PTCH2 (patched 2)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8643
Gene name Gene Name - the full gene name approved by the HGNC.
Patched 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PTCH2
Synonyms (NCBI Gene) Gene synonyms aliases
PTC2, SLC65B2
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p34.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603673 9586 ENSG00000117425
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
AVMLVFPAILSLDLRRRHCQRLDVLCCFSSPCSAQVIQILPQELGDGTVPVGIAHLTATV
QAFTHCEASSQHVVTILPPQAHLVPPPSDPLGSELFSPGGSTRDLLGQEEETRQKAACKS
LPCARWNLAHFARYQFAPLLLQSHAKAIVLVLFGALLGLSLYGATLVQDGLALTDVVPRG
TKEHAFLSAQLRYFSLYEVALVTQGGFDYAHSQRALFDLHQRFSSLKAVLPPPATQAPRT
WLHYYRNWLQGIQAAFDQDWASGRITRHSYRNGSEDGALAYKLLIQTGDAQEPLDFSQLT
TRKLVDREGLIPPELFYMGLTVWVSSDPLGLAASQANFYPPPPEWLHDKYDTTGENLRIP
PAQPLEFAQFPFLLRGLQKTADFVEAIEGARAACAEAGQAGVHAYPSGSPFLFWEQYLGL
RRCFLLAVCILLVCTFLVCALLLLNPWTAGLIVLVLAMMTVELFGIMGFLGIKLSAIPVV
ILVASVGIGVEFTVHVALGFLTTQGSRNLRAAHALEHTFAPVTDGAISTLLGLLMLAGSH
FDFIVRYFFAALTVLTLLGLLHGLVLLPVLLSILGPPPEVIQMYKESPEILSPPAPQGGG
LRWGASSSLPQSFARVTTSMTVAIHPPPLPGAYIHPAPDEPPWSPAATSSGNLSSRGPGP
ATG
Sequence length 1203
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Hedgehog signaling pathway
Pathways in cancer
Basal cell carcinoma 		 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Carcinoma, Somatic basal cell carcinoma, somatic rs587776628 N/A
Show/Hide Unknown Diseases (4)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Basal Cell Neoplasm Basal cell nevus syndrome 1 N/A N/A ClinVar
Carcinoma Basal cell carcinoma, susceptibility to, 1, nevoid basal cell carcinoma syndrome N/A N/A ClinVar, GenCC
Gorlin Syndrome gorlin syndrome N/A N/A ClinVar
Medulloblastoma medulloblastoma N/A N/A ClinVar
Show/Hide Text Mining Associations (16)
Associations from Text Mining Disease 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