1. Gene
  2. UGT2B7 - UDP glucuronosyltransferase family 2 member B7 Gene

UGT2B7 - UDP glucuronosyltransferase family 2 member B7 Gene

中文名称:UDP 葡萄糖醛酸转移酶家族 2 成员 B7

种属: Homo sapiens

同用名: UGT2B9; UDPGTH2; UDPGT2B7; UDPGTh-2; UDPGT 2B7; UDPGT 2B9

基因 ID: 7364 | 基因类型: protein coding

关于 UGT2B7

Cytogenetic location: 4q13.2 Genomic coordinates (GRCh38): 4:69,051,375-69,112,987 (from NCBI)

This gene has 5 transcripts (splice variants), 1241 orthologues and 21 paralogues. Biased expression in kidney (RPKM 335.9), liver (RPKM 240.7) and 2 other tissues.

功能概要

该基因编码的蛋白质属于 UDP-糖基转移酶 (UGT) 家族。 UGT 在潜在毒性异生物质和内源性化合物的结合和随后的消除中起着重要作用。这种蛋白质定位于微粒体膜,对 3,4-儿茶酚雌激素和雌三醇具有独特的特异性,表明它可能在调节这些有效雌激素代谢物的水平和活性方面发挥重要作用。可变剪接导致多个转录本变体。[RefSeq 提供,2017 年 3 月]

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]

UGT2B7 基因产物(3)

mRNA Protein Name
NM_001074.4 NP_001065.2 UDP-glucuronosyltransferase 2B7 isoform 1 precursor
NM_001330719.2 NP_001317648.1 UDP-glucuronosyltransferase 2B7 isoform 2 precursor
NM_001349568.2 NP_001336497.1 UDP-glucuronosyltransferase 2B7 isoform 3
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
17442341 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 androgen metabolic process IDA
IDA: 通过直接分析推断
17442341 GOA
involved in cellular glucuronidation IDA
IDA: 通过直接分析推断
17442341 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

UGT2B7 蛋白结构

UDPGT

UDPGT: UDP-glucoronosyl and UDP-glucosyl transferase (24 - 525)

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  • 500
  • 529 a.a.
蛋白主名 其他名称

UDP-glucuronosyltransferase 2B7

3,4-catechol estrogen specific

关联疾病

疾病名称 别名
Hepatocellular Adenoma

Adenoma Hepatocellular

Neonatal Abstinence Syndrome

Drug Withdrawal Syndrome In Newborn

Neonatal Candidiasis

Neonatal Candida Infection

Neonatal Monilia Infection

Neonatal Moniliasis

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

Severe Cutaneous Adverse Reaction

Stevens-Johnson Syndrome

Toxic Epidermal Necrolysis

Drug-Induced Stevens Johnson Syndrome

Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum

Susceptibility To Severe Cutaneous Adverse Reaction

Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis

Lyell'S Syndrome

Lyell Syndrome

Severe Cutaneous Adverse Reaction, Susceptibility To

Hypersensitivity Syndrome, Carbamazepine-Induced, Susceptibility To

Hypersensitivity Syndrome, Carbamazepine-Induced

Stevens-Johnson Syndrome, Susceptibility To

Toxic Epidermal Necrolysis, Susceptibility To

Sjs/Ten

Susceptibility To Severe Cutaneous Adverse Reaction Ity To

Mycoplasma-Induced Stevens Johnson Syndrome

Dermatostomatitis, Stevens Johnson Type

Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum

Sjs-Ten

Toxic Epidermolysis

SJS

Dermatostomatitis Stevens Johnson Type

Ten

Sjs/Ten - [Stevens-Johnson Syndrome And Toxic Epidermal Necrolysis]

Ten - [Toxic Epidermal Necrolysis]

Bilirubin Metabolic Disorder

Hyperbilirubinemia

Hereditary Hyperbilirubinemia

Hyperbilirubinemia, Hereditary

Hyperbilirubinaemia

Lennox-Gastaut Syndrome

Lennox Syndrome

Encephalopathy Of Childhood

Epileptic Encephalopathy Lennox-Gastaut Type

Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves

Lgs

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
Rattus norvegicus UGT2B7 RGD RGD:708417