UGT2B10

protein-coding

UDP glucuronosyltransferase family 2 member B10, the group of UDP glucuronosyltransferases

Gene summary

Predicted to enable UDP-glycosyltransferase activity. Predicted to be involved in estrogen metabolic process. Predicted to be located in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001075.6

Inheritance

—

ClinVar variants

U:101B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.17

Max pathogenic AF

—

Genomic locus

chr4:68,815,994-68,832,023

External References & Databases

Ensembl (ENSG00000109181)

Transcript & Mutation Effects

hg38 • Region Span ~16.0 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to UGT2B10 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 104

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001075.6. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			101 clinvar	3 clinvar		104
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	101	4	0	105

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 33 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001075.6	RefSeq	NP_001066.1	6	MANE Select
ENST00000265403.12	Ensembl	ENSP00000265403.7	6	MANE Select
NM_001144767.3	RefSeq	NP_001138239.1	6	Standard
NM_001290091.2	RefSeq	NP_001277020.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Retinol metabolism - Homo sapiens (human)
Steroid hormone biosynthesis - Homo sapiens (human)
nicotine degradation III
Metabolism of xenobiotics by cytochrome P450 - Homo sapiens (human)
Drug metabolism - other enzymes - Homo sapiens (human)

Biological Process

lipid metabolic process

Molecular Function

UDP-glycosyltransferase activity
glucuronosyltransferase activity

Cellular Component

endoplasmic reticulum membrane
integral component of membrane
organelle membrane
intracellular membrane-bounded organelle

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000265403
Coding exons: 6
Length: 15204
Individuals with no LoFs: 125186
Homozygous LoFs: 10
Heterozygous LoFs: 539
Defined: 125735
p: 0.00219

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-2.86	397	266	1.49	0.0000124	3481
Missense (PolyPhen)		99	71.269	1.3891		1030
Synonymous	-2.31	122	93.6	1.30	0.00000458	967
Loss of Function	-0.710	24	20.5	1.17	0.00000113	229

Population LoF Frequency

Population	CAF	p-value	Status
African	0.025	0.025	notable
Latino/Admixed American	0.0014	0.0014	notable
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00060	0.00060	rare
Finnish	0.00083	0.00083	rare
European (Non-Finnish)	0.00054	0.00054	rare
South Asian	0.00026	0.00026	rare
Other	0.00082	0.00081	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds.;

Essentials

Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.432

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium