homolog of drosophila patched protein 2 (PTC2, PTCH2)

Function: - may have a role in epidermal development - may act as a receptor for Sonic hedgehog (SHH) Structure: - belongs to the patched family - contains 1 SSD (sterol-sensing) domain Compartment: membrane Alternative splicing: named isoforms=2 Pathology: - defects in PTCH2 are a cause of a) medulloblastoma b) sporadic basal cell carcinoma (BCC)

Properties

SIZE: MW = 131 kD entity length = 1203 aa COMPARTMENT: cellular membrane MOTIF: cytoplasmic domain {1-57} transmembrane domain {58-78} exoplasmic loop {79-392} MOTIF: N-glycosylation site {N370} transmembrane domain {393-413} cytoplasmic loop {414-428} transmembrane domain {429-449} exoplasmic loop {450-457} transmembrane domain {458-478} cytoplasmic loop {479-501} transmembrane domain {502-522} exoplasmic loop {523-531} transmembrane domain {532-552} cytoplasmic loop {553-686} transmembrane domain {687-707} exoplasmic loop {708-963} MOTIF: N-glycosylation site {N812} transmembrane domain {964-984} cytoplasmic loop {985-991} transmembrane domain {992-1012} exoplasmic loop {1013-1013} transmembrane domain {1014-1034} cytoplasmic loop {1035-1064} transmembrane domain {1065-1085} exoplasmic loop {1086-1093} transmembrane domain {1094-1114} cytoplasmic domain {1115-1203}

Database Correlations

OMIM correlations UniProt Q9Y6C5 Pfam PF02460 Entrez Gene 8643 Kegg hsa:8643