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

PAPLN Gene

protein-coding   GIFtS: 52
GCID: GC14P073704

Papilin, Proteoglycan-Like Sulfated Glycoprotein

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

GeneCards Summary for PAPLN Gene: 
PAPLN (papilin, proteoglycan-like sulfated glycoprotein) is a protein-coding gene. Diseases associated with PAPLN include weill-marchesani syndrome, and brachydactyly. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NT_026437.12  NC_018925.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PAPLN

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: PPN_HUMAN, O95428 (See protein sequence)
Recommended Name: Papilin precursor  
Size: 1278 amino acids; 137700 Da
Subcellular location: Secreted (Potential)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O95428

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

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

    Human Recombinant Protein Products 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 

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

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

    PAPLN for ontologies           About GeneDecksing



    PAPLN Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for PAPLN 

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    Cloud-Clone Corp. CLIAs for PAPLN


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

    IUPHAR Guide to PHARMACOLOGY protein family classification: PAPLN 
    ADAMTS family

    5/10 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


    PAPLN 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): 5 molecular function terms (GO ID links to tree view):    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--
         
    PAPLN for ontologies           About GeneDecksing


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

         1 MGI phenotypic allele for Papln (no phenotypes)

    PAPLN for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Paplntm1Lex for PAPLN

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PAPLN 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PAPLN

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PAPLN 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PAPLN 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PAPLN
    8/9 QIAGEN miScript miRNA 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:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Gene Editing
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    Clone
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                         Customized lentivirus expression plasmids for stable overexpression of PAPLN 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PAPLN


    (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 PAPLN

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    5/14 Interacting proteins for PAPLN (O954283 ENSP000003453954) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    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 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 PAPLN (PPN)

    Search CenterWatch for drugs/clinical trials and news about 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,
    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 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:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PAPLN
    8/9 QIAGEN miScript miRNA 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:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for PAPLN
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PAPLN
    Clone
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    OriGene clones in human, mouse for PAPLN (see all 7)
    OriGene ORF clones in mouse, rat for PAPLN
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    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
    Sirion Biotech Customized lentivirus for stable overexpression of PAPLN 
                         Customized lentivirus expression plasmids for stable overexpression of PAPLN 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for PAPLN
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PAPLN
      QIAGEN 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 

    24/89 AceView cDNA sequences (see all 89):

    AL110280 BF592898 N49018 BF594725 AI656780 NM_173462 AI651904 AA456549 
    AA385094 BF115161 AI628614 BQ023790 AI199317 AK127354 AA135886 AI862632 
    CA390119 BF592901 AW236801 AL700644 CA397924 AI830537 BQ016936 BU685194 

    GeneLoc Exon Structure

    5/8 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™, 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

    PAPLN expression in normal human tissues (normalized intensities)      PAPLN embryonic expression: see
    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 
     5/14 selected tissues (see all 14) fully expand
     
     Uncategorized (Uncategorized)    fully expand to see all 3 entries
             PureStem progenitor SK17
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 2 entries
             PureStem SK11, NCr-fac & Meso-prx Progenitor
     
     Smooth Muscle (Muscoskeletal System)
             Human Bronchial Smooth Muscle Cells (HBSM)   
     
     Peripheral Nervous System (Nervous System)
             Human Schwann Cells (HSC)   
     
     Bone (Muscoskeletal System)
             HyStem+TGFbeta3+GDF5-induced 7SMOO32 cells

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

    SOURCE GeneReport for Unigene cluster: Hs.509909
        SABiosciences Custom PCR Arrays for PAPLN
    Primer
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    QIAGEN 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for PAPLN 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 Papln1 , 5 papilin, proteoglycan-like sulfated glycoprotein1, 5 78.88(n)1
    75.06(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 61.56(n)
    56.05(a)
      428873  XM_426430.3  XP_426430.3 
    lizard
    (Anolis carolinensis)
    Reptilia PAPLN6
    papilin, proteoglycan-like sulfated glycoprotein
    48(a)
    1 ↔ 1
    1(39003344-39071636)
    zebrafish
    (Danio rerio)
    Actinopterygii papln1 papilin, proteoglycan-like sulfated glycoprotein 54.87(n)
    48.38(a)
      562930  XM_001919000.3  XP_001919035.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ppn1 Papilin 47.04(n)
    37.24(a)
      43872  NM_001170290.1  NP_001163761.1 
    worm
    (Caenorhabditis elegans)
    Secernentea mig-66
    Papilin
    13(a)
    1 ↔ 1
    V(7827232-7842384)


    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)
    About This Section
    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

    PAPLN 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

    10/1127 SNPs in PAPLN are shown (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

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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
    2 diseases for PAPLN:    About MalaCards
    weill-marchesani syndrome    brachydactyly

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

    PAPLN for disorders           About GeneDecksing

    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

    PubMed articles for PAPLN gene, integrated from 9 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. (2000)
    2. Genome-wide association study of suicidal ideation em erging during citalopram treatment of depressed outpatients. (PubMed id 19724244)1, 4, 9 Laje G....McMahon F.J. (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. (2010)
    4. A disintegrin-like and metalloprotease (reprolysin-ty pe) with thrombospondin type 1 motif (ADAMTS) superfamily: functions and mechan isms. (PubMed id 19734141)1, 3 Apte S.S. (2009)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (2003)
    7. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (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. (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. (2004)
    10. The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)2 Heilig R.... Weissenbach J. (2003)

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

    (According to HUGE)
    About This Section
      --

    (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 PAPLN 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 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



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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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