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PTCH2 Gene

protein-coding   GIFtS: 62

GC01M045060
patched homolog 2 (Drosophila)
(Previous name: patched (Drosophila) homolog 2 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
OTTHUMP00000010158 2
PTC2 3
Descriptions
patched (Drosophila) homolog 2 1
patched 2 2
patched homolog 2 (Drosophila) 2
External Ids
HGNC: 95861
Entrez Gene: 86432
UniProtKB: Q9Y6C53
Ensembl: ENSG000001174257
Search outside databases for aliases for PTCH2 gene

Previous GC identifers: GC01M045015 GC01M044288 GC01M044716 GC01M044702 GC01M044703 GC01M044957

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, Q9Y6C5
Function: May have a role in epidermal development. May act as a receptor for Sonic hedgehog (SHH)

(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: 1p34.1

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 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  
(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 Q6UX14
Alternative 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 Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (PTCH2)
    Human Recombinant Proteins from Abnova (PTCH2)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    2 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005887 integral to plasma membrane TAS9811851
    GO:0016020 membrane IEA--
    About this table

    Antibodies for PTCH2: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse Antibodies at Sigma-Aldrich
    R&D Systems Antibodies for PTCH2 (Patched 2)
    Cell Signaling Technology (CST) Antibodies for PTCH2 
    Antibodies from Abcam (PTCH2), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (PTCH2)
    Novus Biologicals Antibodies for PTCH2

    Assays for PTCH2: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    3 InterPro domains/families:
     IPR003392 Patched
     IPR000731 SSD_5TM
     IPR004766 TM_rcpt_patched


       GeneDecks  PTCH2 for the domains selected above  
    About GeneDecksing

    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 family
    Similarity: Contains 1 SSD (sterol-sensing) domain

    (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

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (PTCH2)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (PTCH2)
                  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  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  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, 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

    9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Ptch2):

    digestive/alimentaryhematopoietic systemimmune systemnervous system
    normalreproductive systemskin/coat/nailstumorigenesis

    1 Gene Ontology (GO) molecular function term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008158 hedgehog receptor activity IEA--
    About this table

    (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

    1 Invitrogen iPath™ Online BioAtlas - Pathway for PTCH2 (Maps provided by GeneGo):
     Hedgehog and PTH signaling pathways participation in bone and cartilage development

       GeneDecks  PTCH2 for the pathways selected above  
    About GeneDecksing

    5 Sigma-Aldrich "Your Favorite Gene" Pathways for  PTCH2  (Your Favorite Gene powered by Ingenuity) 
     Sonic Hedgehog Signaling
     Axonal Guidance Signaling
     Corticotropin Releasing Hormone Signaling
     Basal Cell Carcinoma Signaling
     Molecular Mechanisms of Cancer

       GeneDecks  PTCH2 for the pathways selected above  
    About GeneDecksing

    3 Kegg Pathways  (Kegg details for PTCH2):
     hsa04340 Hedgehog signaling pathway
     hsa05200 Pathways in cancer
     hsa05217 Basal cell carcinoma

       GeneDecks  PTCH2 for the pathways selected above  
    About GeneDecksing
     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 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SHHENSP000002972613STRING (score=.995)
    SMOENSP000002493733STRING (score=.988)
    DHHENSP000002669913STRING (score=.987)
    IHHENSP000002957313STRING (score=.987)
    SUFUENSP000003589183STRING (score=.891)
    About this table

    3 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006461 protein complex assembly TAS9811851
    GO:0007283 spermatogenesis TAS9811851
    GO:0008544 epidermis development TAS9811851
    About this table
    (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 Small Molecules at Sigma-Aldrich

    Browse Tocris compounds 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

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (PTCH2)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (PTCH2)
                  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  
    (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


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    221292_at2, 3 U133-A 2 1.00 0.95 -- -- NM_003738 0.60 1.00 0.82 1

    221292_at2 U133Plus2 2 1.00 0.95 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: ACCGTGGCCA

    SOURCE GeneReport for Unigene cluster: Hs.591497
    (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 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    PTCH21   -- patched homolog 2 (Drosophila) 90.16(n)
    91.99(a)
    482519  XM_539636.2  XP_539636.2 
    cow
    (Bos taurus)
    PTCH21   -- patched homolog 2 (Drosophila) 91.27(n)
    93.85(a)
    507948  XM_584648.3  XP_584648.3 
    mouse
    (Mus musculus)
    Ptch21, 5 4 (56.50 cM)5
    patched homolog 21, 5 88.23(n)1
    91.02(a)1
    192071  NM_008958.21  NP_032984.11 
     AB0008475  AB0108335  (see all 13)
    zebrafish
    (Danio rerio)
    ptc12   -- patched1 75.35(n) 30181  NM_130988.1 
    fruit fly
    (Drosophila melanogaster)
    ptc3 44D5--E1 eye-antennal disc metamorphosis patched
    receptor
    37(a)   --
    About this table        Species with no ortholog for PTCH2

    ENSEMBL Gene Tree for PTCH2
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for PTCH2 gene
    PTCH12  NPC12  NPC1L12  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/179 NCBI SNPs in PTCH2 are shown (see all 179 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 70)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 1 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs115735981,2
    C,F,H45060923(-) GTGATA/GCAGAT 1 I/M mis1 ese39Minor allele frequency- G:0.21NS EU EA WA 1014
    rs115735901,2
    C,F,H45064760(-) CTGGAC/TGGCTG 1 T/M mis1 ese319Minor allele frequency- T:0.08NS NA EU EA WA 1334
    rs115735781,2
    F,H45067920(-) GTGAGG/CAGCAG 1 Q/E mis1 ese35Minor allele frequency- C:0.00NS EU EA WA 592
    rs115735371,2
    F,H45081413(-) CCACGG/AAGCGG 1 -- ng315Minor allele frequency- A:0.01NS EU EA WA 556
    rs115735861,2
    C,F45066296(-) AAGCCC/TACCTG 1 H/Y mis1 ese32Minor allele frequency- T:0.01NS NA 256
    rs115735991,2
    F,H45060346(-) GTCTGG/TTGACT 1 -- ng51 ese35Minor allele frequency- T:0.01NS EU EA WA 586
    --
    rs124088181,2
    A,C45082821(+) ACACCC/TAGCTA 1 -- ng310--------
    rs121194101,2
    F,H45082624(+) ATAATC/TTTCAA 1 -- ng314Minor allele frequency- T:0.01EU EA WA 392
    --
    rs115735911,2
    H45064568(-) TCCCCG/ATGGTG 1 M/V mis1 ese35Minor allele frequency- A:0.00NS EU EA WA 550
    rs75253081,2
    A,C,F,H45066105(+) ACCTTA/GGCATG 1 A/A syn113Minor allele frequency- G:0.47NS EU EA WA NA 1442
    About this table

    HapMap Linkage Disequilibrium images for PTCH2 (up to first 250kb)

    (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)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (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 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 8643 HGNC: 9586 AceView: PTCH2 Ensembl:ENSG00000117425 euGenes: HUgn8643
    ECgene: PTCH2 H-InvDB: PTCH2
    (According to HUGE)
    About This Section

      --
    (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

    NameDescription
    ATLAS Chromosomes in Cancer entry for PTCH2 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/ptch2/
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (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:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Predesigned and custom siRNAs for PTCH2 Browse antibodies at Sigma-Aldrich
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for PTCH2 Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
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     Recombinant & Natural Proteins  

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     Antibodies & Assays for PTCH2 

     Recombinant Proteins
    (PTCH2)
     Antibodies (PTCH2)
     Search OriGene for PTCH2
     Search Tocris compounds for PTCH2




     Drugs for PTCH2
     Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
     Antibodies for PTCH2

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