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Aliases & Descriptions for PTCH2
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| OTTHUMP00000010158 2 | | PTC2 3 |
| | | Descriptions |
|---|
| patched (Drosophila) homolog 2 1 | | patched 2 2 | | patched homolog 2 (Drosophila) 2 |
|
| | Search outside databases for aliases for PTCH2 genePrevious GC identifers: GC01M045015 GC01M044288 GC01M044716 GC01M044702 GC01M044703 GC01M044957 |
Summaries for PTCH2(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for PTCH2: This gene encodes a member of the patched gene family. The patched protein is the receptor for sonic hedgehog, a secreted molecule implicated in the formation of embryonic structures and in tumorigenesis. This gene is shown to be mutated in a medulloblastoma and in a basal cell carcinoma, suggesting that it plays a role in the development of some tumors. Alternative transcript variants have been described, but their biological function has not been determined. [provided by RefSeq] UniProtKB/Swiss-Prot: PTC2_HUMAN, Q9Y6C5Function: May have a role in epidermal development. May act as a receptor for Sonic hedgehog (SHH) |
Genomic Location for PTCH2
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the PTCH2 gene 
Entrez Gene cytogenetic band: 1p33-p34 Ensembl cytogenetic band: 1p34.1 HGNC cytogenetic band: 1p34.1PTCH2 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 GC01M045060:
(about GC identifiers)
Start:
|
45,058,663 bp from pter |
End:
|
45,081,203 bp from pter |
Size:
|
22,541 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000001.9 NT_032977.8
| Proteins for PTCH2
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
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 Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_003729.3
ENSEMBL proteins: ENSP00000361268 ENSP00000361266
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
2 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for PTCH2: Assays for PTCH2: | Protein
Domains/ Families for PTCH2(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - 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, Q9Y6C5Similarity: Belongs to the patched familySimilarity: Contains 1 SSD (sterol-sensing) domain | Gene Function for PTCH2
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_003738
Applied Biosystems Silencer® siRNAs for PTCH2
Sigma-Aldrich siRNA and siRNA Panels for PTCH2  Sigma-Aldrich shRNA for PTCH2  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_003738                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_003738                                  untagged cDNA clone in CMV expression vector: NM_003738 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_003738
UniProtKB/Swiss-Prot: PTC2_HUMAN, Q9Y6C5Function: 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 medulloblastoma9 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Ptch2):
1 Gene Ontology (GO) molecular function term (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0008158 | hedgehog receptor activity |
IEA | -- | About this table | Pathways & Interactions for PTCH2
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
| 5 Sigma-Aldrich "Your Favorite Gene" Pathways for PTCH2 (Your Favorite Gene powered by Ingenuity) 
Gene Network CentralTM Interacting Genes and Proteins Network for PTCH2 
5/12 Interacting proteins for PTCH2 (ENSP000003612663) via UniProtKB, MINT, and/or STRING (see all 12
)About this table
3 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for PTCH2(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
|  |
Enzo Life Sciences drugs & compounds for PTCH2 |
Browse Tocris compounds for PTCH2
|
Transcripts for PTCH2(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
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 Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_003738
Sigma-Aldrich siRNA and siRNA Panels for PTCH2  Sigma-Aldrich shRNA for PTCH2  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_003738 REFSEQ mRNAs for PTCH2 gene: NM_003738.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_003738               OriGene GFP tagged cDNA clone in CMV expression vector: NM_003738                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_003738                                  untagged cDNA clone in CMV expression vector: NM_003738  Additional cDNA sequence: AF087651.1 AF091501.1 AF119569.1 AK307168.1 AY358555.1 AY359016.1 BC143712.1 3 DOTS entries: DT.91722763 DT.101969902 DT.435500 23 AceView cDNA sequences:BX089003 NM_003738 AF119569 D61144 D60319 AF091501 AF087651 BI913889 AA781148 AY359016 AI798853 D60589 AA781365 AY358555 D60853 D80874 AV739728 AV744412 D60408 D61174 BE843857 BF376868 BF376870
highest scoring ESTs for PTCH2:AF087651 AF091501 AF119569 AY358555 AY359016 BE843857 BF376868 BF376870 BI913889 D60319 Unigene Cluster for PTCH2: Patched homolog 2 (Drosophila) Hs.591497 [show with all ESTs]Unigene Representative Sequence: AY359016
GeneLoc Exon Structure
2 Ensembl transcripts including schematic representations: ENST00000372194
ENST00000372192
|
Expression for PTCH2
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| PTCH2 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for PTCH2
1 / 2 / 3 2 probe-sets matching PTCH2 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: ACCGTGGCCA
SOURCE GeneReport for Unigene cluster: Hs.591497
|
Orthologs for PTCH2
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
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 | Paralogs for PTCH2(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for PTCH2 gene
- PTCH12 NPC12 NPC1L12
|
SNPs/Variants for PTCH2(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for PTCH2 (up to first 250kb)
|
Disorders & Mutations for PTCH2
(in which this Gene is Involved, According to
OMIM, UniProtKB,
PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
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: PTCH2 Human Genome Epidemiology Navigator: PTCH2 (2 documents)
|
Medical News for PTCH2(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for PTCH2 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/11 PubMed articles for PTCH2 gene (see all 11
):- Isolation and characterization of human patched 2 (PTCH2), a putative tumour suppressor gene inbasal cell carcinoma and medulloblastoma on chromosome 1p32. (PubMed id 9931336)2, 3, 4 Smyth I....Wainwright B.J. (1999)
- Characterization of two patched receptors for the vertebrate hedgehog protein family. (PubMed id 9811851)2, 3, 4 Carpenter D.... de Sauvage F.J. (1998)
- The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)3, 4 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)3, 4 Clark H.F....Gray A. (2003)
- PTCH2, a novel human patched gene, undergoing alternative splicing and up-regulated in basal cell carcinomas. (PubMed id 10029063)3, 4 Zaphiropoulos P.G....Toftgard R. (1999)
- Distinct roles of PTCH2 splice variants in Hedgehog signalling. (PubMed id 14613484)1, 3 Rahnama F....Zaphiropoulos P.G. (2004)
- Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk. (PubMed id 19237606)3 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)3 Fan Z....Wang S. (2009)
- [Studies on keratocystic odontogenic tumors] (PubMed id 19221557)3 Li T.J....Xu L.L. (2009)
- A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family. (PubMed id 18285427)3 Fan Z....Wang S. (2008)
|
Search for PTCH2
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing PTCH2
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing PTCH2
(According to HUGE)
About This Section
| -- |
Specialized Databases showing PTCH2(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
|
| About This Section
| --
| Services for PTCH2(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for PTCH2:

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