UGT2B10

UDP glucuronosyltransferase family 2 member B10, the group of UDP glucuronosyltransferases

Basic information

Region (hg38): 4:68815994-68832023

Links

ENSG00000109181 ∙ NCBI:7365 ∙ OMIM:600070 ∙ HGNC:12544 ∙ Uniprot:P36537 ∙ 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 UGT2B10 gene.

• not_specified (89 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UGT2B10 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001075.6. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			86	3		89
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	86	4	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
UGT2B10	protein_coding	protein_coding	ENST00000265403	6	15204

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.03e-17	0.00131	125186	10	539	125735	0.00219

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-2.86	397	266	1.49	0.0000124	3481
Missense in Polyphen		99	71.269	1.3891		1030
Synonymous	-2.31	122	93.6	1.30	0.00000458	967
Loss of Function	-0.710	24	20.5	1.17	0.00000113	229

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0265	0.0262
Ashkenazi Jewish	0.00	0.00
East Asian	0.000601	0.000599
Finnish	0.000833	0.000832
European (Non-Finnish)	0.000540	0.000536
Middle Eastern	0.000601	0.000599
South Asian	0.000263	0.000261
Other	0.000816	0.000815

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);Nicotine Pathway, Pharmacokinetics;Glucuronidation;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)

Haploinsufficiency Scores

• pHI: 0.0603
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.432

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ugt2b34

Gene ontology

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