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PAPLN Gene

protein-coding   GIFtS: 53
GCID: GC14P073704

Papilin, Proteoglycan-Like Sulfated Glycoprotein

  See PAPLN-related disease
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
Papilin, Proteoglycan-Like Sulfated Glycoprotein1 2
papilin2

External Ids:    HGNC: 192621   Entrez Gene: 899322   Ensembl: ENSG000001007677   UniProtKB: O954283   

Export aliases for PAPLN gene to outside databases

Previous GC identifers: GC14P071694 GC14P071696 GC14P072774 GC14P053869


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for PAPLN Gene:
PAPLN (papilin, proteoglycan-like sulfated glycoprotein) is a protein-coding gene. Diseases associated with PAPLN include weill-marchesani syndrome. GO annotations related to this gene include serine-type endopeptidase inhibitor activity and metalloendopeptidase activity. An important paralog of this gene is ADAMTSL4.

Gene Wiki entry for PAPLN Gene


(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_000014.8  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PAPLN gene promoter:
         GATA-3   STAT5A   C/EBPalpha   CHOP-10   AREB6   PPAR-gamma1   HOXA5   c-Myb   ZID   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPAPLN promoter sequence
   Search Chromatin IP Primers for PAPLN

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


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

Entrez Gene cytogenetic band: 14q24.2   Ensembl cytogenetic band:  14q24.2   HGNC cytogenetic band: 14q24.2

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

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P073704:  view genomic region     (about GC identifiers)

Start:
73,704,205 bp from pter      End:
73,741,348 bp from pter
Size:
37,144 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: PPN_HUMAN, O95428 (See protein sequence)
Recommended Name: Papilin precursor  
Size: 1278 amino acids; 137700 Da
Sequence caution: Sequence=AAC97963.1; Type=Erroneous gene model prediction; Sequence=BAC86235.1; Type=Erroneous
initiation; Note=Translation N-terminally extended; Sequence=BAG57189.1; Type=Erroneous initiation;
Note=Translation N-terminally shortened; Sequence=BAG57189.1; Type=Erroneous termination; Positions=1216;
Note=Translated as Glu; Sequence=BAG57757.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=CAH56406.1; Type=Miscellaneous discrepancy; Note=Partially unspliced mRNA;
Secondary accessions: B4DES8 B4DGE6 Q659F2 Q6UXJ4 Q6ZNM1 Q6ZUJ0 Q7Z681 Q8IVU0
Alternative splicing: 6 isoforms:  O95428-1   O95428-2   O95428-5   O95428-6   O95428-3   O95428-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PAPLN: NX_O95428

Explore proteomics data for PAPLN at MOPED

Post-translational modifications: 

  • Glycosylation2 at Ser701, Thr702, Thr706, Thr872, Ser897, Ser904, Ser1221, Thr1225
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_775733.3  
    ENSEMBL proteins: 
     ENSP00000345395   ENSP00000452455   ENSP00000216658   ENSP00000451803   ENSP00000451729  
     ENSP00000451053   ENSP00000453664   ENSP00000403403   ENSP00000370558  

    PAPLN Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for PAPLN
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PAPLN

     
    Search eBioscience for Proteins for PAPLN 

     
    Search antibodies-online for proteins for PAPLN 

     
    antibodies-online peptides for PAPLN

    PAPLN Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    antibodies-online antibodies for PAPLN (7 products) 

    PAPLN Assay Products:

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    Cloud-Clone Corp. ELISAs for PAPLN
    Cloud-Clone Corp. CLIAs for PAPLN
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    antibodies-online kits for PAPLN (4 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ISET: Immunoglobulin superfamily / I-set domain containing

    IUPHAR Guide to PHARMACOLOGY protein family classification: PAPLN
    ADAMTS family

    Selected InterPro protein domains (see all 10):
     IPR003598 Ig_sub2
     IPR000884 Thrombospondin_1_rpt
     IPR010909 PLAC
     IPR013098 Ig_I-set
     IPR002223 Prot_inh_Kunz-m

    Graphical View of Domain Structure for InterPro Entry O95428

    ProtoNet protein and cluster: O95428

    3 Blocks protein domains:
    IPB003598 Immunoglobulin C-2 type
    IPB008085 Thrombospondin type 1 repeat signature
    IPB013098 Immunoglobulin I-set


    UniProtKB/Swiss-Prot: PPN_HUMAN, O95428
    Similarity: Belongs to the papilin family
    Similarity: Contains 1 BPTI/Kunitz inhibitor domain
    Similarity: Contains 3 Ig-like C2-type (immunoglobulin-like) domains
    Similarity: Contains 1 PLAC domain
    Similarity: Contains 5 TSP type-1 domains


    Find genes that share domains with PAPLN           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): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004222metalloendopeptidase activity IEA--
    GO:0004867serine-type endopeptidase inhibitor activity IEA--
    GO:0005515protein binding ----
    GO:0008233peptidase activity ----
    GO:0008270zinc ion binding IEA--
         
    Find genes that share ontologies with PAPLN           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for PAPLN:
     Decreased viability with pacli 

         1 MGI phenotypic allele for Papln (no phenotypes)

    Find genes that share phenotypes with PAPLN           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Paplntm1Lex for PAPLN

       genOway: Develop your customized and physiologically relevant rodent model for PAPLN

    miRNA
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    Block miRNA regulation of human, mouse, rat PAPLN using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PAPLN (see all 9):
    hsa-miR-548p hsa-miR-3194-5p hsa-miR-205 hsa-miR-324-3p hsa-miR-3158-3p hsa-miR-890 hsa-miR-155 hsa-miR-29a*
    SwitchGear 3'UTR luciferase reporter plasmidPAPLN 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for PAPLN
    Predesigned siRNA for gene silencing in human, mouse, rat PAPLN

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for PAPLN

    Clone
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    OriGene clones in human, mouse for PAPLN (see all 6)
    OriGene ORF clones in mouse, rat for PAPLN
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PAPLN (NM_173462)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PAPLN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PAPLN

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for PAPLN 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PAPLN


    (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
    PPN_HUMAN, O95428: Secreted (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular3
    plasma membrane3
    cytosol1
    lysosome1
    mitochondrion1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005578proteinaceous extracellular matrix ----
    GO:0005604basement membrane IEA--
    GO:0031012extracellular matrix ----

    Find genes that share ontologies with PAPLN           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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PAPLN
    Interactions:

        Search GeneGlobe Interaction Network for PAPLN

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    Selected Interacting proteins for PAPLN (O954283 ENSP000003453954) via UniProtKB, MINT, STRING, and/or I2D (see all 28)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AKIRIN1Q9H9L73I2D: score=5 
    BICC1Q9H6943I2D: score=5 
    CYB5D2Q8WUJ13I2D: score=5 
    NUP54Q7Z3B43I2D: score=5 
    PYGMP112173I2D: score=5 
    About this table

    (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 PAPLN (PPN)



    (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 PAPLN gene: 
    NM_173462.3  

    Unigene Cluster for PAPLN:

    Papilin, proteoglycan-like sulfated glycoprotein
    Hs.509909  [show with all ESTs]
    Unigene Representative Sequence: NM_173462
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000340738(uc001xnw.4 uc010ttw.2 uc010arm.3 uc010arn.3)
    ENST00000555123 ENST00000216658 ENST00000554301 ENST00000555445 ENST00000555035
    ENST00000557061 ENST00000554314 ENST00000555700 ENST00000559759 ENST00000554527
    ENST00000427855(uc010arl.3 uc010ttx.2 uc010tty.2) ENST00000381166

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat PAPLN using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PAPLN (see all 9):
    hsa-miR-548p hsa-miR-3194-5p hsa-miR-205 hsa-miR-324-3p hsa-miR-3158-3p hsa-miR-890 hsa-miR-155 hsa-miR-29a*
    SwitchGear 3'UTR luciferase reporter plasmidPAPLN 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for PAPLN
    Predesigned siRNA for gene silencing in human, mouse, rat PAPLN
    Clone
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    OriGene clones in human, mouse for PAPLN (see all 6)
    OriGene ORF clones in mouse, rat for PAPLN
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PAPLN (NM_173462)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PAPLN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PAPLN
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for PAPLN
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PAPLN
      QuantiTect SYBR Green Assays in human, mouse, rat PAPLN
      QuantiFast Probe-based Assays in human, mouse, rat PAPLN

    Additional mRNA sequence: 

    AK021713.1 AK125658.1 AK126555.1 AK127354.1 AK131073.1 AK293773.1 AK294560.1 AY358330.1 
    BC042057.1 BC136623.1 BC144315.1 BX537757.1 

    11 DOTS entries:

    DT.100717869  DT.91901237  DT.100749627  DT.111315  DT.101974201  DT.100749628  DT.100683216  DT.40127819 
    DT.92014360  DT.92028546  DT.95142491 

    Selected AceView cDNA sequences (see all 89):

    AK125658 AK127354 AI628614 BF594725 BF592901 AI918676 BQ016936 N49018 
    BF115161 AA135886 AI830537 AA456549 NM_173462 AI656780 AL110280 AW236801 
    CA390119 CA397924 AI651904 BF592898 AA385094 BQ023790 BU685194 AL700644 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PAPLN (see all 8)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b · 16c ^ 17
    SP1:        -                                                                                                                                                   
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                      -                     
    SP5:                                                                                                                                                            


    ECgene alternative splicing isoforms for PAPLN

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


    PAPLN expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 2 entries
             PureStem SK11, NCr-fac & Meso-prx Progenitor
     
     Paraxial Mesoderm (Gastrulation Derivatives)
             PureStem SK11, NCr-fac & Meso-prx Progenitor
     
     Bone (Muscoskeletal System)
             HyStem+TGFbeta3+GDF5-induced 7SMOO32 cells
     
     Cartilage (Muscoskeletal System)
             HyStem+TGFbeta3+GDF5-induced 7SMOO32 cells
     
     Lateral Plate Mesoderm (Gastrulation Derivatives)
             PureStem SM30, NCr-fac & Meso-latp Progenitor
    PAPLN Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PAPLN Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.509909
        Custom PCR Arrays for PAPLN
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for PAPLN
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PAPLN
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    QuantiFast Probe-based Assays in human, mouse, rat PAPLN
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PAPLN

    (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 PAPLN gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Papln1 , 5 papilin, proteoglycan-like sulfated glycoprotein1, 5 79.02(n)1
    75.24(a)1
      12 (38.87 cM)5
    1707211  NM_001205343.11  NP_001192272.11 
     837636345 
    chicken
    (Gallus gallus)
    Aves PAPLN1 papilin, proteoglycan-like sulfated glycoprotein 60.27(n)
    53.77(a)
      428873  XM_004941664.1  XP_004941721.1 
    lizard
    (Anolis carolinensis)
    Reptilia PAPLN6
    papilin, proteoglycan-like sulfated glycoprotein
    48(a)
    1 ↔ 1
    1(39003344-39071636)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia papln1 papilin, proteoglycan-like sulfated glycoprotein 56.28(n)
    51.76(a)
      100489537  XM_004917234.1  XP_004917291.1 
    zebrafish
    (Danio rerio)
    Actinopterygii papln1 papilin, proteoglycan-like sulfated glycoprotein 54.68(n)
    48.34(a)
      562930  XM_005169885.1  XP_005169942.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ppn1 Papilin 47.42(n)
    37.7(a)
      43872  NM_001170290.2  NP_001163761.1 
    worm
    (Caenorhabditis elegans)
    Secernentea mig-66
    Protein MIG-6, isoform b
    16(a)
    1 ↔ 1
    V(7827232-7842384) WBGene00003242


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PAPLN gene
    ADAMTSL42  ADAMTS72  ADAMTS132  ADAMTS122  THSD42  ADAMTSL22  ADAMTSL52  ADAMTSL12  
    ENSG000002156162  ADAMTSL32  
    9 SIMAP similar genes for PAPLN using alignment to 6 protein entries:     PPN_HUMAN (see all proteins):
    COL28A1    ADAMTS16    ITIL    ADAMTSL5    ADAMTS13    SPINT3
    TFPI2    ADAMTSL1    ADAMTS10

    Find genes that share paralogs with PAPLN           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 PAPLN (see all 1127)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1402660511,2
    Cuntested173718386(+) ATGTTC/TGTGGG 2 R C mis11Minor allele frequency- T:0.00NA 4506
    rs30257951,2
    H--73702211(+) GTCCTC/TTTTGC 1 -- us2k14Minor allele frequency- T:0.00NS EA 420
    rs776672811,2
    C,F--73702323(+) GCTTCC/TCCCAC 1 -- us2k12Minor allele frequency- T:0.12CSA WA 120
    rs1488050541,2
    C--73702446(+) TTTTCC/TTCTTT 1 -- us2k10--------
    rs3624111,2
    C,F,H--73702501(+) TCTTTG/ACTTAA 1 -- us2k16Minor allele frequency- A:0.02MN NS EA WA 720
    rs171261471,2
    C,F,H--73702613(+) ATGTTC/TTAATA 1 -- us2k18Minor allele frequency- T:0.03NA NS EA WA 678
    rs1931200641,2
    --73702717(+) AGGGAA/GAAGTG 1 -- us2k10--------
    rs1423972031,2
    C--73702787(+) ACCACC/GCCACC 1 -- us2k10--------
    rs740610091,2
    C,F--73702798(+) CCCAAC/ACTCTC 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs783874141,2
    C,F--73702858(+) GATGAG/CTGAAT 1 -- us2k13Minor allele frequency- C:0.11WA NA EA 358

    HapMap Linkage Disequilibrium report for PAPLN (73704205 - 73741348 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for PAPLN:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv85407CNV Loss16902084
    nsv516851CNV Loss19592680
    dgv1957n71CNV Loss21882294
    nsv85914CNV Loss16902084
    nsv902085CNV Gain21882294
    esv33062CNV Gain17666407
    nsv902081CNV Gain21882294

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

    (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.)
    About This Section

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    1 disease for PAPLN:    
    About MalaCards
    weill-marchesani syndrome

    1 disease from the University of Copenhagen DISEASES database for PAPLN:
    Weill-Marchesani syndrome

    Find genes that share disorders with PAPLN           About GenesLikeMe

    Genetic Association Database (GAD): PAPLN
    Human Genome Epidemiology (HuGE) Navigator: PAPLN (2 documents)

    Export disorders for PAPLN 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

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    PubMed articles for PAPLN gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with PAPLN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Papilin in development; a pericellular protein with a homology to the ADAMTS metalloproteinases. (PubMed id 11076767)1, 3, 9 Kramerova I.A....Fessler J.H. (Development 2000)
    2. Genome-wide association study of suicidal ideation emerging during citalopram treatment of depressed outpatients. (PubMed id 19724244)1, 4, 9 Laje G....McMahon F.J. (Pharmacogenet. Genomics 2009)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. A disintegrin-like and metalloprotease (reprolysin-type) with thrombospondin type 1 motif (ADAMTS) superfamily: functions and mechanisms. (PubMed id 19734141)1, 3 Apte S.S. (J. Biol. Chem. 2009)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. 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)
    7. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    8. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    9. 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)
    10. The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)2 Heilig R.... Weissenbach J. (Nature 2003)

    (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)
    About This Section

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    Entrez Gene: 89932 HGNC: 19262 AceView: PAPLN Ensembl:ENSG00000100767 euGenes: HUgn89932
    ECgene: PAPLN H-InvDB: PAPLN

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for PAPLN Pharmacogenomics, SNPs, Pathways

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

    TryGeneCards Plus
    Patent Information for PAPLN gene:
    Search GeneIP for patents involving PAPLN

    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
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