Home > Gene Browser > EIF2B3
EIF2B3
- Synonyms
- EIF-2B, EIF2Bgamma
- External resources
- NCBI8891
- OMIM606273
- EnsemblENSG00000070785
- HGNCHGNC:3259
- Summary
- The protein encoded by this gene is one of the subunits of initiation factor eIF2B, which catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP. It has also been found to function as a cofactor of hepatitis C virus internal ribosome entry site-mediated translation. Mutations in this gene have been associated with leukodystrophy with vanishing white matter. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Variant counts
The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.
- Pathogenic
- 7
- Likely pathogenic
- 2
- VUS
- 6,884
- Likely benign
- 927
- Benign
- 91
Patient phenotypes
Proportions of phenotypes among 9 patients carrying pathogenic or likely pathogenic variants on EIF2B3 gene are displayed below.
- Phenotype class
- Patients in 3billion (%)
- Abnormality of the nervous system
- 88.9%
- Abnormality of the musculoskeletal system
- 77.8%
- Abnormality of head or neck
- 66.7%
- Abnormality of the integument
- 33.3%
- Abnormality of limbs
- 22.2%
- Abnormality of the cardiovascular system
- 22.2%
- Abnormality of the ear
- 22.2%
- Growth abnormality
- 22.2%
- Abnormality of prenatal development or birth
- 11.1%
- Abnormality of the eye
- 11.1%
- Abnormality of the genitourinary system
- 11.1%
- Abnormal cellular phenotype
- 0%
- Abnormality of blood and blood-forming tissues
- 0%
- Abnormality of metabolism homeostasis
- 0%
- Abnormality of the breast
- 0%
- Abnormality of the digestive system
- 0%
- Abnormality of the endocrine system
- 0%
- Abnormality of the immune system
- 0%
- Abnormality of the respiratory system
- 0%
- Abnormality of the thoracic cavity
- 0%
- Abnormality of the voice
- 0%
- Constitutional symptom
- 0%
- Neoplasm
- 0%
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