SYK Chromosome 9
Spleen associated tyrosine kinase
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What This Gene Does
This gene encodes a member of the family of non-receptor type Tyr protein kinases. This protein is widely expressed in hematopoietic cells and is involved in coupling activated immunoreceptors to downstream signaling events that mediate diverse cellular responses, including proliferation, differentiation, and phagocytosis. It is thought to be a modulator of epithelial cell growth and a potential tumour suppressor in human breast carcinomas. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
Gene Info
Gene Group
"SH2 domain containing|Syk family tyrosine kinases"
Locus Type
gene with protein product
Location
9q22.2
Ensembl
ENSG00000165025
Associated Conditions (7)
Decreased circulating immunoglobulin concentration
Arthritis
Skin rash
Colitis
Immunodeficiency
Immunodeficiency 82 with systemic inflammation
Joint swelling
Key Variants
RS1304839707
Likely pathogenic
Decreased circulating immunoglobulin concentration, Arthritis, Skin rash
Health Risk
RS1827861920
Likely pathogenic
Decreased circulating immunoglobulin concentration, Arthritis, Skin rash
Health Risk
RS1828636794
Pathogenic
Joint swelling, Skin rash, Immunodeficiency
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1304839707 | Health Risk | Likely pathogenic | Decreased circulating immunoglobulin concentration, Arthritis, Skin rash |
| RS1827861920 | Health Risk | Likely pathogenic | Decreased circulating immunoglobulin concentration, Arthritis, Skin rash |
| RS1828636794 | Health Risk | Pathogenic | Joint swelling, Skin rash, Immunodeficiency |