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Aliases & Descriptionsfor PTCH2 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section Aliases & Descriptions patched 21 2 PTC22 3 patched (Drosophila) homolog 21 patched homolog 2 (Drosophila)1 protein patched homolog 22 patched homolog 22
Export aliases for PTCH2 gene to outside databases Previous GC identifers: GC01M045015 GC01M044288 GC01M044716 GC01M044702 GC01M044703 GC01M044957 GC01M045060 GC01M045286
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Summariesfor PTCH2 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for PTCH2 : 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. UniProtKB/Swiss-Prot: PTC2_HUMAN, Q9Y6C5 Function : May have a role in epidermal development. May act as a receptor for Sonic hedgehog (SHH)
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Genomic Viewsfor PTCH2 gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 60) ,
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences )About This Section Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the PTCH2 gene promoter: MIF-1 GATA-1 NF-kappaB1 PPAR-gamma2 PPAR-gamma1 Pbx1a Chx10 RFX1 AP-4 Lmo2 Other transcription factors Search SABiosciences Chromatin IP Primers for PTCH2 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for PTCH2
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 1p34.1 Ensembl cytogenetic band: 1p34.1 HGNC cytogenetic band: 1p34.1 PTCH2 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 1 GeneLoc Exon Structure
GeneLoc location for GC01M043398: view genomic region
(about GC identifiers )
Start:
43,398,182 bp from pter
End:
43,420,910 bp from pter
Size:
22,729 bases
Orientation:
minus strand
1 alternative location : Chr 1- 45,285,516-45,308,735
RefSeq DNA sequence: NC_000001.10 NT_032977.9
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Proteinsfor PTCH2 gene
(According to
1 UniProtKB ,
neXtProt ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological , and/or
ProSpec ,
Biochemical Assays by
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene ,
Antibodies by
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals , and/or
Epitomics )
About This Section UniProtKB/Swiss-Prot: PTC2_HUMAN, Q9Y6C5 (See
protein sequence )Recommended Name: Protein patched homolog 2 Size : 1203 amino acids; 130544 Da
Subcellular location : Membrane; Multi-pass membrane protein
Secondary accessions : O95341 O95856 Q53Z57 Q5QP87 Q6UX14Alternative splicing : 2 isoforms : Q9Y6C5-1 Q9Y6C5-2 Explore the universe of human proteins at neXtProt for PTCH2: NX_Q9Y6C5 Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_001159764.1 NP_003729.3 ENSEMBL proteins: ENSP00000413169 ENSP00000361266 ENSP00000389703 Human Recombinant Proteins 3 Gene Ontology (GO) cellular component terms (GO ID links to tree view) :
About this table
PTCH2 for ontologies About GeneDecksing Antibodies for PTCH2: Assays for PTCH2:
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Protein
Domains/ Familiesfor PTCH2 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
PTCH2 for domains About GeneDecksing 3 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry Q9Y6C5 ProtoNet protein and cluster: Q9Y6C5
1 Blocks protein family : IPB003392 Patched family UniProtKB/Swiss-Prot: PTC2_HUMAN, Q9Y6C5 Similarity : Belongs to the patched familySimilarity : Contains 1 SSD (sterol-sensing) domain
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Gene Functionfor PTCH2 gene
(According to UniProtKB ,
IUBMB ,and/or
Genatlas , Animal models from MGI Dec 24 2010,
shRNA from
OriGene ,
Sigma-Aldrich ,
RNAi from
Millipore ,
siRNAs from
Sigma-Aldrich ,
OriGene ,
Qiagen ,
Super-pooled esiRNAs from Sigma-Aldrich ,
microRNA from Sigma-Aldrich ,
Qiagen ,
SABiosciences ,
Clones from Millipore ,
Sigma-Aldrich ,
OriGene ,
GenScript ,
Sino Biological ,
Cell Lines from GenScript ,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene .)
About This Section UniProtKB/Swiss-Prot: PTC2_HUMAN, Q9Y6C5 Function : May have a role in epidermal development. May act as a receptor for Sonic hedgehog (SHH)
Genatlas biochemistry entry for PTCH2 :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 2 Gene Ontology (GO) molecular function terms (GO ID links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0004888 transmembrane receptor activity
TAS 9811851 GO:0008158 hedgehog receptor activity
IEA --
About this table
PTCH2 for ontologies About GeneDecksing Animal Models: 10 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Ptch2) :
PTCH2 for phenotypes About GeneDecksing
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Pathways & Interactionsfor PTCH2 gene
(Pathways according to
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
PCR Arrays from
SABiosciences ,
Proteins Network according to
SABiosciences ,
Sigma-Aldrich ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene) .
About This Section
PTCH2 for pathways About GeneDecksing 5/6 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for PTCH2 (see all 6 )3 Kegg Pathways (Kegg details for PTCH2) : SABiosciences Pathway-Focused PCR Array including PTCH2 : PAHS-078A Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for PTCH2 SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PTCH2 5 Interacting proteins for PTCH2 (ENSP00000361266 3 ) via UniProtKB, MINT, and/or STRING About this table 5 Gene Ontology (GO) biological process terms (GO ID links to tree view) :
About this table
PTCH2 for ontologies About GeneDecksing
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Drugs & Compoundsfor PTCH2 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
About This Section Browse Tocris compounds for PTCH2
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Transcriptsfor PTCH2 gene (GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
Millipore ,
siRNAs from
Sigma-Aldrich ,
OriGene ,
Qiagen ,
Super-pooled esiRNAs from Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
microRNA from Sigma-Aldrich ,
Qiagen ,
SABiosciences ,
Tagged/untagged cDNA clones from
OriGene ,
Sigma-Aldrich ,
GenScript ,
Primers from
OriGene and/or
SABiosciences )About This Section REFSEQ mRNAs for PTCH2 gene (2 alternative transcripts): NM_001166292.1 NM_003738.4
Additional cDNA sequence: AF087651.1 AF091501.1 AF119569.1 AK307168.1 AY358555.1 AY359016.1 BC143712.1
5 DOTS entries : DT.91722763 DT.101969902 DT.435500 DT.302735 DT.65284363
23 AceView cDNA sequences :
BX089003 NM_003738 AF119569 AY358555 D60589 AF091501 AY359016 AA781365 AA781148 BI913889 D60319 D61144 AI798853 AF087651 D60853 AV744412 D80874 D60408 AV739728 D61174 BE843857 BF376868 BF376870
highest scoring ESTs for PTCH2 :AF087651 AF091501 AF119569 AY358555 AY359016 BE843857 BF376868 BF376870 BI913889 D60319 Unigene Cluster for PTCH2:
Patched 2 Hs.591497 [show with all ESTs ] Unigene Representative Sequence: NM_001166292 GeneLoc Exon Structure 3 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000438067 ENST00000372192 (uc010olf.1 uc010olg.1 ) ENST00000447098
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Expression for PTCH2 gene
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 228 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Primers from
OriGene and/or
SABiosciences
)
About This Section PTCH2 expression in normal and diseased human tissues 1 / 2 / 3
3 probe-sets matching PTCH2 gene
Affymetrix probe-set
Array
GeneAnnot data
GeneNote data
GeneTide data
# genes
Sensitivity
Specificity
Correlation
Length
Gb_Accession
Consensus
Uniqueness
Score
Rank
73688_at2 , 3
U95-E
1
0.50
1.00
1.00
1.00
AI798853
0.20
0.50
0.38
1
221292_at2 , 3
U133-A
1
0.82
1.00
--
--
NM_003738
0.60
1.00
0.82
1
221292_at2
U133Plus2
1
0.82
1.00
--
--
--
--
--
--
--
About this table
PTCH2 for expression About GeneDecksing Data from
Genenote  
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: ACCGTGGCCA SOURCE GeneReport for Unigene cluster: Hs.591497 SABiosciences Expression via Pathway-Focused PCR Array including PTCH2 : PAHS-078A
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Orthologsfor PTCH2 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Dec 24 2010,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
About This Section
Orthologs for PTCH2 gene from 5/7 species (see all 7 )
About this table Species with no ortholog for PTCH2 ENSEMBL Gene Tree for PTCH2 (if available)
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Paralogsfor PTCH2 gene (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section Paralogs for PTCH2 gene PTCH1 2 NPC1 2 NPC1L1 2 C6orf138 2 PTCHD3 2 PTCHD1 2
PTCH2 for paralogs About GeneDecksing
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Genomic Variantsfor PTCH2 gene (SNPs according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Resequencing Primers from Qiagen )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Chr 1 pos Sequence Recs AA Chg Type More Recs Allele freq Pop Total sample More
About this table HapMap Linkage Disequilibrium images for PTCH2 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for PTCH2: --
QIAGEN SeqTarget long-range PCR primers for resequencing PTCH2
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Disorders & Mutationsfor PTCH2 gene
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
LSDB, HGMD, GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
PTCH2 for disorders About GeneDecksing
OMIM: 603673 disorders : 155255 605462 UniProtKB/Swiss-Prot: PTC2_HUMAN, Q9Y6C5
Defects in PTCH2 are a cause of medulloblastoma (MDB) [MIM:155255]. MDB is a malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children. Although the majority of medulloblastomas occur sporadically, some manifest within familial cancer syndromes such as Turcot syndrome and basal cell nevus syndrome (Gorlin syndrome) Defects in PTCH2 are a cause of sporadic basal cell carcinoma (BCC) [MIM:605462] Human Gene Mutation Database (HGMD) : PTCH2 Human Genome Epidemiology (HuGE) Navigator: PTCH2 (3 documents) Export disorders and mutations for PTCH2 gene to outside databases
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Medical Newsfor PTCH2 gene (Possibly Related Articles in
Doctor's Guide )
About This Section --
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Publicationsfor PTCH2 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 UniProtKB/TrEMBL , and/or
7 Novoseek )
About This Section 10/13 PubMed articles for PTCH2 gene, integrated from 7 sources (see all 13 ): (articles sorted by number of sources associating them with PTCH2) Isolation and characterization of human patched 2 (PTCH2), a putative tumour suppressor gene in basal cell carcinoma and medulloblastoma on chromosome 1p32. (PubMed id 9931336) 1 , 2 , 3 Smyth I.... Wainwright B.J. (1999) Characterization of two patched receptors for the vertebrate hedgehog protein family. (PubMed id 9811851) 1 , 2 , 3 Carpenter D.... de Sauvage F.J. (1998) The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414) 1 , 2 Gregory S.G.... Bentley D.R. (2006) The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309) 1 , 2 Clark H.F.... Gray A.M. (2003) PTCH2, a novel human patched gene, undergoing alternative splicing and up-regulated in basal cell carcinomas. (PubMed id 10029063) 1 , 2 Zaphiropoulos P.G....Toftgard R. (1999) Distinct roles of PTCH2 splice variants in Hedgehog signalling. (PubMed id 14613484) 1 , 7 Rahnama F....Zaphiropoulos P.G. (2004) Maternal genes and facial clefts in offspring: a comp rehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891) 1 Jugessur A....Murray J.C. (2010) Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk. (PubMed id 19237606) 1 Michiels S....Benhamou S. (2009) A susceptibility locus on 1p32-1p34 for congenital macrostomia in a Chinese family and identification of a novel PTCH2 mutation. (PubMed id 19208383) 1 Fan Z....Wang S. (2009) [Studies on keratocystic odontogenic tumors] (PubMed id 19221557) 1 Li T.J....Xu L.L. (2009)
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External Searches for PTCH2 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing PTCH2 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
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Other Databases showing PTCH2 gene
(According to HUGE )
About This Section --
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Specialized Databases showing PTCH2 gene (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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About This Section Patent Information for PTCH2 gene: Search GeneIP for patents involving PTCH2 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor PTCH2 gene (Antibodies, recombinant proteins, and assays by Millipore , Sigma-Aldrich , R&D Systems , Qiagen , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Epitomics , ProSpec , Uscn , Clones available from Millipore , Sigma-Aldrich , OriGene , GenScript , Sino Biological , PCR Arrays from SABiosciences , Drugs and/or compounds by Sigma-Aldrich , Tocris Bioscience , and/or
Enzo Life Sciences )About This Section
Antibodies & Assays for PTCH2  
Search Tocris compounds for PTCH2
ELISAs and CLIAs for PTCH2
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