UGT2B7

UDP glucuronosyltransferase family 2 member B7, the group of UDP glucuronosyltransferases

Basic information

Region (hg38): 4:69051362-69112987

Links

ENSG00000171234 ∙ NCBI:7364 ∙ OMIM:600068 ∙ HGNC:12554 ∙ Uniprot:P16662 ∙ 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 UGT2B7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UGT2B7 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			24	1		25
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	24	1	1

Variants in UGT2B7

This is a list of pathogenic ClinVar variants found in the UGT2B7 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-69096347-C-A		Tramadol response	drug response (Apr 28, 2018)
4-69096348-T-A		Tramadol response	drug response (Apr 28, 2018)
4-69096349-T-A		Tramadol response	drug response (Apr 28, 2018)
4-69096359-C-T		Tramadol response	drug response (Apr 28, 2018)
4-69096360-T-C		Tramadol response	drug response (Apr 28, 2018)
4-69096375-C-A		Tramadol response	drug response (Apr 28, 2018)
4-69096383-G-A		Tramadol response	drug response (Apr 28, 2018)
4-69096451-CT-C		Tramadol response	drug response (Apr 28, 2018)
4-69096455-G-T		Tramadol response	drug response (Apr 28, 2018)
4-69096514-C-T		Tramadol response	drug response (Apr 28, 2018)
4-69096550-G-A		Tramadol response	drug response (Apr 28, 2018)
4-69096557-C-T		Tramadol response	drug response (Apr 28, 2018)
4-69096560-C-T		Tramadol response	drug response (Apr 28, 2018)
4-69096564-G-A		Tramadol response	drug response (Apr 28, 2018)
4-69096569-TG-T		Tramadol response	drug response (Apr 28, 2018)
4-69096579-C-T		Tramadol response	drug response (Apr 28, 2018)
4-69096631-G-A		Tramadol response	drug response (Apr 28, 2018)
4-69096636-T-G		Tramadol response	drug response (Apr 28, 2018)
4-69096645-T-C		Tramadol response	drug response (Apr 28, 2018)
4-69096650-G-A		Tramadol response	drug response (Apr 28, 2018)
4-69096657-T-C		Tramadol response	Likely benign (Jul 05, 2018)
4-69096671-C-T		Tramadol response	drug response (Apr 28, 2018)
4-69096686-C-G		not specified	Uncertain significance (Jun 01, 2023)
4-69096698-G-T		not specified	Uncertain significance (Apr 20, 2023)
4-69096707-C-A		not specified	Uncertain significance (Jun 22, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
UGT2B7	protein_coding	protein_coding	ENST00000305231	6	61625

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.19e-13	0.0235	125707	0	35	125742	0.000139

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.33	338	276	1.23	0.0000135	3501
Missense in Polyphen		88	70.472	1.2487		966
Synonymous	-0.593	104	96.6	1.08	0.00000510	962
Loss of Function	0.0416	20	20.2	0.990	0.00000103	231

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000222	0.000221
Ashkenazi Jewish	0.00	0.00
East Asian	0.000274	0.000272
Finnish	0.00	0.00
European (Non-Finnish)	0.000115	0.000114
Middle Eastern	0.000274	0.000272
South Asian	0.000407	0.000392
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. {ECO:0000269|PubMed:17442341}.
• Pathway: Artemisinin and Derivatives Pathway, Pharmacokinetics;Benzodiazepine Pathway, Pharmacokinetics;Retinol metabolism - Homo sapiens (human);Steroid hormone biosynthesis - Homo sapiens (human);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);Carbamazepine Pathway, Pharmacokinetics;Pentose and glucuronate interconversions - Homo sapiens (human);Losartan Pathway, Pharmacokinetics;Statin Pathway - Generalized, Pharmacokinetics;Atorvastatin/Lovastatin/Simvastatin Pathway, Pharmacokinetics;Fluvastatin Pathway, Pharmacokinetics;Estrogen Metabolism Pathway;Tamoxifen Pathway, Pharmacokinetics;Codeine and Morphine Pathway, Pharmacokinetics;Zidovudine Pathway, Pharmacokinetics/Pharmacodynamics;Tramadol Pharmacokinetics;Valproic Acid Pathway, Pharmacokinetics;Mycophenolic acid Pathway, Pharmacokinetics;Mycophenolic acid Pathway, Pharmacokinetics/Pharmacodynamics;Ibuprofen Pathway, Pharmacokinetics;Nicotine Pathway, Pharmacokinetics;Ibuprofen Action Pathway;Artemether Metabolism Pathway;Mycophenolic Acid Metabolism Pathway;Ibuprofen Metabolism Pathway;Codeine Metabolism Pathway;Morphine Metabolism Pathway;Codeine Action Pathway;Morphine Action Pathway;Tramadol Metabolism Pathway;Codeine and Morphine Metabolism;Nuclear Receptors Meta-Pathway;NRF2 pathway;Tamoxifen metabolism;Estrogen 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;Vitamin A (retinol) metabolism;Xenobiotics metabolism;Porphyrin metabolism (Consensus)

Recessive Scores

• pRec: 0.205

Intolerance Scores

• loftool: 0.913
• rvis_EVS: -0.18
• rvis_percentile_EVS: 40.56

Haploinsufficiency Scores

• pHI: 0.0373
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.401

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ugt2b36

Gene ontology

• Biological process: lipid metabolic process;androgen metabolic process;cellular glucuronidation
• Cellular component: endoplasmic reticulum membrane;membrane;integral component of membrane;organelle membrane;intracellular membrane-bounded organelle
• Molecular function: retinoic acid binding;UDP-glycosyltransferase activity;glucuronosyltransferase activity