The protein encoded by this gene belongs to the UDP-glycosyltransferase (UGT) family. UGTs serve a major role in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This protein is localized in the microsome membrane, and has unique specificity for 3,4-catechol estrogens and estriol, suggesting that it may play an important role... See more...

Aliases for UGT2B7 Gene

Aliases for UGT2B7 Gene

  • UDP Glucuronosyltransferase Family 2 Member B7 2 3 5
  • 3,4-Catechol Estrogen-Specific UDPGT 3 4
  • UDP-Glucuronosyltransferase 2B7 3 4
  • UDP-Glucuronosyltransferase 2B9 3 4
  • EC 2.4.1.17 4 52
  • UDPGT 2B7 3 4
  • UDPGT 2B9 3 4
  • UDPGTh-2 3 4
  • UDP Glucuronosyltransferase 2 Family, Polypeptide B7 3
  • UDP Glycosyltransferase 2 Family, Polypeptide B7 2
  • UDP-Glucuronyltransferase, Family 2, Beta-7 3
  • 3,4-Catechol Estrogen Specific 3
  • UDPGT2B7 3
  • UDPGTH2 3
  • UGTB2B9 4
  • UGT2B9 3

External Ids for UGT2B7 Gene

Previous GeneCards Identifiers for UGT2B7 Gene

  • GC04P069872
  • GC04P070010
  • GC04P070166
  • GC04P070277
  • GC04P070142
  • GC04P069962
  • GC04P069917
  • GC04P065757

Summaries for UGT2B7 Gene

Entrez Gene Summary for UGT2B7 Gene

  • The protein encoded by this gene belongs to the UDP-glycosyltransferase (UGT) family. UGTs serve a major role in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This protein is localized in the microsome membrane, and has unique specificity for 3,4-catechol estrogens and estriol, suggesting that it may play an important role in regulating the level and activity of these potent estrogen metabolites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2017]

GeneCards Summary for UGT2B7 Gene

UGT2B7 (UDP Glucuronosyltransferase Family 2 Member B7) is a Protein Coding gene. Diseases associated with UGT2B7 include Hepatocellular Adenoma and Neonatal Abstinence Syndrome. Among its related pathways are Drug metabolism - cytochrome P450 and Carvedilol Pathway, Pharmacokinetics. Gene Ontology (GO) annotations related to this gene include carbohydrate binding and glucuronosyltransferase activity. An important paralog of this gene is UGT2B10.

UniProtKB/Swiss-Prot Summary for UGT2B7 Gene

  • UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds.
  • Its unique specificity for 3,4-catechol estrogens and estriol suggests it may play an important role in regulating the level and activity of these potent and active estrogen metabolites. Is also active with androsterone, hyodeoxycholic acid and tetrachlorocatechol (in vitro).

Gene Wiki entry for UGT2B7 Gene

Additional gene information for UGT2B7 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UGT2B7 Gene

Genomics for UGT2B7 Gene

GeneHancer (GH) Regulatory Elements for UGT2B7 Gene

Promoters and enhancers for UGT2B7 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
GH04J069095 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 513.7 +45.8 45752 4.8 EP300 TCF12 NCOR1 FOS KDM6A TCF7 FOXA1 SKI TEAD1 TBX3 UGT2B7 UGT2B28 ENSG00000250696 UGT2A3 piR-33135 ENSG00000248763 lnc-UGT2B28-8
GH04J069051 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE 527.9 +0.2 197 0.9 POLR2G ARNT ELF1 DRAP1 IKZF1 NR2F1 HOMEZ HDGF ZNF687 PKNOX1 UGT2B7 lnc-UGT2A3-1 piR-39781-031 LOC105377265
GH04J069053 Enhancer 1.1 Ensembl ENCODE 27.7 +5.8 5806 7.5 ZBTB40 POLR2G TEAD4 FOS ZBTB25 TEAD1 ZKSCAN8 KMT2B SIN3A KLF9 LOC105377265 UGT2B7 ENSG00000250696 UGT2B28 UGT2A3 CSN1S1 piR-39781-031 ENSG00000248763 lnc-UGT2B28-8
GH04J068946 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.8 -100.5 -100538 7.8 FOXK2 POLR2G NCOR1 KDM6A TCF7 ZBTB25 TGIF2 SKI TEAD1 ZBTB26 UGT2A3 ENSG00000250696 UGT2B7 UGT2B28 UGT2B11 UGT2B15 UGT2B10 piR-55194-259
GH04J069178 Enhancer 1 Ensembl ENCODE 9.6 +128.1 128052 1.8 SKI TEAD1 HINFP NCOR1 CREB1 FOXA2 NFIC TRIM24 SAP130 JUND ENSG00000250696 UGT2B7 UGT2B28 LOC642474 LOC101060162
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UGT2B7 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UGT2B7

Top Transcription factor binding sites by QIAGEN in the UGT2B7 gene promoter:
  • AML1a
  • C/EBPalpha
  • C/EBPbeta
  • FOXO1
  • FOXO1a
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1a
  • Pax-4a

Genomic Locations for UGT2B7 Gene

Genomic Locations for UGT2B7 Gene
chr4:69,051,249-69,112,987
(GRCh38/hg38)
Size:
61,739 bases
Orientation:
Plus strand
chr4:69,917,081-69,978,705
(GRCh37/hg19)
Size:
61,625 bases
Orientation:
Plus strand

Genomic View for UGT2B7 Gene

Genes around UGT2B7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UGT2B7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UGT2B7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UGT2B7 Gene

Proteins for UGT2B7 Gene

  • Protein details for UGT2B7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P16662-UD2B7_HUMAN
    Recommended name:
    UDP-glucuronosyltransferase 2B7
    Protein Accession:
    P16662
    Secondary Accessions:
    • B2R810
    • Q6GTW0

    Protein attributes for UGT2B7 Gene

    Size:
    529 amino acids
    Molecular mass:
    60721 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for UGT2B7 Gene

neXtProt entry for UGT2B7 Gene

Selected DME Specific Peptides for UGT2B7 Gene

P16662:
  • AFITHGG
  • HKGAKHLR
  • LLGHPKT
  • PQNDLLGHP
  • FVQSSGE
  • IFPCSELLAEL
  • CKDVVSNK
  • AAHDLTW
  • KPLDRAVFWIE
  • SHWMNIKTILDEL
  • YEAIYHG
  • RGHEVTVL
  • FVGGLHC
  • DVIGFLL
  • KKWDQFYSEVLGRPTTL
  • WIPQNDLLG
  • PPSYVPV
  • IPQKVLW
  • DQPDNIAHMK
  • THGGANG
  • DLLNALK
  • GHPKTRAFITH
  • FWLYFSQ
  • VVFSLGSMV
  • VMRHKGA
  • MTFMERV
  • CGKVLVW
  • TMSSTDL
  • QYHSLDV
  • NTRLYKW
  • ELLAELFNIP
  • ERVKNMIY

Post-translational modifications for UGT2B7 Gene

  • Glycosylation at Asn67, Asn68, and Asn315
  • Modification sites at PhosphoSitePlus

Other Protein References for UGT2B7 Gene

Domains & Families for UGT2B7 Gene

Gene Families for UGT2B7 Gene

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

Protein Domains for UGT2B7 Gene

Blocks:
  • UDP-glucoronosyl/UDP-glucosyl transferase
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for UGT2B7 Gene

GenScript: Design optimal peptide antigens:
  • UDP-glucuronosyltransferase 2B7 (Q5QKR3_HUMAN)
  • UGT2B7 protein (Q99912_HUMAN)
  • UDP-glucuronosyltransferase 2B7 (Q9HCT7_HUMAN)
  • UDPGTh-2 (UD2B7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P16662

UniProtKB/Swiss-Prot:

UD2B7_HUMAN :
  • Belongs to the UDP-glycosyltransferase family.
Family:
  • Belongs to the UDP-glycosyltransferase family.
genes like me logo Genes that share domains with UGT2B7: view

Function for UGT2B7 Gene

Molecular function for UGT2B7 Gene

UniProtKB/Swiss-Prot Function:
UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds.
UniProtKB/Swiss-Prot Function:
Its unique specificity for 3,4-catechol estrogens and estriol suggests it may play an important role in regulating the level and activity of these potent and active estrogen metabolites. Is also active with androsterone, hyodeoxycholic acid and tetrachlorocatechol (in vitro).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=glucuronate acceptor + UDP-alpha-D-glucuronate = acceptor beta-D-glucuronoside + H(+) + UDP; Xref=Rhea:RHEA:21032, ChEBI:CHEBI:15378, ChEBI:CHEBI:58052, ChEBI:CHEBI:58223, ChEBI:CHEBI:132367, ChEBI:CHEBI:132368; EC=2.4.1.17; Evidence=. ;.
GENATLAS Biochemistry:
UDP glucuronosyltransferase subfamily 2,liver specific,but expressed in kidney,pancreas and brain,conjugating bile acid,potentially involved in the overall contribution of morphine analgesia

Enzyme Numbers (IUBMB) for UGT2B7 Gene

Phenotypes From GWAS Catalog for UGT2B7 Gene

Gene Ontology (GO) - Molecular Function for UGT2B7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001972 NOT retinoic acid binding IDA 20308471
GO:0008194 UDP-glycosyltransferase activity IBA 21873635
GO:0015020 glucuronosyltransferase activity IDA,IEA 17442341
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with UGT2B7: view
genes like me logo Genes that share phenotypes with UGT2B7: view

miRNA for UGT2B7 Gene

miRTarBase miRNAs that target UGT2B7

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for UGT2B7 Gene

Localization for UGT2B7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UGT2B7 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 UGT2B7 gene
Compartment Confidence
endoplasmic reticulum 4
peroxisome 3
plasma membrane 2
extracellular 2
nucleus 2
cytosol 2
golgi apparatus 2
cytoskeleton 1
mitochondrion 1
lysosome 1

Gene Ontology (GO) - Cellular Components for UGT2B7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane TAS 2159463
GO:0016021 integral component of membrane IEA --
GO:0031090 organelle membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IBA 21873635
genes like me logo Genes that share ontologies with UGT2B7: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for UGT2B7 Gene

Pathways & Interactions for UGT2B7 Gene

PathCards logo

SuperPathways for UGT2B7 Gene

genes like me logo Genes that share pathways with UGT2B7: view

SIGNOR curated interactions for UGT2B7 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for UGT2B7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process TAS 2159463
GO:0008202 steroid metabolic process IEA --
GO:0008209 androgen metabolic process IDA 17442341
GO:0052695 cellular glucuronidation IDA 17442341
genes like me logo Genes that share ontologies with UGT2B7: view

Drugs & Compounds for UGT2B7 Gene

(109) Drugs for UGT2B7 Gene - From: DrugBank, PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Codeine Approved, Illicit Pharma Full agonist, Agonist, Enzyme, substrate 93
Morphine Approved, Investigational Pharma Full agonist, Agonist, Partial agonist, Enzyme, substrate 1340
Mycophenolate mofetil Approved, Investigational Pharma Enzyme, substrate IMPDH inhibitor 0
Valproic acid Approved, Investigational Pharma Enzyme, substrate HDAC1 inhibitor, Histone deacetylase (HDAC)inhibitors 353
Zidovudine Approved Pharma Enzyme, substrate 506

(150) Additional Compounds for UGT2B7 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Morphine-3-glucuronide
  • Morphine 3-glucuronide(minor)
  • Morphine-3beta-D-glucuronide
20290-09-9
(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
(3a,5b)-24-oxo-24-[(2-sulfoethyl)amino]cholan-3-yl-b-D-Glucopyranosiduronic acid
  • (3a,5b)-24-oxo-24-[(2-Sulfoethyl)amino]cholan-3-yl-b-D-glucopyranosiduronate
  • (3a,5b)-24-oxo-24-[(2-Sulfoethyl)amino]cholan-3-yl-beta-delta-glucopyranosiduronate
  • Taurolithocholic acid 3-glucuronide
99794-82-8
(3a,5b,7a)-23-Carboxy-7-hydroxy-24-norcholan-3-yl-b-D-Glucopyranosiduronic acid
  • Chenodeoxycholic acid 3-glucuronide
  • Chenodeoxycholic acid-3-b-D-glucuronide
  • Chenodeoxycholic acid-3-beta-delta-glucuronide
58814-71-4
(3a,5b,7a,12a)-24-[(carboxymethyl)amino]-1,12-dihydroxy-24-oxocholan-3-yl-b-D-Glucopyranosiduronic acid
  • Glycocholic acid 3-glucuronide
99794-78-2
genes like me logo Genes that share compounds with UGT2B7: view

Transcripts for UGT2B7 Gene

mRNA/cDNA for UGT2B7 Gene

3 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for UGT2B7 Gene

No ASD Table

Relevant External Links for UGT2B7 Gene

GeneLoc Exon Structure for
UGT2B7

Expression for UGT2B7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for UGT2B7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for UGT2B7 Gene

This gene is overexpressed in Liver (x29.9) and Kidney - Cortex (x19.6).

Protein differential expression in normal tissues from HIPED for UGT2B7 Gene

This gene is overexpressed in Gallbladder (33.5), Liver (19.3), and Kidney (13.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for UGT2B7 Gene



Protein tissue co-expression partners for UGT2B7 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UGT2B7

SOURCE GeneReport for Unigene cluster for UGT2B7 Gene:

Hs.654424

Evidence on tissue expression from TISSUES for UGT2B7 Gene

  • Kidney(4.9)
  • Liver(4.8)
  • Intestine(2.4)
genes like me logo Genes that share expression patterns with UGT2B7: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for UGT2B7 Gene

Orthologs for UGT2B7 Gene

This gene was present in the common ancestor of animals.

Orthologs for UGT2B7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UGT2B7 31 30
  • 99.24 (n)
OneToOne
dog
(Canis familiaris)
Mammalia -- 31
  • 81 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Ugt2b36 17 30
  • 74.46 (n)
Ugt2b35 31
  • 67 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Ugt2b15 30
  • 74.35 (n)
cow
(Bos Taurus)
Mammalia -- 31
  • 72 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 66 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Ugt86Da 32
  • 35 (a)
Ugt86Dg 32
  • 35 (a)
Ugt86Dj 32
  • 34 (a)
Ugt86Di 32
  • 34 (a)
CG6475 32
  • 34 (a)
CG15661 32
  • 34 (a)
CG11289 32
  • 33 (a)
Ugt86Dc 32
  • 33 (a)
Ugt35b 32
  • 32 (a)
BEST:GH09393 32
  • 31 (a)
Ugt37a1 32
  • 31 (a)
BEST:GH06505 32
  • 31 (a)
Ugt86Dd 32
  • 30 (a)
Ugt35a 32
  • 30 (a)
Ugt36Bc 32
  • 29 (a)
Ugt86De 32
  • 28 (a)
Ugt36Bb 32
  • 28 (a)
CG10178 32
  • 27 (a)
Ugt37b1 32
  • 26 (a)
Ugt36Ba 32
  • 26 (a)
CG10170 32
  • 25 (a)
Ugt86Dh 32
  • 25 (a)
CG17323 32
  • 25 (a)
CG5999 32
  • 25 (a)
CG5724 32
  • 23 (a)
Dot 32
  • 23 (a)
CG10168 32
  • 23 (a)
worm
(Caenorhabditis elegans)
Secernentea M88.1 32
  • 32 (a)
F39G3.1 32
  • 30 (a)
ZC443.5 32
  • 27 (a)
C08B6.1 32
  • 27 (a)
C03A7.11 32
  • 27 (a)
F35H8.6 32
  • 26 (a)
T25B9.7 32
  • 26 (a)
C44H9.1 32
  • 25 (a)
C33A12.6 32
  • 25 (a)
C10H11.4 32
  • 25 (a)
C10H11.5 32
  • 24 (a)
C08F11.8 32
  • 24 (a)
F56B3.7 32
  • 23 (a)
Y37E11AR.5 32
  • 23 (a)
T03D3.1 32
  • 23 (a)
R04B5.9 32
  • 23 (a)
T01G5.2 32
  • 23 (a)
F01D4.1 32
  • 23 (a)
T19H12.11 32
  • 22 (a)
F01D4.2 32
  • 21 (a)
Species where no ortholog for UGT2B7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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 UGT2B7 Gene

ENSEMBL:
Gene Tree for UGT2B7 (if available)
TreeFam:
Gene Tree for UGT2B7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for UGT2B7: view image

Paralogs for UGT2B7 Gene

(31) SIMAP similar genes for UGT2B7 Gene using alignment to 6 proteins:

  • UD2B7_HUMAN
  • D6RH08_HUMAN
  • E9PBP8_HUMAN
  • Q5QKR3_HUMAN
  • Q99912_HUMAN
  • Q9HCT7_HUMAN
genes like me logo Genes that share paralogs with UGT2B7: view

Variants for UGT2B7 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for UGT2B7 Gene

UD2B7_HUMAN-P16662
2 alleles have been identified: UGT2B7*1 (His-268) and UGT2B7*2 (Tyr-268). The sequence shown is that of allele UGT2B7*2.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UGT2B7 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
718812 Likely Benign: not provided 69,096,657(+) T/C MISSENSE_VARIANT,INTRON_VARIANT
767954 Benign: not provided 69,107,234(+) C/T SYNONYMOUS_VARIANT
rs12233719 - p.Ala71Ser
rs35590824 - p.Asn378Ser
rs7439366 - p.Tyr268His

Additional dbSNP identifiers (rs#s) for UGT2B7 Gene

Structural Variations from Database of Genomic Variants (DGV) for UGT2B7 Gene

Variant ID Type Subtype PubMed ID
dgv844e201 CNV deletion 23290073
esv2727775 CNV deletion 23290073
esv2759258 CNV gain+loss 17122850
esv3893952 CNV loss 25118596
nsv522091 CNV loss 19592680
nsv594582 CNV loss 21841781
nsv594583 CNV loss 21841781
nsv822595 CNV loss 20364138
nsv964059 CNV duplication 23825009
nsv999654 CNV gain 25217958

Variation tolerance for UGT2B7 Gene

Residual Variation Intolerance Score: 33.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.03; 21.09% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UGT2B7 Gene

Human Gene Mutation Database (HGMD)
UGT2B7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UGT2B7

Disorders for UGT2B7 Gene

MalaCards: The human disease database

(3) MalaCards diseases for UGT2B7 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hepatocellular adenoma
  • adenoma hepatocellular
neonatal abstinence syndrome
  • drug withdrawal syndrome in newborn
norwegian scabies
  • crusted scabies
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for UGT2B7

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with UGT2B7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UGT2B7 Gene

Publications for UGT2B7 Gene

  1. Genetic polymorphism of UDP-glucuronosyltransferase 2B7 (UGT2B7) at amino acid 268: ethnic diversity of alleles and potential clinical significance. (PMID: 11186130) Bhasker CR … Miners JO (Pharmacogenetics 2000) 3 4 23 41 54
  2. Genetic polymorphisms of MRP2 and UGT2B7 and gastrointestinal symptoms in renal transplant recipients taking mycophenolic acid. (PMID: 19730281) Yang JW … Min DI (Therapeutic drug monitoring 2009) 3 23 41 54
  3. UGT1A9 -275T>A/-2152C>T polymorphisms correlate with low MPA exposure and acute rejection in MMF/tacrolimus-treated kidney transplant patients. (PMID: 19494809) van Schaik RH … van Gelder T (Clinical pharmacology and therapeutics 2009) 3 23 41 54
  4. CYP2B6, CYP2A6 and UGT2B7 genetic polymorphisms are predictors of efavirenz mid-dose concentration in HIV-infected patients. (PMID: 19779319) Kwara A … Court MH (AIDS (London, England) 2009) 3 23 41 54
  5. Genetic variations in UGT1A1 and UGT2B7 and endometrial cancer risk. (PMID: 19352303) McGrath M … De Vivo I (Pharmacogenetics and genomics 2009) 3 23 41 54

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