• Gene id: 7367

Gene Summary

• Gene Symbol: UGT2B17   Gene   UCSC   Ensembl
• Aliases: BMND12, UDPGT2B17
• Gene name: UDP glucuronosyltransferase family 2 member B17
• Alternate names: UDP-glucuronosyltransferase 2B17, C19-steroid-specific UDP-glucuronosyltransferase, C19-steroid-specific UDPGT, UDP glucuronosyltransferase 2 family, polypeptide B17, UDP glycosyltransferase 2 family, member B17, UDP-glucuronyltransferase, family 2, beta-17,
• Gene location: 4q13.2 (68576353: 68537183)     Exons: 7     NC_000004.12
• Gene summary(Entrez): 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 l
• OMIM: 124450

Protein Summary

• Protein general information: O75795  
  • Name: UDP glucuronosyltransferase 2B17 (UDPGT 2B17) (EC 2.4.1.17) (C19 steroid specific UDP glucuronosyltransferase) (C19 steroid specific UDPGT)
  • Length: 530  
  • Mass: 61095
  • Tissue specificity: Expressed in various tissues including the liver, kidney, testis, uterus, placenta, mammary gland, adrenal gland, skin and prostate.
• Sequence:

  MSLKWMSVFLLMQLSCYFSSGSCGKVLVWPTEYSHWINMKTILEELVQRGHEVIVLTSSASILVNASKSSAIKLE
  VYPTSLTKNDLEDFFMKMFDRWTYSISKNTFWSYFSQLQELCWEYSDYNIKLCEDAVLNKKLMRKLQESKFDVLL
  ADAVNPCGELLAELLNIPFLYSLRFSVGYTVEKNGGGFLFPPSYVPVVMSELSDQMIFMERIKNMIYMLYFDFWF
  QAYDLKKWDQFYSEVLGRPTTLFETMGKAEMWLIRTYWDFEFPRPFLPNVDFVGGLHCKPAKPLPKEMEEFVQSS
  GENGIVVFSLGSMISNMSEESANMIASALAQIPQKVLWRFDGKKPNTLGSNTRLYKWLPQNDLLGHPKTKAFITH
  GGTNGIYEAIYHGIPMVGIPLFADQHDNIAHMKAKGAALSVDIRTMSSRDLLNALKSVINDPIYKENIMKLSRIH
  HDQPVKPLDRAVFWIEFVMRHKGAKHLRVAAHNLTWIQYHSLDVIAFLLACVATMIFMITKCCLFCFRKLAKTGK
  KKKRD

• Structural information:
  • Interpro: IPR002213  IPR035595  
  • Prosite: PS00375
  • STRING: ENSP00000320401
• Other Databases: GeneCards:  UGT2B17  Malacards:  UGT2B17

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:0008194	UDP-glycosyltransferase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0008202	steroid metabolic process	TAS	biological process
GO:0016020	membrane	TAS	cellular component
GO:0015020	glucuronosyltransferase activity	IEA	molecular function
GO:0001972	retinoic acid binding	IDA	NOT|molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0031090	organelle 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
Osteoporosis	KEGG:H01593
Osteoporosis	KEGG:H01593
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881