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 fam... See more...

Aliases for HSD17B6 Gene

Aliases for HSD17B6 Gene

  • Hydroxysteroid 17-Beta Dehydrogenase 6 2 3 5
  • SDR9C6 2 3 4
  • RODH 2 3 4
  • Short Chain Dehydrogenase/Reductase Family 9C Member 6 3 4
  • Oxidative 3-Alpha-Hydroxysteroid-Dehydrogenase 2 3
  • 17-Beta-Hydroxysteroid Dehydrogenase Type 6 3 4
  • 3(Alpha->Beta)-Hydroxysteroid Epimerasel 2 3
  • 3-Hydroxysteroid Epimerase 2 3
  • Retinol Dehydrogenase 2 3
  • 3-Alpha->Beta-HSE 3 4
  • Oxidoreductase 2 3
  • 17-Beta-HSD 6 3 4
  • EC 1.1.1.105 4 51
  • HSE 2 3
  • NAD+ -Dependent 3 Alpha-Hydroxysteroid Dehydrogenase 3-Hydroxysteroid Epimerase 3
  • Hydroxysteroid (17-Beta) Dehydrogenase 6 Homolog (Mouse) 2
  • Short Chain Dehydrogenase/Reductase Family 9C, Member 6 2
  • 17-Beta-Hydroxysteroid Dehydrogenase Type 6 Variant 1 3
  • 17-Beta-Hydroxysteroid Dehydrogenase Type 6 Variant 2 3
  • 17-Beta-Hydroxysteroid Dehydrogenase Type 6 Variant 3 3
  • NAD+ -Dependent 3 Alpha-Hydroxysteroid Dehydrogenase 2
  • Hydroxysteroid (17-Beta) Dehydrogenase 6 Homolog 3
  • Oxidative 3-Alpha Hydroxysteroid Dehydrogenase 4
  • Hydroxysteroid (17-Beta) Dehydrogenase 6 2
  • 3(Alpha->Beta)-Hydroxysteroid Epimerase 3
  • 3-Alpha->Beta-Hydroxysteroid Epimerase 4
  • 17-Beta-HSD6 4
  • EC 1.1.1.239 4
  • EC 1.1.1.62 4
  • EC 1.1.1 51
  • HSD17B6 5

External Ids for HSD17B6 Gene

Previous GeneCards Identifiers for HSD17B6 Gene

  • GC12P055444
  • GC12P057157
  • GC12P054196

Summaries for HSD17B6 Gene

Entrez Gene Summary for HSD17B6 Gene

  • 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. [provided by RefSeq, Aug 2013]

GeneCards Summary for HSD17B6 Gene

HSD17B6 (Hydroxysteroid 17-Beta Dehydrogenase 6) is a Protein Coding gene. Diseases associated with HSD17B6 include Anthracosilicosis and Hypotrichosis 2. Among its related pathways are Signaling by GPCR and Metabolism of fat-soluble vitamins. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and retinol dehydrogenase activity. An important paralog of this gene is RDH16.

UniProtKB/Swiss-Prot Summary for HSD17B6 Gene

  • 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 Gene

Additional gene information for HSD17B6 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HSD17B6 Gene

Genomics for HSD17B6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HSD17B6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J056748 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 -1.2 -1202 4.1 ZNF221 HNRNPL PRDM10 ZNF629 TFE3 ZNF512 SIX5 LEF1 IKZF1 ZNF692 PRIM1 HSD17B6 lnc-NACA-1 lnc-RBMS2-2 BAZ2A RN7SL809P NEMP1 MBD6 TMEM198B CDK2
GH12J056764 Promoter/Enhancer 1 EPDnew ENCODE 600.4 +11.1 11131 0.2 CTCF ZSCAN4 REST RAD21 TRIM22 ZNF341 ZNF444 YY1 SMC3 ZFHX2 piR-57278 HSD17B6 GPR182 NACA MYO1A SDR9C7 piR-60246-040 PRIM1 lnc-RBMS2-2
GH12J056768 Enhancer 0.7 FANTOM5 26.1 +16.5 16507 0.2 CEBPG GATAD2A FOXA1 SP1 CEBPA CEBPB CTBP1 FOXA2 YY1 ZBTB33 APOF HSD17B6 RDH16 SPRYD4 GLS2 GPR182 NACA MYO1A PAN2 piR-60246-040
GH12J056838 Enhancer 0.9 Ensembl ENCODE 6.8 +87.9 87944 3 CTCF JUND REST RAD21 HDAC1 HMBOX1 ZNF157 HDAC2 NR2C2 YY1 ENSG00000273536 GPR182 ENSG00000258199 MYO1A RDH16 STAT6 BAZ2A HSD17B6 ENSG00000258679 lnc-HSD17B6-1
GH12J056753 Enhancer 0.7 Ensembl 0.7 +2.4 2439 2 LEF1 TCF12 EP300 CBX3 HMBOX1 TRIM28 TRIM24 NCOR1 ZNF792 TAL1 NACA RDH16 MYO1A HSD17B6 PRIM1 lnc-RBMS2-2 piR-57278 SDR9C7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HSD17B6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HSD17B6

Top Transcription factor binding sites by QIAGEN in the HSD17B6 gene promoter:
  • AP-1
  • ATF-2
  • Brachyury
  • c-Jun
  • IRF-1
  • PPAR-gamma1
  • PPAR-gamma2
  • Sp1
  • STAT3

Genomic Locations for HSD17B6 Gene

Genomic Locations for HSD17B6 Gene
chr12:56,752,161-56,787,790
(GRCh38/hg38)
Size:
35,630 bases
Orientation:
Plus strand
chr12:57,145,945-57,181,574
(GRCh37/hg19)
Size:
35,630 bases
Orientation:
Plus strand

Genomic View for HSD17B6 Gene

Genes around HSD17B6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HSD17B6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HSD17B6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSD17B6 Gene

Proteins for HSD17B6 Gene

  • Protein details for HSD17B6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14756-H17B6_HUMAN
    Recommended name:
    17-beta-hydroxysteroid dehydrogenase type 6
    Protein Accession:
    O14756
    Secondary Accessions:
    • O43275

    Protein attributes for HSD17B6 Gene

    Size:
    317 amino acids
    Molecular mass:
    35966 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAB88252.1; Type=Frameshift; Evidence={ECO:0000305};

neXtProt entry for HSD17B6 Gene

Selected DME Specific Peptides for HSD17B6 Gene

O14756:
  • GLVNNAG
  • TGCDSGFG
  • GVEAFSD
  • RVLAACLTEKGAEQLR
  • VTDCMEHALT
  • DKYVFITGCDSGFGNLLARQL

Post-translational modifications for HSD17B6 Gene

  • Glycosylation at Asn161, Asn215, and Asn256
  • Modification sites at PhosphoSitePlus

Domains & Families for HSD17B6 Gene

Gene Families for HSD17B6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for HSD17B6 Gene

InterPro:
Blocks:
  • Short-chain dehydrogenase/reductase SDR
ProtoNet:

Suggested Antigen Peptide Sequences for HSD17B6 Gene

GenScript: Design optimal peptide antigens:
  • Oxidative 3-alpha hydroxysteroid dehydrogenase (H17B6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O14756

UniProtKB/Swiss-Prot:

H17B6_HUMAN :
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Family:
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
genes like me logo Genes that share domains with HSD17B6: view

Function for HSD17B6 Gene

Molecular function for HSD17B6 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=17beta-estradiol + NAD(+) = estrone + H(+) + NADH; Xref=Rhea:RHEA:24612, ChEBI:CHEBI:15378, ChEBI:CHEBI:16469, ChEBI:CHEBI:17263, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.62;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=17beta-estradiol + NADP(+) = estrone + H(+) + NADPH; Xref=Rhea:RHEA:24616, ChEBI:CHEBI:15378, ChEBI:CHEBI:16469, ChEBI:CHEBI:17263, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.1.1.62;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=NAD(+) + testosterone = androst-4-ene-3,17-dione + H(+) + NADH; Xref=Rhea:RHEA:14929, ChEBI:CHEBI:15378, ChEBI:CHEBI:16422, ChEBI:CHEBI:17347, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.239;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=all-trans-retinol--[retinol-binding protein] + NAD(+) = all-trans-retinal--[retinol-binding protein] + H(+) + NADH; Xref=Rhea:RHEA:48488, Rhea:RHEA-COMP:14428, Rhea:RHEA-COMP:14430, ChEBI:CHEBI:15378, ChEBI:CHEBI:17336, ChEBI:CHEBI:17898, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:83228; EC=1.1.1.105;.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.19 uM for NAD {ECO:0000269|PubMed:10896656, ECO:0000269|PubMed:11360992}; KM=0.18 uM for NADH {ECO:0000269|PubMed:10896656, ECO:0000269|PubMed:11360992}; KM=54 uM for NADPH {ECO:0000269|PubMed:10896656, ECO:0000269|PubMed:11360992}; KM=940 uM for NADP {ECO:0000269|PubMed:10896656, ECO:0000269|PubMed:11360992}; KM=3.2 uM for all-trans-retinol {ECO:0000269|PubMed:10896656, ECO:0000269|PubMed:11360992}; KM=0.24 uM for allopregnanolone {ECO:0000269|PubMed:10896656, ECO:0000269|PubMed:11360992}; KM=0.13 uM for 3-alpha-androstanediol {ECO:0000269|PubMed:10896656, ECO:0000269|PubMed:11360992}; KM=0.23 uM for androsterone {ECO:0000269|PubMed:10896656, ECO:0000269|PubMed:11360992}; KM=0.13 uM for dehydroepiandrosterone {ECO:0000269|PubMed:10896656, ECO:0000269|PubMed:11360992}; Vmax=1.2 nmol/min/mg enzyme with all-trans-retinol {ECO:0000269|PubMed:10896656, ECO:0000269|PubMed:11360992}; Vmax=14.7 nmol/min/mg enzyme with allopregnanolone {ECO:0000269|PubMed:10896656, ECO:0000269|PubMed:11360992}; Vmax=16.5 nmol/min/mg enzyme with 3-alpha-androstanediol {ECO:0000269|PubMed:10896656, ECO:0000269|PubMed:11360992}; Vmax=35 nmol/min/mg enzyme with androsterone {ECO:0000269|PubMed:10896656, ECO:0000269|PubMed:11360992}; Vmax=0.90 nmol/min/mg enzyme with dehydroepiandrosterone {ECO:0000269|PubMed:10896656, ECO:0000269|PubMed:11360992}; Note=The kinetic parameters were determined using microsomes from transfected cells.;

Enzyme Numbers (IUBMB) for HSD17B6 Gene

Phenotypes From GWAS Catalog for HSD17B6 Gene

Gene Ontology (GO) - Molecular Function for HSD17B6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity TAS 9188497
GO:0004303 estradiol 17-beta-dehydrogenase activity IEA --
GO:0004745 retinol dehydrogenase activity IEA --
GO:0009055 electron transfer activity TAS 9188497
GO:0016491 oxidoreductase activity NAS 9188497
genes like me logo Genes that share ontologies with HSD17B6: view
genes like me logo Genes that share phenotypes with HSD17B6: view

Animal Model Products

CRISPR Products

miRNA for HSD17B6 Gene

miRTarBase miRNAs that target HSD17B6

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HSD17B6

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HSD17B6 Gene

Localization for HSD17B6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HSD17B6 Gene

Microsome membrane. Peripheral membrane protein. Lumenal side. Early endosome membrane. Peripheral membrane protein. Lumenal side.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HSD17B6 gene
Compartment Confidence
endoplasmic reticulum 3
endosome 3
plasma membrane 2
extracellular 2
mitochondrion 2
nucleus 2
cytosol 2
cytoskeleton 1
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (2)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HSD17B6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0016020 membrane IEA --
GO:0031090 organelle membrane IEA --
GO:0031901 early endosome membrane IEA --
genes like me logo Genes that share ontologies with HSD17B6: view

Pathways & Interactions for HSD17B6 Gene

genes like me logo Genes that share pathways with HSD17B6: view

Pathways by source for HSD17B6 Gene

1 Cell Signaling Technology pathway for HSD17B6 Gene

Gene Ontology (GO) - Biological Process for HSD17B6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006702 androgen biosynthetic process NAS 9188497
GO:0006710 androgen catabolic process TAS 9188497
GO:0008202 steroid metabolic process IEA --
GO:0022900 electron transport chain IEA --
genes like me logo Genes that share ontologies with HSD17B6: view

No data available for SIGNOR curated interactions for HSD17B6 Gene

Drugs & Compounds for HSD17B6 Gene

(13) Drugs for HSD17B6 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin A Approved, Vet_approved Nutra 685
Estradiol Approved, Investigational, Vet_approved Pharma Sex hormone 1113
Estriol Approved, Investigational, Vet_approved Pharma Agonist 0
Estrone Approved Pharma Agonist Estrogenic hormone 22
Testosterone Approved, Experimental, Investigational Pharma Endogenous androgen receptor agonist 660

(5) Additional Compounds for HSD17B6 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
11beta,17beta-Dihydroxy-4-androsten-3-one
  • 11beta-Hydroxytestosterone
  • 11b-Hydroxytestosterone
  • 11β-hydroxytestosterone
  • 11b,17b-Dihydroxy-4-androsten-3-one
  • 11β,17β-dihydroxy-4-androsten-3-one
11b-Hydroxyandrost-4-ene-3,17-dione
  • 11beta-Hydroxy-4-androstene-3,17-dione
  • 4-Androsten-11beta-ol-3,17-dione
  • Androst-4-ene-3,17-dione-11beta-ol
  • 11b-Hydroxy-4-androstene-3,17-dione
  • 11β-hydroxy-4-androstene-3,17-dione
382-44-5
16b-Hydroxyestrone
  • (16beta)-3,16-Dihydroxyestra-1,3,5(10)-trien-17-one
  • 16-Hydroxyestrone
  • 3,16-Dihydroxyestra-1,3,5(10)-trien-17-one
  • 3,16beta-Dihydroxy-estra-1,3,5(10)-trien-17-one
  • (16b)-3,16-Dihydroxyestra-1,3,5(10)-trien-17-one
966-06-3
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
Retinal
  • (13cis)-Retinal
  • (2Z,4E,6E,8E)-3,7-Dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenal
  • 13-cis-Retinaldehyde
  • RETINAL
  • 13Z-Retinal
116-31-4, 564-87-4
genes like me logo Genes that share compounds with HSD17B6: view

Transcripts for HSD17B6 Gene

mRNA/cDNA for HSD17B6 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HSD17B6

Alternative Splicing Database (ASD) splice patterns (SP) for HSD17B6 Gene

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: - -
SP6: - - - - - - - - -
SP7: - -
SP8: -

Relevant External Links for HSD17B6 Gene

GeneLoc Exon Structure for
HSD17B6

Expression for HSD17B6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HSD17B6 Gene

mRNA differential expression in normal tissues according to GTEx for HSD17B6 Gene

This gene is overexpressed in Liver (x30.5).

Protein differential expression in normal tissues from HIPED for HSD17B6 Gene

This gene is overexpressed in Gallbladder (34.9) and Liver (25.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HSD17B6 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HSD17B6

SOURCE GeneReport for Unigene cluster for HSD17B6 Gene:

Hs.524513

mRNA Expression by UniProt/SwissProt for HSD17B6 Gene:

O14756-H17B6_HUMAN
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.

Evidence on tissue expression from TISSUES for HSD17B6 Gene

  • Liver(4.7)
  • Lung(4.4)
  • Nervous system(2.7)
  • Adrenal gland(2.4)
  • Spleen(2)
genes like me logo Genes that share expression patterns with HSD17B6: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for HSD17B6 Gene

Orthologs for HSD17B6 Gene

This gene was present in the common ancestor of animals.

Orthologs for HSD17B6 Gene

Organism Taxonomy Gene Similarity Type Details
Dog
(Canis familiaris)
Mammalia HSD17B6 30 31
  • 85.38 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HSD17B6 30 31
  • 85.38 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Hsd17b6 30 17 31
  • 77.95 (n)
OneToOne
Chicken
(Gallus gallus)
Aves -- 31
  • 56 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 63 (a)
ManyToMany
-- 31
  • 63 (a)
ManyToMany
-- 31
  • 61 (a)
ManyToMany
-- 31
  • 61 (a)
ManyToMany
-- 31
  • 60 (a)
ManyToMany
-- 31
  • 60 (a)
ManyToMany
-- 31
  • 60 (a)
ManyToMany
-- 31
  • 56 (a)
ManyToMany
Zebrafish
(Danio rerio)
Actinopterygii dhrs9 31
  • 48 (a)
OneToMany
-- 30
Worm
(Caenorhabditis elegans)
Secernentea dhs-20 30
  • 50 (n)
Species where no ortholog for HSD17B6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for HSD17B6 Gene

ENSEMBL:
Gene Tree for HSD17B6 (if available)
TreeFam:
Gene Tree for HSD17B6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HSD17B6: view image

Paralogs for HSD17B6 Gene

(7) SIMAP similar genes for HSD17B6 Gene using alignment to 3 proteins:

  • H17B6_HUMAN
  • G3V3Y9_HUMAN
  • G3V508_HUMAN

Pseudogenes.org Pseudogenes for HSD17B6 Gene

genes like me logo Genes that share paralogs with HSD17B6: view

Variants for HSD17B6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HSD17B6 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
716329 Benign: not provided 56,774,089(+) G/A SYNONYMOUS_VARIANT
778447 Likely Benign: not provided 56,773,876(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for HSD17B6 Gene

Structural Variations from Database of Genomic Variants (DGV) for HSD17B6 Gene

Variant ID Type Subtype PubMed ID
esv2667772 CNV deletion 23128226
esv3580281 CNV loss 25503493
esv3580282 CNV loss 25503493
esv3629600 CNV loss 21293372
nsv482992 CNV gain+loss 15286789
nsv826382 CNV gain 20364138

Variation tolerance for HSD17B6 Gene

Residual Variation Intolerance Score: 74.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.45; 28.46% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HSD17B6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HSD17B6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSD17B6 Gene

Disorders for HSD17B6 Gene

MalaCards: The human disease database

(2) MalaCards diseases for HSD17B6 Gene - From: DISEASES

Disorder Aliases PubMed IDs
anthracosilicosis
hypotrichosis 2
  • hypt2
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for HSD17B6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with HSD17B6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HSD17B6 Gene

Publications for HSD17B6 Gene

  1. Expression cloning and characterization of oxidative 17beta- and 3alpha-hydroxysteroid dehydrogenases from rat and human prostate. (PMID: 9188497) Biswas MG … Russell DW (The Journal of biological chemistry 1997) 3 4 23
  2. Family-based analysis of candidate genes for polycystic ovary syndrome. (PMID: 20200332) Ewens KG … Spielman RS (The Journal of clinical endocrinology and metabolism 2010) 3 41
  3. Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists. (PMID: 20526338) Johnson AD … Becker LC (Nature genetics 2010) 3 41
  4. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B … Oppermann U (Chemico-biological interactions 2009) 2 3
  5. Independent confirmation of association between metabolic phenotypes of polycystic ovary syndrome and variation in the type 6 17beta-hydroxysteroid dehydrogenase gene. (PMID: 19837928) Jones MR … Goodarzi MO (The Journal of clinical endocrinology and metabolism 2009) 3 41

Products for HSD17B6 Gene

  • Signalway Proteins for HSD17B6

Sources for HSD17B6 Gene