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 hav... See more...

Aliases for PTCH2 Gene

Aliases for PTCH2 Gene

  • Patched 2 2 3 5
  • Protein Patched Homolog 2 3 4
  • PTC2 3 4
  • Patched (Drosophila) Homolog 2 2
  • Patched Homolog 2 (Drosophila) 2
  • Patched Homolog 2 3
  • PTCH2 5

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 G-Beta Gamma 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 Summary for PTCH2 Gene

  • 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).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PTCH2 Gene

Genomics for PTCH2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PTCH2 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PTCH2

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

Genomic Locations for PTCH2 Gene

Latest Assembly
chr1:44,819,844-44,843,253
(GRCh38/hg38)
Size:
23,410 bases
Orientation:
Minus strand

Previous Assembly
chr1:45,285,517-45,308,925
(GRCh37/hg19 by Entrez Gene)
Size:
23,409 bases
Orientation:
Minus strand

chr1:45,285,516-45,308,735
(GRCh37/hg19 by Ensembl)
Size:
23,220 bases
Orientation:
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:
    Q9Y6C5-PTC2_HUMAN
    Recommended name:
    Protein patched homolog 2
    Protein Accession:
    Q9Y6C5
    Secondary Accessions:
    • O95341
    • O95856
    • Q53Z57
    • Q5QP87
    • Q6UX14

    Protein attributes for PTCH2 Gene

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

    Alternative splice isoforms for PTCH2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PTCH2 Gene

Post-translational modifications for PTCH2 Gene

  • Glycosylation at Asn370 and Asn812
  • 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

InterPro:
Blocks:
  • Patched family

Suggested Antigen Peptide Sequences for PTCH2 Gene

GenScript: Design optimal peptide antigens:
  • Protein patched homolog 2 (PTC2_HUMAN)
  • Patched homolog 2 (Drosophila) (Q5JR97_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y6C5

UniProtKB/Swiss-Prot:

PTC2_HUMAN :
  • Belongs to the patched family.
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:
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).
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

Phenotypes From GWAS Catalog for PTCH2 Gene

Gene Ontology (GO) - Molecular Function for PTCH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005119 smoothened binding IBA,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 Models for research

  • Taconic Biosciences Mouse Models for PTCH2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PTCH2

No data available for Enzyme Numbers (IUBMB) , 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

COMPARTMENTS
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 4
extracellular 2
cytoskeleton 2
nucleus 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PTCH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA 21873635
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

PathCards logo

SuperPathways for PTCH2 Gene

SuperPathway Contained pathways
1 Activation of cAMP-Dependent PKA
.71
.56
2 G-Beta Gamma Signaling
.44
.32
3 Signaling by GPCR
4 Wnt / Hedgehog / Notch
5 Translation Non-genomic (rapid) action of Androgen Receptor
genes like me logo Genes that share pathways with PTCH2: view

Pathways by source for PTCH2 Gene

5 Qiagen pathways for PTCH2 Gene
  • Activation of PKA through GPCR
  • CRHR Pathway
  • Hedgehog Signaling in Mammals
  • Molecular Mechanisms of Cancer
  • PKA Signaling
1 Cell Signaling Technology pathway for PTCH2 Gene

SIGNOR curated interactions for PTCH2 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for PTCH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001558 regulation of cell growth IMP 18285427
GO:0001709 cell fate determination IEA --
GO:0007224 smoothened signaling pathway IBA 21873635
GO:0008544 epidermis development IEA --
GO:0009957 epidermal cell fate specification 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 :
10 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PTCH2

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

No ASD Table

Relevant External Links for PTCH2 Gene

GeneLoc Exon Structure for
PTCH2

Expression for PTCH2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PTCH2

SOURCE GeneReport for Unigene cluster for PTCH2 Gene:

Hs.591497

Evidence on tissue expression from TISSUES for PTCH2 Gene

  • Nervous system(2.4)
  • Muscle(2.1)
  • Skin(2.1)
  • Pancreas(2)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • ovary
  • pelvis
Limb:
  • 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
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with PTCH2: view

Primer products for research

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
Chimpanzee
(Pan troglodytes)
Mammalia PTCH2 29 30
  • 99.52 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PTCH2 29 30
  • 91.43 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PTCH2 29 30
  • 91.16 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ptch2 29 16 30
  • 88.23 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PTCH2 30
  • 74 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PTCH2 30
  • 60 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PTCH2 30
  • 59 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xptch-2 29
Zebrafish
(Danio rerio)
Actinopterygii ptch2 30
  • 55 (a)
OneToOne
ptc1 29
Fruit Fly
(Drosophila melanogaster)
Insecta ptc 30 31
  • 34 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea ptc-2 30 31
  • 37 (a)
ManyToMany
ptc-1 30 31
  • 29 (a)
ManyToMany
ptc-3 30
  • 29 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NCR1 30
  • 15 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 38 (a)
OneToMany
Species where no ortholog for PTCH2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

ENSEMBL:
Gene Tree for PTCH2 (if available)
TreeFam:
Gene Tree for PTCH2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PTCH2: view image
Alliance of Genome Resources:
Additional Orthologs for PTCH2

Paralogs for PTCH2 Gene

Paralogs for PTCH2 Gene

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

  • PTC2_HUMAN
  • H0Y7J2_HUMAN
genes like me logo Genes that share paralogs with PTCH2: view

Variants for PTCH2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PTCH2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
1000469 Uncertain Significance: Gorlin syndrome 44,830,844(-) C/G
NM_003738.5(PTCH2):c.813+4G>C
INTRON
1001003 Uncertain Significance: Gorlin syndrome 44,841,866(-) C/A
NM_003738.5(PTCH2):c.246G>T (p.Leu82Phe)
MISSENSE
1002320 Uncertain Significance: Gorlin syndrome 44,842,868(-) G/T
NM_003738.5(PTCH2):c.65C>A (p.Ala22Glu)
MISSENSE
1003104 Uncertain Significance: Gorlin syndrome 44,831,021(-) TC/T
NM_003738.5(PTCH2):c.639del (p.Gln212_Trp213insTer)
NONSENSE
1003119 Uncertain Significance: Gorlin syndrome 44,828,538(-) G/T
NM_003738.5(PTCH2):c.1558C>A (p.Pro520Thr)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PTCH2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)
PTCH2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PTCH2
Leiden Open Variation Database (LOVD)
PTCH2

SNP Genotyping and Copy Number Assays for research

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

Disorders for PTCH2 Gene

MalaCards: The human disease database

(13) MalaCards diseases for PTCH2 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
basal cell nevus syndrome
  • bcns
medulloblastoma
  • mdb
macrostomia, isolated
  • lateral cleft, isolated
basal cell carcinoma 1
  • basal cell carcinoma, susceptibility to, 1
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

UniProtKB/Swiss-Prot

PTC2_HUMAN
  • 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 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. {ECO:0000269 PubMed:9931336}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Basal cell nevus syndrome (BCNS) [MIM:109400]: An autosomal dominant disease characterized by nevoid basal cell carcinomas and developmental abnormalities such as rib and craniofacial alterations, polydactyly, syndactyly, and spina bifida. In addition, the patients suffer from a multitude of tumors like basal cell carcinomas, fibromas of the ovaries and heart, cysts of the skin, jaws and mesentery, as well as medulloblastomas and meningiomas. {ECO:0000269 PubMed:18285427, ECO:0000269 PubMed:23479190}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Additional Disease Information for PTCH2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 72
  2. Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome. (PMID: 23479190) Fujii K … Miyashita T (Familial cancer 2013) 3 4 72
  3. A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family. (PMID: 18285427) Fan Z … Wang S (Journal of medical genetics 2008) 3 4 72
  4. 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
  5. 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 40

Products for PTCH2 Gene

Sources for PTCH2 Gene