Target List
Mutated in Non-Motile Cilia Diseases
AHI1, ALMS1, ARL13B, ARL6, BBS1, BBS2, BBS4, BBS7, CC2D2A, Cep290, GLIS2, HNF1B, INVS, IQCB1, MKKS, MKS1, NEK8, NPHP1, NPHP3, PKD1, PKD2, PKHD1, RPGRIP1L, TMEM67 (MKS3), TTC8
Intraflagellar Transport (IFT)
DYNC2LI1, IFT172, IFT20, IFT74, IFT80, IFT88, KIF3A, KIF3B
Cilium Morphogenesis
ALMS1, ARL6, BBS1, BBS2, BBS4, BBS7, IFT172, IFT88, MKKS, OFD1, PKHD1, RPGRIP1L, VANGL2, WWTR1
Signal Transduction
Hedgehog Signaling
BTRC (bTrCP), FUZ, GLI1, GLI2, GLI3, GSK3B, IHH, INTU, LRP2, PTCH1, RAB23, SHH, SMO, SUFU
cAMP Signaling
ADCY3, ADCY7, AVPR2, HTR6, PKD2, SSTR3
mTOR Signaling
AKT1, CDC42, GSK3B, IGF1, INS, MAPK1 (ERK2), MTOR, PIK3CA (p110-alpha), PRKCA, RHOA, TP53 (p53), TSC1, TSC2
Planar Cell Polarity (PCP)
DVL1, FAT4, FJX1, FUZ, FZD1, INTU, RHOA, ROCK2, VANGL2, WNT9B
WNT Signaling
AXIN2, INVS
PDGFRA / Integrin Signaling
ITGB1, PDGFRA
BRAF / MEK / ERK
FOS, KRAS, MAP2K1, MAPK1 (ERK2), MOS, PRKCA, PTPN5
Cell Cycle
AKT1, BBS4, CCND1, CDK5RAP2, CDKN1A (p21CIP1, WAF1), IGF1, INS, MAP2K1, PKD1, PKD2, TP53 (p53)