Home > Gene Browser > UBE4B

UBE4B

Synonyms
E4, HDNB1, UBOX3, UFD2, UFD2A
External resources
Summary
The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes an additional conjugation factor, E4, which is involved in multiubiquitin chain assembly. This gene is also the strongest candidate in the neuroblastoma tumor suppressor genes. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
4
Likely pathogenic
0
VUS
6,969
Likely benign
1,389
Benign
0

Patient Phenotypes

Proportions of phenotypes among 4 patients carrying pathogenic or likely pathogenic variants on UBE4B gene are displayed below. The following symptoms were found in patients with a variant in UBE4B. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
75%
Abnormality of blood and blood forming tissues
50%
Abnormality of limbs
50%
Abnormality of the cardiovascular system
50%
Abnormality of the immune system
50%
Abnormality of the musculoskeletal system
50%
Abnormality of the nervous system
50%
Growth abnormality
50%
Abnormality of the digestive system
25%
Abnormality of the endocrine system
25%
Abnormality of the integument
25%
Abnormality of the respiratory system
25%
Neoplasm
25%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the eye
0%
Abnormality of the genitourinary system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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