The RAS/MAPK Syndromes Homepage

原因遺伝子・蛋白質と対応する疾患

Gene
symbol
Protein OMIM Number of
exons
(coding
exons)
Chromosome
location
Germline
mutations
Somatic
mutations
HRAS HRAS 190020 6(5) 11p15.5 Costello Bladder carcinoma
KRAS KRAS 190070 6(5) 12p12.1 Noonan, CFC Lung,
colon and
pancreatic cancer
BRAF BRAF 164757 18(18) 7q34 CFC Malignant melanoma,
colon cancer,
thyroid cancer
MAP2K1 MEK1 176872 11(11) 15q22 CFC
MAP2K2 MEK2 601263 11(11) 19p13.3 CFC
PTPN11 SHP-2 176876 16(15) 12q24.1 Noonan,
LEOPARD
JMML, AML, ALL,
MDS,CML,
solid tumors