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Aliases for PTCH2 Gene

Aliases for PTCH2 Gene

  • Patched 2 2 3
  • 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 commissural facial cleft and medulloblastoma. Among its related pathways are Signaling by GPCR and Pathways in cancer. GO annotations related to this gene include hedgehog receptor activity and hedgehog family protein binding. An important paralog of this gene is NPC1L1.

UniProtKB/Swiss-Prot for PTCH2 Gene

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

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

Genomics for PTCH2 Gene

Regulatory Elements for PTCH2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PTCH2 Gene

Start:
44,819,844 bp from pter
End:
44,843,063 bp from pter
Size:
23,220 bases
Orientation:
Minus strand

Genomic View for PTCH2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for PTCH2 Gene at MOPED

Post-translational modifications for PTCH2 Gene

  • Glycosylation at Asn370 and Asn812
  • Modification sites at PhosphoSitePlus

Other Protein References for PTCH2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for PTCH2 (Patched 2/PTCH2)
  • Cell Signaling Technology (CST) Antibodies for PTCH2 (PTCH2)

No data available for DME Specific Peptides for PTCH2 Gene

Domains for PTCH2 Gene

Protein Domains for PTCH2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PTCH2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y6C5

UniProtKB/Swiss-Prot:

PTC2_HUMAN :
  • Q9Y6C5
Domain:
  • Contains 1 SSD (sterol-sensing) domain.
Family:
  • Belongs to the patched family.
genes like me logo Genes that share domains with PTCH2: view

No data available for Gene Families for PTCH2 Gene

Function for PTCH2 Gene

Molecular function for PTCH2 Gene

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
UniProtKB/Swiss-Prot Function: May have a role in epidermal development. May act as a receptor for Sonic hedgehog (SHH)

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

Animal Models for PTCH2 Gene

MGI Knock Outs for PTCH2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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
Jensen Localization Image for PTCH2 Gene COMPARTMENTS Subcellular localization image for PTCH2 gene
Compartment Confidence
plasma membrane 3

Gene Ontology (GO) - Cellular Components for PTCH2 Gene

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

Pathways for PTCH2 Gene

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

Pathways by source for PTCH2 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for PTCH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction TAS 11001584
GO:0008544 epidermis development IEA --
GO:0042633 hair cycle IEA --
GO:0043588 skin development IEA --
GO:0045879 negative regulation of smoothened signaling pathway TAS 11001584
genes like me logo Genes that share ontologies with PTCH2: view

Transcripts for PTCH2 Gene

mRNA/cDNA for PTCH2 Gene

Unigene Clusters for PTCH2 Gene

Patched 2:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PTCH2

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for PTCH2
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

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

No ASD Table

Relevant External Links for PTCH2 Gene

GeneLoc Exon Structure for
PTCH2
ECgene alternative splicing isoforms for
PTCH2

Expression for PTCH2 Gene

mRNA expression in normal human tissues 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 (5.0), Testis (4.9), and Nerve - Tibial (4.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for PTCH2 Gene

SOURCE GeneReport for Unigene cluster for PTCH2 Gene Hs.591497

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

In Situ Assay Products

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 35
  • 99.52 (n)
  • 99.71 (a)
PTCH2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PTCH2 35
  • 91.43 (n)
  • 94.12 (a)
PTCH2 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PTCH2 35
  • 91.16 (n)
  • 93.6 (a)
PTCH2 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ptch2 35
  • 88.23 (n)
  • 91.02 (a)
Ptch2 16
Ptch2 36
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PTCH2 36
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves PTCH2 36
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PTCH2 36
  • 59 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xptch-2 35
zebrafish
(Danio rerio)
Actinopterygii ptc1 35
ptch2 36
  • 55 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta ptc 36
  • 34 (a)
OneToMany
ptc 37
  • 37 (a)
worm
(Caenorhabditis elegans)
Secernentea ptc-1 36
  • 29 (a)
ManyToMany
ptc-2 36
  • 37 (a)
ManyToMany
ptc-3 36
  • 29 (a)
ManyToMany
ptc-2 37
  • 32 (a)
ptc-1 37
  • 37 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NCR1 36
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 38 (a)
OneToMany
Species with no ortholog for PTCH2:
  • 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

ENSEMBL:
Gene Tree for PTCH2 (if available)
TreeFam:
Gene Tree for PTCH2 (if available)

Paralogs for PTCH2 Gene

Paralogs for PTCH2 Gene

Selected SIMAP similar genes for PTCH2 Gene using alignment to 2 proteins:

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 Sequence Context AA Info Type MAF
rs2273940 -- 44,828,484(+) TGAGC(C/T)GCCCC intron-variant
rs2295996 -- 44,827,194(+) TGGGC(A/G)TCTCC reference, synonymous-codon
rs2295997 -- 44,828,080(+) CTGGC(C/T)TCACA reference, synonymous-codon
rs2295998 -- 44,831,080(+) AGGGA(C/T)GAAAA intron-variant
rs2295999 -- 44,832,081(+) GAAGA(A/C/G)GGGGA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv461406 CNV Loss 19166990
nsv870815 CNV Loss 21882294
nsv870773 CNV Loss 21882294

Relevant External Links for PTCH2 Gene

HapMap Linkage Disequilibrium report
PTCH2
Human Gene Mutation Database (HGMD)
PTCH2

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

Disorders for PTCH2 Gene

(2) OMIM Diseases for PTCH2 Gene (603673)

UniProtKB/Swiss-Prot

PTC2_HUMAN
  • Medulloblastoma (MDB) [MIM:155255]: Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children. 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.

(3) University of Copenhagen DISEASES for PTCH2 Gene

Relevant External Links for PTCH2

Genetic Association Database (GAD)
PTCH2
Human Genome Epidemiology (HuGE) Navigator
PTCH2
genes like me logo Genes that share disorders with PTCH2: view

Publications for PTCH2 Gene

  1. Characterization of two patched receptors for the vertebrate hedgehog protein family. (PMID: 9811851) Carpenter D. … de Sauvage F.J. (Proc. Natl. Acad. Sci. U.S.A. 1998) 2 3 4
  2. Isolation and characterization of human patched 2 (PTCH2), a putative tumour suppressor gene in basal cell carcinoma and medulloblastoma on chromosome 1p32. (PMID: 9931336) Smyth I. … Wainwright B.J. (Hum. Mol. Genet. 1999) 2 3 4
  3. PTCH2, a novel human patched gene, undergoing alternative splicing and up-regulated in basal cell carcinomas. (PMID: 10029063) Zaphiropoulos P.G. … Toftgard R. (Cancer Res. 1999) 3 4
  4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4

Products for PTCH2 Gene

Sources for PTCH2 Gene

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