NETWORK: N00017
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Entry
N00017 Network
Name
Mutation-activated SMO to Hedgehog signaling pathway
Definition
SMO* -> (SUFU+KIF7) // GLI => (BMP2/4,
HHIP,
GLI1,
PTCH,
WNT)
Expanded
6608v1 -> (51684+374654) // (2735,
2736,
2737) => (650,
652,
64399,
2735,
5727,
8643,
7471,
7472,
7482,
7473,
89780,
54361,
7474,
81029,
7475,
7476,
7477,
7478,
7479,
7483,
7484,
80326,
7480,
51384)
Class
nt06269
Basal cell carcinoma
nt06217
HH signaling (cancer)
Type
Variant
Pathway
hsa05217
Basal cell carcinoma
Disease
H00039
Basal cell carcinoma
Gene
6608
SMO; smoothened, frizzled class receptor
51684
SUFU; SUFU negative regulator of hedgehog signaling
374654
KIF7; kinesin family member 7
2735
GLI1; GLI family zinc finger 1
2736
GLI2; GLI family zinc finger 2
2737
GLI3; GLI family zinc finger 3
650
BMP2; bone morphogenetic protein 2
652
BMP4; bone morphogenetic protein 4
64399
HHIP; hedgehog interacting protein
5727
PTCH1; patched 1
8643
PTCH2; patched 2
7471
WNT1; Wnt family member 1
7472
WNT2; Wnt family member 2
7482
WNT2B; Wnt family member 2B
7473
WNT3; Wnt family member 3
89780
WNT3A; Wnt family member 3A
54361
WNT4; Wnt family member 4
7474
WNT5A; Wnt family member 5A
81029
WNT5B; Wnt family member 5B
7475
WNT6; Wnt family member 6
7476
WNT7A; Wnt family member 7A
7477
WNT7B; Wnt family member 7B
7478
WNT8A; Wnt family member 8A
7479
WNT8B; Wnt family member 8B
7483
WNT9A; Wnt family member 9A
7484
WNT9B; Wnt family member 9B
80326
WNT10A; Wnt family member 10A
7480
WNT10B; Wnt family member 10B
51384
WNT16; Wnt family member 16
Variant
6608v1
(SMO*) SMO mutation
Reference
PMID:
14737121
Authors
Pasca di Magliano M, Hebrok M.
Title
Hedgehog signalling in cancer formation and maintenance.
Journal
Nat Rev Cancer 3:903-11 (2003)
DOI:
10.1038/nrc1229
Reference
PMID:
12588368
Authors
Saldanha G, Fletcher A, Slater DN.
Title
Basal cell carcinoma: a dermatopathological and molecular biological update.
Journal
Br J Dermatol 148:195-202 (2003)
DOI:
10.1046/j.1365-2133.2003.05151.x
Reference
PMID:
15468170
Authors
Tsai KY, Tsao H.
Title
The genetics of skin cancer.
Journal
Am J Med Genet C Semin Med Genet 131C:82-92 (2004)
DOI:
10.1002/ajmg.c.30037
Reference
PMID:
20800318
Authors
Iwasaki JK, Srivastava D, Moy RL, Lin HJ, Kouba DJ
Title
The molecular genetics underlying basal cell carcinoma pathogenesis and links to targeted therapeutics.
Journal
J Am Acad Dermatol 66:e167-78 (2012)
DOI:
10.1016/j.jaad.2010.06.054
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