• Gene id: 7364

Gene Summary

• Gene Symbol: UGT2B7   Gene   UCSC   Ensembl
• Aliases: UDPGT 2B7, UDPGT 2B9, UDPGT2B7, UDPGTH2, UDPGTh-2, UGT2B9
• Gene name: UDP glucuronosyltransferase family 2 member B7
• Alternate names: UDP-glucuronosyltransferase 2B7, 3,4-catechol estrogen specific, 3,4-catechol estrogen-specific UDPGT, UDP glucuronosyltransferase 2 family, polypeptide B7, UDP-glucuronosyltransferase 2B9, UDP-glucuronyltransferase, family 2, beta-7,
• Gene location: 4q13.2 (69051263: 69112986)     Exons: 8     NC_000004.12
• Gene summary(Entrez): 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 microso
• OMIM: 600068

SNPs

rs1399645

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.139390262C>G
NC_000002.12   g.139390262C>T
NC_000002.11   g.140147832C>G
NC_000002.11   g.140147832C>T|SEQ=[C/G/T]|GENE=LOC105373644

rs2063802

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.139384878G>A
NC_000002.12   g.139384878G>C
NC_000002.11   g.140142448G>A
NC_000002.11   g.140142448G>C|SEQ=[G/A/C]|GENE=LOC105373644

Protein Summary

• Protein general information: P16662  
  • Name: UDP glucuronosyltransferase 2B7 (UDPGT 2B7) (EC 2.4.1.17) (3,4 catechol estrogen specific UDPGT) (UDP glucuronosyltransferase 2B9) (UDPGT 2B9) (UDPGTh 2)
  • Length: 529  
  • Mass: 60721
• Sequence:

  MSVKWTSVILLIQLSFCFSSGNCGKVLVWAAEYSHWMNIKTILDELIQRGHEVTVLASSASILFDPNNSSALKIE
  IYPTSLTKTELENFIMQQIKRWSDLPKDTFWLYFSQVQEIMSIFGDITRKFCKDVVSNKKFMKKVQESRFDVIFA
  DAIFPCSELLAELFNIPFVYSLSFSPGYTFEKHSGGFIFPPSYVPVVMSELTDQMTFMERVKNMIYVLYFDFWFE
  IFDMKKWDQFYSEVLGRPTTLSETMGKADVWLIRNSWNFQFPYPLLPNVDFVGGLHCKPAKPLPKEMEDFVQSSG
  ENGVVVFSLGSMVSNMTEERANVIASALAQIPQKVLWRFDGNKPDTLGLNTRLYKWIPQNDLLGHPKTRAFITHG
  GANGIYEAIYHGIPMVGIPLFADQPDNIAHMKARGAAVRVDFNTMSSTDLLNALKRVINDPSYKENVMKLSRIQH
  DQPVKPLDRAVFWIEFVMRHKGAKHLRVAAHDLTWFQYHSLDVIGFLLVCVATVIFIVTKCCLFCFWKFARKAKK
  GKND

• Structural information:
  • Interpro: IPR002213  IPR035595  
  • Prosite: PS00375
  • PDB: 2O6L
  • PDBsum: 2O6L
  • STRING: ENSP00000304811
• Other Databases: GeneCards:  UGT2B7  Malacards:  UGT2B7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0008194	UDP-glycosyltransferase activity	IBA	molecular function
GO:0052695	cellular glucuronidation	IDA	biological process
GO:0015020	glucuronosyltransferase activity	IDA	molecular function
GO:0008209	androgen metabolic process	IDA	biological process
GO:0008194	UDP-glycosyltransferase activity	IEA	molecular function
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0008202	steroid metabolic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006629	lipid metabolic process	TAS	biological process
GO:0016020	membrane	TAS	cellular component
GO:0015020	glucuronosyltransferase activity	IEA	molecular function
GO:0015020	glucuronosyltransferase activity	IDA	molecular function
GO:0015020	glucuronosyltransferase activity	IDA	molecular function
GO:0001972	retinoic acid binding	IDA	NOT|molecular function
GO:0052695	cellular glucuronidation	IDA	biological process
GO:0031090	organelle membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0052695	cellular glucuronidation	IDA	biological process
GO:0015020	glucuronosyltransferase activity	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00983	Drug metabolism - other enzymes
hsa05204	Chemical carcinogenesis
hsa00980	Metabolism of xenobiotics by cytochrome P450
hsa00982	Drug metabolism - cytochrome P450
hsa00830	Retinol metabolism
hsa00140	Steroid hormone biosynthesis
hsa00860	Porphyrin and chlorophyll metabolism
hsa00040	Pentose and glucuronate interconversions
hsa00053	Ascorbate and aldarate metabolism

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)