UGT8

UDP glycosyltransferase 8, the group of UDP glucuronosyltransferases|MicroRNA protein coding host genes

Basic information

Region (hg38): 4:114598770-114678588

Previous symbols: [ "CGT" ]

Links

ENSG00000174607 ∙ NCBI:7368 ∙ OMIM:601291 ∙ HGNC:12555 ∙ Uniprot:Q16880 ∙ 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 UGT8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UGT8 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	1	5
missense			23	4		27
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding					1	1
Total	0	0	23	8	2

Variants in UGT8

This is a list of pathogenic ClinVar variants found in the UGT8 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-114622898-A-G			Likely benign (May 01, 2022)
4-114622933-C-T		not specified	Likely benign (Sep 13, 2023)
4-114622956-G-A		not specified	Uncertain significance (Oct 06, 2021)
4-114622956-G-T		not specified	Uncertain significance (May 17, 2023)
4-114623008-C-T		not specified	Uncertain significance (Feb 16, 2023)
4-114623019-G-C		not specified	Uncertain significance (Jul 25, 2023)
4-114623025-G-T		not specified	Uncertain significance (Jun 24, 2022)
4-114623058-A-G		not specified	Uncertain significance (May 15, 2023)
4-114623070-C-T		not specified	Uncertain significance (May 30, 2024)
4-114623199-C-G		not specified	Uncertain significance (Jul 12, 2022)
4-114623245-C-A		not specified	Uncertain significance (Apr 04, 2023)
4-114623276-T-G		not specified	Uncertain significance (Aug 08, 2022)
4-114623334-G-A			Likely benign (May 30, 2018)
4-114623463-A-G		not specified	Uncertain significance (Nov 18, 2022)
4-114623481-C-T		not specified	Uncertain significance (Feb 15, 2023)
4-114623495-A-G			Likely benign (Apr 25, 2018)
4-114623498-G-T			Benign (Dec 31, 2019)
4-114623558-A-A			Benign (Jun 19, 2018)
4-114623584-A-T		not specified	Uncertain significance (Jun 27, 2023)
4-114623691-C-T			Uncertain significance (Jan 17, 2017)
4-114664085-G-T		not specified	Uncertain significance (Aug 22, 2022)
4-114665719-T-C			Likely benign (Jun 13, 2018)
4-114668129-A-G		not specified	Uncertain significance (Sep 27, 2021)
4-114668144-A-G		not specified	Uncertain significance (Dec 16, 2023)
4-114668146-A-A			Benign (Jun 19, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
UGT8	protein_coding	protein_coding	ENST00000310836	5	79770

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0280	0.970	125739	0	9	125748	0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.66	210	290	0.725	0.0000147	3548
Missense in Polyphen		71	135.29	0.5248		1615
Synonymous	-0.932	124	111	1.11	0.00000587	1075
Loss of Function	2.70	6	18.5	0.324	8.50e-7	248

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000615	0.0000615
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000353	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.0000980	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Catalyzes the transfer of galactose to ceramide, a key enzymatic step in the biosynthesis of galactocerebrosides, which are abundant sphingolipids of the myelin membrane of the central nervous system and peripheral nervous system. {ECO:0000250|UniProtKB:Q09426}.
• Pathway: Ether lipid metabolism - Homo sapiens (human);Sphingolipid metabolism - Homo sapiens (human);Sphingolipid Metabolism;Gaucher Disease;Globoid Cell Leukodystrophy;Metachromatic Leukodystrophy (MLD);Fabry disease;Krabbe disease;Metabolism of lipids;Metabolism;Glycosphingolipid metabolism;Glycosphingolipid metabolism;Sphingolipid metabolism (Consensus)

Recessive Scores

• pRec: 0.268

Intolerance Scores

• loftool: 0.295
• rvis_EVS: 0.24
• rvis_percentile_EVS: 69.46

Haploinsufficiency Scores

• pHI: 0.615
• hipred: Y
• hipred_score: 0.783
• ghis: 0.412

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.968

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ugt8a
• Phenotype: homeostasis/metabolism phenotype; growth/size/body region phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: protein localization to paranode region of axon;galactosylceramide biosynthetic process;glycosphingolipid metabolic process;cytoskeleton organization;central nervous system development;peripheral nervous system development;paranodal junction assembly;neuron projection morphogenesis
• Cellular component: plasma membrane;integral component of membrane;intracellular membrane-bounded organelle
• Molecular function: UDP-glycosyltransferase activity;UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity;N-acylsphingosine galactosyltransferase activity