Hs01060780_cn

• Gene Symbol: PTCH2
• Assay Reference Genome Location: Chr.1:44828100 on build GRCh38
• Cytoband: 1p34.1

Target Gene Details

• Entrez Gene ID: 8643
• Gene Name: patched 2
• Gene Aliases: PTC2
• Location: Chr.1:44819844-44842944 on Build GRCh38
• Assay Gene Location: Within Exon 14

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PTCH2	NM_001166292.1	14	1813	NP_001159764.1
	NM_003738.4	14	1813	NP_003729.3
	AF087651.1	14	1801	AAD25953.1
	AF091501.1	14	1801	AAC79847.1
	AF119569.1	14	1813	AAD17260.1
	AK307168.1	3	478
	AY358555.1	14	1801	AAQ88919.1
	AY359016.1	14	1805	AAQ89375.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv546146	Chr.1:44792469 - 44853080 on Build GRCh38	Loss	BTBD19 TCTEX1D4 EIF2B3 PTCH2 PLK3 BEST4

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

cell fate determination
signal transduction
epidermal cell fate specification
hair cycle
skin development
positive regulation of epidermal cell differentiation
negative regulation of smoothened signaling pathway

Function(s)

smoothened binding
hedgehog receptor activity
hedgehog family protein binding