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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PTCHD2 Gene

protein-coding   GIFtS: 45
GCID: GC01P011442

Patched Domain Containing 2

  See 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)
About This Section

Aliases
Patched Domain Containing 21 2
DISP32 3 5
Protein Dispatched Homolog 32 3
KIAA13373 5
Dispatched 32
Patched Domain-Containing Protein 22

External Ids:    HGNC: 292511   Entrez Gene: 575402   Ensembl: ENSG000002046247   OMIM: 6112515   UniProtKB: Q9P2K93   

Export aliases for PTCHD2 gene to outside databases

Previous GC identifer: GC01P010692


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for PTCHD2 Gene: 
PTCHD2 (patched domain containing 2) is a protein-coding gene. Diseases associated with PTCHD2 include gastric cancer, and thyroiditis. GO annotations related to this gene include molecular_function and hedgehog receptor activity. An important paralog of this gene is DISP1.


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_021937.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PTCHD2 gene promoter:
         AhR   Egr-3   SRF   Pax-5   SRF (504 AA)   NRSF form 1   NRSF form 2   Arnt   Egr-2   Chx10   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for PTCHD2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PTCHD2


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

Entrez Gene cytogenetic band: 1p36.22   Ensembl cytogenetic band:  1p36.22   HGNC cytogenetic band: 1p36.22

PTCHD2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PTCHD2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P011442:  view genomic region     (about GC identifiers)

Start:
11,539,223 bp from pter      End:
11,597,641 bp from pter
Size:
58,419 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PTHD2_HUMAN, Q9P2K9 (See protein sequence)
Recommended Name: Patched domain-containing protein 2  
Size: 1392 amino acids; 153048 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Developmental stage: Expressed in fetal brain
Sequence caution: Sequence=BAA92575.1; Type=Erroneous initiation; Sequence=CAB55303.1; Type=Erroneous initiation;
Sequence=CAH70606.1; Type=Erroneous gene model prediction; Sequence=CAI22474.1; Type=Erroneous gene model
prediction;
Secondary accessions: Q5VTU9 Q9UJD6
Alternative splicing: 2 isoforms:  Q9P2K9-1   Q9P2K9-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PTCHD2: NX_Q9P2K9

Explore proteomics data for PTCHD2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9P2K9

  • PTCHD2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PTCHD2 Protein Expression
    REFSEQ proteins: NP_065831.1  
    ENSEMBL proteins: 
     ENSP00000294484   ENSP00000303400   ENSP00000374226  

    Human Recombinant Protein Products for PTCHD2: 
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    Cloud-Clone Corp. Proteins for PTCHD2 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum ISS19179482
    GO:0016020membrane ----
    GO:0016021integral to membrane NAS15645143
    GO:0031965nuclear membrane ISS19179482

    PTCHD2 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for PTCHD2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR003392 Patched
     IPR000731 SSD
     IPR004869 MMPL-typ

    Graphical View of Domain Structure for InterPro Entry Q9P2K9

    ProtoNet protein and cluster: Q9P2K9

    1 Blocks protein domain: IPB003392 Patched family

    UniProtKB/Swiss-Prot: PTHD2_HUMAN, Q9P2K9
    Similarity: Belongs to the patched family
    Similarity: Contains 1 SSD (sterol-sensing) domain


    PTCHD2 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0008158hedgehog receptor activity IEA--
         
    PTCHD2 for ontologies           About GeneDecksing


    Animal Models:
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PTCHD2

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5/6 Interacting proteins for PTCHD2 (Q9P2K92, 3 ENSP000002944844) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYCBPQ994172, 3, ENSP000003807024MINT-65267 I2D: score=5 STRING: ENSP00000380702
    RASGRP2Q7LDG72, 3MINT-65755 I2D: score=4 
    CA2P009182, 3MINT-63343 I2D: score=3 
    CEACAM5P067313, ENSP000002219924I2D: score=1 STRING: ENSP00000221992
    MDFIENSP000002303214STRING: ENSP00000230321
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007224smoothened signaling pathway NAS16258256
    GO:0032368regulation of lipid transport NAS15645143
    GO:0042632cholesterol homeostasis ISS19179482

    PTCHD2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PTCHD2 (PTHD2)

    Search CenterWatch for drugs/clinical trials and news about PTCHD2 / PTHD2

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PTCHD2 gene: 
    NM_020780.1  

    Unigene Cluster for PTCHD2:

    Patched domain containing 2
    Hs.202355  [show with all ESTs]
    Unigene Representative Sequence: AB593117
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000423056(uc009vmz.1) ENST00000294484(uc001ash.4) ENST00000304391
    ENST00000389575(uc001asi.1)
    miRNA
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    6 QIAGEN miScript miRNA Assays for microRNAs that regulate PTCHD2:
    hsa-miR-320a hsa-miR-633 hsa-miR-320b hsa-miR-3662 hsa-miR-320d hsa-miR-1236
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PTCHD2
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    Additional mRNA sequence: 

    AB037758.1 AB593117.1 AL117235.1 AL117236.1 

    3 DOTS entries:

    DT.453469  DT.86852209  DT.95147760 

    9 AceView cDNA sequences:

    AL117236 AL117235 BU170953 AB037758 BI916161 BG910338 BI196393 H16623 
    BI916241 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PTCHD2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCGGCCGCCT
    PTCHD2 Expression
    About this image


    See PTCHD2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PTCHD2

    SOURCE GeneReport for Unigene cluster: Hs.202355

    UniProtKB/Swiss-Prot: PTHD2_HUMAN, Q9P2K9
    Tissue specificity: Expressed in brain and testis

        SABiosciences Expression via Pathway-Focused PCR Arrays including PTCHD2: 
              Hedgehog Signaling Pathway in human mouse rat
              Stem Cell Signaling in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTCHD2

    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for PTCHD2 gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ptchd21 , 5 patched domain containing 21, 5 86.34(n)1
    91.69(a)1
      4 (78.73 cM)5
    2427481  NM_001083342.11  NP_001076811.11 
     1482402645 
    chicken
    (Gallus gallus)
    Aves PTCHD21 patched domain containing 2 76.72(n)
    81.92(a)
      419497  NM_001199176.1  NP_001186105.1 
    lizard
    (Anolis carolinensis)
    Reptilia PTCHD26
    Uncharacterized protein
    77(a)
    1 ↔ 1
    GL343881.1(20431-82766)
    zebrafish
    (Danio rerio)
    Actinopterygii ptchd21 patched domain containing 2 61.52(n)
    59.87(a)
      100535855  XM_003199150.1  XP_003199198.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta disp6
    dispatched
    12(a)
    1 → many
    3R(1675416-1682033)
    worm
    (Caenorhabditis elegans)
    Secernentea che-146
    ptd-26
    Protein PTD-2
    11(a)
    11(a)
    many ↔ many
    many ↔ many
    I(5746725-5754278)
    V(9250275-9254223)


    ENSEMBL Gene Tree for PTCHD2 (if available)
    TreeFam Gene Tree for PTCHD2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PTCHD2 gene
    DISP12  DISP22  

    PTCHD2 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1456 SNPs in PTCHD2 are shown (see all 1456)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs120277661,2
    C,F--11537359(+) TGGCCA/GGTGGA 1 -- us2k19Minor allele frequency- G:0.47NA WA CSA EA 369
    rs790771471,2
    C,F--11537391(+) GTGCTG/AGAGCC 1 -- us2k12Minor allele frequency- A:0.10CSA WA 120
    rs345523051,2
    C,F--11537441(+) ACAAAC/TGGAAA 1 -- us2k15Minor allele frequency- T:0.20NA CSA EA 246
    rs2007885481,2
    --11537528(+) TTGCT-/CCCTTA 1 -- us2k10--------
    rs798563851,2
    C,F--11537623(+) TGGGAC/TTAGAA 1 -- us2k11Minor allele frequency- T:0.09WA 118
    rs716450991,2
    C,F--11537721(+) TTCTCG/AGGAGA 1 -- us2k12Minor allele frequency- A:0.50NA 4
    rs1172635441,2
    F--11537813(+) GGCCAG/TATGGA 1 -- us2k11Minor allele frequency- T:0.01EA 120
    rs791358181,2
    F--11537848(+) TTGGCC/AAACCT 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs1123777441,2
    C,F--11537853(+) CAACCT/GGGCAA 1 -- us2k12Minor allele frequency- G:0.06CSA WA 120
    rs20072151,2
    C,F,A,H--11537977(-) TAGACA/GCATTG 1 -- us2k137Minor allele frequency- G:0.37NA EA MN NS WA CSA 3792

    HapMap Linkage Disequilibrium report for PTCHD2 (11539223 - 11597641 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/12 variations for PTCHD2 (see all 12):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2657750CNV Deletion23128226
    nsv2632CNV Insertion18451855
    esv2628262CNV Insertion19546169
    esv26916CNV Loss19812545
    nsv465727CNV Loss19166990
    nsv832647CNV Loss17160897
    nsv832536CNV Loss17160897
    dgv138n71CNV Loss21882294
    nsv521736CNV Loss19592680
    nsv465505CNV Loss19166990

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 611251    OMIM disorders: --

    2 diseases for PTCHD2:    About MalaCards
    gastric cancer    thyroiditis


    PTCHD2 for disorders           About GeneDecksing


    Export disorders for PTCHD2 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)
    About This Section

    PubMed articles for PTCHD2 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with PTCHD2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of DISP3 gene in silico. (PubMed id 15645143)1, 2, 9 Katoh Y. and Katoh M. (2005)
    2. Identification and functional significance of genes regulated by structurally different histone deacetylase inhibitors. (PubMed id 15738394)1, 3 Peart M.J....Johnstone R.W. (2005)
    3. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10718198)1, 2 Nagase T.... Ohara O. (2000)
    4. Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. (PubMed id 21697133)1 Oshikawa M.... Kato S. (2011)
    5. DISP3, a sterol-sensing domain-containing protein tha t links thyroid hormone action and cholesterol metabolism. (PubMed id 19179482)1 Zikova M....Bartunek P. (2009)
    6. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (2006)
    7. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (2005)
    8. Hedgehog signaling pathway and gastric cancer. (PubMed id 16258256)1 Katoh Y. and Katoh M. (2005)
    9. The sequence of the human genome. (PubMed id 11181995)1 Venter J.C.... Zhu X. (2001)
    10. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (1996)

    (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, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 57540 HGNC: 29251 AceView: KIAA1337 Ensembl:ENSG00000204624 euGenes: HUgn57540
    ECgene: PTCHD2 H-InvDB: PTCHD2

    (According to HUGE)
    About This Section
    HUGE: KIAA1337

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PTCHD2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PTCHD2 gene:
    Search GeneIP for patents involving PTCHD2

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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