PTCH1 (Entrez ID: 5727)

Entrez Gene ID	5727
Official Gene Symbol	PTCH1 (GeneCards)
Full name	patched 1
Location	9q22.32
Other ids	Vega : OTTHUMG00000020280 MIM : 601309 HGNC : HGNC:9585 Ensembl : ENSG00000185920
Other names	PTC, BCNS, PTC1, PTCH, NBCCS
Summary	This gene encodes a member of the patched family of proteins and a component of the hedgehog signaling pathway. Hedgehog signaling is important in embryonic development and tumorigenesis. The encoded protein is the receptor for the secreted hedgehog ligands, which include sonic hedgehog, indian hedgehog and desert hedgehog. Following binding by one of the hedgehog ligands, the encoded protein is trafficked away from the primary cilium, relieving inhibition of the G-protein-coupled receptor smoothened, which results in activation of downstream signaling. Mutations of this gene have been associated with basal cell nevus syndrome and holoprosencephaly. [provided by RefSeq, Aug 2017]

Variants

Found 32 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
13002	5727	PTCH1	9	98415872	98415872	Asymptomatic	HiSeq X Ten
13179	5727	PTCH1	9	98475633	98475633	Asymptomatic	HiSeq X Ten
13591	5727	PTCH1	9	98496954	98496954	Asymptomatic	HiSeq X Ten
13815	5727	PTCH1	9	98238565	98238565	Xeroderma Pigmentosum	HiSeq X Ten
13816	5727	PTCH1	9	98491196	98491196	Xeroderma Pigmentosum	HiSeq X Ten
23448	5727	PTCH1	9	98369821	98369821	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
30967	5727	PTCH1	9	98231135	98231135	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30968	5727	PTCH1	9	98211495	98211495	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30969	5727	PTCH1	9	98220315	98220316	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30970	5727	PTCH1	9	98211495	98211495	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
30971	5727	PTCH1	9	98231326	98231326	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32267	5727	PTCH1	9	98248088	98248088	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32268	5727	PTCH1	9	98209615	98209615	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32269	5727	PTCH1	9	98242840	98242840	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32270	5727	PTCH1	9	98232094	98232094	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32271	5727	PTCH1	9	98239956	98239956	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32272	5727	PTCH1	9	98239859	98239859	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32273	5727	PTCH1	9	98209215	98209215	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32274	5727	PTCH1	9	98231090	98231090	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32275	5727	PTCH1	9	98239115	98239115	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32276	5727	PTCH1	9	98241428	98241428	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32277	5727	PTCH1	9	98238339	98238339	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32278	5727	PTCH1	9	98209553	98209553	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32279	5727	PTCH1	9	98242836	98242836	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32280	5727	PTCH1	9	98239928	98239928	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
32281	5727	PTCH1	9	98218630	98218630	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33567	5727	PTCH1	9	98247962	98247962	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33568	5727	PTCH1	9	98239977	98239977	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33569	5727	PTCH1	9	98247962	98247962	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33570	5727	PTCH1	9	98215837	98215837	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33571	5727	PTCH1	9	98211354	98211354	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel
33572	5727	PTCH1	9	98229629	98229629	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning NGS gene panel