UGT2B11

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

Basic information

Region (hg38): 4:69199951-69214748

Links

ENSG00000213759 ∙ NCBI:10720 ∙ OMIM:603064 ∙ HGNC:12545 ∙ Uniprot:O75310 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the UGT2B11 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UGT2B11 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			46	4		50
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	46	5	0

Variants in UGT2B11

This is a list of pathogenic ClinVar variants found in the UGT2B11 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
4-69200579-G-C		not specified	Uncertain significance (Feb 17, 2024)
4-69200615-C-A		not specified	Uncertain significance (Jan 31, 2024)
4-69200642-C-G		not specified	Uncertain significance (Sep 01, 2021)
4-69200654-C-T		not specified	Uncertain significance (Jun 23, 2021)
4-69200706-T-C		EBV-positive nodal T- and NK-cell lymphoma	Likely benign (-)
4-69204454-A-G		not specified	Uncertain significance (Oct 12, 2021)
4-69204469-T-C		not specified	Uncertain significance (Oct 27, 2023)
4-69204488-T-G		not specified	Uncertain significance (Aug 04, 2021)
4-69204542-G-A		not specified	Uncertain significance (Feb 23, 2023)
4-69204550-A-G		not specified	Uncertain significance (Feb 05, 2024)
4-69204551-A-C		not specified	Uncertain significance (Feb 05, 2024)
4-69204584-G-A		not specified	Uncertain significance (Jan 25, 2023)
4-69204649-C-T			Likely benign (Apr 01, 2023)
4-69205502-C-A		not specified	Uncertain significance (Jan 18, 2023)
4-69205521-T-C		not specified	Uncertain significance (May 23, 2023)
4-69205525-G-T		not specified	Uncertain significance (Jul 14, 2023)
4-69208383-T-C		not specified	Uncertain significance (Feb 07, 2023)
4-69212602-G-A		not specified	Uncertain significance (Feb 15, 2023)
4-69212614-C-T		not specified	Uncertain significance (Jun 01, 2023)
4-69212615-A-C		not specified	Uncertain significance (Jan 26, 2022)
4-69212623-C-T		not specified	Uncertain significance (Jun 28, 2022)
4-69212653-A-T		not specified	Uncertain significance (Oct 26, 2022)
4-69212703-A-G		not specified	Likely benign (Jun 11, 2024)
4-69212716-G-A		not specified	Uncertain significance (Jun 01, 2023)
4-69214026-C-T		not specified	Uncertain significance (Mar 12, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
UGT2B11	protein_coding	protein_coding	ENST00000446444	6	14781

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.98e-16	0.00388	125277	2	441	125720	0.00176

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-4.13	459	268	1.71	0.0000126	3474
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0242	0.0241
Ashkenazi Jewish	0.00	0.00
East Asian	0.00121	0.00120
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.0000903	0.0000879
Middle Eastern	0.00121	0.00120
South Asian	0.000197	0.000196
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds.
• Pathway: 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);Drug metabolism - cytochrome P450 - Homo sapiens (human);Porphyrin and chlorophyll metabolism - Homo sapiens (human);Chemical carcinogenesis - Homo sapiens (human);Ascorbate and aldarate metabolism - Homo sapiens (human);Pentose and glucuronate interconversions - Homo sapiens (human);Glycogen synthetase deficiency;Glycogenosis, Type III. Cori disease, Debrancher glycogenosis;Mucopolysaccharidosis VI. Sly syndrome;Sucrase-isomaltase deficiency;Glycogenosis, Type IV. Amylopectinosis, Anderson disease;Glycogenosis, Type VI. Hers disease;17-Beta Hydroxysteroid Dehydrogenase III Deficiency;Hereditary Coproporphyria (HCP);Porphyria Variegata (PV);Congenital Erythropoietic Porphyria (CEP) or Gunther Disease;Acute Intermittent Porphyria;Starch and Sucrose Metabolism;Androgen and Estrogen Metabolism;Aromatase deficiency;Porphyrin Metabolism;Glucuronidation;Metapathway biotransformation Phase I and II;Glucuronidation;Phase II - Conjugation of compounds;Tyrosine metabolism;Androgen and estrogen biosynthesis and metabolism;Biological oxidations;Metabolism;Linoleate metabolism;thyroid hormone metabolism II (via conjugation and/or degradation);Vitamin A (retinol) metabolism;Xenobiotics metabolism;Porphyrin metabolism;serotonin degradation;superpathway of tryptophan utilization;melatonin degradation I;superpathway of melatonin degradation;nicotine degradation IV (Consensus)

Intolerance Scores

• loftool: 0.968
• rvis_EVS: 2.36
• rvis_percentile_EVS: 98.43

Haploinsufficiency Scores

• pHI: 0.0495
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.121

Gene Damage Prediction

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

Gene ontology

• Biological process: xenobiotic metabolic process;estrogen metabolic process;xenobiotic glucuronidation
• Cellular component: endoplasmic reticulum membrane;integral component of membrane;organelle membrane;intracellular membrane-bounded organelle
• Molecular function: UDP-glycosyltransferase activity;glucuronosyltransferase activity