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PTCH2 Gene

protein-coding   GIFtS: 64
GCID: GC01M045286

Patched 2

(Previous names: patched (Drosophila) homolog 2, patched homolog 2 (Drosophila))
  See PTCH2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Patched 21 2
PTC22 3
Patched (Drosophila) Homolog 21
Patched Homolog 2 (Drosophila)1
Patched Homolog 22
Protein Patched Homolog 22

External Ids:    HGNC: 95861   Entrez Gene: 86432   Ensembl: ENSG000001174257   OMIM: 6036735   UniProtKB: Q9Y6C53   

Export aliases for PTCH2 gene to outside databases

Previous GC identifers: GC01M045015 GC01M044288 GC01M044716 GC01M044702 GC01M044703 GC01M044957 GC01M045060 GC01M043398


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include hedgehog family protein binding and hedgehog receptor activity. An important paralog of this gene is PTCH1.

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 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the PTCH2 gene promoter:
         Egr-3   POU3F1   MyoD   Tal-1beta   E47   Roaz   FOXL1   S8   Zic3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPTCH2 promoter sequence
   Search Chromatin IP Primers for PTCH2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat 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)
PTCH2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M045286:  view genomic region     (about GC identifiers)

Start:
45,285,516 bp from pter      End:
45,308,735 bp from pter
Size:
23,220 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PTC2_HUMAN, Q9Y6C5 (See protein sequence)
Recommended Name: Protein patched homolog 2  
Size: 1203 amino acids; 130544 Da
Secondary accessions: O95341 O95856 Q53Z57 Q5QP87 Q6UX14
Alternative splicing: 2 isoforms:  Q9Y6C5-1   Q9Y6C5-2   

Explore the universe of human proteins at neXtProt for PTCH2: NX_Q9Y6C5

Explore proteomics data for PTCH2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn370, Asn812
  • Modification sites at PhosphoSitePlus

  • See PTCH2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001159764.1  NP_003729.3  

    ENSEMBL proteins: 
     ENSP00000413169   ENSP00000361266   ENSP00000389703  
    Reactome Protein details: Q9Y6C5

    PTCH2 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for PTCH2

     
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    Search eBioscience for ELISAs for PTCH2 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR003392 Patched
     IPR000731 SSD
     IPR004766 TM_rcpt_patched

    Graphical View of Domain Structure for InterPro Entry Q9Y6C5

    ProtoNet protein and cluster: Q9Y6C5

    1 Blocks protein domain: IPB003392 Patched family

    UniProtKB/Swiss-Prot: PTC2_HUMAN, Q9Y6C5
    Similarity: Belongs to the patched family
    Similarity: Contains 1 SSD (sterol-sensing) domain


    Find genes that share domains with PTCH2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005119smoothened binding IPI9811851
    GO:0008158hedgehog receptor activity TAS11001584
    GO:0097108hedgehog family protein binding TAS11001584
         
    Find genes that share ontologies with PTCH2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for PTCH2:
     Decreased viability 

         10 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Ptch2):
     cardiovascular system  digestive/alimentary  hematopoietic system  immune system  integument 
     muscle  nervous system  normal  reproductive system  tumorigenesis 

    Find genes that share phenotypes with PTCH2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Ptch2tm1Pmc for PTCH2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PTCH2
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    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate PTCH2 (see all 10):
    hsa-miR-15a hsa-miR-497 hsa-miR-214 hsa-miR-424 hsa-miR-3613-3p hsa-miR-195 hsa-miR-16 hsa-miR-761
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PTCH2

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    GenScript: all cDNA clones in your preferred vector (see all 2): PTCH2 (NM_003738)
    Browse Sino Biological Human cDNA Clones
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PTC2_HUMAN, Q9Y6C5: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with PTCH2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PTCH2 About   (see all 11)  
    See pathways by source

    SuperPathContained pathways About
    1Hedgehog Signaling Pathway
    Hedgehog Pathway0.32
    Hedgehog Signaling Pathway0.32
    2Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    3Activation of cAMP-Dependent PKA
    Activation of PKA through GPCR0.71
    PKA Signaling0.56
    4G-Beta Gamma Signaling
    CRHR Pathway0.44
    Hedgehog Signaling in Mammals0.32
    5Basal cell carcinoma
    Basal cell carcinoma0.43
    Hedgehog signaling pathway0.43


    Find genes that share SuperPaths with PTCH2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for PTCH2
        Activation of PKA through GPCR
    PKA Signaling
    Molecular Mechanisms of Cancer
    CRHR Pathway
    Hedgehog Signaling in Mammals

    1 Cell Signaling Technology (CST) Pathway for PTCH2
        Wnt / Hedgehog / Notch

    1 Tocris Bioscience Pathway for PTCH2
        Hedgehog Pathway

    2 BioSystems Pathways for PTCH2
        Hedgehog Signaling Pathway
    Signaling events mediated by the Hedgehog family

    1 Reactome Pathway for PTCH2
        Class B/2 (Secretin family receptors)


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

        Pathway & Disease-focused RT2 Profiler PCR Array including PTCH2: 
              Hedgehog Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PTCH2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PTCH2 (Q9Y6C53 ENSP000003612664) via UniProtKB, MINT, STRING, and/or I2D (see all 49)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SHHQ154653, ENSP000002972614I2D: score=1 STRING: ENSP00000297261
    DHHO433233, ENSP000002669914I2D: score=1 STRING: ENSP00000266991
    IHHQ146233, ENSP000002957314I2D: score=1 STRING: ENSP00000295731
    SMOQ998353, ENSP000002493734I2D: score=2 STRING: ENSP00000249373
    ARRB1P494073I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction TAS11001584
    GO:0008544epidermis development IEA--
    GO:0042633hair cycle IEA--
    GO:0043588skin development ----
    GO:0045879negative regulation of smoothened signaling pathway TAS11001584

    Find genes that share ontologies with PTCH2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PTCH2 (PTC2)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PTCH2 gene (2 alternative transcripts): 
    NM_001166292.1  NM_003738.4  

    Unigene Cluster for PTCH2:

    Patched 2
    Hs.591497  [show with all ESTs]
    Unigene Representative Sequence: NM_001166292
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000438067 ENST00000372192(uc010olf.2 uc010olg.2) ENST00000447098(uc021omv.1)

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    Selected qRT-PCR Assays for microRNAs that regulate PTCH2 (see all 10):
    hsa-miR-15a hsa-miR-497 hsa-miR-214 hsa-miR-424 hsa-miR-3613-3p hsa-miR-195 hsa-miR-16 hsa-miR-761
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      QuantiFast Probe-based Assays in human, mouse, rat PTCH2

    Additional mRNA 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 AA781365 AF087651 AA781148 BI913889 AY358555 
    D61144 AI798853 D60319 D60589 AF091501 AY359016 D60853 AV739728 
    D80874 AV744412 D60408 D61174 BE843857 BF376868 BF376870 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PTCH2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACCGTGGCCA
    PTCH2 Expression
    About this image


    PTCH2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Thalamus
     
     Tooth (Integumentary System)    fully expand to see all 3 entries
             Inner Enamel Epithelial Cells Dental Enamel
     
     Epithelial Cells
             Inner Enamel Epithelial Cells Dental Enamel
     
     Eye (Sensory Organs)
             Retina
     
     Testis (Reproductive System)
    PTCH2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PTCH2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.591497
        Pathway & Disease-focused RT2 Profiler PCR Array including PTCH2: 
              Hedgehog Signaling Pathway in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTCH2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for PTCH2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ptch21 , 5 patched homolog 21, 5 88.23(n)1
    91.02(a)1
      4 (53.41 cM)5
    192071  NM_008958.21  NP_032984.11 
     1170960755 
    chicken
    (Gallus gallus)
    Aves PTCH26
    patched 2
    60(a)
    1 ↔ 1
    8(19696867-19712815)
    lizard
    (Anolis carolinensis)
    Reptilia PTCH26
    patched 2
    59(a)
    1 ↔ 1
    4(110653980-110715499)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xptch-22 patched-2 75.01(n)    AB037688.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ptc12 patched1 75.35(n)   30181  NM_130988.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ptc3 eye-antennal disc metamorphosis patched
    receptor
    37(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea ptc-13 membrane protein patched 37(a)
    (best of 2)
      II(7893189-7899632)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NCR16
    Vacuolar membrane protein that transits through th...
    15(a)
    1 → many
    XVI(544631-548143) YPL006W


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PTCH2 gene
    PTCH12  NPC12  SCAP2  NPC1L12  
    1 SIMAP similar gene for PTCH2 using alignment to 2 protein entries:     PTC2_HUMAN (see all proteins):
    PTCH1

    Find genes that share paralogs with PTCH2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PTCH2 (see all 801)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs351563711,2
    C--45290173(+) TTTTT-/TGAGAC 2 -- int12Minor allele frequency- T:0.00NA CSA 4
    rs1130509941,2
    C,F--45290903(+) CTCCCG/AGGTTC 2 -- int11Minor allele frequency- A:0.50CSA 2
    rs710405091,2
    C--45291517(-) GTCTCA/-AAAAA 2 -- int11Minor allele frequency- -:0.00NA 2
    rs106956941,2
    C--45299794(+) tttttTT/-ttttt 2 -- int1 trp31Minor allele frequency- -:0.00NA 2
    rs593724771,2
    C--45306866(+) CCCCCC/-AAAAA 2 -- int11Minor allele frequency- -:0.50CSA 2
    rs674336201,2
    C--45310073(+) CCCACC/-TTTTT 2 -- us2k11Minor allele frequency- -:0.50NA 2
    rs168322491,2
    C,F,H--45362936(+) CCACAA/CTAAGG 1 -- ds500112Minor allele frequency- C:0.26NA EA NS WA CSA 661
    rs784899071,2
    --45362986(+) GTTTAG/TCTCTT 1 -- ds50010--------
    rs1447601951,2
    C--45362990(+) ATCTCG/TTAAAT 1 -- ds50010--------
    rs168322501,2
    C,F--45362994(+) CTTAAA/CTCTGC 1 -- ds50013Minor allele frequency- C:0.01NA 142

    HapMap Linkage Disequilibrium report for PTCH2 (45285516 - 45308735 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for PTCH2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv870815CNV Loss21882294
    nsv461406CNV Loss19166990
    nsv870773CNV Loss21882294

    Human Gene Mutation Database (HGMD): PTCH2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PTCH2
    DNA2.0 Custom Variant and Variant Library Synthesis for PTCH2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603673   
    OMIM disorders: 155255  605462  
    UniProtKB/Swiss-Prot: PTC2_HUMAN, Q9Y6C5
  • 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. Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • 7 diseases for PTCH2:    
    About MalaCards
    commissural facial cleft    medulloblastoma    nevoid basal cell carcinoma syndrome    basal cell carcinoma
    macrostomia    fanconi anemia, complementation group g    basal cell carcinoma, somatic

    3 diseases from the University of Copenhagen DISEASES database for PTCH2:
    Nevoid basal cell carcinoma syndrome     Basal cell carcinoma     Medulloblastoma

    Find genes that share disorders with PTCH2           About GenesLikeMe

    Genetic Association Database (GAD): PTCH2
    Human Genome Epidemiology (HuGE) Navigator: PTCH2 (3 documents)

    Export disorders for PTCH2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PTCH2 gene, integrated from 10 sources (see all 15):
    (articles sorted by number of sources associating them with PTCH2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (Hum. Mol. Genet. 1999)
    2. Characterization of two patched receptors for the vertebrate hedgehog protein family. (PubMed id 9811851)1, 2, 3 Carpenter D.... de Sauvage F.J. (Proc. Natl. Acad. Sci. U.S.A. 1998)
    3. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 2010)
    4. Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk. (PubMed id 19237606)1, 4 Michiels S....Benhamou S. (Carcinogenesis 2009)
    5. [Studies on keratocystic odontogenic tumors]. (PubMed id 19221557)1, 4 Li T.J....Xu L.L. (Beijing Da Xue Xue Bao 2009)
    6. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    7. 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. (Genome Res. 2003)
    8. 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. (Cancer Res. 1999)
    9. Distinct roles of PTCH2 splice variants in Hedgehog signalling. (PubMed id 14613484)1, 9 Rahnama F....Zaphiropoulos P.G. (Biochem. J. 2004)
    10. 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. (Am. J. Med. Genet. A 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8643 HGNC: 9586 AceView: PTCH2 Ensembl:ENSG00000117425 euGenes: HUgn8643
    ECgene: PTCH2 Kegg: 8643 H-InvDB: PTCH2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PTCH2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PTCH2 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/ptch2/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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