PTCH2
entrez
8643
canonical
uniprot
Q9Y6C5
canonical
ensembl
ENSG00000117425
resolver
ensp
ENSP00000361266
resolver
ensp
ENSP00000389703
resolver
genesymbol
PTCH2
resolver
hgnc
HGNC:9586
resolver
uniprot
O95341
resolver
uniprot
O95856
resolver
uniprot
Q53Z57
resolver
uniprot
Q5QP87
resolver
uniprot
Q6UX14
resolver
uniprot_entry
PTC2_HUMAN
resolver
uniprot_sec
O95341
resolver
uniprot_sec
O95856
resolver
uniprot_sec
Q53Z57
resolver
uniprot_sec
Q5QP87
resolver
uniprot_sec
Q6UX14
resolver
amino_acid_sequence
MTRSPPLRELPPSYTPPARTAAPQILAGSLKAPLWLRAYFQGLLFSLGCGIQRHCGKVLFLGLLAFGALALGLRMAIIETNLEQLWVEVGSRVSQELHYTKEKLGEEAAYTSQMLIQTARQEGENILTPEALGLHLQAALTASKVQVSLYGKSWDLNKICYKSGVPLIENGMIERMIEKLFPCVILTPLDCFWEGAKLQGGSAYLPGRPDIQWTNLDPEQLLEELGPFASLEGFRELLDKAQVGQAYVGRPCLHPDDLHCPPSAPNHHSRQAPNVAHELSGGCHGFSHKFMHWQEELLLGGMARDPQGELLRAEALQSTFLLMSPRQLYEHFRGDYQTHDIGWSEEQASTVLQAWQRRFVQLAQEALPENASQQIHAFSSTTLDDILHAFSEVSAARVVGGYLLMLAYACVTMLRWDCAQSQGSVGLAGVLLVALAVASGLGLCALLGITFNAATTQVLPFLALGIGVDDVFLLAHAFTEALPGTPLQERMGECLQRTGTSVVLTSINNMAAFLMAALVPIPALRAFSLQAAIVVGCTFVAVMLVFPAILSLDLRRRHCQRLDVLCCFSSPCSAQVIQILPQELGDGTVPVGIAHLTATVQAFTHCEASSQHVVTILPPQAHLVPPPSDPLGSELFSPGGSTRDLLGQEEETRQKAACKSLPCARWNLAHFARYQFAPLLLQSHAKAIVLVLFGALLGLSLYGATLVQDGLALTDVVPRGTKEHAFLSAQLRYFSLYEVALVTQGGFDYAHSQRALFDLHQRFSSLKAVLPPPATQAPRTWLHYYRNWLQGIQAAFDQDWASGRITRHSYRNGSEDGALAYKLLIQTGDAQEPLDFSQLTTRKLVDREGLIPPELFYMGLTVWVSSDPLGLAASQANFYPPPPEWLHDKYDTTGENLRIPPAQPLEFAQFPFLLRGLQKTADFVEAIEGARAACAEAGQAGVHAYPSGSPFLFWEQYLGLRRCFLLAVCILLVCTFLVCALLLLNPWTAGLIVLVLAMMTVELFGIMGFLGIKLSAIPVVILVASVGIGVEFTVHVALGFLTTQGSRNLRAAHALEHTFAPVTDGAISTLLGLLMLAGSHFDFIVRYFFAALTVLTLLGLLHGLVLLPVLLSILGPPPEVIQMYKESPEILSPPAPQGGGLRWGASSSLPQSFARVTTSMTVAIHPPPLPGAYIHPAPDEPPWSPAATSSGNLSSRGPGPATG
uniprot
proteins
disease_involvement
DISEASE: Medulloblastoma (MDB) [MIM:155255]: Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children. {ECO:0000269|PubMed:9931336}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.; DISEASE: 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. {ECO:0000269|PubMed:9931336}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Negative regulator of the smoothened signaling pathway, which acts as a receptor for hedgehog (SHH, IHH and DHH) morphogens (PubMed:9811851). In absence of hedgehog, acts as an inhibitor of smoothened protein (SMO) by preventing SMO access to cholesterol: mechanistically, acts as a cholesterol transporter, which depeletes cholesterol from the outer leaflet of plasma membrane, thereby preventing cholesterol-binding to the extracellular CRD region of SMO. Hedgehog-binding inhibits PTCH1 cholesterol transporter activity, promoting SMO activation by cholesterol and transduction of the smoothened signaling pathway. Molecular mechanism governing cholesterol transport are still unclear: may move cholesterol from the outer to the inner leaflet of the membrane in exchange for potassium or sodium ion export in the opposite direction (By similarity). In contrast to PTCH1 ortholog, PTCH2 is not essential for viability and plays a more limited role. Plays a role in epidermal homeostasis in mature skin (By similarity). Plays a role in the control of cellular growth (PubMed:18285427). {ECO:0000250|UniProtKB:O35595, ECO:0000250|UniProtKB:Q61115, ECO:0000269|PubMed:18285427, ECO:0000269|PubMed:9811851}.
uniprot
proteins
mass_dalton
130544
uniprot
proteins
protein_family
Patched family
uniprot
proteins
pubmed
10029063
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
18285427
uniprot
proteins
pubmed
9811851
uniprot
proteins
pubmed
9931336
uniprot
proteins
sequence_length
1203
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q61115}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q61115}. Cell projection, cilium membrane {ECO:0000250|UniProtKB:Q61115}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q61115}. Note=Localizes to primary cilium and prevents cilium localization of SMO. Delocalizes from primary cilium following hedgehog-binding. {ECO:0000250|UniProtKB:Q61115}.
uniprot
proteins
transmembrane_region
TRANSMEM 58..78; /note="Helical; Name=TM1"; /evidence="ECO:0000255"; TRANSMEM 393..413; /note="Helical; Name=TM2"; /evidence="ECO:0000255"; TRANSMEM 429..449; /note="Helical; Name=TM3"; /evidence="ECO:0000255"; TRANSMEM 458..478; /note="Helical; Name=TM4"; /evidence="ECO:0000255"; TRANSMEM 502..522; /note="Helical; Name=TM5"; /evidence="ECO:0000255"; TRANSMEM 532..552; /note="Helical; Name=TM6"; /evidence="ECO:0000255"; TRANSMEM 687..707; /note="Helical; Name=TM7"; /evidence="ECO:0000255"; TRANSMEM 964..984; /note="Helical; Name=TM8"; /evidence="ECO:0000255"; TRANSMEM 992..1012; /note="Helical; Name=TM9"; /evidence="ECO:0000255"; TRANSMEM 1014..1034; /note="Helical; Name=TM10"; /evidence="ECO:0000255"; TRANSMEM 1065..1085; /note="Helical; Name=TM11"; /evidence="ECO:0000255"; TRANSMEM 1094..1114; /note="Helical; Name=TM12"; /evidence="ECO:0000255
uniprot
proteins