Home > Gene Browser > CD3G

CD3G

Synonyms
CD3-GAMMA, CD3GAMMA, IMD17, T3G
External resources
Summary
The protein encoded by this gene is the CD3-gamma polypeptide, which together with CD3-epsilon, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. Defects in this gene are associated with T cell immunodeficiency.

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
34
Likely pathogenic
0
VUS
10,573
Likely benign
1,139
Benign
46

Patient phenotypes

Proportions of phenotypes among 31 patients carrying pathogenic or likely pathogenic variants on CD3G gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
25.8%
Abnormality of the nervous system
25.8%
Abnormality of the eye
22.6%
Abnormality of the musculoskeletal system
19.4%
Abnormality of the ear
16.1%
Abnormality of the genitourinary system
16.1%
Abnormality of the immune system
9.7%
Abnormality of the integument
9.7%
Growth abnormality
9.7%
Abnormality of blood and blood-forming tissues
6.5%
Abnormality of head or neck
6.5%
Abnormal cellular phenotype
3.2%
Abnormality of limbs
3.2%
Abnormality of the digestive system
3.2%
Abnormality of the respiratory system
3.2%
Constitutional symptom
3.2%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
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