Cancer, immune disorders

Influenza (FLU); Pneumococcal meningitis

Pneumococcal Meningitis is a rare infectious disorder caused by streptococcus pneumonia, and an important gene related to this disorder is Src.
 

Sarcomas; Colon cancer; Breast cancer; Agammaglobulinemias (IGHM); Cherubism (CRBM); Estrogen-receptor negative breast cancer; Differentiating neuroblastomas; Colon cancer, advanced, somatic

SRC is a known oncoprotein (OP). Although mutations that increase the catalytic activity of SRC are well known, such as loss of the inhibitory tyrosine phosphorylation site at the C-terminus of the kinase, it is not subject to higher rates of mutations in human tumours than most proteins. The active form of the protein kinase normally acts to promote tumour cell proliferation. Agammaglobulinemia (IGHM) is considered a rare cancer immune disease which can be characterized by liver enlargement, monoclonal immunoglobulin, and infiltration of the bone marrow. Cherubism (CRBM) is a rare cancer characterized by malformation of bones in the lower portion of the face. CRBM results in bone being replaced by cyst-like growths resulting in enlarged features. CRBM can affect bone, B cells, and testes.
 

TranscriptoNET (www.transcriptonet.ca) analysis with mRNA expression data retrieved from the National Center for Biotechnology Information's Gene Expression Omnibus (GEO) database, which was normalized against 60 abundantly and commonly found proteins, indicated altered expression for this protein kinase as shown here as the percent change from normal tissue controls (%CFC) as supported with the Student T-test in human Cervical cancer stage 2A (%CFC= -67, p<0.083). The COSMIC website notes an up-regulated expression score for SRC in diverse human cancers of 734, which is 1.6-fold of the average score of 462 for the human protein kinases. The down-regulated expression score of 43 for this protein kinase in human cancers was 0.7-fold of the average score of 60 for the human protein kinases.

Insertional mutagenesis studies in mice support a role for this protein kinase in mouse cancer oncogenesis. Src phosphotransferase activity can be abrogated with a K298M mutation.

Percent mutation rates per 100 amino acids length in human cancers: 0.07 % in 27329 diverse cancer specimens. This rate is only -12 % lower than the average rate of 0.075 % calculated for human protein kinases in general.

Highest percent mutation rates per 100 amino acids length in human cancers: 0.32 % in 809 skin cancers tested; 0.27 % in 2249 large intestine cancers tested.

Most frequent mutations with the number of reports indicated in brackets: Q531* (11).

Only 2 deletions, and no insertions or complex mutations are noted on the COSMIC website.