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GAB2

Synonyms
-
External resources
Summary
This gene is a member of the GRB2-associated binding protein (GAB) gene family. These proteins contain pleckstrin homology (PH) domain, and bind SHP2 tyrosine phosphatase and GRB2 adapter protein. They act as adapters for transmitting various signals in response to stimuli through cytokine and growth factor receptors, and T- and B-cell antigen receptors. The protein encoded by this gene is the principal activator of phosphatidylinositol-3 kinase in response to activation of the high affinity IgE receptor. Two alternatively spliced transcripts encoding different isoforms have been described 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
58
Likely pathogenic
45
VUS
3,862
Likely benign
1,767
Benign
0

Patient phenotypes

Proportions of phenotypes among 102 patients carrying pathogenic or likely pathogenic variants on GAB2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
21.6%
Abnormality of the cardiovascular system
14.7%
Abnormality of blood and blood-forming tissues
11.8%
Abnormality of the musculoskeletal system
11.8%
Abnormality of the digestive system
9.8%
Abnormality of head or neck
8.8%
Abnormality of the eye
7.8%
Abnormality of the integument
7.8%
Abnormality of the genitourinary system
6.9%
Abnormality of the immune system
6.9%
Growth abnormality
4.9%
Abnormality of limbs
3.9%
Abnormality of the endocrine system
3.9%
Neoplasm
3.9%
Abnormality of prenatal development or birth
2.9%
Abnormality of the ear
2.9%
Abnormality of the respiratory system
2.9%
Constitutional symptom
2%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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