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PTCHD1 Gene

protein-coding   GIFtS: 51
GCID: GC0XP023352

Patched Domain Containing 1

  See PTCHD1-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 Domain Containing 11 2
Patched Domain-Containing Protein 12

External Ids:    HGNC: 263921   Entrez Gene: 1394112   Ensembl: ENSG000001651867   OMIM: 3008285   UniProtKB: Q96NR33   

Export aliases for PTCHD1 gene to outside databases

Previous GC identifers: GC0XP023112 GC0XP023262 GC0XP021094


(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 PTCHD1 Gene:
This gene encodes a membrane protein with a patched domain. The encoded protein is similar to Drosophila proteins
which act as receptors for the morphogen sonic hedgehog. Deletions in this gene, which is located on the X
chromosome, are associated with intellectual disability and autism (PMID: 21091464, PMID: 20844286). (provided by
RefSeq, Aug 2011)

GeneCards Summary for PTCHD1 Gene:
PTCHD1 (patched domain containing 1) is a protein-coding gene. Diseases associated with PTCHD1 include intellectual disability, and learning disability. GO annotations related to this gene include hedgehog receptor activity. An important paralog of this gene is PTCHD3.




(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_000023.10  NC_018934.2  NT_167197.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PTCHD1 gene promoter:
         MIF-1   Nkx5-1   E47   AREB6   POU2F1   POU2F1a   FOXO1a   MRF-2   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPTCHD1 promoter sequence
   Search Chromatin IP Primers for PTCHD1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PTCHD1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp22.11   Ensembl cytogenetic band:  Xp22.11   HGNC cytogenetic band: Xp22.13

PTCHD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PTCHD1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP023352:  view genomic region     (about GC identifiers)

Start:
23,352,133 bp from pter      End:
23,422,489 bp from pter
Size:
70,357 bases      Orientation:
plus 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PTHD1_HUMAN, Q96NR3 (See protein sequence)
Recommended Name: Patched domain-containing protein 1  
Size: 888 amino acids; 101341 Da
Secondary accessions: B4DQH0 Q0IJ60 Q6P6B8
Alternative splicing: 3 isoforms:  Q96NR3-1   Q96NR3-2   Q96NR3-3   

Explore the universe of human proteins at neXtProt for PTCHD1: NX_Q96NR3

Explore proteomics data for PTCHD1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn77, Asn133, Asn167, Asn319, Asn326, Asn568, Asn599, Asn608, Asn762, Asn818
  • Modification sites at PhosphoSitePlus

  • See PTCHD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_775766.2  
    ENSEMBL proteins: 
     ENSP00000368666   ENSP00000406663  

    PTCHD1 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PTCHD1

     
    Search eBioscience for Proteins for PTCHD1 

     
    antibodies-online proteins for PTCHD1 (2 products) 

     
    antibodies-online peptides for PTCHD1

    PTCHD1 Antibody Products:

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    antibodies-online antibodies for PTCHD1 (11 products) 

    PTCHD1 Assay Products:

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    Cloud-Clone Corp. CLIAs for PTCHD1
    Search eBioscience for ELISAs for PTCHD1 
    antibodies-online kits for PTCHD1 (4 products) 


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

    Graphical View of Domain Structure for InterPro Entry Q96NR3

    ProtoNet protein and cluster: Q96NR3

    UniProtKB/Swiss-Prot: PTHD1_HUMAN, Q96NR3
    Similarity: Belongs to the patched family
    Similarity: Contains 1 SSD (sterol-sensing) domain


    Find genes that share domains with PTCHD1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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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         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0008158hedgehog receptor activity IEA--
         
    Find genes that share ontologies with PTCHD1           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for PTCHD1

    miRNA
    Products:
        
    miRTarBase miRNAs that target PTCHD1:
    hsa-mir-128-3p (MIRT021976)

    Block miRNA regulation of human, mouse, rat PTCHD1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PTCHD1 (see all 69):
    hsa-miR-520e hsa-miR-938 hsa-miR-632 hsa-miR-877* hsa-miR-3161 hsa-miR-4325 hsa-miR-629 hsa-miR-29a*
    SwitchGear 3'UTR luciferase reporter plasmidPTCHD1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PTCHD1
    Predesigned siRNA for gene silencing in human, mouse, rat PTCHD1

    Gene Editing
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    OriGene clones in human, mouse for PTCHD1 (see all 7)
    OriGene ORF clones in mouse, rat for PTCHD1
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    GenScript: all cDNA clones in your preferred vector: PTCHD1 (NM_173495)
    Sino Biological Human cDNA Clone for PTCHD1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PTCHD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PTCHD1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTCHD1


    (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
    PTHD1_HUMAN, Q96NR3: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IDA--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with PTCHD1           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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        Pathway & Disease-focused RT2 Profiler PCR Array including PTCHD1: 
              Hedgehog Signaling Pathway in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for PTCHD1

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007224smoothened signaling pathway IDA--
    GO:0050890cognition IMP--

    Find genes that share ontologies with PTCHD1           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 PTCHD1 (PTHD1)



    (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 PTCHD1 gene: 
    NM_173495.2  

    Unigene Cluster for PTCHD1:

    Patched domain containing 1
    Hs.319503  [show with all ESTs]
    Unigene Representative Sequence: NM_173495
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000379361(uc010nfu.2 uc004dal.4) ENST00000456522
    miRNA
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    Block miRNA regulation of human, mouse, rat PTCHD1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PTCHD1 (see all 69):
    hsa-miR-520e hsa-miR-938 hsa-miR-632 hsa-miR-877* hsa-miR-3161 hsa-miR-4325 hsa-miR-629 hsa-miR-29a*
    SwitchGear 3'UTR luciferase reporter plasmidPTCHD1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for PTCHD1
    Predesigned siRNA for gene silencing in human, mouse, rat PTCHD1
    Clone
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    OriGene clones in human, mouse for PTCHD1 (see all 7)
    OriGene ORF clones in mouse, rat for PTCHD1
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    GenScript: all cDNA clones in your preferred vector: PTCHD1 (NM_173495)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PTCHD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PTCHD1
    Primer
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    OriGene qPCR primer pairs and template standards for PTCHD1
    OriGene qSTAR qPCR primer pairs in human, mouse for PTCHD1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PTCHD1
      QuantiTect SYBR Green Assays in human, mouse, rat PTCHD1
      QuantiFast Probe-based Assays in human, mouse, rat PTCHD1

    Additional mRNA sequence: 

    AK054858.1 AK298796.1 BC062344.1 BC121061.2 

    4 DOTS entries:

    DT.91901667  DT.117488  DT.99985097  DT.99965483 

    6 AceView cDNA sequences:

    BC062344 BU845398 NM_173495 AK054858 BE745995 AV721909 

    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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    PTCHD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTTGCTAAA
    PTCHD1 Expression
    About this image


    PTCHD1 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
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Blood (Cardiovascular System)
             Conventional Dendritic Cells II Spleen
     
     Head Mesenchyme (Muscoskeletal System)
             Frontonasal Process
     
     Spleen (Hematopoietic System)
             Conventional Dendritic Cells II Spleen
    PTCHD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PTCHD1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.319503

    UniProtKB/Swiss-Prot: PTHD1_HUMAN, Q96NR3
    Tissue specificity: Widely expressed, including in various regions of the brain with highest expression in the
    gray and white cerebellum, followed by the cerebellar vermis and the pituitary gland

        Pathway & Disease-focused RT2 Profiler PCR Array including PTCHD1: 
              Hedgehog Signaling Pathway in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for PTCHD1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTCHD1

    (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.

    Orthologs for PTCHD1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ptchd11 , 5 patched domain containing 11, 5 94.07(n)1
    98.09(a)1
      X (72.38 cM)5
    2116121  NM_001093750.11  NP_001087219.11 
     1555734555 
    chicken
    (Gallus gallus)
    Aves PTCHD11 patched domain containing 1 87.21(n)
    94.06(a)
      427995  XM_425565.4  XP_425565.3 
    lizard
    (Anolis carolinensis)
    Reptilia PTCHD16
    patched domain containing 1
    89(a)
    1 ↔ 1
    3(125469296-125550186)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ptchd11 patched domain containing 1 77.93(n)
    87.84(a)
      101731640  XM_004911662.1  XP_004911719.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ptchd11 patched domain containing 1 68.36(n)
    71.75(a)
      562268  XM_685662.2  XP_690754.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ptr6
    Patched-related
    19(a)
    1 → many
    2R(2069253-2083867)
    worm
    (Caenorhabditis elegans)
    Secernentea ptr-26
    ptr-156
    (see all 23)
    Protein PTR-15 (ptr-15) mRNA, complete cds
    (see all 23)
    22(a)
    19(a)
    (see all 23)
    many ↔ many
    many ↔ many
    (see all 23)
    I(3789306-3792797) WBGene00004217
    V(6966395-6970127) WBGene00004229


    ENSEMBL Gene Tree for PTCHD1 (if available)
    TreeFam Gene Tree for PTCHD1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PTCHD1 gene
    PTCHD32  PTCHD42  
    2 SIMAP similar genes for PTCHD1 using alignment to 2 protein entries:     PTHD1_HUMAN (see all proteins):
    C6orf138    PTCHD4

    Find genes that share paralogs with PTCHD1           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 PTCHD1 (see all 1050)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs343487181,2
    C--23265145(+) TCTTC-/CCCCCC 1 -- us2k10--------
    rs1922184591,2
    --23265175(+) TTCCTG/TTCCCT 1 -- us2k10--------
    rs1842820551,2
    --23265363(+) ACCCCA/CCTGGC 1 -- us2k10--------
    rs1879172561,2
    --23265513(+) CTATCA/CCGGGG 1 -- us2k10--------
    rs734677931,2
    C--23265735(+) TCTCAC/TACCTT 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs1930966501,2
    --23266201(+) TATTTC/TAAACG 1 -- us2k10--------
    rs1123767691,2
    C--23266400(+) CCCCCA/CACTCC 1 -- us2k11Minor allele frequency- C:0.00CSA 1
    rs1118241891,2
    C,F--23266441(+) CGGGGA/CCATTT 1 -- us2k11Minor allele frequency- C:0.00NA 1
    rs120144121,2
    C,F,H--23267166(+) TCGGCG/ACCGGT 2 /A syn1 ese35Minor allele frequency- A:0.02NS EA CSA 419
    rs2007816261,2
    --23267182(+) TCTCCA/GTCCTG 2 I V mis10--------

    HapMap Linkage Disequilibrium report for PTCHD1 (23352133 - 23422489 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for PTCHD1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv521962CNV Gain19592680

    Human Gene Mutation Database (HGMD): PTCHD1
    Locus Specific Mutation Databases (LSDB): PTCHD1

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing PTCHD1
    DNA2.0 Custom Variant and Variant Library Synthesis for PTCHD1

    (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: 300828    OMIM disorders: --

    3 diseases for PTCHD1:    
    About MalaCards
    intellectual disability    learning disability    mental retardation, x-linked 17/31, microduplication

    2 diseases from the University of Copenhagen DISEASES database for PTCHD1:
    Intellectual disability     Learning disability

    Find genes that share disorders with PTCHD1           About GenesLikeMe

    Genetic Association Database (GAD): PTCHD1
    Human Genome Epidemiology (HuGE) Navigator: PTCHD1 (1 document)

    Export disorders for PTCHD1 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 PTCHD1 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with PTCHD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. (PubMed id 20844286)1, 2 Noor A....Vincent J.B. (Sci. Transl. Med. 2010)
    2. Functional impact of global rare copy number variation in autism spectrum disorders. (PubMed id 20531469)1, 4 Pinto D....Betancur C. (Nature 2010)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. (PubMed id 22610502)1 Kennedy R.B....Poland G.A. (Hum. Genet. 2012)
    5. Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism. (PubMed id 21091464)1 Filges I....Miny P. (Clin. Genet. 2011)
    6. Framingham Heart Study genome-wide association: results for pulmonary function measures. (PubMed id 17903307)4 Wilk J.B....O'Connor G.T. (BMC Med. Genet. 2007)
    7. The DNA sequence of the human X chromosome. (PubMed id 15772651)2 Ross M.T.... Bentley D.R. (Nature 2005)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    10. Autism Spectrum Disorders (PubMed id 20301615)1 Pagon R.A....Stephens K. (1993)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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, Kegg, and/or H-InvDB)
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    Entrez Gene: 139411 HGNC: 26392 AceView: PTCHD1 Ensembl:ENSG00000165186 euGenes: HUgn139411
    ECgene: PTCHD1 H-InvDB: PTCHD1

    (According to HUGE)
    About This Section

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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 PTCHD1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PTCHD1 gene:
    Search GeneIP for patents involving PTCHD1

    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, eBioscience, antibodies-online, 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
    Advanced Cell Diagnostics, Animal models from genOway)
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