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

Gene ID: 7364, updated on 12-Oct-2019

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
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

Genomic context

See UGT2B7 in Genome Data Viewer
Location:
4q13.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (69051264..69112987)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (69955190..69978705)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene UDP glucuronosyltransferase family 2 member B7 pseudogene Neighboring gene UDP glucuronosyltransferase family 2 member B26, pseudogene Neighboring gene uncharacterized LOC105377265 Neighboring gene UGT2B7 (B) eExon liver enhancer Neighboring gene FOXA motif-containing MPRA enhancer 238 Neighboring gene speckle type BTB/POZ protein like pseudogene Neighboring gene UDP-glucuronosyltransferase 2A1-like

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
UDP-glycosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glucuronosyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
NOT retinoic acid binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
androgen metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
cellular glucuronidation IDA
Inferred from Direct Assay
more info
PubMed 
lipid metabolic process TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane TAS
Traceable Author Statement
more info
PubMed 

General protein information

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
NP_001317648.1
NP_001336497.1

NCBI Reference Sequences (RefSeq)

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)

  1. NM_001074.4NP_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
    P16662
    Related
    ENSP00000304811.7, ENST00000305231.12
    Conserved Domains (1) summary
    pfam00201
    Location:24525
    UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase
  2. NM_001330719.1NP_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/Swiss-Prot
    P16662
    UniProtKB/TrEMBL
    E9PBP8
    Related
    ENSP00000427659.1, ENST00000508661.5
    Conserved Domains (2) summary
    pfam00201
    Location:24363
    UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase
    cl10013
    Location:8368
    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 ...
  3. NM_001349568.1NP_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:1276
    UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    69051264..69112987
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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