UGT2B17 - UDP glucuronosyltransferase family 2 member B17 Gene

Also Known as BMND12; UDPGT2B17

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 7367

About UGT2B17

Cytogenetic location: 4q13.2 Genomic coordinates (GRCh38): 4:68,537,173-68,576,322 (from NCBI)

This gene has 2 transcripts (splice variants), 1222 orthologues, 21 paralogues and is associated with 1 phenotype. Biased expression in small intestine (RPKM 270.0), colon (RPKM 223.4) and 4 other tissues.

Summary

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]

UGT2B17 Products (1)

mRNA Protein Name
NM_001077.4 NP_001068.1 UDP-glucuronosyltransferase 2B17 precursor
Molecular Function GO Annotation Evidence References Source
enables glucuronosyltransferase activity IDA
IDA: Inferred from direct assay
18719240 GOA
NOT enables retinoic acid binding IDA
IDA: Inferred from direct assay
20308471 GOA
Biological Process GO Annotation Evidence References Source
involved in cellular glucuronidation IDA
IDA: Inferred from direct assay
18719240 GOA
involved in estrogen metabolic process IDA
IDA: Inferred from direct assay
18719240 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

UGT2B17 Protein Structure

UDPGT

UDPGT: UDP-glucoronosyl and UDP-glucosyl transferase (24 - 527)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 530 a.a.
Protein Preferred Names Protein Names

UDP-glucuronosyltransferase 2B17

  • C19-steroid-specific UDP-glucuronosyltransferase

Related Diseases

Diseases Alias
Bone Mineral Density Quantitative Trait Locus 12
  • BMND12

  • Bone Mineral Density Qtl 12, Osteoporosis

Osteoporosis
  • Postmenopausal Osteoporosis

  • Osteoporosis, Postmenopausal

  • Bone Mineral Density Quantitative Trait Locus

  • Bmnd

  • Osteoporosis, Involutional

  • Osteoporosis, Susceptibility To

  • Osteoporosis, Postmenopausal, Susceptibility

  • Bone Mineral Density Variation Qtl, Osteoporosis

  • OSTEOP

  • Involutional Osteoporosis

  • Senile Osteoporosis

  • Osteoporosis Postmenopausal

  • Bone Mineral Density, Quantitative Trait Locus

  • Osteoporosis, Senile

  • Idiopathic Osteoporosis

  • Bone Rarefaction Nos

  • Type 1 Osteoporosis

Inflammatory Bowel Disease 19
  • Inflammatory Bowel Disease 19

  • IBD19

  • Bowel Disease, Inflammatory, Type 19

Prostate Cancer
  • Prostate Carcinoma

  • Prostate Cancer, Familial

  • Prostate Neoplasm

  • Prostate Cancer, Somatic

  • Prostate Cancer, Susceptibility To

  • Prostatic Cancer

  • Prostatic Neoplasms

  • Hereditary Prostate Cancer

  • Prostatic Neoplasm

  • Cancer Of Prostate

  • Carcinoma Of Prostate

  • Familial Prostate Cancer

  • Familial Prostate Carcinoma

  • Malignant Tumor Of Prostate

  • Malignant Neoplasm Of Prostate

  • Prostate Cancer, Familial, Susceptibility To

  • Malignant Tumor Of The Prostate

  • Ngp - New Growth Of Prostate

  • Tumor Of The Prostate

  • Prostate Cancer, Hereditary

  • Cancer Of The Prostate

  • Malignant Neoplasm Of The Prostate

  • Prostatic Carcinoma

  • PC

  • Prca

  • Cancer, Prostate

  • Malignant Prostatic Tumour

  • Malignant Tumour Of Prostate

  • Primary Prostate Cancer

  • Primary Malignant Neoplasm Of Prostate

  • Prostate Gland Cancer

Gilbert Syndrome
  • Gilbert Disease

  • Gilbert'S Disease

  • Gilbert'S Syndrome

  • Cholemia, Familial

  • Familial Nonhemolytic Jaundice

  • Meulengracht Syndrome

  • Gilbert Syndrome, Susceptibility To

  • Hyperbilirubinemia, Gilbert Type

  • Hblrg

  • Hyperbilirubinemia, Arias Type

  • Hyperbilirubinemia I

  • Constitutional Hyperbilirubinemia

  • Gilbert-Meulengracht Syndrome

  • Hereditary Nonhemolytic Jaundice

  • Hyperbilirubinemia Arias Type

  • Hyperbilirubinemia Type 1

  • Constitutional Liver Dysfunction

  • Gilbert-Lereboullet Syndrome

  • Hyperbilirubinemia 1

  • Unconjugated Benign Bilirubinemia

  • GILBS

  • Gilberts Syndrome

  • Familial Nonhaemolytic Jaundice

  • Constitutional Hyperbilirubinaemia

  • Hereditary Nonhaemolytic Bilirubinaemia

  • Familial Nonhaemolytic Bilirubinaemia

  • Idiopathic Hyperbilirubinaemia

  • Icterus Intermittens Juvenilis

  • Chronic Intermittent Juvenile Jaundice

  • Low-Grade Chronic Hyperbilirubinaemia Syndrome

  • Benign Unconjugated Bilirubinaemia Syndrome

  • Hereditary Nonhaemolytic Jaundice

  • Idiopathic Unconjugated Hyperbilirubinaemia

  • Gilbert--Lereboullet Syndrome

  • Constitutional Hepatic Dysfunction

  • Meulengracht Icterus

  • Cholaemia Familiaris Simplex

  • Familial Cholaemia

  • Congenital Familial Cholaemia

  • Physiologic Cholaemia

  • Hyperbilirubinaemia Type 1

  • Gilbert Cholaemia

Crigler-Najjar Syndrome, Type I
  • Crigler-Najjar Syndrome

  • Crigler-Najjar Syndrome Type 1

  • Bilirubin Udp Glucuronyl Transferase Deficiency

  • Crigler Najjar Syndrome

  • Crigler Najjar Syndrome, Type 1

  • Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency

  • Bilirubin-Ugt Deficiency

  • Hyperbilirubinemia, Crigler-Najjar Type I

  • Hblrcn1

  • Familial Nonhemolytic Unconjugated Hyperbilirubinemia

  • Hereditary Unconjugated Hyperbilirubinemia

  • Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Type 1

  • Bilirubin-Ugt Deficiency Type 1

  • Crigler-Najjar Syndrome 1

  • CN1

  • Cn-I

  • Crigler-Najjar Syndrome Type I

  • Hereditary Unconjugated Hyperbilirubinaemia

  • Ugt Deficiency

  • Bilirubin Glucuronosyltransferase Deficiency

  • Crigler-Najjar Disease Or Syndrome

  • Deficiency Of Glucuronosyltransferase

  • Glucuronyl Transferase Deficiency

  • Glucuronyltransferase Deficiency

  • Udp Glucuronyl Transferase Deficiency

  • Cns - [Crigler-Najjar Syndrome]

  • Congenital Familial Nonhemolytic Jaundice

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus UGT2B17 MGD MGI:1919023
Rattus norvegicus UGT2B17 RGD RGD:708541