UGT2B11

protein-coding

UDP glucuronosyltransferase family 2 member B11, the group of UDP glucuronosyltransferases

Gene summary

Enables glucuronosyltransferase activity. Involved in estrogen metabolic process. Predicted to be located in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001073.3

Inheritance

—

ClinVar variants

U:123B:12

Top phenotype

EBV-positive nodal T- and NK-cell lymphoma

gnomAD constraint

pLI —, LoF o/e 1.12

Max pathogenic AF

—

Genomic locus

chr4:69,199,951-69,214,748

External References & Databases

Ensembl (ENSG00000213759)

Transcript & Mutation Effects

hg38 • Region Span ~14.8 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 UGT2B11 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 127

not providedTotal: 4

EBV-positive nodal T- and NK-cell lymphomaTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001073.3. 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				3 clinvar		3
missense			122 clinvar	9 clinvar		131
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	123	12	0	135

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 5 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001073.3	RefSeq	NP_001064.1	6	MANE Select
ENST00000446444.2	Ensembl	ENSP00000387683.1	6	MANE Select
XM_011531550.3	RefSeq	XP_011529852.1	6	Standard
XM_017007660.3	RefSeq	XP_016863149.1	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

xenobiotic metabolic process
estrogen metabolic process
xenobiotic glucuronidation

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: ENST00000446444
Coding exons: 6
Length: 14781
Individuals with no LoFs: 125277
Homozygous LoFs: 2
Heterozygous LoFs: 441
Defined: 125720
p: 0.00176

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-4.13	459	268	1.71	0.0000126	3474
Missense (PolyPhen)		183	112.24	1.6305		1522
Synonymous	-4.13	144	93.3	1.54	0.00000443	972
Loss of Function	-0.485	22	19.7	1.12	9.85e-7	233

Population LoF Frequency

Population	CAF	p-value	Status
African	0.023	0.023	notable
Latino/Admixed American	0.00088	0.00087	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.0012	0.0012	notable
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.000090	0.000088	rare
South Asian	0.00020	0.00020	rare
Other	0.00016	0.00016	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.;

Intolerance Scores

LoFtool: 0.968
RVIS EVS: 2.36
RVIS percentile EVS: 98.43

Essentials

Essential (CRISPR): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.121

Gene Damage Prediction

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