UGT2B17

UDP glucuronosyltransferase family 2 member B17, the group of UDP glucuronosyltransferases|Minor histocompatibility antigens

Basic information

Region (hg38): 4:68537173-68576413

Links

ENSG00000197888 ∙ NCBI:7367 ∙ OMIM:601903 ∙ HGNC:12547 ∙ Uniprot:O75795 ∙ 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 UGT2B17 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UGT2B17 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				4	3	7
missense			21	2	7	30
nonsense						0
start loss						0
frameshift				1		1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	21	7	11

Variants in UGT2B17

This is a list of pathogenic ClinVar variants found in the UGT2B17 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-68537739-A-T		not specified	Uncertain significance (Mar 11, 2024)
4-68537809-C-T		not specified	Uncertain significance (Mar 06, 2023)
4-68537855-C-A		not specified	Conflicting classifications of pathogenicity (Feb 01, 2024)
4-68537856-C-T		UGT2B17-related disorder	Likely benign (Jun 25, 2020)
4-68537870-G-A		UGT2B17-related disorder	Benign (Dec 31, 2019)
4-68550712-C-G		not specified	Uncertain significance (Oct 27, 2023)
4-68550721-A-T		not specified	Uncertain significance (Feb 28, 2023)
4-68550752-G-T		not specified	Uncertain significance (Jul 11, 2023)
4-68550797-G-T		not specified	Uncertain significance (Jun 22, 2021)
4-68550838-T-C		UGT2B17-related disorder	Benign (Oct 21, 2019)
4-68550840-C-T		not specified	Uncertain significance (Nov 20, 2023)
4-68550851-C-T			Benign (Feb 25, 2018)
4-68550858-T-C		not specified	Uncertain significance (Nov 18, 2022)
4-68551852-A-G		UGT2B17-related disorder	Benign (Oct 21, 2019)
4-68551854-A-G		not specified	Uncertain significance (Sep 06, 2022)
4-68560592-A-T		not specified	Uncertain significance (Mar 19, 2024)
4-68565580-A-G		UGT2B17-related disorder	Likely benign (Jun 29, 2018)
4-68565619-C-A		not specified	Uncertain significance (Aug 23, 2021)
4-68565639-C-T		not specified	Uncertain significance (Dec 14, 2023)
4-68565672-A-G		not specified	Uncertain significance (Oct 20, 2021)
4-68567830-G-A			Likely benign (May 01, 2024)
4-68567944-C-T		UGT2B17-related disorder	Benign (Dec 31, 2019)
4-68567947-T-C		not specified	Uncertain significance (Jul 25, 2023)
4-68567964-C-T		not specified	Uncertain significance (Aug 24, 2022)
4-68567985-A-G		not specified	Uncertain significance (Feb 26, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
UGT2B17	protein_coding	protein_coding	ENST00000317746	6	31344

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.69e-8	0.771	102350	1	3	102354	0.0000195

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.689	238	270	0.882	0.0000130	3493
Missense in Polyphen		74	94.557	0.7826		1325
Synonymous	0.772	86	95.6	0.900	0.00000475	953
Loss of Function	1.38	14	20.8	0.673	0.00000105	272

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000999	0.0000998
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000197	0.00000974
Middle Eastern	0.00	0.00
South Asian	0.0000498	0.0000491
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. The major substrates of this isozyme are eugenol > 4-methylumbelliferone > dihydrotestosterone (DHT) > androstane-3-alpha,17-beta-diol (3-alpha-diol) > testosterone > androsterone (ADT).
• 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);17-Beta Hydroxysteroid Dehydrogenase III Deficiency;Androgen and Estrogen Metabolism;Aromatase deficiency;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: 0.170

Intolerance Scores

• loftool: 0.777
• rvis_EVS: 1.71
• rvis_percentile_EVS: 96.46

Haploinsufficiency Scores

• pHI: 0.0327
• hipred: N
• hipred_score: 0.380

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0504

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ugt2b1

Gene ontology

• Biological process: steroid 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