1. Gene
  2. UGT2B17 - UDP glucuronosyltransferase family 2 member B17 Gene

UGT2B17 - UDP glucuronosyltransferase family 2 member B17 Gene

中文名称:UDP 葡萄糖醛酸转移酶家族 2 成员 B17

种属: Homo sapiens

同用名: BMND12; UDPGT2B17

基因 ID: 7367 | 基因类型: protein coding

关于 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.

功能概要

该基因编码尿苷二磷酸葡糖醛酸转移酶蛋白家族的成员。编码的酶催化葡萄糖醛酸从尿苷二磷酸葡萄糖醛酸转移到多种底物,包括类固醇激素和脂溶性药物。这个过程称为葡萄糖醛酸化,是类固醇代谢的中间步骤。该基因的拷贝数变异与骨质疏松症的易感性有关。[RefSeq 提供,2010 年 4 月]

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 基因产物(1)

mRNA Protein Name
NM_001077.4 NP_001068.1 UDP-glucuronosyltransferase 2B17 precursor
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables glucuronosyltransferase activity IDA
IDA: 通过直接分析推断
18719240 GOA
NOT enables retinoic acid binding IDA
IDA: 通过直接分析推断
20308471 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular glucuronidation IDA
IDA: 通过直接分析推断
18719240 GOA
involved in estrogen metabolic process IDA
IDA: 通过直接分析推断
18719240 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

UGT2B17 蛋白结构

UDPGT

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

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 530 a.a.
蛋白主名 其他名称

UDP-glucuronosyltransferase 2B17

C19-steroid-specific UDP-glucuronosyltransferase

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Mus musculus UGT2B17 MGD MGI:1919023
Rattus norvegicus UGT2B17 RGD RGD:708541