TAG for PTCH2

Gene content

Symbol

PTCH2 ( by HUGO)

Name

Patched

Category

Tumor suppressor gene

Alias

Patched 2
PTC2
Patched (Drosophila) Homolog 2
Patched Homolog 2 (Drosophila)
Patched Homolog 2
Protein Patched Homolog 2

Cytogenetic band

NCBI: 1p34.1 Ensembl: 1p34.1

Protein information

PTC2_HUMAN

Size: 1203 amino acids

Mass: 130544 Da

Function:

UniProtKB/Swiss-Prot Summary: PTC2_HUMAN, Q9Y6C5 Function: May have a role in epidermal development. May act as a receptor for Sonic hedgehog (SHH)

Similarity:

Belongs to the patched family

Contains 1 SSD (sterol-sensing) domain [IMAGE]

Protein Domain/Family
Source	ID	Domain	Name	Type
InterPro	IPR000731	SSD	Sterol-sensing 5TM box	Domain
	IPR003392	Patched	Patched	Family
	IPR004766	TM_rcpt_patched	Patched transmembrane receptor	Family
Blocks	IPB003392	Patched family	Patched family

Gene Ontology
Type	Term	Evidence	Source	Pub
Biological Process	negative regulation of smoothened signaling pathway	TAS	GOA	11001584
Biological Process	signal transduction	TAS	GOA	11001584
Molecular Function	hedgehog receptor activity	TAS	GOA	11001584
Molecular Function	smoothened binding	IPI	GOA	9811851

Disorder & Mutation
Source	Disease
SWISS-PROT	Medulloblastoma (MDB) [MIM:155255]: Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children. Note=The disease is caused by mutations affecting the gene represented in this entry
SWISS-PROT	Basal cell carcinoma (BCC) [MIM:605462]: A common malignant skin neoplasm that typically appears on hair-bearing skin, most commonly on sun-exposed areas. BCC is slow growing and rarely metastasizes, but has potentialities for local invasion and destruction. It usually develops as a flat, firm, pale area that is small, raised, pink or red, translucent, shiny, and waxy, and the area may bleed following minor injury. Tumor size can vary from a few millimeters to several centimeters in diameter. Note=The disease is caused by mutations affecting the gene represented in this entry

PTCH2 cross reference