GeneBe

B3GNT8

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8, the group of Beta 3-glycosyltransferases

Basic information

Region (hg38): 19:41425359-41428730

Previous symbols: [ "B3GALT7" ]

Links

ENSG00000177191 ∙ NCBI:374907 ∙ OMIM:615357 ∙ HGNC:24139 ∙ Uniprot:Q7Z7M8 ∙ 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 B3GNT8 gene.

  • not_specified (75 variants)
  • not_provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the B3GNT8 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001385648.2. 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.

EffectPLPVUSLBBSum
synonymous
2
clinvar
 2
missense
68
clinvar
7
clinvar
 75
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 68 7 2
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
B3GNT8protein_codingprotein_codingENST00000321702 13372
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
4.81e-90.1181256730501257230.000199
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.2212502600.9610.00001762470
Missense in Polyphen9098.4140.914511034
Synonymous-1.071301151.130.00000742931
Loss of Function0.09311313.40.9739.31e-7105

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0006080.000605
Ashkenazi Jewish0.000.00
East Asian0.0001090.000109
Finnish0.00009630.0000924
European (Non-Finnish)0.0002120.000202
Middle Eastern0.0001090.000109
South Asian0.0002330.000229
Other0.0001700.000163

dbNSFP

Source: dbNSFP

Function
FUNCTION: Beta-1,3-N-acetylglucosaminyltransferase that plays a role in the elongation of specific branch structures of multiantennary N-glycans. Has strong activity towards tetraantennary N-glycans and 2,6 triantennary glycans. {ECO:0000269|PubMed:15620693, ECO:0000269|PubMed:15917431}.;
Pathway
Post-translational protein modification;Metabolism of proteins;O-linked glycosylation of mucins;O-linked glycosylation (Consensus)

Intolerance Scores

loftool
0.671
rvis_EVS
0.73
rvis_percentile_EVS
86.27

Haploinsufficiency Scores

pHI
0.117
hipred
N
hipred_score
0.170
ghis
0.462

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.0972

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
B3gnt8
Phenotype

Gene ontology

Biological process
protein glycosylation;O-glycan processing;poly-N-acetyllactosamine biosynthetic process
Cellular component
Golgi membrane;endoplasmic reticulum;Golgi apparatus;integral component of membrane;extracellular exosome
Molecular function
protein binding;acetylgalactosaminyltransferase activity;UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity;N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity;protein N-acetylglucosaminyltransferase activity