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Aliases for UGT2B17 Gene

Aliases for UGT2B17 Gene

  • UDP Glucuronosyltransferase Family 2 Member B17 2 3 5
  • C19-Steroid-Specific UDP-Glucuronosyltransferase 3 4
  • C19-Steroid-Specific UDPGT 3 4
  • EC 2.4.1.17 4 56
  • UDP Glucuronosyltransferase 2 Family, Polypeptide B17 3
  • UDP Glycosyltransferase 2 Family, Polypeptide B17 2
  • UDP Glycosyltransferase 2 Family, Member B17 3
  • UDP-Glucuronyltransferase, Family 2, Beta-17 3
  • UDP-Glucuronosyltransferase 2B17 3
  • UDPGT 2B17 4
  • UDPGT2B17 3
  • EC 2.4.1 56
  • BMND12 3

External Ids for UGT2B17 Gene

Previous GeneCards Identifiers for UGT2B17 Gene

  • GC04U990053
  • GC04M069386
  • GC04M069406
  • GC04M069231
  • GC04M069085

Summaries for UGT2B17 Gene

Entrez Gene Summary for UGT2B17 Gene

  • This gene encodes a member of the uridine diphosphoglucuronosyltransferase protein family. The encoded enzyme catalyzes the transfer of glucuronic acid from uridine diphosphoglucuronic acid to a diverse array of substrates including steroid hormones and lipid-soluble drugs. This process, known as glucuronidation, is an intermediate step in the metabolism of steroids. Copy number variation in this gene is associated with susceptibility to osteoporosis.[provided by RefSeq, Apr 2010]

GeneCards Summary for UGT2B17 Gene

UGT2B17 (UDP Glucuronosyltransferase Family 2 Member B17) is a Protein Coding gene. Diseases associated with UGT2B17 include Bone Mineral Density Quantitative Trait Locus 12 and Osteoporosis. Among its related pathways are Drug metabolism - cytochrome P450 and Metabolism. Gene Ontology (GO) annotations related to this gene include carbohydrate binding and glucuronosyltransferase activity. An important paralog of this gene is UGT2B15.

UniProtKB/Swiss-Prot for UGT2B17 Gene

  • UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. The major substrates of this isozyme are eugenol > 4-methylumbelliferone > dihydrotestosterone (DHT) > androstane-3-alpha,17-beta-diol (3-alpha-diol) > testosterone > androsterone (ADT).

Gene Wiki entry for UGT2B17 Gene

Additional gene information for UGT2B17 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UGT2B17 Gene

Genomics for UGT2B17 Gene

GeneHancer (GH) Regulatory Elements for UGT2B17 Gene

Promoters and enhancers for UGT2B17 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
GH04I068568 Promoter 0.5 EPDnew 550.8 +0.1 65 0.1 UGT2B17 UGT2B29P
GH04I068655 Enhancer 0.8 ENCODE 5.1 -88.7 -88719 3 ELF3 FOXA2 RAD21 RARA YY1 IKZF2 CREM THAP11 MIXL1 SP5 UGT2B17 UGT2B15 LOC728807
GH04I068724 Enhancer 0.2 FANTOM5 17.1 -156.2 -156216 0.2 UGT2B17 UGT2A3 UGT2B15 LOC728811 LOC100422026
GH04I068451 Enhancer 0.4 ENCODE 8.5 +116.4 116448 1.2 POU5F1 NFE2 FOS GC04P068452 UGT2B17 TMPRSS11E
GH04I068464 Enhancer 0.5 ENCODE 6.2 +102.9 102876 3.1 GATA3 FOSL2 DPF2 MNT FOS FOXA1 UGT2B17 GC04P068452 TMPRSS11E UGT2B29P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around UGT2B17 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the UGT2B17 gene promoter:

Genomic Locations for UGT2B17 Gene

Genomic Locations for UGT2B17 Gene
chr4:68,537,184-68,568,527
(GRCh38/hg38)
Size:
31,344 bases
Orientation:
Minus strand
chr4:69,402,902-69,434,245
(GRCh37/hg19)

Genomic View for UGT2B17 Gene

Genes around UGT2B17 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UGT2B17 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UGT2B17 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UGT2B17 Gene

Proteins for UGT2B17 Gene

  • Protein details for UGT2B17 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75795-UDB17_HUMAN
    Recommended name:
    UDP-glucuronosyltransferase 2B17
    Protein Accession:
    O75795

    Protein attributes for UGT2B17 Gene

    Size:
    530 amino acids
    Molecular mass:
    61095 Da
    Quaternary structure:
    No Data Available

neXtProt entry for UGT2B17 Gene

Selected DME Specific Peptides for UGT2B17 Gene

O75795:
  • DLLNALK
  • AFITHGG
  • HKGAKHLR
  • LLGHPKT
  • PQNDLLGHP
  • FVQSSGE
  • KPLDRAVFWIE
  • NMKTILEELV
  • LSRIHHDQP
  • VMRHKGA
  • YWDFEFPRP
  • AAHNLTW
  • YEAIYHG
  • CGKVLVW
  • QYHSLDV
  • FVGGLHC
  • KKWDQFYSEVLGRPTTL
  • KTILEEL
  • PPSYVPV
  • FLLACVA
  • IPQKVLW
  • NTRLYKW
  • KLQESKFD
  • ERIKNMI

Post-translational modifications for UGT2B17 Gene

  • Glycosylation at isoforms=65, isoforms=316, and isoforms=483
  • Modification sites at PhosphoSitePlus

Other Protein References for UGT2B17 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for UGT2B17 Gene

Gene Families for UGT2B17 Gene

Protein Domains for UGT2B17 Gene

Suggested Antigen Peptide Sequences for UGT2B17 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O75795

UniProtKB/Swiss-Prot:

UDB17_HUMAN :
  • Belongs to the UDP-glycosyltransferase family.
Family:
  • Belongs to the UDP-glycosyltransferase family.
genes like me logo Genes that share domains with UGT2B17: view

Function for UGT2B17 Gene

Molecular function for UGT2B17 Gene

GENATLAS Biochemistry:
UDP-glucoronosyltransferase (B17),expressed in several extrahepatic steroid tissues,including prostate,active or C19 steroids
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-glucuronate + acceptor = UDP + acceptor beta-D-glucuronoside.
UniProtKB/Swiss-Prot Function:
UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. The major substrates of this isozyme are eugenol > 4-methylumbelliferone > dihydrotestosterone (DHT) > androstane-3-alpha,17-beta-diol (3-alpha-diol) > testosterone > androsterone (ADT).

Enzyme Numbers (IUBMB) for UGT2B17 Gene

Gene Ontology (GO) - Molecular Function for UGT2B17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001972 NOT retinoic acid binding IDA 20308471
GO:0015020 glucuronosyltransferase activity IEA,IDA 22579593
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0016758 transferase activity, transferring hexosyl groups IEA --
genes like me logo Genes that share ontologies with UGT2B17: view

Phenotypes for UGT2B17 Gene

genes like me logo Genes that share phenotypes with UGT2B17: view

Animal Model Products

miRNA for UGT2B17 Gene

Inhibitory RNA Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for UGT2B17 Gene

Localization for UGT2B17 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UGT2B17 Gene

Microsome membrane; Single-pass membrane protein. Endoplasmic reticulum membrane; Single-pass membrane protein.

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 UGT2B17 gene
Compartment Confidence
endoplasmic reticulum 3
peroxisome 2
golgi apparatus 2
plasma membrane 1
extracellular 1
cytosol 1

Gene Ontology (GO) - Cellular Components for UGT2B17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane TAS 8798464
GO:0016021 integral component of membrane IEA --
GO:0031090 organelle membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IBA --
genes like me logo Genes that share ontologies with UGT2B17: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for UGT2B17 Gene

Pathways & Interactions for UGT2B17 Gene

genes like me logo Genes that share pathways with UGT2B17: view

Pathways by source for UGT2B17 Gene

Gene Ontology (GO) - Biological Process for UGT2B17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process IEA --
GO:0008202 steroid metabolic process TAS 8798464
GO:0052695 cellular glucuronidation IDA 22579593
genes like me logo Genes that share ontologies with UGT2B17: view

No data available for SIGNOR curated interactions for UGT2B17 Gene

Drugs & Compounds for UGT2B17 Gene

(21) Drugs for UGT2B17 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Testosterone Approved, Investigational Pharma Endogenous androgen receptor agonist 594
Losartan Approved Pharma Antagonist, Enzyme, substrate 295
Codeine Approved, Illicit Pharma Full agonist, Agonist 83
Estradiol Approved, Investigational, Vet_approved Pharma Sex hormone 1400
Estriol Approved, Investigational, Vet_approved Pharma Agonist 0

(88) Additional Compounds for UGT2B17 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
4-(Methylnitrosamino)-1-(3-pyridyl)-1-butanol
  • NNAL
76014-81-8
(23S)-23,25-dihdroxy-24-oxovitamine D3 23-(beta-glucuronide)
  • (23S)-23,25-dihdroxy-24-oxovitamine D3 23-(beta-glucuronoside)
  • (23S)-23,25-dihydroxy-24-oxocholecalciferol 23-(beta-glucuronide)
  • (23S)-23,25-dihydroxy-24-oxovitamin D3 23-(beta-glucuronide)
  • (5Z,7E)-(3S,23S)-24-oxo-9,10-seco-5,7,10(19)-cholestatriene-3,23,25-triol 23-D-glucuronide
  • (5Z,7E)-(3S,23S)-24-oxo-9,10-seco-5,7,10(19)-cholestatriene-3,23,25-triol 23-delta-glucuronide
1-(alpha-Methyl-4-(2-methylpropyl)benzeneacetate)-beta-D-Glucopyranuronic acid
  • (2S,3S,4S,5R,6S)-3,4,5-trihydroxy-6-[2-[4-(2-methylpropyl)phenyl]propanoyloxy]oxane-2-carboxylic acid
  • 1-(alpha-Methyl-4-(2-methylpropyl)benzeneacetate) b-D-Glucopyranuronic acid
  • 1-(alpha-Methyl-4-(2-methylpropyl)benzeneacetate) b-delta-Glucopyranuronic acid
  • 1-(alpha-Methyl-4-(2-methylpropyl)benzeneacetate) beta-D-Glucopyranuronic acid
  • 1-(alpha-Methyl-4-(2-methylpropyl)benzeneacetate) beta-delta-Glucopyranuronic acid
115075-59-7
11-beta-Hydroxyandrosterone-3-glucuronide
  • 11-beta-Hydroxyetiocholanolone-3-glucuronide
  • 11beta-hydroxyandrosterone 3-glucuronide
11-Hydroxyprogesterone 11-glucuronide
  • 11-Hpg
  • 11-Hydroxyprogesterone 11-glucuronoside
  • 11alpha-Glucuronylprogesterone
  • 11alpha-Hydroxyprogesterone 11-glucuronide
  • 11alpha-Hydroxyprogesterone 11-glucuronoside
77710-64-6
genes like me logo Genes that share compounds with UGT2B17: view

Transcripts for UGT2B17 Gene

mRNA/cDNA for UGT2B17 Gene

(1) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(16) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for UGT2B17 Gene

UDP glucuronosyltransferase 2 family, polypeptide B17:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for UGT2B17 Gene

No ASD Table

Relevant External Links for UGT2B17 Gene

GeneLoc Exon Structure for
UGT2B17
ECgene alternative splicing isoforms for
UGT2B17

Expression for UGT2B17 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UGT2B17 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for UGT2B17 Gene

This gene is overexpressed in Colon - Transverse (x33.4) and Small Intestine - Terminal Ileum (x14.3).

Protein differential expression in normal tissues from HIPED for UGT2B17 Gene

This gene is overexpressed in Rectum (30.2), Colon (25.2), and Gallbladder (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for UGT2B17 Gene



Protein tissue co-expression partners for UGT2B17 Gene

NURSA nuclear receptor signaling pathways regulating expression of UGT2B17 Gene:

UGT2B17

SOURCE GeneReport for Unigene cluster for UGT2B17 Gene:

Hs.575083

mRNA Expression by UniProt/SwissProt for UGT2B17 Gene:

O75795-UDB17_HUMAN
Tissue specificity: Expressed in various tissues including the liver, kidney, testis, uterus, placenta, mammary gland, adrenal gland, skin and prostate.

Evidence on tissue expression from TISSUES for UGT2B17 Gene

  • Liver(4.7)
  • Intestine(2.3)
genes like me logo Genes that share expression patterns with UGT2B17: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for UGT2B17 Gene

Orthologs for UGT2B17 Gene

This gene was present in the common ancestor of animals.

Orthologs for UGT2B17 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UGT2B17 33 34
  • 98.46 (n)
dog
(Canis familiaris)
Mammalia LOC100856068 33
  • 83.14 (n)
-- 34
  • 78 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia UGT2B4 33
  • 81.12 (n)
-- 34
  • 75 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Ugt2b1 33 16
  • 77.33 (n)
Ugt2b36 34
  • 70 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Ugt2b1 33
  • 76.96 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 68 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007028 33
  • 40.67 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6475 35
  • 35 (a)
Ugt35a 35
  • 35 (a)
Ugt86Dc 35
  • 35 (a)
Ugt86Dg 35
  • 35 (a)
BEST:GH09393 35
  • 34 (a)
Ugt86Da 35
  • 34 (a)
Ugt86Dj 35
  • 34 (a)
Ugt86Di 35
  • 33 (a)
CG11289 35
  • 32 (a)
Ugt35b 35
  • 31 (a)
Ugt36Bc 35
  • 30 (a)
Ugt37a1 35
  • 30 (a)
BEST:GH06505 35
  • 29 (a)
CG15661 35
  • 29 (a)
Ugt36Ba 35
  • 29 (a)
Ugt86Dd 35
  • 29 (a)
CG10178 35
  • 28 (a)
Ugt36Bb 35
  • 28 (a)
Ugt37c1 35
  • 28 (a)
Ugt37b1 35
  • 27 (a)
Ugt86De 35
  • 26 (a)
CG10168 35
  • 25 (a)
CG17323 35
  • 25 (a)
CG5999 35
  • 25 (a)
CG5724 35
  • 24 (a)
Ugt86Dh 35
  • 24 (a)
worm
(Caenorhabditis elegans)
Secernentea M88.1 35
  • 30 (a)
F35H8.6 35
  • 28 (a)
ZC443.5 35
  • 26 (a)
AC3.2 35
  • 25 (a)
C44H9.1 35
  • 25 (a)
C17G1.3 35
  • 24 (a)
C33A12.6 35
  • 24 (a)
F01D4.1 35
  • 24 (a)
F56B3.7 35
  • 24 (a)
Y37E11AR.5 35
  • 24 (a)
ZC455.3 35
  • 24 (a)
C08B6.1 35
  • 23 (a)
T03D3.1 35
  • 23 (a)
T07C5.1a 35
  • 23 (a)
T19H12.11 35
  • 23 (a)
Species where no ortholog for UGT2B17 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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)
  • zebrafish (Danio rerio)

Evolution for UGT2B17 Gene

ENSEMBL:
Gene Tree for UGT2B17 (if available)
TreeFam:
Gene Tree for UGT2B17 (if available)

Paralogs for UGT2B17 Gene

Pseudogenes.org Pseudogenes for UGT2B17 Gene

genes like me logo Genes that share paralogs with UGT2B17: view

Variants for UGT2B17 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for UGT2B17 Gene

UDB17_HUMAN-O75795
Copy-number variation of UGT2B17 defines the bone mineral density quantitative trait locus 12 (BMND12) [MIM:612560]. Variance in bone mineral density is a susceptibility factor for osteoporotic fractures.

Sequence variations from dbSNP and Humsavar for UGT2B17 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs10000724 -- 68,547,156(-) A/G intron_variant
rs1000165226 -- 68,570,267(-) T/C upstream_transcript_variant
rs1000378999 -- 68,543,149(-) G/A intron_variant
rs10004842 -- 68,545,413(-) G/A intron_variant
rs10005524 -- 68,540,146(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for UGT2B17 Gene

Variant ID Type Subtype PubMed ID
dgv1490e212 CNV gain 25503493
dgv1491e212 CNV gain 25503493
dgv1492e212 CNV loss 25503493
dgv26n14 CNV loss 18776910
dgv49e213 CNV gain 24956385
dgv5242n100 CNV gain 25217958
dgv5243n100 CNV gain 25217958
dgv5246n100 CNV loss 25217958
dgv5247n100 CNV loss 25217958
dgv5248n100 CNV gain 25217958
dgv5249n100 CNV gain 25217958
dgv5250n100 CNV gain+loss 25217958
dgv5251n100 CNV gain 25217958
dgv5253n100 CNV gain 25217958
dgv5254n100 CNV gain 25217958
dgv5256n100 CNV gain+loss 25217958
dgv5257n100 CNV gain 25217958
dgv5258n100 CNV loss 25217958
dgv5259n100 CNV gain+loss 25217958
dgv5260n100 CNV loss 25217958
dgv5261n100 CNV gain 25217958
dgv5262n100 CNV gain+loss 25217958
dgv5263n100 CNV gain 25217958
dgv5264n100 CNV gain+loss 25217958
dgv5266n100 CNV loss 25217958
dgv5269n100 CNV gain 25217958
dgv5270n100 CNV gain+loss 25217958
dgv5271n100 CNV loss 25217958
dgv5272n100 CNV gain 25217958
dgv5273n100 CNV gain 25217958
dgv5274n100 CNV loss 25217958
dgv5275n100 CNV loss 25217958
dgv5276n100 CNV gain 25217958
dgv5277n100 CNV gain+loss 25217958
dgv5278n100 CNV gain+loss 25217958
dgv5279n100 CNV gain 25217958
dgv5280n100 CNV gain+loss 25217958
dgv5281n100 CNV loss 25217958
dgv5282n100 CNV gain+loss 25217958
dgv5283n100 CNV gain 25217958
dgv5284n100 CNV gain 25217958
dgv5285n100 CNV loss 25217958
dgv5286n100 CNV loss 25217958
dgv875n67 CNV loss 20364138
dgv876n67 CNV loss 20364138
dgv877n67 CNV loss 20364138
dgv89n17 CNV loss 16327808
dgv9102n54 CNV gain 21841781
dgv9103n54 CNV gain 21841781
dgv9104n54 CNV loss 21841781
dgv9105n54 CNV loss 21841781
dgv9106n54 CNV gain+loss 21841781
dgv9107n54 CNV loss 21841781
dgv9108n54 CNV loss 21841781
dgv9109n54 CNV loss 21841781
dgv9110n54 CNV loss 21841781
dgv91n17 CNV loss 16327808
dgv951e199 CNV deletion 23128226
esv1010584 CNV loss 20482838
esv2421501 CNV deletion 20811451
esv2669141 CNV deletion 23128226
esv2727770 CNV deletion 23290073
esv2759258 CNV gain+loss 17122850
esv28502 CNV gain 19812545
esv29960 CNV gain 18421352
esv30002 CNV gain 17803354
esv3251162 CNV deletion 24192839
esv33605 CNV loss 17666407
esv3569485 CNV loss 25503493
esv3584514 CNV gain 24956385
esv3584804 CNV loss 24956385
esv3584805 CNV loss 24956385
esv3600873 CNV loss 21293372
esv3600874 CNV loss 21293372
esv3600875 CNV loss 21293372
esv3893940 CNV gain+loss 25118596
esv3893941 CNV loss 25118596
esv3893944 CNV gain+loss 25118596
esv3893946 CNV gain+loss 25118596
nsv1002161 CNV gain+loss 25217958
nsv1012787 CNV gain+loss 25217958
nsv1013329 CNV gain 25217958
nsv10516 CNV gain 18304495
nsv1074723 CNV deletion 25765185
nsv1122086 CNV deletion 24896259
nsv1161106 CNV deletion 26073780
nsv436941 CNV loss 16327808
nsv442910 CNV loss 18776908
nsv511249 CNV loss 21212237
nsv514223 CNV loss 21397061
nsv594519 CNV loss 21841781
nsv594550 CNV gain 21841781
nsv594551 CNV loss 21841781
nsv820369 CNV deletion 20802225
nsv822582 CNV loss 20364138
nsv822592 CNV loss 20364138
nsv950048 CNV deletion 24416366
nsv964054 CNV duplication 23825009
nsv980210 CNV duplication 23825009

Variation tolerance for UGT2B17 Gene

Residual Variation Intolerance Score: 94.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.34; 53.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UGT2B17 Gene

Human Gene Mutation Database (HGMD)
UGT2B17
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UGT2B17

Disorders for UGT2B17 Gene

MalaCards: The human disease database

(3) MalaCards diseases for UGT2B17 Gene - From: HGMD, OMIM, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
bone mineral density quantitative trait locus 12
  • bmnd12
osteoporosis
  • bone mineral density quantitative trait locus; bmnd
prostate cancer
  • prostate cancer, susceptibility to
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for UGT2B17

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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No data available for UniProtKB/Swiss-Prot and Genatlas for UGT2B17 Gene

Publications for UGT2B17 Gene

  1. Genome-wide copy-number-variation study identified a susceptibility gene, UGT2B17, for osteoporosis. (PMID: 18992858) Yang TL … Deng HW (American journal of human genetics 2008) 3 4 22 44 58
  2. Chromosomal localization, structure, and regulation of the UGT2B17 gene, encoding a C19 steroid metabolizing enzyme. (PMID: 9364925) Beaulieu M … Hum DW (DNA and cell biology 1997) 3 4 22 25 58
  3. Isolation and characterization of a novel cDNA encoding a human UDP-glucuronosyltransferase active on C19 steroids. (PMID: 8798464) Beaulieu M … Bélanger A (The Journal of biological chemistry 1996) 2 3 4 22 58
  4. Substantial advantage of a combined Bayesian and genotyping approach in testosterone doping tests. (PMID: 19056415) Schulze JJ … Rane A (Steroids 2009) 3 22 44 58
  5. A common deletion in the uridine diphosphate glucuronyltransferase (UGT) 2B17 gene is a strong determinant of androgen excretion in healthy pubertal boys. (PMID: 19088161) Juul A … Ottesen AM (The Journal of clinical endocrinology and metabolism 2009) 3 22 44 58

Products for UGT2B17 Gene

Sources for UGT2B17 Gene

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