Gene Gene information from NCBI Gene database.
Entrez ID 8643
Gene name Patched 2
Gene symbol PTCH2
Synonyms (NCBI Gene)
PTC2SLC65B2
Chromosome 1
Chromosome location 1p34.1
Summary This gene encodes a transmembrane receptor of the patched gene family. The encoded protein may function as a tumor suppressor in the hedgehog signaling pathway. Alterations in this gene have been associated with nevoid basal cell carcinoma syndrome, basal
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs56126236 GA>- Pathogenic, conflicting-interpretations-of-pathogenicity, likely-benign Stop gained, coding sequence variant
rs121434397 C>T Pathogenic Missense variant, coding sequence variant
rs587776628 G>A Pathogenic Intron variant
miRNA miRNA information provided by mirtarbase database.
168
miRTarBase ID miRNA Experiments Reference
MIRT498821 hsa-miR-4484 PAR-CLIP 20371350
MIRT508529 hsa-miR-6074 PAR-CLIP 20371350
MIRT498820 hsa-miR-4787-3p PAR-CLIP 20371350
MIRT498819 hsa-miR-6845-3p PAR-CLIP 20371350
MIRT498818 hsa-miR-6873-3p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0001558 Process Regulation of cell growth IMP 18285427
GO:0001709 Process Cell fate determination IEA
GO:0005119 Function Smoothened binding IBA
GO:0005119 Function Smoothened binding IEA
GO:0005119 Function Smoothened binding IPI 9811851
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603673 9586 ENSG00000117425
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y6C5
Protein name Protein patched homolog 2 (PTC2)
Protein function Plays a role in the control of cellular growth (PubMed:18285427). May have a role in epidermal development. May act as a receptor for Sonic hedgehog (SHH).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12349 Sterol-sensing 418 570 Sterol-sensing domain of SREBP cleavage-activation Family
PF02460 Patched 903 1116 Patched family Family
Sequence
MTRSPPLRELPPSYTPPARTAAPQILAGSLKAPLWLRAYFQGLLFSLGCGIQRHCGKVLF
LGLLAFGALALGLRMAIIETNLEQLWVEVGSRVSQELHYTKEKLGEEAAYTSQMLIQTAR
QEGENILTPEALGLHLQAALTASKVQVSLYGKSWDLNKICYKSGVPLIENGMIERMIEKL
FPCVILTPLDCFWEGAKLQGGSAYLPGRPDIQWTNLDPEQLLEELGPFASLEGFRELLDK
AQVGQAYVGRPCLHPDDLHCPPSAPNHHSRQAPNVAHELSGGCHGFSHKFMHWQEELLLG
GMARDPQGELLRAEALQSTFLLMSPRQLYEHFRGDYQTHDIGWSEEQASTVLQAWQRRFV
QLAQEALPENASQQIHAFSSTTLDDILHAFSEVSAARVVGGYLLMLAYACVTMLRWDCAQ
SQGSVGLAGVLLVALAVASGLGLCALLGITFNAATTQVLPFLALGIGVDDVFLLAHAFTE
ALPGTPLQERMGECLQRTGTSVVLTSINNMAAFLMAALVPIPALRAFSLQAAIVVGCTFV
AVMLVFPAILSLDLRRRHCQRLDVLCCFSS
PCSAQVIQILPQELGDGTVPVGIAHLTATV
QAFTHCEASSQHVVTILPPQAHLVPPPSDPLGSELFSPGGSTRDLLGQEEETRQKAACKS
LPCARWNLAHFARYQFAPLLLQSHAKAIVLVLFGALLGLSLYGATLVQDGLALTDVVPRG
TKEHAFLSAQLRYFSLYEVALVTQGGFDYAHSQRALFDLHQRFSSLKAVLPPPATQAPRT
WLHYYRNWLQGIQAAFDQDWASGRITRHSYRNGSEDGALAYKLLIQTGDAQEPLDFSQLT
TRKLVDREGLIPPELFYMGLTVWVSSDPLGLAASQANFYPPPPEWLHDKYDTTGENLRIP
PAQPLEFAQFPFLLRGLQKTADFVEAIEGARAACAEAGQAGVHAYPSGSPFLFWEQYLGL
RRCFLLAVCILLVCTFLVCALLLLNPWTAGLIVLVLAMMTVELFGIMGFLGIKLSAIPVV
ILVASVGIGVEFTVHVALGFLTTQGSRNLRAAHALEHTFAPVTDGAISTLLGLLMLAGSH
FDFIVRYFFAALTVLTLLGLLHGLVLLPVLLSILGP
PPEVIQMYKESPEILSPPAPQGGG
LRWGASSSLPQSFARVTTSMTVAIHPPPLPGAYIHPAPDEPPWSPAATSSGNLSSRGPGP
ATG
Sequence length 1203
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Hedgehog signaling pathway
Pathways in cancer
Basal cell carcinoma
 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1162
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Basal cell carcinoma, somatic Pathogenic rs587776628 RCV000006521
Basal cell carcinoma, susceptibility to, 1 Pathogenic rs2521979430 RCV003992761
Familial cancer of breast Likely pathogenic rs771498368 RCV003315494
Gorlin syndrome Pathogenic rs2521979430 RCV003322681
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Adrenocortical carcinoma, hereditary Benign rs2295997 RCV005909586
Basal cell nevus syndrome 1 Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity rs761307519, rs765876309, rs121434397, rs144193647, rs111471526, rs11573588, rs11573586, rs35851686, rs11573579, rs147627670, rs45573433, rs561781541, rs779438541, rs11573587, rs11573590
View all (13 more)
RCV005601844
RCV005055204
RCV005055058
RCV005601980
RCV005235163
RCV005235162
RCV005235161
RCV005235160
RCV005235159
RCV005235165
RCV005235166
RCV005235164
RCV004786956
RCV005235330
RCV005235328
RCV005235332
RCV005235331
RCV005235329
RCV005235333
RCV004787836
RCV005235374
RCV005860118
RCV005438367
RCV004788123
RCV005601617
RCV004773206
RCV005055153
RCV005055163
Breast carcinoma Uncertain significance rs757205202, rs145536878 RCV003233038
RCV003233042
Cholangiocarcinoma Benign rs3795719 RCV005916989
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Arthritis Rheumatoid Associate 37019382
Basal Cell Nevus Syndrome Associate 23951062, 28915250, 33441926, 34170463
Carcinoma Basal Cell Associate 11982765, 32319607, 33441926
Cartilage hair hypoplasia Associate 24009312
Colorectal Neoplasms Associate 34573430
Endometriosis Stimulate 26059197
Neoplasms Associate 11982765, 21666490, 23951062, 31588709, 34308104
Neoplasms Basal Cell Associate 26059197
Odontogenic Tumors Associate 23951062
Ovarian Neoplasms Stimulate 26059197