UGT2A3

UDP glucuronosyltransferase family 2 member A3, the group of UDP glucuronosyltransferases

Basic information

Region (hg38): 4:68928463-68951804

Links

ENSG00000135220 ∙ NCBI:79799 ∙ OMIM:616382 ∙ HGNC:28528 ∙ Uniprot:Q6UWM9 ∙ 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 UGT2A3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UGT2A3 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			39	2		41
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	39	2	0

Variants in UGT2A3

This is a list of pathogenic ClinVar variants found in the UGT2A3 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-68929817-T-C		not specified	Uncertain significance (Jan 07, 2022)
4-68929859-G-A		not specified	Uncertain significance (Jul 20, 2021)
4-68929882-C-A		not specified	Uncertain significance (Jan 03, 2024)
4-68929956-G-A		not specified	Uncertain significance (Sep 13, 2023)
4-68929973-C-G		not specified	Uncertain significance (Feb 21, 2024)
4-68929997-C-T		not specified	Uncertain significance (Jul 20, 2022)
4-68929998-G-A		not specified	Uncertain significance (Dec 01, 2022)
4-68930054-T-C		not specified	Uncertain significance (Feb 10, 2023)
4-68930619-C-T		not specified	Uncertain significance (Sep 16, 2021)
4-68930624-G-T		not specified	Uncertain significance (Jan 06, 2023)
4-68930634-C-T		not specified	Uncertain significance (Sep 14, 2023)
4-68930657-A-T		not specified	Uncertain significance (May 13, 2024)
4-68930669-A-G		not specified	Uncertain significance (Nov 12, 2021)
4-68931165-A-T		not specified	Uncertain significance (Feb 27, 2023)
4-68931190-C-T		not specified	Likely benign (Oct 02, 2023)
4-68931191-G-A		not specified	Uncertain significance (Jan 08, 2024)
4-68931194-T-A		not specified	Uncertain significance (Mar 20, 2024)
4-68932635-G-C		not specified	Uncertain significance (Nov 08, 2022)
4-68932680-G-A		not specified	Uncertain significance (Dec 17, 2023)
4-68932689-T-C		not specified	Uncertain significance (Aug 08, 2023)
4-68932689-T-G		not specified	Uncertain significance (Dec 17, 2023)
4-68932747-A-C		not specified	Uncertain significance (Apr 01, 2022)
4-68945316-G-A		not specified	Uncertain significance (Mar 29, 2022)
4-68945323-C-A		not specified	Uncertain significance (Jan 18, 2023)
4-68945371-G-C		not specified	Uncertain significance (Mar 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
UGT2A3	protein_coding	protein_coding	ENST00000251566	6	23329

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.26e-15	0.00601	125623	0	103	125726	0.000410

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.75	354	272	1.30	0.0000128	3448
Missense in Polyphen		128	100.05	1.2793		1379
Synonymous	-2.80	131	96.1	1.36	0.00000459	992
Loss of Function	-0.307	22	20.5	1.07	0.00000115	252

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00119	0.00118
Ashkenazi Jewish	0.000200	0.000198
East Asian	0.000388	0.000381
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.000443	0.000422
Middle Eastern	0.000388	0.000381
South Asian	0.000597	0.000588
Other	0.000168	0.000163

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: 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);Pentose and glucuronate interconversions - Homo sapiens (human);Glucuronidation;Metapathway biotransformation Phase I and II;Glucuronidation;Phase II - Conjugation of compounds;Biological oxidations;Metabolism (Consensus)

Recessive Scores

• pRec: 0.139

Intolerance Scores

• loftool: 0.828
• rvis_EVS: 0.38
• rvis_percentile_EVS: 75.63

Haploinsufficiency Scores

• pHI: 0.335
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0437

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ugt2a3

Gene ontology

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