Unigene Cluster for HSD17B6:

Hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse)

Hs.524513 [show with all ESTs]

Unigene Representative Sequence: NM_003725

10 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000555159 ENST00000555805 ENST00000554643 ENST00000556650 ENST00000554150

ENST00000556481 ENST00000554155 ENST00000322165(uc001smg.1) ENST00000556875

ENST00000553476

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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.91751202 DT.121209263 DT.121209277 DT.40307845

11 AceView cDNA sequences:

AA317665 CB162089 CD248621 AU133812 AV660232 AV658227 AV683846 AV659731

AV691524 AV683719 AV653177

GeneLoc Exon Structure

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

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:													-		-

ECgene alternative splicing isoforms for HSD17B6

(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

HSD17B6 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTTATATTTC

About this image

HSD17B6 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

Cell

Category (developmental path)

Liver

Liver Lobule

Periportal Hepatocytes

Liver

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See HSD17B6 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for HSD17B6

SOURCE GeneReport for Unigene cluster: Hs.524513

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

SABiosciences Custom PCR Arrays for HSD17B6

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In Situ
Assay Products:

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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)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for HSD17B6 gene from 8/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	F1NB59_CHICK⁶	Uncharacterized protein	18(a)	possible ortholog	8(14638970-14645915)
lizard (Anolis carolinensis)	Reptilia	-- -- (see all 10)	--	63(a) 61(a) (see all 10)	many ↔ many many ↔ many (see all 10)	2(94992858-94998051) 2(95074571-95078789)
African clawed frog (Xenopus laevis)	Amphibia	BC060497.1²	--	76.75(n)		BC060497.1
zebrafish (Danio rerio)	Actinopterygii	BC046089.1²	--	71.69(n)		378440 BC046089.1
worm (Caenorhabditis elegans)	Secernentea	dhs-20¹	Protein DHS-20	49.23(n) 41.39(a)		179590 NM_073540.4 NP_505941.3
thale cress (Arabidopsis thaliana)	eudicotyledons	AT5G10050⁶ AT5G65205⁶	1-acylglycerone phosphate reductase Rossmann-fold NAD(P)-binding domain-containing pro...	21(a) 20(a)	possible ortholog possible ortholog	5(3144200-3145730) 5(26050810-26052034)
rice (Oryza sativa)	Liliopsida	-- --	oxidoreductase, short chain dehydrogenase/reductas... oxidoreductase, short chain dehydrogenase/reductas...	22(a) 20(a)	possible ortholog possible ortholog	12(27135120-27136028) 4(22652738-22655412)
E. coli (Escherichia coli)	Gamma proteobacteria	ybbO⁶	predicted oxidoreductase with NAD(P)-binding Rossm...	26(a)	possible ortholog	Chromosome(517564-518373)

ENSEMBL Gene Tree for HSD17B6 (if available)
TreeFam Gene Tree for HSD17B6 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for HSD17B6 gene

SDR9C7² DHRS9² HSD11B2² HSD17B2² BDH1² RDH8² RDH16² DHRS7B²

DHRS7² HSD17B1² KDSR² DHRS7C² RDH5²

7 SIMAP similar genes for HSD17B6 using alignment to 3 protein entries: H17B6_HUMAN (see all proteins):

RDH16 SDR9C7 RDHL BDH1 DHRS9 RDH5

HSD17B2

HSD17B6 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for HSD17B6
PGOHUM00000239479

(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)
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SNP ID	Valid	Clinical significance	Chr 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs190041488^1,2		--	57155152(+)	`AAAACC/TCGTCT`	1	--	us2k¹		0	--	--	--	--
rs139581810^1,2		--	57155154(+)	`AACTCA/GTCTCT`	1	--	us2k¹		0	--	--	--	--
rs144992584^1,2		--	57155186(+)	`TGGGTA/GTGGTG`	1	--	us2k¹		0	--	--	--	--
rs10747770^1,2	C,F,A,H,	--	57155219(+)	`ACTCAA/GGAGGC`	1	--	us2k¹		6		NA CSA	14
rs4759256^1,2	C,F,H,	--	57155256(+)	`GGAGGC/AAGAGG`	1	--	us2k¹ trp³		13		NS EA NA WA CSA	309
rs35582861^1,2	C	--	57155325(+)	`CTCTC-/AAAAAA`	1	--	us2k¹		1		NA	2
rs145808877^1,2		--	57155679(+)	`AGACAG/TTAAAA`	1	--	us2k¹		0	--	--	--	--
rs77105155^1,2		--	57155703(+)	`AATAGA/GTGAAC`	1	--	us2k¹		2		CSA WA	120
rs148990603^1,2		--	57155868(+)	`GTGACA/TGCTAA`	1	--	us2k¹		0	--	--	--	--
rs112939535^1,2	C	--	57156039(+)	`AAAAA-/AA TATATATATA`	1	--	us2k¹		1		CSA	2

HapMap Linkage Disequilibrium report for HSD17B6 (57145945 - 57181574 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for HSD17B6: --

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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HSD17B6 for disorders           About GeneDecksing

OMIM gene information: 606623    OMIM disorders: --

18 diseases for HSD17B6:    About MalaCards

smith-lemli-opitz syndrome apparent mineralocorticoid excess syndrome retinol binding protein adrenal hyperplasia

corpus callosum polycystic ovary syndrome cushing's syndrome hereditary breast ovarian cancer

breast-ovarian cancer pseudohermaphroditism ovary sarcoma ovarian cancer

prostate cancer adenoma retinitis prostatitis

tuberculosis mycobacterium tuberculosis

1 disease from the University of Copenhagen DISEASES database for HSD17B6:

Apparent mineralocorticoid excess syndrome

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

Export disorders for HSD17B6 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 HSD17B6 gene, integrated from 9 sources (see all 29):
(articles sorted by number of sources associating them with HSD17B6)

Utopia: connect your pdf to the dynamic
world of online information

Expression cloning and characterization of oxidative 17beta- and 3alpha-hydroxysteroid dehydrogenases from rat and human prostate. (PubMed id 9188497)^{1, 2, 9} Biswas M.G. and Russell D.W. (1997)
The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PubMed id 19027726)^{1, 3} Persson B.... Oppermann U. (2009)
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)
Further characterization of human microsomal 3alpha-hydroxysteroid dehydrogenase. (PubMed id 11360992)^{1, 2} Chetyrkin S.V.... Kedishvili N.Y. (2001)
Evolution of 17beta-hydroxysteroid dehydrogenases and their role in androgen, estrogen and retinoid action. (PubMed id 11165032)^{1, 3} Baker M.E. (2001)
Molecular characterization of a first human 3(alpha-->beta)- hydroxysteroid epimerase. (PubMed id 10896656)^{1, 2} Huang X.-F. and Luu-The V. (2000)
Estrogen receptor I^ and 17I^-hydroxysteroid dehydrogen ase type 6, a growth regulatory pathway that is lost in prostate cancer. (PubMed id 22114194)¹ Muthusamy S....Gustafsson J.A.8. (2011)
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)
Family-based analysis of candidate genes for polycyst ic ovary syndrome. (PubMed id 20200332)¹ Ewens K.G....Spielman R.S. (2010)
Polymorphisms of the HSD17B6 and HSD17B5 genes in Chi nese women with polycystic ovary syndrome. (PubMed id 21039282)¹ Ke L....Wang Y. (2010)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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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 PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for HSD17B6	Pharmacogenomics, SNPs, Pathways

Intellectual Property for HSD17B6 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for HSD17B6 gene:
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HSD17B6 Gene

hydroxysteroid (17-beta) dehydrogenase 6

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HSD17B6 (Gene Symbol)
Hydroxysteroid (17-Beta) Dehydrogenase 6
RODH
HSE
SDR9C6
Oxidative 3-Alpha Hydroxysteroid Dehydrogenase
17-Beta-HSD6
17-Beta-HSD 6
3-Alpha->Beta-HSE
3-Alpha->Beta-Hydroxysteroid Epimerase
EC 1.1.1.105
Hydroxysteroid (17-Beta) Dehydrogenase 6 Homolog (Mouse)
17-Beta-Hydroxysteroid Dehydrogenase Type 6
3(Alpha->Beta)-Hydroxysteroid Epimerase
3(Alpha->Beta)-Hydroxysteroid Epimerasel
3-Hydroxysteroid Epimerase
Hydroxysteroid (17-Beta) Dehydrogenase 6 Homolog
NAD+ -Dependent 3 Alpha-Hydroxysteroid Dehydrogenase 3-Hydroxysteroid Epimerase
Oxidative 3-Alpha-Hydroxysteroid-Dehydrogenase
Oxidoreductase
Retinol Dehydrogenase
Short Chain Dehydrogenase/Reductase Family 9C, Member 6
EC 1.1.1.239
EC 1.1.1.62
EC 1.1.1

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HSD17B6 Gene

hydroxysteroid (17-beta) dehydrogenase 6

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