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PTPN14 Gene

protein-coding   GIFtS: 63
GCID: GC01M214523

Protein Tyrosine Phosphatase, Non-Receptor Type 14

  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)
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Aliases
Protein Tyrosine Phosphatase, Non-Receptor Type 141 2     Cytoskeletal-Associated Protein Tyrosine Phosphatase2
PEZ2 3 5     Tyrosine-Protein Phosphatase Non-Receptor Type 142
Protein-Tyrosine Phosphatase Pez2 3     PTPD23
EC 3.1.3.483 8     EC 3.1.38
PTP362     

External Ids:    HGNC: 96471   Entrez Gene: 57842   Ensembl: ENSG000001521047   OMIM: 6031555   UniProtKB: Q156783   

Export aliases for PTPN14 gene to outside databases

Previous GC identifers: GC01M213183 GC01M210351 GC01M211133 GC01M211587 GC01M210919 GC01M212597 GC01M214530 GC01M185197


(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 PTPN14 Gene:
The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to
be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation,
mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal noncatalytic domain similar to that
of band 4.1 superfamily cytoskeleton-associated proteins, which suggested the membrane or cytoskeleton
localization of this protein. It appears to regulate lymphatic development in mammals, and a loss of function
mutation has been found in a kindred with a lymphedema-choanal atresia. (provided by RefSeq, Sep 2010)

GeneCards Summary for PTPN14 Gene:
PTPN14 (protein tyrosine phosphatase, non-receptor type 14) is a protein-coding gene. Diseases associated with PTPN14 include choanal atresia, and choanal atresia and lymphedema. GO annotations related to this gene include protein tyrosine phosphatase activity and receptor tyrosine kinase binding. An important paralog of this gene is PTPN1.

UniProtKB/Swiss-Prot: PTN14_HUMAN, Q15678
Function: Protein tyrosine phosphatase which may play a role in the regulation of lymphangiogenesis, cell-cell
adhesion, cell-matrix adhesion, cell migration, cell growth and also regulates TGF-beta gene expression, thereby
modulating epithelial-mesenchymal transition. Mediates beta-catenin dephosphorylation at adhesion junctions. Acts
as a negative regulator of the oncogenic property of YAP, a downstream target of the hippo pathway, in a cell
density-dependent manner. May function as a tumor suppressor

Gene Wiki entry for PTPN14 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:
NC_000001.11  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PTPN14 gene promoter:
         TBP   AhR   FOXO3   FOXO3b   Roaz   FOXO4   FOXO3a   ZIC2/Zic2   c-Myc   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPTPN14 promoter sequence
   Search Chromatin IP Primers for PTPN14

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PTPN14


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

Entrez Gene cytogenetic band: 1q32.2   Ensembl cytogenetic band:  1q41   HGNC cytogenetic band: 1q32.2

PTPN14 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PTPN14 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M214523:  view genomic region     (about GC identifiers)

Start:
214,522,039 bp from pter      End:
214,725,792 bp from pter
Size:
203,754 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: PTN14_HUMAN, Q15678 (See protein sequence)
Recommended Name: Tyrosine-protein phosphatase non-receptor type 14  
Size: 1187 amino acids; 135261 Da
Subunit: Interacts with FLT4; the interaction is enhanced by stimulation with VEGFC. Interacts (via PPxY motifs)
with YAP1 (via WW domains); this interaction leads to the cytoplasmic sequestration of YAP1 and inhibits its
transcriptional co-activator activity
1 PDB 3D structure from and Proteopedia for PTPN14:
2BZL (3D)    
Secondary accessions: Q5VSI0

Explore the universe of human proteins at neXtProt for PTPN14: NX_Q15678

Explore proteomics data for PTPN14 at MOPED

Post-translational modifications: 

  • Ubiquitinated by the ECS (Elongin BC-CUL2/5-SOCS-box protein)/LRR1 E3 ligase complex and subsequently targeted to
    proteasomal degradation1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PTPN14 (Q15678) (see all 15)
     QVIRLAG  YIATQGP  PIVVHCS  VVHCSAG 


    See PTPN14 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005392.2  
    ENSEMBL proteins: 
     ENSP00000355923   ENSP00000443330  

    PTPN14 Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for PTPN14


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PTPN: Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor

    Selected InterPro protein domains (see all 13):
     IPR019748 FERM_central
     IPR019750 Band_41_fam
     IPR016130 Tyr_Pase_AS
     IPR000242 Tyr_Pase_rcpt/non-rcpt
     IPR019747 FERM_CS

    Graphical View of Domain Structure for InterPro Entry Q15678

    ProtoNet protein and cluster: Q15678

    2 Blocks protein domains:
    IPB000242 Protein tyrosine phosphatase signature
    IPB000299 Band 4.1 domain


    UniProtKB/Swiss-Prot: PTN14_HUMAN, Q15678
    Similarity: Belongs to the protein-tyrosine phosphatase family. Non-receptor class subfamily
    Similarity: Contains 1 FERM domain
    Similarity: Contains 1 tyrosine-protein phosphatase domain


    PTPN14 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PTN14_HUMAN, Q15678
    Function: Protein tyrosine phosphatase which may play a role in the regulation of lymphangiogenesis, cell-cell
    adhesion, cell-matrix adhesion, cell migration, cell growth and also regulates TGF-beta gene expression, thereby
    modulating epithelial-mesenchymal transition. Mediates beta-catenin dephosphorylation at adhesion junctions. Acts
    as a negative regulator of the oncogenic property of YAP, a downstream target of the hippo pathway, in a cell
    density-dependent manner. May function as a tumor suppressor
    Catalytic activity: Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate
    Induction: Up-regulated at protein level by cell density. However, at the mRNA level remains the same regardless
    of the status of cell density

         Genatlas biochemistry entry for PTPN14:
    protein tyrosine phosphatase,non receptor type 14

         Enzyme Numbers (IUBMB): EC 3.1.3.481 2 EC 3.1.32

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003712transcription cofactor activity IMP--
    GO:0004725protein tyrosine phosphatase activity IMP--
    GO:0005515protein binding IPI--
    GO:0008138protein tyrosine/serine/threonine phosphatase activity ----
    GO:0016791phosphatase activity ----
         
    PTPN14 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PTPN14:
     Decreased focal adhesion (FA)  

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ptpn14):
     craniofacial  growth/size/body  homeostasis/metabolism  immune system  vision/eye 

    PTPN14 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PTPN14
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PTPN14
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PTPN14

    miRNA
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    miRTarBase miRNAs that target PTPN14:
    hsa-mir-335-5p (MIRT018677), hsa-mir-324-3p (MIRT042932), hsa-mir-21-5p (MIRT030954)

    Block miRNA regulation of human, mouse, rat PTPN14 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PTPN14 (see all 135):
    hsa-miR-411* hsa-miR-576-3p hsa-miR-100* hsa-miR-3921 hsa-miR-342-3p hsa-miR-200b hsa-miR-92b hsa-miR-130b
    SwitchGear 3'UTR luciferase reporter plasmidPTPN14 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PTPN14

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    GenScript: all cDNA clones in your preferred vector: PTPN14 (NM_005401)
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTPN14


    (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
    PTN14_HUMAN, Q15678: Cytoplasm. Cytoplasm, cytoskeleton (By similarity). Nucleus. Note=Translocation into the
    nucleus is associated with induction of cell proliferation. Partially colocalized with actin filaments at the
    plasma membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    cytoskeleton2
    mitochondrion2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA10934049
    GO:0005856cytoskeleton IEA--

    PTPN14 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PTPN14 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1PAK Pathway
    Epithelial Adherens Junctions0.36

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for PTPN14
        Epithelial Adherens Junctions


        Pathway & Disease-focused RT2 Profiler PCR Array including PTPN14: 
              Protein Phosphatases in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for PTPN14

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

    Selected Interacting proteins for PTPN14 (Q156783 ENSP000003559234) via UniProtKB, MINT, STRING, and/or I2D (see all 33)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYCP011063, ENSP000003672074I2D: score=4 STRING: ENSP00000367207
    JUPP149233, ENSP000003111134I2D: score=2 STRING: ENSP00000311113
    TJP1Q071573, ENSP000002815374I2D: score=2 STRING: ENSP00000281537
    CTNNA1P352213, ENSP000003046694I2D: score=1 STRING: ENSP00000304669
    PTENP604843, ENSP000003610214I2D: score=1 STRING: ENSP00000361021
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001946lymphangiogenesis IMP--
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IEA--
    GO:0006470protein dephosphorylation TAS7733990
    GO:0008285negative regulation of cell proliferation IMP--

    PTPN14 for ontologies           About GeneDecksing



    (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 PTPN14 (PTN14)

    2 HMDB Compounds for PTPN14    About this table
    CompoundSynonyms CAS #PubMed Ids
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PTPN14 gene: 
    NM_005401.4  

    Unigene Cluster for PTPN14:

    Protein tyrosine phosphatase, non-receptor type 14
    Hs.193557  [show with all ESTs]
    Unigene Representative Sequence: NM_005401
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000366956(uc021piy.1 uc001hkk.2 uc010pty.2) ENST00000473261
    ENST00000486173 ENST00000491277(uc001hkl.2) ENST00000543945
    miRNA
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    Block miRNA regulation of human, mouse, rat PTPN14 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PTPN14 (see all 135):
    hsa-miR-411* hsa-miR-576-3p hsa-miR-100* hsa-miR-3921 hsa-miR-342-3p hsa-miR-200b hsa-miR-92b hsa-miR-130b
    SwitchGear 3'UTR luciferase reporter plasmidPTPN14 3' UTR sequence
    Inhib. RNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PTPN14
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      QuantiTect SYBR Green Assays in human, mouse, rat PTPN14
      QuantiFast Probe-based Assays in human, mouse, rat PTPN14

    Additional mRNA sequence: 

    AF086517.1 AK056963.1 AK090596.1 AK291641.1 AK298120.1 BC017300.2 BC101754.1 BC104803.1 
    HQ116786.1 X82676.1 

    10 DOTS entries:

    DT.110710  DT.115704  DT.121379273  DT.100741471  DT.91663207  DT.40122575  DT.100039762  DT.65287109 
    DT.91839835  DT.100725914 

    Selected AceView cDNA sequences (see all 81):

    BE079601 AU123431 BE018148 AI827210 CA397830 NM_005401 N72120 AA862009 
    BU507796 X82676 BE350700 AI739126 CD620452 AK090596 BE543054 BG171436 
    CD675759 BV206274 AU124760 AA441901 AW593282 BP364447 BI599500 BE079534 

    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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    PTPN14 expression in normal human tissues (normalized intensities)      PTPN14 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    PTPN14 Expression
    About this image


    PTPN14 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Epithelial Cells
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
     
     Bone (Muscoskeletal System)
             Mandibular Condyle
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Eye (Sensory Organs)
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
    PTPN14 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PTPN14 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.193557

    UniProtKB/Swiss-Prot: PTN14_HUMAN, Q15678
    Tissue specificity: Ubiquitous

        Pathway & Disease-focused RT2 Profiler PCR Array including PTPN14: 
              Protein Phosphatases in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTPN14

    (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 PTPN14 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ptpn141 , 5 protein tyrosine phosphatase, non-receptor type 141, 5 85.94(n)1
    91.65(a)1
      1 (95.03 cM)5
    192501  NM_008976.21  NP_033002.21 
     1897866335 
    chicken
    (Gallus gallus)
    Aves PTPN141 protein tyrosine phosphatase, non-receptor type 14 78.2(n)
    85.23(a)
      421360  XM_419419.3  XP_419419.2 
    lizard
    (Anolis carolinensis)
    Reptilia PTPN146
    protein tyrosine phosphatase, non-receptor type 14...
    82(a)
    1 ↔ 1
    1(239848811-239931076)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ptpn141 protein tyrosine phosphatase, non-receptor type 14 69.02(n)
    69.22(a)
      100379917  XM_002934689.2  XP_002934735.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Pez3 protein amino acid dephosphorylation
    protein tyrosine more
    36(a)   26C3   --


    ENSEMBL Gene Tree for PTPN14 (if available)
    TreeFam Gene Tree for PTPN14 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PTPN14 gene
    PTPN12  PTPN222  PTPN112  PTPN92  PTPN62  PTPRN22  PTPRN2  PTPN212  
    PTPN20B2  PTPN22  PTPN122  PTPN182  PTPN20A2  
    17 SIMAP similar genes for PTPN14 using alignment to 3 protein entries:     PTN14_HUMAN (see all proteins):
    PTPN21    DKFZp781C1038    PTPN4    FARP1    FRMD4B    PTN2
    EPB41L4A    DKFZp761A0712    FRMD5    BPTP-3    PTPN20A    PTPN20B
    PTPRR    DKFZp566K0524    PTPN5    EPB41L1    EPB41L2

    PTPN14 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), 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 PTPN14 (see all 4820)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0358504
    A breast cancer sample4--see VAR_0358502 H P mis40--------
    VAR_0358494
    A breast cancer sample4--see VAR_0358492 Q E mis40--------
    rs346679051,2
    C--185222149(+) ACAAT-/A/AA  
            
    AAAAA
    1 -- int10--------
    rs674158181,2
    C--185236125(+) CGTCAA/-AAAAA 1 -- int11Minor allele frequency- -:0.00NA 2
    rs720668751,2
    C--185256528(+) CTCCT-/TCTCTCT 1 -- int10--------
    rs114367491,2
    C--185280563(+) AAAAA-/ATCAGT 1 -- int1 trp30--------
    rs774451551,2
    C--185307288(+) GAATT-/GGTCTT 1 -- int10--------
    rs562481551,2
    C--185313339(+) CCCACG/CCCGCC 1 -- int11Minor allele frequency- C:0.00NA 2
    rs604174821,2
    C--185314180(+) TTTTAACTTTA/-
            
    TTATT
    1 -- cds11Minor allele frequency- -:0.00NA 2
    rs66828471,2
    C,F,A,H--185314202(+) AATGAC/TAAAGT 1 -- int124Minor allele frequency- T:0.16NS EA NA WA CSA 2194

    HapMap Linkage Disequilibrium report for PTPN14 (214522039 - 214725792 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for PTPN14:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2669067CNV Deletion23128226
    nsv468094CNV Loss19166990
    esv275028CNV Loss21479260
    nsv516687CNV Loss19592680

    Human Gene Mutation Database (HGMD): PTPN14
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PTPN14
    DNA2.0 Custom Variant and Variant Library Synthesis for PTPN14

    (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.)
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    OMIM gene information: 603155   
    OMIM disorders: 613611  
    UniProtKB/Swiss-Prot: PTN14_HUMAN, Q15678
  • Choanal atresia and lymphedema (CHATLY) [MIM:613611]: A disease characterized by posterior choanal
    atresia and lymphedema. Additional features are a high-arched palate, hypoplastic nipples, and mild pectus
    excavatum. Note=The disease is caused by mutations affecting the gene represented in this entry. A homozygous
    deletion in PTPN14 predicted to result in frameshift and premature truncation, has been shown to be the cause of
    choanal atresia and lymphedema in one family
  • Note=Influence clinical severity of hereditary haemorragic telagiectasia (HHT)
  • Note=Frequently mutated in a variety of human cancers (PubMed:15155950)

  • 11 diseases for PTPN14:    About MalaCards
    choanal atresia    choanal atresia and lymphedema    posterior choanal atresia    lymphedema
    breast and colorectal cancer    retinitis    colorectal cancer    multiple myeloma
    myeloma    endotheliitis    malaria

    1 disease from the University of Copenhagen DISEASES database for PTPN14:
    Choanal atresia

    PTPN14 for disorders           About GeneDecksing

    Genetic Association Database (GAD): PTPN14
    Human Genome Epidemiology (HuGE) Navigator: PTPN14 (1 document)

    Export disorders for PTPN14 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 PTPN14 gene, integrated from 10 sources (see all 43):
    (articles sorted by number of sources associating them with PTPN14)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Pez: a novel human cDNA encoding protein tyrosine phosphatase- and ezrin-like domains. (PubMed id 7733990)1, 2, 3 Smith A.L....Crompton M.R. (Biochem. Biophys. Res. Commun. 1995)
    2. The protein tyrosine phosphatase Pez is a major phosphatase of adherens junctions and dephosphorylates beta-catenin. (PubMed id 12808048)1, 2, 9 Wadham C.... Khew-Goodall Y. (Mol. Biol. Cell 2003)
    3. PTPN14 interacts with and negatively regulates the oncogenic function of YAP. (PubMed id 22525271)1, 2 Liu X....Zhang J. (Oncogene 2013)
    4. Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasia. (PubMed id 22233626)1, 2 Benzinou M....Akhurst R.J. (Nat. Commun. 2012)
    5. PTPN14 is required for the density-dependent control of YAP1. (PubMed id 22948661)1, 2 Wang W....Chen J. (Genes Dev. 2012)
    6. Protein tyrosine phosphatase PTPN14 is a regulator of lymphatic function and choanal development in humans. (PubMed id 20826270)1, 2 Au A.C.... Diaz G.A. (Am. J. Hum. Genet. 2010)
    7. 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)
    8. Crystal structure of human protein tyrosine phosphatase 14 (PTPN14) at 1.65-A resolution. (PubMed id 16534812)1, 2 Barr A.J.... Knapp S. (Proteins 2006)
    9. Translocation of protein tyrosine phosphatase Pez/PTPD2/PTP36 to the nucleus is associated with induction of cell proliferation. (PubMed id 10934049)1, 2 Wadham C.... Khew-Goodall Y. (J. Cell Sci. 2000)
    10. Effects of overexpression of PTP36, a putative protein tyrosine phosphatase, on cell adhesion, cell growth, and cytoskeletons in HeLa cells. (PubMed id 10212280)1, 9 Ogata M....Hamaoka T. (J. Biol. Chem. 1999)

    (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: 5784 HGNC: 9647 AceView: PTPN14 Ensembl:ENSG00000152104 euGenes: HUgn5784
    ECgene: PTPN14 H-InvDB: PTPN14

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for PTPN14 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PTPN14 Genetics and Cytogenetics in Oncology and Haematology

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

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    Patent Information for PTPN14 gene:
    Search GeneIP for patents involving PTPN14

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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