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.

not_specified (43 variants)
not_provided (10 variants)

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. These statistics are base on transcript: NM_001128174.3. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				5 clinvar	1 clinvar	6
missense			41 clinvar	5 clinvar		46
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	41	10	1

Loading clinvar variants...

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