1. Gene
  2. UGT2A2 - UDP glucuronosyltransferase family 2 member A2 Gene

UGT2A2 - UDP glucuronosyltransferase family 2 member A2 Gene

中文名称:UDP 葡萄糖醛酸转移酶家族 2 成员 A2

种属: Homo sapiens

同用名: UDPGT 2A2

基因 ID: 574537 | 基因类型: protein coding

关于 UGT2A2

Cytogenetic location: 4q13.3 Genomic coordinates (GRCh38): 4:69,588,417-69,639,642 (from NCBI)

This gene has 2 transcripts (splice variants), 1154 orthologues and 21 paralogues. Biased expression in kidney (RPKM 3.0), liver (RPKM 2.9) and 1 other tissue.

功能概要

该基因编码的蛋白质属于 UDP-糖基转移酶家族。这个蛋白质家族的成员在结合和随后消除潜在有毒的外源性化合物和内源性化合物中发挥作用。编码的酶在嗅觉神经上皮细胞中表达,嗅觉神经上皮细胞排列在后鼻腔内,并暴露于各种气味剂和空气传播的有毒化合物。因此,有人建议这种蛋白质参与从感觉上皮细胞中清除亲脂性气味分子。该基因与 UDP 葡萄糖醛酸转移酶 2A1 家族成员共享外显子结构,后者编码 N 末端不同的亚型。该基因的多态性可能与一些人在 SARS-CoV-2 感染期间报告的味觉和嗅觉丧失有关。[RefSeq 提供,2022 年 1 月]

The protein encoded by this gene belongs to the UDP-glycosyltransferase family. Members of this protein family play a role in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. The encoded enzyme is expressed in the olfactory neuroepithelium, which lines the posterior nasal cavity and is exposed to a wide range of odorants and airborne toxic compounds. Hence, this protein has been suggested to be involved in clearing lipophilic odorant molecules from the sensory epithelium. This gene shares exon structure with the UDP glucuronosyltransferase 2A1 family member, which encodes N-terminally distinct isoforms. Polymorphisms in this gene may be associated with the loss of taste and smell that is reported by some individuals during SARS-CoV-2 Infection. [provided by RefSeq, Jan 2022]

UGT2A2 基因产物(2)

mRNA Protein Name
NM_001105677.2 NP_001099147.2 UDP-glucuronosyltransferase 2A2 isoform UGT2A2_i1
NM_001301233.1 NP_001288162.1 UDP-glucuronosyltransferase 2A2 isoform UGT2A2_i2
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
19858781 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in bile acid metabolic process IDA
IDA: 通过直接分析推断
23756265 GOA
involved in cellular glucuronidation IDA
IDA: 通过直接分析推断
19858781 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

UGT2A2 蛋白结构

UDPGT

UDPGT: UDP-glucoronosyl and UDP-glucosyl transferase (30 - 533)

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

UDP-glucuronosyltransferase 2A2

UDP glucuronosyltransferase 2 family, polypeptide A2

关联疾病

疾病名称 别名
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

Kernicterus

Bilirubin Encephalopathy

Hyperbilirubinemic Encephalopathy

Kernicterus Spectrum Disorder

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

Bilirubin Metabolic Disorder

Hyperbilirubinemia

Hereditary Hyperbilirubinemia

Hyperbilirubinemia, Hereditary

Hyperbilirubinaemia

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 UGT2A2 MGD MGI:3576095