UGT2B7 UDP glucuronosyltransferase family 2 member B7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: UGT2B7provided by HGNC
Official Full Name: UDP glucuronosyltransferase family 2 member B7provided by HGNC
Primary source: HGNC:HGNC:12554
See related: Ensembl:ENSG00000171234 MIM:600068; AllianceGenome:HGNC:12554
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: UGT2B9; UDPGTH2; UDPGT2B7; UDPGTh-2; UDPGT 2B7; UDPGT 2B9
Summary: 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]
Expression: Biased expression in kidney (RPKM 335.9), liver (RPKM 240.7) and 2 other tissues See more
Orthologs: all
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Genomic context

Location:: 4q13.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (69051375..69112987)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (72492136..72553482)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (69917093..69978705)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Impact of UGT1A4 and UGT2B7 polymorphisms on lamotrigine plasma concentration in patients with bipolar disorder.
Title: Impact of UGT1A4 and UGT2B7 polymorphisms on lamotrigine plasma concentration in patients with bipolar disorder.
Influence of UDP-Glucuronosyltransferase Polymorphisms on Mycophenolic Acid Metabolism in Renal Transplant Patients.
Title: Influence of UDP-Glucuronosyltransferase Polymorphisms on Mycophenolic Acid Metabolism in Renal Transplant Patients.
Bearing variant alleles at uridine glucuronosyltransferase polymorphisms UGT2B7 -161C > T (rs7668258) or UGT1A4*3 c.142 T > G (rs2011425) has no relevant consequences for lamotrigine troughs in adults with epilepsy.
Title: Bearing variant alleles at uridine glucuronosyltransferase polymorphisms UGT2B7 -161C > T (rs7668258) or UGT1A4*3 c.142 T > G (rs2011425) has no relevant consequences for lamotrigine troughs in adults with epilepsy.
Significance of UGT1A6, UGT1A9, and UGT2B7 genetic variants and their mRNA expression in the clinical outcome of renal cell carcinoma.
Title: Significance of UGT1A6, UGT1A9, and UGT2B7 genetic variants and their mRNA expression in the clinical outcome of renal cell carcinoma.
Impact of MDR1 and UGT Gene Polymorphisms on Sodium Valproate Plasma Concentration in Patients with Epilepsy.
Title: Impact of MDR1 and UGT Gene Polymorphisms on Sodium Valproate Plasma Concentration in Patients with Epilepsy.
Metabolism and Toxicity of Emodin: Genome-Wide Association Studies Reveal Hepatocyte Nuclear Factor 4alpha Regulates UGT2B7 and Emodin Glucuronidation.
Title: Metabolism and Toxicity of Emodin: Genome-Wide Association Studies Reveal Hepatocyte Nuclear Factor 4α Regulates UGT2B7 and Emodin Glucuronidation.
The N(6)-methyladenosine modification posttranscriptionally regulates hepatic UGT2B7 expression.
Title: The N(6)-methyladenosine modification posttranscriptionally regulates hepatic UGT2B7 expression.
UGT1A6 and UGT2B7 Gene Polymorphism and its Effect in Pediatric Epileptic Patients on Sodium Valproate Monotherapy.
Title: UGT1A6 and UGT2B7 Gene Polymorphism and its Effect in Pediatric Epileptic Patients on Sodium Valproate Monotherapy.
Association between sex hormones regulation-related SNP rs12233719 and lung cancer risk among never-smoking Chinese women.
Title: Association between sex hormones regulation-related SNP rs12233719 and lung cancer risk among never-smoking Chinese women.
Influence of UGT2B7 and UGT1A6 polymorphisms on plasma concentration to dose ratio of valproic acid in Chinese epileptic children.
Title: Influence of UGT2B7 and UGT1A6 polymorphisms on plasma concentration to dose ratio of valproic acid in Chinese epileptic children.

Submit: New GeneRIF Correction See all GeneRIFs (133)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-50220 (e-PCR)
- UniSTS:4381

D4S3134 (e-PCR)
- UniSTS:4382

RW12 (e-PCR)
- UniSTS:241560

SHGC-67984 (e-PCR)
- UniSTS:50361

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables glucuronosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables glucuronosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables glucuronosyltransferase activity	TAS Traceable Author Statement more info
NOT enables retinoic acid binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in androgen metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular glucuronidation	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular glucuronidation	IDA Inferred from Direct Assay more info	PubMed
involved_in estrogen metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in estrogen metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in lipid metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in xenobiotic metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in membrane	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: UDP-glucuronosyltransferase 2B7

Names: 3,4-catechol estrogen specific; 3,4-catechol estrogen-specific UDPGT; UDP glucuronosyltransferase 2 family, polypeptide B7; UDP-glucuronosyltransferase 2B9; UDP-glucuronyltransferase, family 2, beta-7

NP_001065.2

EC 2.4.1.17

NP_001317648.1

EC 2.4.1.17

NP_001336497.1

EC 2.4.1.17

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001074.4 → NP_001065.2 UDP-glucuronosyltransferase 2B7 isoform 1 precursor

See identical proteins and their annotated locations for NP_001065.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AK313190, AW614236, BC030974

Consensus CDS

CCDS3526.1

UniProtKB/Swiss-Prot

B2R810, P16662, Q6GTW0

Related

ENSP00000304811.7, ENST00000305231.12

Conserved Domains (1) summary

pfam00201
Location:24 → 525

UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase
NM_001330719.2 → NP_001317648.1 UDP-glucuronosyltransferase 2B7 isoform 2 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate exon, which results in a frameshift, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AK313190, AW614236, BC030974

Consensus CDS

CCDS82930.1

UniProtKB/TrEMBL

A0A087X084, E9PBP8

Related

ENSP00000427659.1, ENST00000508661.5

Conserved Domains (2) summary

pfam00201
Location:24 → 363

UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase

cl10013
Location:8 → 368

Glycosyltransferase_GTB_type; Glycosyltransferases catalyze the transfer of sugar moieties from activated donor molecules to specific acceptor molecules, forming glycosidic bonds. The acceptor molecule can be a lipid, a protein, a heterocyclic compound, or another carbohydrate ...
NM_001349568.2 → NP_001336497.1 UDP-glucuronosyltransferase 2B7 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) contains alternate exons in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

AC111000, AW614236

Conserved Domains (1) summary

pfam00201
Location:1 → 276

UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase