NF2
|
Neurofibromin 2 |
22q12.2 |
Merlin |
Tumor suppressor |
Maintain cell shape by linkage cell membrane proteins to cytoskeleton |
TRAF7
|
TNF receptor-associated factor 7 |
16p13.3 |
TNF receptor-associated factor 7 |
E3 ubiquitin ligase |
Interaction with MAPK pathway |
KLF4
|
Kruppel-like factor 4 |
9p31 |
Kruppel-like factor 4 |
Transcription factor |
Induction of pluripotency |
AKT1
|
v-Akt murine thymoma viral oncogene homolog 1 |
14q32.33 |
AKT1 kinase (serine/threonine protein kinase) |
Oncogene |
Regulate cell growth and division, control apoptosis |
SMO
|
Smoothened, frizzled class receptor |
7p32.1 |
Smoothened, G protein-coupled receptor |
Activation of hedgehog pathway |
Cell growth, proliferation |
PIK3CA
|
Phosphadidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
3q26.32 |
Catalytic subunit of kinase, PI3K |
Activation of PI3K/AKT pathway |
POLR2A
|
RNA polymerase II subunit A |
17p13.1 |
RNA polymerase II subunit A |
Formation of preinitiation complex for transcription |
FAK
|
Focal adhesion kinase |
8q24.3 |
Protein tyrosine kinase2 |
Cytoplasmic tyrosine kinase |
Cellular proliferation and motility |
BAP1
|
BRCA1-associated protein 1 |
3p21.1 |
Ubiquitin carboxyl-terminal hydrolase 1 |
Deubiquitinase, tumor suppressor |
Control cell growth, division and cell death |
SMARCB1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
22q11.23 |
Subunit of SWI/SNF complex |
Tumor suppressor |
Regulate gene activity by chromatin remodeling |
SMARCE1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 |
17q21.2 |
Subunit of SWI/SNF complex |
Tumor suppressor |
Regulate gene activity by chromatin remodeling |
BRAF V600E
|
B-Raf proto-oncogene |
7q34 |
Serine/threonine kinase |
Oncogene |
Involved in MAPK pathway |
NOTCH2
|
Notch receptor 2 |
1p12 |
Notch2 (notch receptor family) |
Transmembrane receptor |
Involved in Notch signaling pathway |
CHEK2
|
Checkpoint kinase2 |
22q12.1 |
Checkpoint kinase 2 (CHK2) |
Tumor suppressor |
Regulate cell division |
PTEN
|
Phosphatase and tensin homolog |
10q23.31 |
Phosphatidylinositol-3,4,5-triphosphate 3-phosphatase |
Tumor suppressor |
Negative regulation of mTOR pathway |
CDKN2A
|
Cyclin-dependent kinase inhibitor 2A |
9p21.3 |
p16(INK4A) |
Tumor suppressor |
p14(ARF) |
Cell cycle progression (G1/S phase) |
CDKN2B
|
Cyclin-dependent kinase inhibitor 2B |
9p21.3 |
p15(INK4B) |
Tumor suppressor |
Cell cycle progression (G1/S phase) |
DMD
|
Dystrophin |
Xp21.1 |
Dystrophin |
Cytoskeletal construction, cell proliferation and motility |
TERTp
|
Telomerase reverse transcriptase |
5p15.33 |
Telomerase reverse transcriptase |
Maintain telomere end |