HCK Chromosome 20
HCK proto-oncogene, Src family tyrosine kinase
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What This Gene Does
The protein encoded by this gene is a member of the Src family of tyrosine kinases. This protein is primarily hemopoietic, particularly in cells of the myeloid and B-lymphoid lineages. It may help couple the Fc receptor to the activation of the respiratory burst. In addition, it may play a role in neutrophil migration and in the degranulation of neutrophils. Multiple isoforms with different subcellular distributions are produced due to both alternative splicing and the use of alternative translation initiation codons, including a non-AUG (CUG) codon. [provided by RefSeq, Feb 2010]
Gene Info
Gene Group
"SH2 domain containing|Src family tyrosine kinases"
Locus Type
gene with protein product
Location
20q11.21
Ensembl
ENSG00000101336
Associated Conditions (1)
Autoinflammation with pulmonary and cutaneous vasculitis
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS957448914 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1600755957 | Health Risk | Likely pathogenic | — |
| RS2046034449 | Health Risk | Pathogenic | Autoinflammation with pulmonary and cutaneous vasculitis, Autoinflammation with pulmonary and cutaneous vasculitis |