GRAP2
Description
The GRAP2 (GRB2 related adaptor protein 2) is a protein-coding gene located on chromosome 22.
GRAP2, also known as GRB2-related adapter downstream of Shc (GADS), is a 37 kDa protein encoded by the GRAP2 gene in humans. It belongs to the GRB2/Sem5/Drk family and acts as an adaptor-like protein involved in leukocyte-specific protein-tyrosine kinase signaling. Like its related family member GRAP, GRAP2 contains an SH2 domain flanked by two SH3 domains. These domains allow it to interact with other proteins, including GAB1 and SLP-76, through its SH3 domains. Alternative polyA sites lead to transcript variants.
GRAP2 interacts with SLP-76 to regulate NF-AT activation and binds to tyrosine-phosphorylated SHC.
GRAP2 is also known as GADS, GRAP-2, GRB2L, GRBLG, GRID, GRPL, GrbX, Grf40, Mona, P38.
Associated Diseases
- multiple sclerosis
- systemic lupus erythematosus
- combined immunodeficiency with skin granulomas
- immunodeficiency 79
- Okt4 epitope deficiency
- 22q11.2 deletion syndrome
- immunodeficiency 19
- severe combined immunodeficiency due to IKK2 deficiency
- T-cell immunodeficiency, congenital alopecia, and nail dystrophy
- T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant
- epidermodysplasia verruciformis
- neutropenia, severe congenital, 2, autosomal dominant
- common variable immunodeficiency
- X-linked severe congenital neutropenia
