Home > Gene Browser > EIF4G3

EIF4G3

Synonyms
eIF-4G 3, eIF4G 3, eIF4GII
External resources
Summary
The protein encoded by this gene is thought to be part of the eIF4F protein complex, which is involved in mRNA cap recognition and transport of mRNAs to the ribosome. Interestingly, a microRNA (miR-520c-3p) has been found that negatively regulates synthesis of the encoded protein, and this leads to a global decrease in protein translation and cell proliferation. Therefore, this protein is a key component of the anti-tumor activity of miR-520c-3p.

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
4
Likely pathogenic
22
VUS
13,626
Likely benign
20,254
Benign
0

Patient phenotypes

Proportions of phenotypes among 26 patients carrying pathogenic or likely pathogenic variants on EIF4G3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
38.5%
Abnormality of the nervous system
30.8%
Abnormality of the musculoskeletal system
26.9%
Abnormality of the integument
23.1%
Abnormality of the ear
19.2%
Abnormality of head or neck
15.4%
Abnormality of limbs
15.4%
Growth abnormality
11.5%
Abnormality of prenatal development or birth
7.7%
Abnormality of the digestive system
7.7%
Abnormality of the cardiovascular system
3.8%
Abnormality of the genitourinary system
3.8%
Abnormality of the respiratory system
3.8%
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 endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes