GENE REFERENCE / HGNC:13478

UBE3B

ubiquitin protein ligase E3B

protein-coding gene12q24.11Gene information

What does this gene do?

The UBE3B gene provides instructions for making a protein that plays a role in the ubiquitin-proteasome system, which is the cell machinery that breaks down (degrades) unwanted proteins.

The UBE3B protein is called an E3 ubiquitin ligase. E3 ubiquitin ligases function as part of the ubiquitin-proteasome system by forming part of a protein complex that tags damaged and excess proteins with molecules called ubiquitin. Ubiquitin serves as a signal to specialized cell structures known as proteasomes, which attach (bind) to the tagged proteins and degrade them. The ubiquitin-proteasome system acts as the cell's quality control system by disposing of damaged, misshapen, and excess proteins. This system also regulates the level of proteins involved in several critical cell activities such as the timing of cell division and growth. The specific proteins tagged by complexes involving the UBE3B protein are unknown, but research suggests that the protein functions in the nervous system, digestive tract, respiratory system, and other organs and tissues, from before birth into adulthood.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2017-01.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
oculocerebrofacial syndrome, Kaufman typeMONDO:0009485 · Evaluated 2021-07-30	Autosomal recessive	DefinitiveSyndromic Disorders Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 617
Submissions for variants in or overlapping this gene: 809
Submissions explicitly reporting this gene: 782
Alleles reported pathogenic / likely pathogenic: 77
VariationIDs with uncertain significance: 227
VariationIDs with conflicting classifications: 6

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about UBE3B?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 77 alleles in UBE3B reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in UBE3B.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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