Home > Gene Browser > GAB2

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

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
54
Likely pathogenic
0
VUS
2,097
Likely benign
550
Benign
0

Patient phenotypes

Proportions of phenotypes among 53 patients carring pathogenic or likely pathogenic variants on GAB2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
32.1%
Abnormality of blood and blood-forming tissues
20.8%
Abnormality of the musculoskeletal system
20.8%
Abnormality of the cardiovascular system
18.9%
Abnormality of the eye
15.1%
Abnormality of head or neck
13.2%
Abnormality of the digestive system
13.2%
Abnormality of the genitourinary system
7.5%
Abnormality of the immune system
7.5%
Abnormality of the integument
7.5%
Growth abnormality
5.7%
Abnormality of limbs
3.8%
Abnormality of the ear
3.8%
Abnormality of the respiratory system
3.8%
Neoplasm
3.8%
Abnormality of prenatal development or birth
1.9%
Constitutional symptom
1.9%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

Have a question or need assistance? Ask here.

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