Gene Report
Basic Info
Approved Symbol |
PTCH1
|
Previous Symbol |
NBCCS, PTCH |
Symbol Alias |
BCNS |
Approved Name |
patched 1 |
Previous Name |
patched (Drosophila) homolog, "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)" |
Location |
9q22.1-q31 |
Position |
chr9:98205262-98279339, - |
External Links |
HGNC: 9585
Entrez Gene: 5727
Ensembl: ENSG00000185920
UCSC: uc004avk.3
|
No. of Studies |
0 (significant: 0; non-significant: 0; trend: 0) |
Source |
Mapped by significant region |
Gene related studies (count: 0)
Gene related SNPs (count: 0)
Gene related CNVs (count: 0)
Gene related other variant (count: 0)
Gene related regions (count: 1)
Gene related GO terms (count: 54)
Gene related KEGG pathways (count: 3)
ID |
Name |
No. of Genes in ADHDgene |
Brief Description |
hsa04340 |
Hedgehog signaling pathway |
8 |
The Hedgehog (Hh) family of secreted signaling proteins play......
The Hedgehog (Hh) family of secreted signaling proteins plays a crucial role in development of diverse animal phyla, from Drosophila to humans, regulating morphogenesis of a variety of tissues and organs. Hh signaling is also involved in control of stem cell proliferation in adult tissues and aberrant activation of the Hh pathway has been linked to multiple types of human cancer. Members of the Hh family bind to patched (ptc), thus releasing smoothened (smo) to transduce a signal. Transcriptional activation occurs through the GLI family of proteins resulting in activation of target genes.
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|
hsa05217 |
Basal cell carcinoma |
8 |
Cancer of the skin is the most common cancer in Caucasians a......
Cancer of the skin is the most common cancer in Caucasians and basal cell carcinomas (BCC) account for 90% of all skin cancers. The vast majority of BCC cases are sporadic, though there is a rare familial syndrome basal cell nevus syndrome (BCNS, or Gorlin syndrome) that predisposes to development of BCC. In addition, there is strong epidemiological and genetic evidence that demonstrates UV exposure as a risk factor of prime importance. The development of basal cell carcinoma is associated with constitutive activation of sonic hedgehog signaling. The mutations in SMOH, PTCH1, and SHH in BCCs result in continuous activation of target genes. At a cellular level, sonic hedgehog signaling promotes cell proliferation. Mutations in TP53 are also found with high frequency (>50%) in sporadic BCC.
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|
hsa05200 |
Pathways in cancer |
52 |
|
Genes shared at least 5 GO terms with PTCH1 (count: 17)
Genes shared at least 2 KEGG pathways with PTCH1 (count: 7)
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