PTCH2

Summary

PTCH2 (patched 2, HGNC:9586) is a protein-coding gene on chromosome 1p34.1, encoding Protein patched homolog 2 (Q9Y6C5). Plays a role in the control of cellular growth.

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 cell carcinoma, medulloblastoma, and susceptibility to congenital macrostomia. Alternatively spliced transcript variants have been described.

Source: NCBI Gene 8643 — RefSeq curated summary.

At a glance

• Gene–disease (curated): nevoid basal cell carcinoma syndrome (Moderate, GenCC) — +2 more curated relationships
• GWAS associations: 1
• Clinical variants (ClinVar): 1,150 total — 3 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 49
• MANE Select transcript: NM_003738

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9586
Approved symbol	PTCH2
Name	patched 2
Location	1p34.1
Locus type	gene with protein product
Status	Approved
Aliases	SLC65B2
Ensembl gene	ENSG00000117425
Ensembl biotype	protein_coding
OMIM	603673
Entrez	8643

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000372192, ENST00000438067, ENST00000447098, ENST00000881531

RefSeq mRNA: 2 — MANE Select: NM_003738 NM_001166292, NM_003738

CCDS: CCDS516, CCDS53312

Canonical transcript exons

ENST00000372192 — 22 exons

Exon	Start	End
ENSE00000957444	44841847	44842039
ENSE00000957446	44823243	44823385
ENSE00000957447	44823069	44823168
ENSE00001045271	44826902	44827082
ENSE00001045273	44831975	44832044
ENSE00001045274	44829909	44830030
ENSE00001045276	44832152	44832341
ENSE00001045277	44830848	44831043
ENSE00001045279	44831706	44831797
ENSE00001045282	44829157	44829312
ENSE00001045283	44828506	44828631
ENSE00001045284	44827167	44827309
ENSE00001045285	44828982	44829074
ENSE00001045286	44829402	44829533
ENSE00001045287	44827402	44827714
ENSE00001045289	44827843	44828191
ENSE00001045291	44828296	44828414
ENSE00001045294	44826250	44826387
ENSE00001045295	44829614	44829761
ENSE00001141679	44826488	44826768
ENSE00001457109	44821938	44822669
ENSE00001860452	44842861	44843253

Expression profiles

Bgee: expression breadth ubiquitous, 162 present calls, max score 87.35.

FANTOM5 (CAGE): breadth broad, TPM avg 2.5323 / max 125.4016, expressed in 494 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
12101	2.4286	482
12100	0.1038	51

Top tissues by expression

279 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.35	gold quality
left testis	UBERON:0004533	85.85	gold quality
right ovary	UBERON:0002118	85.58	gold quality
right testis	UBERON:0004534	85.18	gold quality
left ovary	UBERON:0002119	84.97	gold quality
tibial nerve	UBERON:0001323	84.13	gold quality
testis	UBERON:0000473	82.53	gold quality
right hemisphere of cerebellum	UBERON:0014890	82.02	gold quality
cerebellar hemisphere	UBERON:0002245	81.13	gold quality
cerebellar cortex	UBERON:0002129	80.92	gold quality
sural nerve	UBERON:0015488	79.49	gold quality
adenohypophysis	UBERON:0002196	78.68	gold quality
cerebellum	UBERON:0002037	78.57	gold quality
right frontal lobe	UBERON:0002810	78.37	gold quality
pituitary gland	UBERON:0000007	77.45	gold quality
ovary	UBERON:0000992	77.33	gold quality
body of uterus	UBERON:0009853	76.66	gold quality
cortical plate	UBERON:0005343	76.45	gold quality
right uterine tube	UBERON:0001302	75.65	gold quality
anterior cingulate cortex	UBERON:0009835	75.04	gold quality
cingulate cortex	UBERON:0003027	74.94	gold quality
nucleus accumbens	UBERON:0001882	73.66	gold quality
right adrenal gland	UBERON:0001233	73.41	gold quality
right adrenal gland cortex	UBERON:0035827	73.33	gold quality
Brodmann (1909) area 9	UBERON:0013540	73.24	gold quality
mucosa of stomach	UBERON:0001199	73.10	gold quality
right coronary artery	UBERON:0001625	72.92	gold quality
left uterine tube	UBERON:0001303	72.56	gold quality
minor salivary gland	UBERON:0001830	72.33	gold quality
hypothalamus	UBERON:0001898	72.30	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-7052	yes	228.38
E-ANND-3	yes	3.63

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): GLI1, GLI3

miRNA regulators (miRDB)

3 targeting PTCH2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-4270	99.02	66.26	1987
HSA-MIR-6746-5P	92.37	63.66	103

Literature-anchored findings (GeneRIF, showing 13)

• PTCH2 isoforms have distinct roles in Hedgehog signalling. (PMID:14613484)
• PTCH2 (2157G–>A), a novel missense mutation, underlies NBCCS, resulting in the loss of PTCH2 inhibitory function in the Shh signalling pathway. (PMID:18285427)
• A susceptibility locus on 1p32-1p34 for congenital macrostomia in a Chinese family and identification of a novel PTCH2 mutation are reported. (PMID:19208383)
• Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome. (PMID:23479190)
• Our data extend these observations and demonstrate a significant increase in Ptch2 expression in the obstructive UPJ segments in a subset of patients with congenital UPJO. (PMID:29109083)
• Combined heterozygous germline mutations in PTCH1 and PTCH2 were identified in a patient with embryonal rhabdomyosarcoma. (PMID:29230040)
• The importance of the ATRX/DAXX pathway was confirmed by the first-ever pancreatic neuroendocrine neoplasms (pNEN)-specific protein-damaging hotspot mutation in DAXX. In this study, both novel genes, including the pro-apoptotic CYFIP2 gene and hedgehog signaling PTCH2, and novel pathways, such as the MAPK-ERK pathway, were implicated in pNEN. (PMID:30021865)
• Pds5b/Ptch2 axis regulates cell proliferation and invasion in pancreatic tumor cells. (PMID:31233836)
• [Exploring parent-of-origin effects for non-syndromic cleft lip with or without cleft palate on PTCH1, PTCH2, SHH, SMO genes in Chinese case-parent trios]. (PMID:33047712)
• PTCH2 is not a strong candidate gene for gorlin syndrome predisposition. (PMID:34170463)
• Inherited rare and common variants in PTCH1 and PTCH2 contributing to the predisposition to reproductive cancers. (PMID:34990798)
• Reduced PTCH2 expression is associated with glioma development through its regulation of the PTEN/AKT signaling pathway. (PMID:36027694)
• Identification of rare variants in PTCH2 associated with non-syndromic orofacial clefts. (PMID:38360123)

Cross-species orthologs

9 orthologs

Organism	Symbol	Gene ID
danio_rerio	ptch2	ENSDARG00000055026
mus_musculus	Ptch2	ENSMUSG00000028681
rattus_norvegicus	Ptch2	ENSRNOG00000057616
drosophila_melanogaster	ptc	FBGN0003892
drosophila_melanogaster	disp	FBGN0029088
drosophila_melanogaster	Ptr	FBGN0262867
caenorhabditis_elegans		WBGENE00004208
caenorhabditis_elegans		WBGENE00004211
caenorhabditis_elegans	ptr-17	WBGENE00004231

Paralogs (10): NPC1L1 (ENSG00000015520), SCAP (ENSG00000114650), DISP2 (ENSG00000140323), NPC1 (ENSG00000141458), DISP1 (ENSG00000154309), PTCHD1 (ENSG00000165186), PTCHD3 (ENSG00000182077), PTCH1 (ENSG00000185920), DISP3 (ENSG00000204624), PTCHD4 (ENSG00000244694)

Protein

Protein identifiers

Protein patched homolog 2 — Q9Y6C5 (reviewed: Q9Y6C5)

All UniProt accessions (2): Q9Y6C5, H0Y7J2

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in the control of cellular growth. May have a role in epidermal development. May act as a receptor for Sonic hedgehog (SHH).

Subcellular location. Membrane.

Disease relevance. Medulloblastoma (MDB) [MIM:155255] Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children. Disease susceptibility may be associated with variants affecting the gene represented in this entry. 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. Disease susceptibility may be associated with variants affecting the gene represented in this entry.

Similarity. Belongs to the patched family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9Y6C5-1	1	yes
Q9Y6C5-2	2

RefSeq proteins (2): NP_001159764, NP_003729* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000731	SSD	Domain
IPR004766	TM_rcpt_patched	Family
IPR053958	HMGCR/SNAP/NPC1-like_SSD	Domain

Pfam: PF12349

UniProt features (50 total): topological domain 13, transmembrane region 12, sequence conflict 10, sequence variant 8, glycosylation site 2, chain 1, domain 1, region of interest 1, compositionally biased region 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y6C5-F1	79.25	0.40

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (2): 370, 812

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-373080	Class B/2 (Secretin family receptors)
R-HSA-5635851	GLI proteins bind promoters of Hh responsive genes to promote transcription

MSigDB gene sets: 243 (showing top): GOBP_POSITIVE_REGULATION_OF_EPITHELIAL_CELL_DIFFERENTIATION, GOBP_EPITHELIUM_DEVELOPMENT, KEGG_HEDGEHOG_SIGNALING_PATHWAY, GOBP_REGULATION_OF_EPIDERMIS_DEVELOPMENT, GOBP_GROWTH, AP4_Q6, CAGCTG_AP4_Q5, SP1_Q2_01, GOBP_REGULATION_OF_EPITHELIAL_CELL_DIFFERENTIATION, GOBP_EPIDERMAL_CELL_DIFFERENTIATION, KEGG_PATHWAYS_IN_CANCER, GOBP_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION, chr1p34, ZIC1_01, GOBP_NEGATIVE_REGULATION_OF_SMOOTHENED_SIGNALING_PATHWAY

GO Biological Process (8): regulation of cell growth (GO:0001558), cell fate determination (GO:0001709), epidermal cell fate specification (GO:0009957), hair cycle (GO:0042633), skin development (GO:0043588), positive regulation of epidermal cell differentiation (GO:0045606), negative regulation of smoothened signaling pathway (GO:0045879), epidermis development (GO:0008544)

GO Molecular Function (3): smoothened binding (GO:0005119), hedgehog receptor activity (GO:0008158), hedgehog family protein binding (GO:0097108)

GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
GPCR ligand binding	1
Hedgehog ‘on’ state	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
epidermal cell differentiation	2
cell growth	1
regulation of growth	1
regulation of cellular component organization	1
cell fate commitment	1
cellular developmental process	1
cell fate specification	1
molting cycle	1
animal organ development	1
positive regulation of epithelial cell differentiation	1
regulation of epidermal cell differentiation	1
positive regulation of epidermis development	1
smoothened signaling pathway	1
regulation of smoothened signaling pathway	1
negative regulation of signal transduction	1
tissue development	1
G protein-coupled receptor binding	1
transmembrane signaling receptor activity	1
hedgehog family protein binding	1
protein binding	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1180 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PTCH2	SHH	Q15465	996
PTCH2	IHH	Q14623	995
PTCH2	DHH	O43323	995
PTCH2	SUFU	Q9UMX1	918
PTCH2	NCOA4	Q13772	889
PTCH2	SMO	Q99835	846
PTCH2	GLI1	P08151	808
PTCH2	GLI2	P10070	796
PTCH2	RET	P07949	767
PTCH2	GLI3	P10071	752
PTCH2	PRKAR1A	P10644	752
PTCH2	BOC	Q9BWV1	729
PTCH2	HHIP	Q96QV1	691
PTCH2	CDON	Q4KMG0	668
PTCH2	STK36	Q9NRP7	644

IntAct

3 interactions, top by confidence:

A	B	Type	Score
ARRB1		psi-mi:“MI:0914”(association)	0.350
PTCH2	ADCY3	psi-mi:“MI:0914”(association)	0.350

BioGRID (16): PTCH2 (Affinity Capture-RNA), PTCH2 (Affinity Capture-MS), PTCH2 (Affinity Capture-RNA), SMO (Affinity Capture-Western), SQLE (Affinity Capture-MS), DHRS3 (Affinity Capture-MS), TAP2 (Affinity Capture-MS), PTPRS (Affinity Capture-MS), C1orf43 (Affinity Capture-MS), WDR44 (Affinity Capture-MS), PLEKHH3 (Affinity Capture-MS), STAM2 (Affinity Capture-MS), BTN2A2 (Affinity Capture-MS), DHRS7 (Affinity Capture-MS), ADCY3 (Affinity Capture-MS)

ESM2 similar proteins: A0A3Q2HW92, A6NDV4, A6NFX1, A6QLK4, B1AWJ5, F1NCD6, F1NJ67, F1PZV2, O35308, O35595, O70461, O95907, Q08DX7, Q0IHM1, Q0P5C0, Q0P5M9, Q13286, Q14728, Q29611, Q2YDU8, Q3T9M1, Q3U481, Q501I9, Q5R8G5, Q5R9A1, Q5U419, Q60HH0, Q61124, Q66H95, Q6NUT3, Q6UXD7, Q6ZMD2, Q7RTT9, Q8BFQ6, Q8CE47, Q8NA29, Q8R0G7, Q8R139, Q8TB61, Q8VCW4

Diamond homologs: A0A125YWU9, O15118, O35604, Q12200, Q9VRC9, Q9Y6C5, A3KFU9, B9U3F2, Q9P2K9, H2L0G5, Q09614, Q13635, Q61115, Q90693, Q98864, O35595, O42334, O42335, P18502, Q0EEE2, Q09311, Q9XWL9, P34389, Q19127, P97260, Q3KNS1

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
SHH	“down-regulates activity”	PTCH2	binding
IHH	“down-regulates activity”	PTCH2	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

1150 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	1
Uncertain significance	659
Likely benign	388
Benign	45

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
2576566	NM_003738.5(PTCH2):c.1302_1305delinsACCA (p.Leu435Pro)	Pathogenic
59967	GRCh38/hg38 1p34.1(chr1:44838131-44841480)x1	Pathogenic
6146	NM_003738.5(PTCH2):c.3357+5C>T	Pathogenic
2573189	NM_003738.5(PTCH2):c.2315dup (p.Pro773fs)	Likely pathogenic

SpliceAI

3440 predictions. Top by Δscore:

Variant	Effect	Δscore
1:44823167:ACC:A	acceptor_loss	1.0000
1:44826484:TCAC:T	donor_loss	1.0000
1:44826485:CACT:C	donor_loss	1.0000
1:44826486:A:AC	donor_gain	1.0000
1:44826486:ACTAT:A	donor_loss	1.0000
1:44826487:C:CC	donor_gain	1.0000
1:44826764:CGGGA:C	acceptor_gain	1.0000
1:44826765:GGGA:G	acceptor_gain	1.0000
1:44826766:GGA:G	acceptor_gain	1.0000
1:44826769:C:CC	acceptor_gain	1.0000
1:44826900:A:AC	donor_gain	1.0000
1:44826901:C:CT	donor_gain	1.0000
1:44826901:CT:C	donor_gain	1.0000
1:44826901:CTG:C	donor_gain	1.0000
1:44827079:TCAG:T	acceptor_gain	1.0000
1:44827080:CAG:C	acceptor_gain	1.0000
1:44827080:CAGC:C	acceptor_gain	1.0000
1:44827081:AG:A	acceptor_gain	1.0000
1:44827082:GC:G	acceptor_loss	1.0000
1:44827083:C:CC	acceptor_gain	1.0000
1:44827083:CTGCA:C	acceptor_loss	1.0000
1:44827084:T:A	acceptor_loss	1.0000
1:44827163:CAA:C	donor_loss	1.0000
1:44827164:AAC:A	donor_loss	1.0000
1:44827165:A:T	donor_loss	1.0000
1:44827166:CCT:C	donor_loss	1.0000
1:44827166:CCTGG:C	donor_gain	1.0000
1:44827177:T:TA	donor_gain	1.0000
1:44827182:AGGCT:A	donor_gain	1.0000
1:44827186:T:TA	donor_gain	1.0000

AlphaMissense

7723 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:44831022:C:A	W213C	1.000
1:44831022:C:G	W213C	1.000
1:44831024:A:G	W213R	1.000
1:44831024:A:T	W213R	1.000
1:44832020:G:C	C160W	0.999
1:44832021:C:T	C160Y	0.999
1:44832038:C:A	W154C	0.999
1:44832038:C:G	W154C	0.999
1:44832040:A:G	W154R	0.999
1:44832040:A:T	W154R	0.999
1:44829634:A:G	W355R	0.998
1:44829634:A:T	W355R	0.998
1:44829670:A:G	W343R	0.998
1:44829670:A:T	W343R	0.998
1:44829714:A:G	L328P	0.998
1:44829743:G:C	S318R	0.998
1:44829743:G:T	S318R	0.998
1:44829745:T:G	S318R	0.998
1:44831744:C:A	W193C	0.998
1:44831744:C:G	W193C	0.998
1:44831775:C:T	C183Y	0.998
1:44831776:A:G	C183R	0.998
1:44832021:C:G	C160S	0.998
1:44832022:A:G	C160R	0.998
1:44832022:A:T	C160S	0.998
1:44829632:C:A	W355C	0.997
1:44829632:C:G	W355C	0.997
1:44829668:C:A	W343C	0.997
1:44829668:C:G	W343C	0.997
1:44830906:C:G	C252S	0.997

dbSNP variants (sampled 300 via entrez): RS1000369726 (1:44833764 T>C), RS1000411392 (1:44839964 C>G), RS1000422114 (1:44833533 C>G), RS1000519716 (1:44835507 C>T), RS1000520431 (1:44828466 C>T), RS1000703776 (1:44821285 AAC>A), RS1000741506 (1:44835213 T>C), RS1000874098 (1:44839745 G>A,C), RS1001100848 (1:44840038 T>A), RS1001128920 (1:44841621 A>G), RS1001201102 (1:44820985 A>G), RS1001225010 (1:44840363 G>T), RS1001281146 (1:44819616 G>A), RS1001608519 (1:44822957 C>G,T), RS1001695387 (1:44834031 A>G)

Disease associations

OMIM: gene MIM:603673 | disease phenotypes: MIM:109400, MIM:155255, MIM:605462, MIM:157900, MIM:114480

GenCC curated gene-disease

Disease	Classification	Inheritance
nevoid basal cell carcinoma syndrome	Moderate	Autosomal dominant
commissural facial cleft	Supportive	Autosomal dominant
basal cell nevus syndrome 1	Limited	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
nevoid basal cell carcinoma syndrome	Limited	AD

Mondo (11): nevoid basal cell carcinoma syndrome (MONDO:0007187), medulloblastoma (MONDO:0007959), basal cell carcinoma, susceptibility to, 1 (MONDO:0011556), basal cell nevus syndrome 1 (MONDO:0958174), breast carcinoma (MONDO:0004989), Mobius syndrome (MONDO:0008006), diffuse midline glioma, H3 K27-altered (MONDO:1060171), hereditary breast carcinoma (MONDO:0016419), duplication of the pituitary gland (MONDO:0017808), hereditary neoplastic syndrome (MONDO:0015356), commissural facial cleft (MONDO:0013300)

Orphanet (6): Gorlin syndrome (Orphanet:377), Medulloblastoma (Orphanet:616), Moebius syndrome (Orphanet:570), Hereditary breast cancer (Orphanet:227535), Duplication of the pituitary gland (Orphanet:314621), Inherited cancer-predisposing syndrome (Orphanet:140162)

HPO phenotypes

49 total (30 of 49 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000028	Cryptorchidism
HP:0000044	Hypogonadotropic hypogonadism
HP:0000202	Orofacial cleft
HP:0000238	Hydrocephalus
HP:0000248	Brachycephaly
HP:0000256	Macrocephaly
HP:0000280	Coarse facial features
HP:0000286	Epicanthus
HP:0000303	Mandibular prognathia
HP:0000316	Hypertelorism
HP:0000431	Wide nasal bridge
HP:0000464	Abnormality of the neck
HP:0000486	Strabismus
HP:0000501	Glaucoma
HP:0000506	Telecanthus
HP:0000518	Cataract
HP:0000612	Iris coloboma
HP:0000670	Carious teeth
HP:0000772	Abnormal rib morphology
HP:0000892	Bifid ribs
HP:0000902	Rib fusion
HP:0000907	Anterior rib cupping
HP:0000995	Melanocytic nevus
HP:0001156	Brachydactyly
HP:0001166	Arachnodactyly
HP:0001249	Intellectual disability
HP:0001442	Typified by somatic mosaicism
HP:0002007	Frontal bossing

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST007998_6	Intraocular pressure	2.000000e-12

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004695	intraocular pressure measurement

MeSH disease descriptors (6)

Descriptor	Name	Tree numbers
D001478	Basal Cell Nevus Syndrome	C04.182.089.530.690.150; C04.557.470.200.165.150; C04.557.470.565.165.150; C04.700.175; C05.116.099.105; C05.500.470.690.150; C07.320.450.670.130; C16.131.077.130; C16.320.700.175
D008265	Macrostomia	C07.465.525.480; C07.650.525.480; C16.131.850.525.480
D008527	Medulloblastoma	C04.557.465.625.600.380.515; C04.557.465.625.600.590.500; C04.557.470.670.380.515; C04.557.470.670.590.500; C04.557.580.625.600.380.515; C04.557.580.625.600.590.500
D020331	Mobius Syndrome	C07.465.299.825; C10.292.319.825; C10.292.562.700.375.750; C11.590.436.400.750; C16.131.077.578; C16.614.595
D009386	Neoplastic Syndromes, Hereditary	C04.700; C16.320.700
C562840	Breast Cancer, Familial (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, increases methylation	2
aristolochic acid I	increases expression	1
propionaldehyde	decreases expression	1
bisphenol A	increases methylation	1
sodium arsenite	increases expression	1
potassium chromate(VI)	increases expression	1
CGP 52608	affects binding, increases reaction	1
abrine	increases expression	1
HhAntag691	decreases expression	1
bisphenol S	increases methylation	1
jinfukang	affects cotreatment, decreases expression	1
Air Pollutants	increases expression	1
Ethanol	affects cotreatment, decreases expression	1
Cadmium	increases abundance, increases expression, affects reaction	1
Cisplatin	affects cotreatment, decreases expression	1
Folic Acid	affects cotreatment, decreases expression	1
N-Nitrosopyrrolidine	decreases expression	1
Silicon Dioxide	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Aflatoxin B1	increases methylation	1
Cadmium Chloride	increases abundance, increases expression, affects reaction	1

Cellosaurus cell lines

3 cell lines: 2 cancer cell line, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B8NA	Abcam HCT 116 PTCH2 KO	Cancer cell line	Male
CVCL_B9QK	Abcam A-549 PTCH2 KO	Cancer cell line	Male
CVCL_D9PZ	Ubigene HEK293 PTCH2 KO	Transformed cell line	Female

Clinical trials (associated diseases)

165 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT02875314	PHASE4	ACTIVE_NOT_RECRUITING	HeadStart4: Newly Diagnosed Children (<10 y/o) With Medulloblastoma and Other CNS Embryonal Tumors
NCT04081701	PHASE4	RECRUITING	68-Ga DOTATATE PET/MRI in the Diagnosis and Management of Somatostatin Receptor Positive CNS Tumors.
NCT00049959	PHASE3	TERMINATED	Two Studies to Determine if Verteporfin PDT is Effective & Safe in Treating Multiple Basal Cell Carcinoma of the Skin.
NCT03703310	PHASE3	COMPLETED	Study of Patidegib Topical Gel, 2%, for the Reduction of Disease Burden of Persistently Developing Basal Cell Carcinomas (BCCs) in Subjects With Basal Cell Nevus Syndrome (Gorlin Syndrome)
NCT04308395	PHASE3	TERMINATED	Extension Study of Patidegib Topical Gel, 2% in Subjects With Gorlin Syndrome (Basal Cell Nevus Syndrome)
NCT06050122	PHASE3	ACTIVE_NOT_RECRUITING	Efficacy and Safety of Patidegib Gel 2% for Preventing Basal Cell Carcinomas on the Face of Adults With Gorlin Syndrome
NCT00085735	PHASE3	COMPLETED	Comparison of Radiation Therapy Regimens in Combination With Chemotherapy in Treating Young Patients With Newly Diagnosed Standard-Risk Medulloblastoma
NCT00336024	PHASE3	COMPLETED	Combination Chemotherapy Followed By Peripheral Stem Cell Transplant in Treating Young Patients With Newly Diagnosed Supratentorial Primitive Neuroectodermal Tumors or High-Risk Medulloblastoma
NCT00392327	PHASE3	ACTIVE_NOT_RECRUITING	Chemotherapy and Radiation Therapy in Treating Young Patients With Newly Diagnosed, Previously Untreated, High-Risk Medulloblastoma/PNET
NCT01351870	PHASE3	COMPLETED	Hyperfractionated Versus Conventionally Fractionated Radiotherapy in Standard Risk Medulloblastoma (PNET4)
NCT07291102	PHASE3	NOT_YET_RECRUITING	Comparison of Neurocognitive Outcome in Two Standard Regimen for Treatment of Low-risk Medulloblastoma
NCT00957229	PHASE2	COMPLETED	To Determine The Efficacy and Safety of GDC-0449 in Patients With Basal Cell Nevus Syndrome (BCNS)
NCT01350115	PHASE2	COMPLETED	Efficacy, Safety and Pharmacokinetics of Oral LDE225 in Treatment of Patients With Nevoid Basal Cell Carcinoma Syndrome (NBCCS)
NCT01556009	PHASE2	COMPLETED	Trial Comparing the Effects of Intermittent Vismodegib vs. PDT in Patients With Multiple Basal Cell Carcinomas
NCT02017964	PHASE2	COMPLETED	Combination Chemotherapy in Treating Younger Patients With Newly Diagnosed, Non-metastatic Desmoplastic Medulloblastoma
NCT02303041	PHASE2	TERMINATED	Pilot Study of Sonidegib and Buparlisib in Treating Patients With Advanced or Metastatic Basal Cell Carcinoma
NCT02762084	PHASE2	COMPLETED	Trial of Patidegib Gel 2%, 4%, and Vehicle to Decrease the Number of Surgically Eligible Basal Cell Carcinomas in Gorlin Syndrome Patients
NCT03767439	PHASE2	WITHDRAWN	Nivolumab With Vismodegib in Patients With Basal Cell Nevus Syndrome
NCT04416516	PHASE2	COMPLETED	Safety and Efficacy of ASN-002 Combined With a Hedgehog Pathway Inhibitor
NCT00031590	PHASE2	TERMINATED	Low-Dose Radiation and Combination Chemotherapy Following Surgery in Children With Newly Diagnosed Medulloblastoma
NCT00180791	PHASE2	UNKNOWN	High Risk Primitive Neuroectodermal (PNET) Brain Tumors in Childhood
NCT00180947	PHASE2	UNKNOWN	Study of Vinorelbine and Cyclofosfamide Among Patients With Refractory Tumours or in Relapse
NCT00404495	PHASE2	COMPLETED	Combination of Irinotecan and Temozolomide in Children With Brain Tumors.
NCT00407433	PHASE2	COMPLETED	Clinical Studies of Gemcitabine-Oxaliplatin
NCT00520936	PHASE2	COMPLETED	A Study of Pemetrexed in Children With Recurrent Cancer
NCT00601003	PHASE2	COMPLETED	Study of Nifurtimox to Treat Refractory or Relapsed Neuroblastoma or Medulloblastoma
NCT00840047	PHASE2	ACTIVE_NOT_RECRUITING	Methionine PET/CT Studies In Patients With Cancer
NCT01217437	PHASE2	COMPLETED	Temozolomide and Irinotecan Hydrochloride With or Without Bevacizumab in Treating Young Patients With Recurrent or Refractory Medulloblastoma or CNS Primitive Neuroectodermal Tumors
NCT01326104	PHASE2	COMPLETED	Vaccine Immunotherapy for Recurrent Medulloblastoma and Primitive Neuroectodermal Tumor
NCT01356290	PHASE2	RECRUITING	Antiangiogenic Therapy for Children With Recurrent Medulloblastoma, Ependymoma, ATRT and Rare CNS Tumors
NCT01542736	PHASE2	COMPLETED	Concurrent Carboplatin and Reduced Dose Craniospinal Radiation for Medulloblastoma and Primitive Neuroectodermal Tumor (PNET)
NCT01708174	PHASE2	COMPLETED	A Phase II Study of Oral LDE225 in Patients With Hedge-Hog (Hh)-Pathway Activated Relapsed Medulloblastoma (MB)
NCT01857453	PHASE2	UNKNOWN	Interest of a Dose Decrease for Radiotherapy Associated With Chemotherapy for Treatment of Standard Risk Adult Medulloblastomas
NCT01878617	PHASE2	ACTIVE_NOT_RECRUITING	A Clinical and Molecular Risk-Directed Therapy for Newly Diagnosed Medulloblastoma
NCT02441062	PHASE2	COMPLETED	Impact of Ga-68 DOTATOC PET-CT Imaging in Management of Neuroendocrine Tumors
NCT02624388	PHASE2	TERMINATED	Study of Genistein in Pediatric Oncology Patients (UVA-Gen001)
NCT02681705	PHASE2	UNKNOWN	Radiation Therapy and Combination Chemotherapy for Medulloblastoma
NCT02689336	PHASE2	WITHDRAWN	Erlotinib in Combination With Temozolomide in Treating Relapsed/Recurrent/Refractory Pediatric Solid Tumors
NCT02724579	PHASE2	ACTIVE_NOT_RECRUITING	Reduced Craniospinal Radiation Therapy and Chemotherapy in Treating Younger Patients With Newly Diagnosed WNT-Driven Medulloblastoma
NCT03013387	PHASE2	WITHDRAWN	Dosimetry Guided PRRT With 90Y-DOTATOC