UGT2B10 UDP glucuronosyltransferase family 2 member B10 [Homo sapiens (human)] - Gene

Summary

Official Symbol: UGT2B10provided by HGNC
Official Full Name: UDP glucuronosyltransferase family 2 member B10provided by HGNC
Primary source: HGNC:HGNC:12544
See related: Ensembl:ENSG00000109181 MIM:600070; AllianceGenome:HGNC:12544
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: UDPGT2B10
Summary: Predicted to be involved in lipid metabolic process. Predicted to be located in endoplasmic reticulum membrane. Predicted to be integral component of membrane. Predicted to be active in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Restricted expression toward liver (RPKM 194.6) See more
Orthologs: all
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Genomic context

Location:: 4q13.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (68815994..68832023)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (72257030..72273059)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (69681712..69697741)

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?

UGT2B10 Genotype Influences Serum Cotinine Levels and Is a Primary Determinant of Higher Cotinine in African American Smokers.
Title: UGT2B10 Genotype Influences Serum Cotinine Levels and Is a Primary Determinant of Higher Cotinine in African American Smokers.
a cis-regulatory SNP for human UGT2B10
Title: rs294775 is a cis-regulatory SNP for human UGT2B10.
The high prevalence of a UGT2B10 splice variant among African Americans results in lower 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanol (NNAL), - N-glucuronidation but only a small decrease in total NNAL glucuronidation. Therefore, despite the significant contribution of UGT2B10 to NNAL- N-glucuronidation, the UGT2B10 genotype does not play a large role in NNAL detoxication.
Title: Influence of UGT2B10 Genotype on Urinary Excretion of 4-(Methylnitrosamino)-1-(3-pyridyl)-1-butanol- N-glucuronide by African American Smokers.
UGT2B10 was for the first time identified as an N-glucosidation enzyme. Generated N-glucosides were excreted primarily by the BCRP transporter.
Title: Disposition of Mianserin and Cyclizine in UGT2B10-Overexpressing Human Embryonic Kidney 293 Cells: Identification of UGT2B10 as a Novel N-Glucosidation Enzyme and Breast Cancer Resistance Protein as an N-Glucoside Transporter.
A significant contribution of AS in the regulation of UGT2B10 expression in the liver.
Title: Post-transcriptional Regulation of UGT2B10 Hepatic Expression and Activity by Alternative Splicing.
UGT2B10 activity or genotype should be considered when using cotinine as a tobacco exposure biomarker, particularly in populations such as African American with high frequencies of UGT2B10 nonfunctional variants.
Title: Low Cotinine Glucuronidation Results in Higher Serum and Saliva Cotinine in African American Compared to White Smokers.
Spatial features influence the potency of UGT2B10 inhibition.
Title: Human UDP-Glucuronosyltransferase (UGT) 2B10: Validation of Cotinine as a Selective Probe Substrate, Inhibition by UGT Enzyme-Selective Inhibitors and Antidepressant and Antipsychotic Drugs, and Structural Determinants of Enzyme Inhibition.
UGT2B10 variant allele carriers had increased levels of C-oxidation (P = 0.0099)and all pathways should be considered when characterizing the role of nicotine metabolism on smoking behavior and cancer risk.
Title: Nicotine N-glucuronidation relative to N-oxidation and C-oxidation and UGT2B10 genotype in five ethnic/racial groups.
CYP2A6 and UGT2B10 genotype explain 53% of the variance in oral nicotine glucuronidation. They are also significantly associated with undeuterated (D0) nicotine glucuronidation in individuals smoking ad libitum.
Title: The contribution of common UGT2B10 and CYP2A6 alleles to variation in nicotine glucuronidation among European Americans.
the substrate specificity of UGT2B10, highlighting its preference for tertiary amines with higher affinities and clearance values than those of UGT1A4 and UGT1A3.
Title: Human UDP-glucuronosyltransferase (UGT) 2B10 in drug N-glucuronidation: substrate screening and comparison with UGT1A3 and UGT1A4.

Submit: New GeneRIF Correction See all GeneRIFs (18)

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
The Contribution of Common Genetic Variation to Nicotine and Cotinine Glucuronidation in Multiple Ethnic/Racial Populations. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Markers

RW12 (e-PCR)
- UniSTS:241560

NoName (e-PCR)
- UniSTS:480677

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables UDP-glycosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
NOT enables glucuronosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed

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

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: UDP-glucuronosyltransferase 2B10

Names: UDP glucuronosyltransferase 2 family, polypeptide B10; UDPGT 2B10

NP_001066.1

EC 2.4.1.17

NP_001138239.1

EC 2.4.1.17

NP_001277020.1

EC 2.4.1.17

XP_016864074.1

EC 2.4.1.17

XP_054184518.1

EC 2.4.1.17

XP_054184519.1

EC 2.4.1.17

XP_054206767.1

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_001075.6 → NP_001066.1 UDP-glucuronosyltransferase 2B10 isoform 1 precursor

See identical proteins and their annotated locations for NP_001066.1

Status: VALIDATED

Description

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

Source sequence(s)

AC021146, AK292738, BC113649

Consensus CDS

CCDS75136.1

UniProtKB/Swiss-Prot

A8K9M3, B4DPP1, P36537, Q14CR8

UniProtKB/TrEMBL

Q53GQ9, Q53GU2

Related

ENSP00000265403.7, ENST00000265403.12

Conserved Domains (1) summary

pfam00201
Location:23 → 524

UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase
NM_001144767.3 → NP_001138239.1 UDP-glucuronosyltransferase 2B10 isoform 2 precursor

See identical proteins and their annotated locations for NP_001138239.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.

Source sequence(s)

AC021146, AK298432, BC113649

Consensus CDS

CCDS75135.1

UniProtKB/TrEMBL

Q53GQ9, Q53GU2

Related

ENSP00000413420.2, ENST00000458688.2

Conserved Domains (3) summary

PHA03392
Location:184 → 422

egt; ecdysteroid UDP-glucosyltransferase; Provisional

pfam00201
Location:23 → 440

UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase

cl21454
Location:39 → 82

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
NM_001290091.2 → NP_001277020.1 UDP-glucuronosyltransferase 2B10 isoform 3

See identical proteins and their annotated locations for NP_001277020.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in its 5' UTR and uses a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AC021146, BC113649, CD013994

Conserved Domains (2) summary

PHA03392
Location:20 → 258

egt; ecdysteroid UDP-glucosyltransferase; Provisional

pfam00201
Location:1 → 276

UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase