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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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PTCH2
patched 2
Chromosome 1 Β· 1p34.1
NCBI Gene: 8643Ensembl: ENSG00000117425.16HGNC: HGNC:9586UniProt: Q9Y6C5
29PubMed Papers
22Diseases
0Drugs
4Pathogenic Variants
FUNCTIONAL ROLE
Receptor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
plasma membranehedgehog family protein bindingregulation of cell growthsmoothened bindingbasal cell carcinomanevoid basal cell carcinoma syndromeneurodegenerative diseasecommissural facial cleft
✦AI Summary

PTCH2 encodes a transmembrane receptor that functions as a negative regulator of the Hedgehog signaling pathway 1. As a patched homologue, PTCH2 acts as a receptor for Sonic hedgehog ligand and suppresses the pathway by inhibiting the Smoothened receptor 1. This signaling cascade ultimately controls cellular growth and proliferation through regulation of GLI transcription factors 2. PTCH2 is upregulated in basal cell carcinomas and medulloblastomas, suggesting dysregulation contributes to malignant transformation 34. Aberrant activation of Hedgehog signaling through PTCH2 mutations or alterations drives these cancers primarily through ligand-independent mechanisms 1. Pathogenic PTCH2 variants have been identified in childhood cancer survivors with central nervous system cancers 5, and rare deleterious variants of PTCH2 may predispose carriers to reproductive cancers 6. However, PTCH2 should not be considered a major Gorlin syndrome gene, as high frequencies of loss-of-function variants exist in the general population without associated phenotypes 7. Hedgehog pathway inhibitors targeting downstream SMO represent therapeutic strategies for PTCH2-associated malignancies 8.

Sources cited
1
PTCH2 is a transmembrane receptor that negatively regulates Hedgehog signaling by repressing SMO and inhibits GLI transcription factors
PMID: 34298625
2
PTCH2 is a component of the Hedgehog pathway that regulates cellular growth and is implicated in basal cell carcinoma and medulloblastoma
PMID: 29274272
3
PTCH2 is upregulated in both familial and sporadic basal cell carcinomas and undergoes alternative splicing
PMID: 10029063
4
PTCH2 mutations have been identified in medulloblastomas and basal cell carcinomas, suggesting tumor suppressor function
PMID: 9931336
5
Pathogenic PTCH2 variants are significantly associated with central nervous system cancers in pediatric cancer survivors
PMID: 34308104
6
Rare deleterious PTCH2 variants may predispose carriers to reproductive cancers while common variants show protective effects
PMID: 34990798
7
PTCH2 should not be included in Gorlin syndrome diagnostic panels due to high frequency of loss-of-function variants without phenotype in general population
PMID: 34170463
8
Hedgehog pathway inhibitors targeting SMO are used therapeutically for basal cell carcinomas with dysregulated Hedgehog signaling
PMID: 30477683
Disease Associationsβ“˜22
basal cell carcinomaOpen Targets
0.59Moderate
nevoid basal cell carcinoma syndromeOpen Targets
0.54Moderate
neurodegenerative diseaseOpen Targets
0.43Moderate
commissural facial cleftOpen Targets
0.37Weak
lateral facial cleftOpen Targets
0.37Weak
Abnormality of the skeletal systemOpen Targets
0.36Weak
Hereditary breast cancerOpen Targets
0.27Weak
hereditary breast carcinomaOpen Targets
0.27Weak
medulloblastomaOpen Targets
0.26Weak
breast carcinomaOpen Targets
0.15Weak
diffuse midline glioma, H3 K27-alteredOpen Targets
0.12Weak
duplication of the pituitary glandOpen Targets
0.11Weak
Blackfan-Diamond anemiaOpen Targets
0.09Suggestive
colobomaOpen Targets
0.07Suggestive
X-linked sideroblastic anemia 1Open Targets
0.06Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.06Suggestive
Beta-thalassemia - X-linked thrombocytopeniaOpen Targets
0.06Suggestive
beta-thalassemia-X-linked thrombocytopenia syndromeOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.06Suggestive
erythrokeratodermia variabilisOpen Targets
0.06Suggestive
Basal cell carcinomaUniProt
MedulloblastomaUniProt
Pathogenic Variants4
NM_003738.5(PTCH2):c.1302_1305delinsACCA (p.Leu435Pro)Pathogenic
Gorlin syndrome|Basal cell carcinoma, susceptibility to, 1
β˜…β˜†β˜†β˜†2024β†’ Residue 435
NM_003738.5(PTCH2):c.2315dup (p.Pro773fs)Likely pathogenic
Familial cancer of breast
β˜…β˜†β˜†β˜†2023β†’ Residue 773
GRCh38/hg38 1p34.1(chr1:44838131-44841480)x1Pathogenic
See cases
β˜…β˜†β˜†β˜†2011
NM_003738.5(PTCH2):c.3357+5C>TPathogenic
Basal cell carcinoma, somatic
β˜†β˜†β˜†β˜†1999
View on ClinVar β†—
Related Genes
GAS1Protein interaction99%SMURF1Protein interaction99%LRP2Protein interaction97%BOCProtein interaction96%NCOA4Protein interaction93%SMURF2Protein interaction92%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
19%
Liver
7%
Heart
6%
Lung
3%
Brain
2%
Gene Interaction Network
Click a node to explore
PTCH2GAS1SMURF1LRP2BOCNCOA4SMURF2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9Y6C5
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.90LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.76 [0.64–0.90]
RankingsWhere PTCH2 stands among ~20K protein-coding genes
  • #12,214of 20,598
    Most Researched29
  • #3,837of 5,498
    Most Pathogenic Variants4
  • #8,055of 17,882
    Most Constrained (LOEUF)0.90
Genes detectedPTCH2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in the Childhood Cancer Survivor Study.
PMID: 34308104
JNCI Cancer Spectr Β· 2021
1.00
2
Hedgehog/GLI Signaling Pathway: Transduction, Regulation, and Implications for Disease.
PMID: 34298625
Cancers (Basel) Β· 2021
0.90
3
The role of the Hedgehog signaling pathway in cancer: A comprehensive review.
PMID: 29274272
Bosn J Basic Med Sci Β· 2018
0.80
4
[Not Available].
PMID: 30477683
Ann Dermatol Venereol Β· 2018
0.70
5
PTCH2 is not a strong candidate gene for gorlin syndrome predisposition.
PMID: 34170463
Fam Cancer Β· 2022
0.60