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Aliases for PTCH2 Gene

Aliases for PTCH2 Gene

  • Patched 2 2 3 5
  • PTC2 3 4
  • Patched (Drosophila) Homolog 2 2
  • Patched Homolog 2 (Drosophila) 2
  • Protein Patched Homolog 2 3
  • Patched Homolog 2 3

External Ids for PTCH2 Gene

Previous GeneCards Identifiers for PTCH2 Gene

  • GC01M045015
  • GC01M044288
  • GC01M044716
  • GC01M044702
  • GC01M044703
  • GC01M044957
  • GC01M045060
  • GC01M045286
  • GC01M043398

Summaries for PTCH2 Gene

Entrez Gene Summary for PTCH2 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 cell carcinoma, medulloblastoma, and susceptibility to congenital macrostomia. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009]

GeneCards Summary for PTCH2 Gene

PTCH2 (Patched 2) is a Protein Coding gene. Diseases associated with PTCH2 include Basal Cell Nevus Syndrome and Medulloblastoma. Among its related pathways are Presynaptic function of Kainate receptors and ERK Signaling. Gene Ontology (GO) annotations related to this gene include hedgehog receptor activity and hedgehog family protein binding. An important paralog of this gene is PTCH1.

UniProtKB/Swiss-Prot for PTCH2 Gene

  • May have a role in epidermal development. May act as a receptor for Sonic hedgehog (SHH).

Additional gene information for PTCH2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PTCH2 Gene

Genomics for PTCH2 Gene

GeneHancer (GH) Regulatory Elements for PTCH2 Gene

Promoters and enhancers for PTCH2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J044842 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 650.7 -0.2 -151 1.5 PKNOX1 FOXA2 SIN3A FEZF1 ZNF2 GLIS2 ATF7 SP3 NFYC ZNF623 ENSG00000226499 PTCH2 TOE1 MUTYH DMAP1 NASP ARTN IPP ERI3-IT1 UROD
GH01J044212 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 22.9 +629.6 629581 2.3 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF416 ZNF143 DMAP1 SZT2 KDM4A-AS1 HYI ARTN RPS8 MED8 HECTD3 PTCH2 KDM4A
GH01J045520 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 14.2 -678.8 -678787 3.7 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 PRDX1 CCDC163 TOE1 LRRC41 MUTYH GPBP1L1 NASP RPS8 RPL7AP16 ZSWIM5
GH01J044404 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 11 +437.5 437492 2 ARID4B SIN3A FEZF1 ZNF2 ZNF416 ZNF143 MCM3 KAT8 MIER3 ZNF610 RNF220 TOE1 LOC101929609 DMAP1 ZSWIM5 RPS8 PTCH2 MUTYH ATP6V0B MIR5584
GH01J044774 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.4 +66.8 66845 3.7 ZFP64 DMAP1 YBX1 IRF4 YY1 ZNF213 E2F8 ZNF143 MCM3 SP3 RPS8 ENSG00000225721 GC01P044811 GC01P044823 GC01P044833 GC01P044834 GC01P044835 GC01P044837 SNORD38A SNORD46
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PTCH2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PTCH2 gene promoter:
  • POU3F1
  • Zic3
  • Egr-3
  • FOXL1
  • Roaz
  • MyoD
  • Tal-1beta
  • E47
  • S8

Genomic Locations for PTCH2 Gene

Genomic Locations for PTCH2 Gene
23,220 bases
Minus strand
23,220 bases
Minus strand

Genomic View for PTCH2 Gene

Genes around PTCH2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PTCH2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PTCH2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PTCH2 Gene

Proteins for PTCH2 Gene

  • Protein details for PTCH2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein patched homolog 2
    Protein Accession:
    Secondary Accessions:
    • O95341
    • O95856
    • Q53Z57
    • Q5QP87
    • Q6UX14

    Protein attributes for PTCH2 Gene

    1203 amino acids
    Molecular mass:
    130544 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PTCH2 Gene


neXtProt entry for PTCH2 Gene

Post-translational modifications for PTCH2 Gene

  • Glycosylation at Asn812 and posLast=370370
  • Modification sites at PhosphoSitePlus

Other Protein References for PTCH2 Gene

No data available for DME Specific Peptides for PTCH2 Gene

Domains & Families for PTCH2 Gene

Gene Families for PTCH2 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for PTCH2 Gene


Suggested Antigen Peptide Sequences for PTCH2 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the patched family.
  • Belongs to the patched family.
genes like me logo Genes that share domains with PTCH2: view

Function for PTCH2 Gene

Molecular function for PTCH2 Gene

UniProtKB/Swiss-Prot Function:
May have a role in epidermal development. May act as a receptor for Sonic hedgehog (SHH).
GENATLAS Biochemistry:
Drosophila segment polarity gene patched (PTC) homolog 2,expressed at high levels in the skin and spermatocytes,binding to all hedgehog family members,forming complex with SMOH and likely with Desert hedgehog receptor,putative tumor suppressor gene in basal cell carcinoma and medulloblastoma

Gene Ontology (GO) - Molecular Function for PTCH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005119 smoothened binding IPI 9811851
GO:0008158 hedgehog receptor activity TAS 11001584
GO:0097108 hedgehog family protein binding TAS 11001584
genes like me logo Genes that share ontologies with PTCH2: view
genes like me logo Genes that share phenotypes with PTCH2: view

Human Phenotype Ontology for PTCH2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PTCH2 Gene

MGI Knock Outs for PTCH2:

Animal Model Products

  • Taconic Biosciences Mouse Models for PTCH2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for PTCH2 Gene

Localization for PTCH2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTCH2 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PTCH2 gene
Compartment Confidence
plasma membrane 3
nucleus 1

Gene Ontology (GO) - Cellular Components for PTCH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PTCH2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PTCH2 Gene

Pathways & Interactions for PTCH2 Gene

genes like me logo Genes that share pathways with PTCH2: view

Pathways by source for PTCH2 Gene

SIGNOR curated interactions for PTCH2 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for PTCH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001709 cell fate determination IEA --
GO:0007165 signal transduction IEA --
GO:0008544 epidermis development IEA --
GO:0009957 epidermal cell fate specification IEA --
GO:0042633 hair cycle IEA --
genes like me logo Genes that share ontologies with PTCH2: view

Drugs & Compounds for PTCH2 Gene

No Compound Related Data Available

Transcripts for PTCH2 Gene

mRNA/cDNA for PTCH2 Gene

(2) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(23) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PTCH2 Gene

Patched 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PTCH2 Gene

No ASD Table

Relevant External Links for PTCH2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PTCH2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PTCH2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PTCH2 Gene

This gene is overexpressed in Ovary (x5.0), Testis (x4.9), and Nerve - Tibial (x4.5).

Protein differential expression in normal tissues from HIPED for PTCH2 Gene

This gene is overexpressed in Adipocyte (62.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PTCH2 Gene

Protein tissue co-expression partners for PTCH2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PTCH2 Gene:


SOURCE GeneReport for Unigene cluster for PTCH2 Gene:


Evidence on tissue expression from TISSUES for PTCH2 Gene

  • Thyroid gland(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PTCH2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • skull
  • tooth
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • intestine
  • large intestine
  • small intestine
  • stomach
  • ovary
  • pelvis
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • blood vessel
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with PTCH2: view

No data available for mRNA Expression by UniProt/SwissProt for PTCH2 Gene

Orthologs for PTCH2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PTCH2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PTCH2 34 33
  • 99.52 (n)
(Bos Taurus)
Mammalia PTCH2 34 33
  • 91.43 (n)
(Canis familiaris)
Mammalia PTCH2 34 33
  • 91.16 (n)
(Mus musculus)
Mammalia Ptch2 16 34 33
  • 88.23 (n)
(Monodelphis domestica)
Mammalia PTCH2 34
  • 74 (a)
(Gallus gallus)
Aves PTCH2 34
  • 60 (a)
(Anolis carolinensis)
Reptilia PTCH2 34
  • 59 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xptch-2 33
(Danio rerio)
Actinopterygii ptch2 34
  • 55 (a)
ptc1 33
fruit fly
(Drosophila melanogaster)
Insecta ptc 34 35
  • 34 (a)
(Caenorhabditis elegans)
Secernentea ptc-2 34 35
  • 37 (a)
ptc-1 34 35
  • 29 (a)
ptc-3 34
  • 29 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NCR1 34
  • 15 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 38 (a)
Species where no ortholog for PTCH2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for PTCH2 Gene

Gene Tree for PTCH2 (if available)
Gene Tree for PTCH2 (if available)
Evolutionary constrained regions (ECRs) for PTCH2: view image

Paralogs for PTCH2 Gene

Paralogs for PTCH2 Gene

(1) SIMAP similar genes for PTCH2 Gene using alignment to 2 proteins:

  • H0Y7J2_HUMAN
genes like me logo Genes that share paralogs with PTCH2: view

Variants for PTCH2 Gene

Sequence variations from dbSNP and Humsavar for PTCH2 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1030456781 uncertain-significance, Gorlin syndrome 44,842,914(-) G/A/C coding_sequence_variant, missense_variant
rs1060502263 uncertain-significance, Gorlin syndrome 44,842,926(-) G/A coding_sequence_variant, stop_gained
rs111283762 uncertain-significance, Gorlin syndrome 44,832,161(-) A/T coding_sequence_variant, missense_variant
rs111471526 benign, Gorlin syndrome 44,827,254(-) C/A/G/T coding_sequence_variant, synonymous_variant
rs112892676 likely-benign, Gorlin syndrome 44,828,424(-) G/A/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PTCH2 Gene

Variant ID Type Subtype PubMed ID
nsv461406 CNV loss 19166990
nsv546145 CNV loss 21841781
nsv546146 CNV loss 21841781

Variation tolerance for PTCH2 Gene

Residual Variation Intolerance Score: 24.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.57; 65.10% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PTCH2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PTCH2 Gene

Disorders for PTCH2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for PTCH2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
basal cell nevus syndrome
  • bcns
  • mdb
macrostomia, isolated
  • lateral cleft, isolated
basal cell carcinoma, multiple
  • multiple basal cell carcinoma
basal cell carcinoma
  • basal cell cancer
- elite association - COSMIC cancer census association via MalaCards
Search PTCH2 in MalaCards View complete list of genes associated with diseases


  • Medulloblastoma (MDB) [MIM:155255]: Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children. {ECO:0000269 PubMed:9931336}. Note=The disease is caused by mutations 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. {ECO:0000269 PubMed:9931336}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PTCH2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PTCH2: view

No data available for Genatlas for PTCH2 Gene

Publications for PTCH2 Gene

  1. Isolation and characterization of human patched 2 (PTCH2), a putative tumour suppressor gene inbasal cell carcinoma and medulloblastoma on chromosome 1p32. (PMID: 9931336) Smyth I … Wainwright BJ (Human molecular genetics 1999) 2 3 4 58
  2. Characterization of two patched receptors for the vertebrate hedgehog protein family. (PMID: 9811851) Carpenter D … de Sauvage FJ (Proceedings of the National Academy of Sciences of the United States of America 1998) 2 3 4 58
  3. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A … Murray JC (PloS one 2010) 3 44 58
  4. [Studies on keratocystic odontogenic tumors]. (PMID: 19221557) Li TJ … Xu LL (Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences 2009) 3 44 58
  5. Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk. (PMID: 19237606) Michiels S … Benhamou S (Carcinogenesis 2009) 3 44 58

Products for PTCH2 Gene

Sources for PTCH2 Gene

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