SH2 domain containing 1A
Annotations refreshed 10 hours ago.
Diagnostic Grade (Green)
COVID-19 research
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesGastrointestinal epithelial barrier disorders
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Haematological malignancies cancer susceptibility
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesHaematological malignancies for rare disease
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesInfantile enterocolitis & monogenic inflammatory bowel disease
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Lymphoproliferative syndrome with absent SAP expression
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesPrimary immunodeficiency or monogenic inflammatory bowel disease
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesX-linked lymphoproliferative disease
lymphoma
lymphoproliferative syndrome
X-linked lymphoproliferative syndrome
hereditary disease
autoinflammatory syndrome
neurodegenerative disease
tropical spastic paraparesis
infection
systemic lupus erythematosus
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
SH2 domain-containing protein 1A
Cytoplasmic adapter regulating receptors of the signaling lymphocytic activation molecule (SLAM) family such as SLAMF1, CD244, LY9, CD84, SLAMF6 and SLAMF7. In SLAM signaling seems to cooperate with SH2D1B/EAT-2. Initially it has been proposed that association with SLAMF1 prevents SLAMF1 binding to inhibitory effectors including INPP5D/SHIP1 and PTPN11/SHP-2 (PubMed:11806999). However, by simultaneous interactions, recruits FYN which subsequently phosphorylates and activates SLAMF1 (PubMed:12458214). Positively regulates CD244/2B4- and CD84-mediated natural killer (NK) cell functions. Can also promote CD48-, SLAMF6 -, LY9-, and SLAMF7-mediated NK cell activation. In the context of NK cell-mediated cytotoxicity enhances conjugate formation with target cells (By similarity). May also regulate the activity of the neurotrophin receptors NTRK1, NTRK2 and NTRK3
Curated MONDO disease pages that list SH2D1A among their top associated genes.
SH2D1A · O60880
Mean pLDDT
83.7/ 100
Confident
128 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
