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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

HSD17B7 Gene

protein-coding GIFtS: 60
GCID: GC01P162760

hydroxysteroid (17-beta) dehydrogenase 7

Explore 11 diseases affiliated with
HSD17B7 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 7¹ ²		17 Beta-Hydroxysteroid Dehydrogenase Type VII²
PRAP¹ ²		17beta Hydroxysteroid Dehydrogenase²
SDR37C1¹ ²		3-Keto-Steroid Reductase²
Estradiol 17-Beta-Dehydrogenase 7² ³		Short Chain Dehydrogenase/Reductase Family 37C, Member 1²
17-Beta-HSD 7² ³		EC 1.1.1.270³
17-Beta-Hydroxysteroid Dehydrogenase 7² ³		EC 1.1.1.62³

External Ids:	HGNC: 5215¹	Entrez Gene: 51478²	Ensembl: ENSG00000132196⁷	OMIM: 606756⁵	UniProtKB: P56937³

Export aliases for HSD17B7 gene to outside databases

Previous GC identifers: GC01P160395 GC01P158411 GC01P159456 GC01P159947 GC01P159492 GC01P161027 GC01P134005

(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 HSD17B7:

HSD17B7 encodes an enzyme that functions both as a 17-beta-hydroxysteroid dehydrogenase (EC 1.1.1.62) in the

biosynthesis of sex steroids and as a 3-ketosteroid reductase (EC 1.1.1.270) in the biosynthesis of cholesterol

(Marijanovic et al., 2003 (PubMed 12829805)).(supplied by OMIM, May 2010)

UniProtKB/Swiss-Prot: DHB7_HUMAN, P56937

Function: Responsible for the reduction of the keto group on the C-3 of sterols

Gene Wiki entry for HSD17B7

(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_000001.10 NC_018912.1 NT_004487.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the HSD17B7 gene promoter:
ER-alpha AREB6 GATA-3 POU2F1 Sp1 POU2F1a Nkx2-5 Evi-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: HSD17B7 promoter sequence

Search SABiosciences Chromatin IP Primers for HSD17B7

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HSD17B7

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

Entrez Gene cytogenetic band: 1q23 Ensembl cytogenetic band: 1q23.3 HGNC cytogenetic band: 1q23

HSD17B7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HSD17B7 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P162760: view genomic region (about GC identifiers)

Start:	162,760,492 bp from pter	End:	162,782,608 bp from pter
Size:	22,117 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: DHB7_HUMAN, P56937 (See protein sequence)

Recommended Name: 3-keto-steroid reductase

Size: 341 amino acids; 38206 Da

Subcellular location: Cell membrane; Single-pass membrane protein

Secondary accessions: Q5T246 Q7Z4V9 Q8WWS2 Q9UF00

Alternative splicing: 3 isoforms: P56937-1 P56937-2 P56937-3

Explore the universe of human proteins at neXtProt for HSD17B7: NX_P56937

Post-translational modifications:

Phosphorylated¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P56937

HSD17B7 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_057455.1

ENSEMBL proteins:

ENSP00000356892 ENSP00000436334 ENSP00000254521 ENSP00000356889 ENSP00000412146

ENSP00000356894

Reactome Protein details: P56937
Human Recombinant Protein Products for HSD17B7:

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	Browse Proteins at Uscn

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:0005783	endoplasmic reticulum	--	--
GO:0005789	endoplasmic reticulum membrane	TAS	--
GO:0005886	plasma membrane	IEA	--
GO:0016021	integral to membrane	IEA	--

HSD17B7 for ontologies About GeneDecksing

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

HSD17B7 for domains About GeneDecksing

3 InterPro domains/families:

IPR002347 Glc/ribitol_DH

IPR002198 DH_sc/Rdtase_SDR

IPR016040 NAD(P)-bd_dom

Graphical View of Domain Structure for InterPro Entry P56937

ProtoNet protein and cluster: P56937

2 Blocks protein families:

IPB002198 Short-chain dehydrogenase/reductase SDR

IPB002347 Glucose/ribitol dehydrogenase family signature

UniProtKB/Swiss-Prot: DHB7_HUMAN, P56937

Similarity: Belongs to the short-chain dehydrogenases/reductases (SDR) family. ERG27 subfamily

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

Molecular Function:

UniProtKB/Swiss-Prot Summary: DHB7_HUMAN, P56937

Function: Responsible for the reduction of the keto group on the C-3 of sterols

Catalytic activity: A 3-beta-hydroxysteroid + NADP(+) = a 3-oxosteroid + NADPH

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

Genatlas biochemistry entry for HSD17B7:

17 beta hydroxysteroid dehydrogenase type 7,expressed in the corpus luteum during pregnancy,responsible for extradive

biosynthesis

Enzyme Numbers (IUBMB): EC 1.1.1.62¹ EC 1.1.1.270¹

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0000253	3-keto sterol reductase activity	IEA	--
GO:0004303	estradiol 17-beta-dehydrogenase activity	IEA	--
GO:0005148	prolactin receptor binding	IEA	--
GO:0016491	oxidoreductase activity	--	--

HSD17B7 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for HSD17B7:

Increased gamma-H2AX phosphory

9 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Hsd17b7):

cardiovascular system	craniofacial	embryogenesis	growth/size	homeostasis/metabolism
mortality/aging	muscle	nervous system	skeleton

HSD17B7 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Hsd17b7^tm1Gibo for HSD17B7

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for HSD17B7

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HSD17B7

(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 - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Estrone metabolism

Estrone metabolism	1.00	Estrogen biosynthesis	0.47
Estrone metabolism	1.00	Estrogen biosynthesis	0.47
Androstenedione and testosterone biosynthesis and metabolism p.1	0.57	Steroid Biosynthesis	0.21
Androstenedione and testosterone biosynthesis and metabolism p.1	0.57

cholesterol biosynthesis III (via desmosterol)

cholesterol biosynthesis III (via desmosterol)	1.00	Steroid biosynthesis	0.60
cholesterol biosynthesis I	1.00	zymosterol biosynthesis	0.46
cholesterol biosynthesis II (via 24,25-dihydrolanosterol)	1.00

Metabolism

	Metabolism	1.00			Metabolism of lipids and lipoproteins	0.34
	Metabolic pathways	0.38

Cholesterol biosynthesis

Cholesterol biosynthesis

1.00

superpathway of cholesterol biosynthesis

0.81

estrogen biosynthesis

estrogen biosynthesis

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

3 EMD Millipore Pathways for HSD17B7

	Androstenedione and testosterone biosynthesis and metabolism p.1
	Estrone metabolism
	Estrogen biosynthesis

3 GeneGo (Thomson Reuters) Pathways for HSD17B7

	Estrogen biosynthesis
	Estrone metabolism
	Androstenedione and testosterone biosynthesis and metabolism p.1

5/7 BioSystems Pathways for HSD17B7 (see all 7)

	zymosterol biosynthesis
	superpathway of cholesterol biosynthesis
	cholesterol biosynthesis I
	cholesterol biosynthesis III (via desmosterol)
	Steroid Biosynthesis

3 Reactome Pathways for HSD17B7

	Metabolism
	Cholesterol biosynthesis
	Metabolism of lipids and lipoproteins

3 Kegg Pathways (Kegg details for HSD17B7):

	Steroid biosynthesis
	Steroid hormone biosynthesis
	Metabolic pathways

UniProtKB/Swiss-Prot: DHB7_HUMAN, P56937

Pathway: Steroid biosynthesis; estrogen biosynthesis

Pathway: Steroid biosynthesis; zymosterol biosynthesis; zymosterol from lanosterol: step 5/6

HSD17B7 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for HSD17B7

STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

5/13 Interacting proteins for HSD17B7 (ENSP00000254521⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 13)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
UBC	ENSP00000344818⁴	STRING: ENSP00000344818
AGPAT6	ENSP00000380184⁴	STRING: ENSP00000380184
BRSK1	ENSP00000310649⁴	STRING: ENSP00000310649
CA1	ENSP00000256119⁴	STRING: ENSP00000256119
DTYMK	ENSP00000304802⁴	STRING: ENSP00000304802

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006695	cholesterol biosynthetic process	TAS	--
GO:0006703	estrogen biosynthetic process	IEA	--
GO:0044281	small molecule metabolic process	TAS	--
GO:0071445	cellular response to protein stimulus	--	--

HSD17B7 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

HSD17B7 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for HSD17B7

10/19 HMDB Compounds for HSD17B7 (see all 19) About this table

Compound	Synonyms	CAS #	PubMed Ids
16a-Hydroxyestrone	16a-Hydroxyestrone (see all 5)	566-76-7	--
3-Keto-4-methylzymosterol	4-methyl-5a-cholesta-8,24-dien-3-one (see all 6)	--	--
4-alpha-Methyl-5-alpha-cholest-7-en-3-beta-ol	4-a-Methyl-5-a-cholest-7-en-3-b-ol (see all 5)	481-25-4	--
4-alpha-Methyl-5-alpha-cholest-7-en-3-one	4alpha-Methyl-5alpha-cholest-7-en-3-one	2789-43-7	--
4a-Methyl-5a-cholesta-8,24-dien-3-one	4alpha-methyl-5alpha-cholesta-8,24-dien-3-one	7377-73-3	--
4a-Methylzymosterol	4alpha-methyl-5alpha-cholesta-8,24-dien-3beta-ol (see all 7)	7448-03-5	--
4a-Methylzymosterol-4-carboxylic acid	4alpha-Carboxy-4beta-methyl-5alpha-cholesta-8,24-dien-3beta-ol (see all 2)	--	--
5a-Cholesta-8,24-dien-3-one	5alpha-cholesta-8,24-dien-3-one	--	--
Carbon dioxide	Carbon oxide (see all 5)	124-38-9	--
Estradiol	(+)-3,17b-Estradiol (see all 83)	50-28-2	--

1 DrugBank Compound for HSD17B7 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
NADH	beta-DPNH (see all 18)	606-68-8	target	--	17139284 17016423

3 Novoseek chemical compound relationships for HSD17B7 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
17beta-hydroxysteroid	86.7	5	16356630 (1), 15731358 (1), 17498944 (1), 10544267 (1)
steroid	32	2	17498944 (1)
cholesterol	22.2	3	16356630 (1), 17498944 (1)

Search CenterWatch for drugs/clinical trials and news about HSD17B7 / DHB7

(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,
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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 HSD17B7 gene:

NM_016371.2

Unigene Cluster for HSD17B7:

Hydroxysteroid (17-beta) dehydrogenase 7

Hs.492925 [show with all ESTs]

Unigene Representative Sequence: AK022929

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

ENST00000485405(uc001gci.3 uc009wuv.3) ENST00000463037 ENST00000367915

ENST00000466176 ENST00000254521 ENST00000367913 ENST00000484251 ENST00000413934

ENST00000494450 ENST00000470195 ENST00000488656 ENST00000367917

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Additional cDNA sequence:

AF098786.2 AF145023.1 AJ249179.1 AK022929.1 AK290741.1 AY358962.1 BC007068.1 BC065246.1

BT007075.1

12 DOTS entries:

DT.212132 DT.95356397 DT.40229952 DT.95373297 DT.100819443 DT.121355368 DT.40256072 DT.100819439

DT.121355374 DT.102827107 DT.121355367 DT.121355377

24/95 AceView cDNA sequences (see all 95):

BU674056 AI245405 AI783561 AF098786 NM_016371 BX101987 AJ249179 BT007075

CR625699 AW243862 BQ440565 BM825021 BG163621 AY358962 N77671 BE257566

BQ229297 AK022929 BM710063 AW136392 BM837667 CD514563 CF597082 BU943150

GeneLoc Exon Structure

(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

HSD17B7 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GATTTCTACT

About this image

HSD17B7 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)

Eye

Retina

Eye

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See HSD17B7 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for HSD17B7

SOURCE GeneReport for Unigene cluster: Hs.492925

UniProtKB/Swiss-Prot: DHB7_HUMAN, P56937

Tissue specificity: Highly expressed in adrenal gland, liver, lung and thymus. Expressed in breast, ovaries, pituitary

gland, pregnant uterus, prostate, kidney, lymph node, small intestine, spinal cord and trachea. Weakly expressed in

all other tissues tested. Isoform 3 is expressed in eye ciliary epithelial cells and neuroendocrine cells

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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 common ancestor of animals and fungi.

Orthologs for HSD17B7 gene from 5/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Hsd17b7^{1 , 5}	hydroxysteroid (17-beta) dehydrogenase 7^{1, 5}	80.42(n)¹ 78.92(a)¹		1 (76.84 cM)⁵ 15490¹ NM_010476.3¹ NP_034606.3¹ 169949535⁵
chicken (Gallus gallus)	Aves	HSD17B7¹	hydroxysteroid (17-beta) dehydrogenase 7	65.52(n) 63.75(a)		424367 XM_422210.2 XP_422210.2
lizard (Anolis carolinensis)	Reptilia	HSD17B7⁶	--	60(a)	1 ↔ 1	GL343300.1(1051761-1071997)
zebrafish (Danio rerio)	Actinopterygii	hsd17b7¹	hydroxysteroid (17-beta) dehydrogenase 7	64.2(n) 61.11(a)		768185 NM_001077328.1 NP_001070796.1
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	ERG27(YLR100W)⁴ ERG27¹	3-keto sterol reductase, catalyzes the last of three more⁴ Erg27p¹	41.51(n)¹ 23.62(a)¹		12(341810-342853)⁴ 850790^{1, 4} NP_013201.1^{1, 4}

ENSEMBL Gene Tree for HSD17B7 (if available)
TreeFam Gene Tree for HSD17B7 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for HSD17B7 gene

2 SIMAP similar genes for HSD17B7 using alignment to 5 protein entries: DHB7_HUMAN (see all proteins):

RDH11 RDH13

HSD17B7 for paralogs About GeneDecksing

4 Pseudogenes.org Pseudogenes for HSD17B7
PGOHUM00000257786 PGOHUM00000257787 PGOHUM00000245051 PGOHUM00000245301

(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 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs116543936^1,2	F	--	162758606(+)	`TTGAGG/ATCCCT`	1	--	us2k¹		1		NA	120
rs1780011^1,2	C,A,H	--	162758617(-)	`GGGTAA/GCCCAT`	1	--	us2k¹ tfbs³		6		NA EA	248
rs191122356^1,2		--	162758697(+)	`ATGGCA/TTGGCC`	1	--	us2k¹		0	--	--	--	--
rs183711105^1,2		--	162758744(+)	`CTTTCC/TCTTTC`	1	--	us2k¹		0	--	--	--	--
rs57717002^1,2	C,F	--	162758770(+)	`GGAAGT/GGTGGC`	1	--	us2k¹		2		WA NA	238
rs188987996^1,2		--	162758849(+)	`AAAGGC/TTGGGA`	1	--	us2k¹		0	--	--	--	--
rs113910056^1,2	C	--	162758854(+)	`CTGGGG/ATGTAA`	1	--	us2k¹		1		WA	2
rs192601475^1,2		--	162758943(+)	`GGACCC/GCTTTA`	1	--	us2k¹		0	--	--	--	--
rs1704755^1,2	C,H	--	162759246(-)	`ATTACG/AGTTTT`	1	--	us2k¹		5		NA CSA	9
rs1626296^1,2	C	--	162759531(-)	`CAAAAT/GGAAAA`	1	--	us2k¹ trp³		1		NA	2

HapMap Linkage Disequilibrium report for HSD17B7 (162760492 - 162782608 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for HSD17B7
1 CNV: 48150

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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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HSD17B7 for disorders           About GeneDecksing

OMIM gene information: 606756    OMIM disorders: --

11 diseases for HSD17B7:    About MalaCards

cholesterol breast-ovarian cancer essential hypertension ovarian endometriosis

endometrial adenocarcinoma endometriosis ovarian cancer hypertension

adenocarcinoma breast cancer prostatitis

Human Genome Epidemiology (HuGE) Navigator: HSD17B7 (6 documents)

Export disorders for HSD17B7 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 HSD17B7 gene, integrated from 9 sources (see all 34):
(articles sorted by number of sources associating them with HSD17B7)

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world of online information

Determination of cDNA, gene structure and chromosomal localization of the novel human 17beta-hydroxysteroid dehydrogenase type 7. (PubMed id 10544267)^{1, 2, 3, 9} Krazeisen A.... Adamski J. (1999)
The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PubMed id 19027726)^{1, 3} Persson B.... Oppermann U. (2009)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
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)
Production, purification, and functional analysis of recombinant human and mouse 17beta-hydroxysteroid dehydrogenase type 7. (PubMed id 12732193)^{1, 2} Toern S.... Vihko P. (2003)
Closing the gap: identification of human 3-ketosteroid reductase, the last unknown enzyme of mammalian cholesterol biosynthesis. (PubMed id 12829805)^{1, 2} Marijanovic Z....Breitling R. (2003)
The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)^{1, 2} Clark H.F.... Gray A.M. (2003)
Two 17beta-hydroxysteroid dehydrogenases (17HSDs) of estradiol biosynthesis: 17HSD type 1 and type 7. (PubMed id 10419022)^{1, 3} Peltoketo H....Vihko P. (1999)
Analysis of the 5' flanking regions of human and murine HSD17B7: identification of a cholesterol dependent enhancer region. (PubMed id 16356630)^{1, 9} Ohnesorg T. and Adamski J. (2006)
Functional analysis of cholesterol biosynthesis by RNA interference. (PubMed id 17498944)^{1, 9} Guggenberger C....Adamski J. (2007)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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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: 51478	HGNC: 5215	AceView: HSD17B7	Ensembl:ENSG00000132196	euGenes: HUgn51478
ECgene: HSD17B7	Kegg: 51478	H-InvDB: HSD17B7

(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 HSD17B7	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for HSD17B7	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for HSD17B7 gene
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Patent Information for HSD17B7 gene:
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HSD17B7 Gene

hydroxysteroid (17-beta) dehydrogenase 7

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HSD17B7 Gene

hydroxysteroid (17-beta) dehydrogenase 7

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