UGT2A2 UDP glucuronosyltransferase family 2 member A2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: UGT2A2provided by HGNC
Official Full Name: UDP glucuronosyltransferase family 2 member A2provided by HGNC
Primary source: HGNC:HGNC:28183
See related: Ensembl:ENSG00000271271 MIM:619809; AllianceGenome:HGNC:28183
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: UDPGT 2A2
Summary: 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]
Annotation information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for disease process.
Expression: Biased expression in kidney (RPKM 3.0), liver (RPKM 2.9) and 1 other tissue See more
Orthologs: all
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Genomic context

Location:: 4q13.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (69588417..69639642, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (72923224..72974440, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (70454135..70505360, complement)

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
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?

The UGT2A1/UGT2A2 locus is associated with COVID-19-related loss of smell or taste.
Title: The UGT2A1/UGT2A2 locus is associated with COVID-19-related loss of smell or taste.
Results show that UGT2A2 not only shares exons 2-6 with UGT2A1, it also shares with it a similar tissue expression pattern; both UGTs are primarily expressed in nasal epithelium. The 3rd member of UGT2A subfamily, UGT2A3 exhibited a different tissue expression pattern, found mainly in liver and small intestine.
Title: Human UDP-glucuronosyltransferase UGT2A2: cDNA construction, expression, and functional characterization in comparison with UGT2A1 and UGT2A3.

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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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

Process	Evidence Code	Pubs
involved_in bile acid metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular glucuronidation	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cellular_component	ND No biological Data available more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: UDP-glucuronosyltransferase 2A2

Names: UDP glucuronosyltransferase 2 family, polypeptide A2

NP_001099147.2

EC 2.4.1.17

NP_001288162.1

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_001105677.2 → NP_001099147.2 UDP-glucuronosyltransferase 2A2 isoform UGT2A2_i1 precursor

See identical proteins and their annotated locations for NP_001099147.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (UGT2A2_i1).

Source sequence(s)

AC093829, FJ664272

Consensus CDS

CCDS56331.1

UniProtKB/Swiss-Prot

B4E2F4, D3GER1, D3GER2, E9PDM7, J3KNA3, P0DTE5, Q9Y4X1

Related

ENSP00000475028.2, ENST00000604629.6

Conserved Domains (1) summary

pfam00201
Location:30 → 524

UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase
NM_001301233.1 → NP_001288162.1 UDP-glucuronosyltransferase 2A2 isoform UGT2A2_i2 precursor

See identical proteins and their annotated locations for NP_001288162.1

Status: VALIDATED

Description

Transcript Variant: This variant (2, also known as UGT2A2deltaexon3) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (UGT2A2_i2) that is shorter than isoform UGT2A2_i1.

Source sequence(s)

AC093829, FJ664273

Consensus CDS

CCDS77924.1

UniProtKB/Swiss-Prot

Q9Y4X1

Related

ENSP00000474383.2, ENST00000604021.1

Conserved Domains (2) summary

PHA03392
Location:295 → 469

egt; ecdysteroid UDP-glucosyltransferase; Provisional

pfam00201
Location:30 → 480

UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase