UGT3A2

UDP glycosyltransferase family 3 member A2, the group of UDP glucuronosyltransferases

Basic information

Region (hg38): 5:36035020-36071358

Links

ENSG00000168671 ∙ NCBI:167127 ∙ OMIM:616384 ∙ HGNC:27266 ∙ Uniprot:Q3SY77 ∙ 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 UGT3A2 gene.

• Inborn genetic diseases (18 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UGT3A2 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						0
missense			16	2		18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	2	0

Variants in UGT3A2

This is a list of pathogenic ClinVar variants found in the UGT3A2 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-36035759-C-T		not specified	Uncertain significance (Dec 06, 2021)
5-36035810-T-C		not specified	Uncertain significance (Dec 06, 2022)
5-36035920-G-T		not specified	Uncertain significance (Jun 30, 2023)
5-36035968-C-A		not specified	Uncertain significance (Oct 12, 2022)
5-36037924-G-C		not specified	Likely benign (Dec 11, 2023)
5-36037952-C-A		not specified	Uncertain significance (Sep 29, 2023)
5-36038001-C-T		not specified	Uncertain significance (Mar 01, 2024)
5-36038004-A-C		not specified	Uncertain significance (Dec 04, 2023)
5-36039545-C-A		not specified	Uncertain significance (Jan 05, 2022)
5-36039587-T-A		not specified	Uncertain significance (Apr 26, 2023)
5-36039633-A-G		not specified	Uncertain significance (May 01, 2022)
5-36039678-C-G		not specified	Uncertain significance (Jan 10, 2023)
5-36039683-A-G		not specified	Uncertain significance (Dec 06, 2021)
5-36039693-T-C		not specified	Uncertain significance (Jun 12, 2023)
5-36048971-G-T		not specified	Uncertain significance (Jan 06, 2023)
5-36049107-T-C		not specified	Uncertain significance (Jun 01, 2022)
5-36049196-A-C		not specified	Likely benign (Mar 11, 2022)
5-36049380-C-T		not specified	Uncertain significance (Dec 21, 2023)
5-36051902-A-T		not specified	Uncertain significance (Aug 11, 2022)
5-36051909-T-G		not specified	Uncertain significance (Dec 01, 2022)
5-36051923-T-G		not specified	Uncertain significance (Apr 08, 2022)
5-36051984-T-C		not specified	Likely benign (Nov 15, 2021)
5-36066752-A-G		not specified	Uncertain significance (Sep 22, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
UGT3A2	protein_coding	protein_coding	ENST00000282507	7	36342

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.19e-10	0.257	125662	0	86	125748	0.000342

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.163	277	285	0.973	0.0000148	3464
Missense in Polyphen		105	99.979	1.0502		1303
Synonymous	-0.118	110	108	1.01	0.00000610	1013
Loss of Function	0.722	16	19.4	0.823	0.00000106	223

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00137	0.00137
Ashkenazi Jewish	0.00	0.00
East Asian	0.000823	0.000816
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000264	0.000264
Middle Eastern	0.000823	0.000816
South Asian	0.000359	0.000359
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: UDP-glucuronosyltransferases catalyze phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds (By similarity). {ECO:0000250}.
• Pathway: Glucuronidation;Phase II - Conjugation of compounds;Biological oxidations;Metabolism (Consensus)

Intolerance Scores

• loftool: 0.952
• rvis_EVS: 0.35
• rvis_percentile_EVS: 74.58

Haploinsufficiency Scores

• pHI: 0.114
• hipred: N
• hipred_score: 0.139
• ghis: 0.470

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.204

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ugt3a2

Gene ontology

• Biological process: cellular response to genistein
• Cellular component: integral component of membrane;intracellular membrane-bounded organelle
• Molecular function: UDP-glycosyltransferase activity;glucuronosyltransferase activity