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PTPLA Gene

protein-coding   GIFtS: 57
GCID: GC10M017631

Protein Tyrosine Phosphatase-Like (Proline Instead Of Catalytic...

(Previous names: protein tyrosine phosphatase-like (proline instead of catalytic...)
  See PTPLA-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
Protein Tyrosine Phosphatase-Like (Proline Instead Of Catalytic
Arginine), Member A1 2
     HACD12 3
Cementum Attachment Protein1 2 3     CAP2
Protein-Tyrosine Phosphatase-Like Member A2 3     Very-Long-Chain (3R)-3-Hydroxyacyl-[Acyl-Carrier Protein] Dehydratase 12
3-Hydroxyacyl-CoA Dehydratase 12 3     EC 4.2.1.1343

External Ids:    HGNC: 96391   Entrez Gene: 92002   Ensembl: ENSG000001659967   OMIM: 6104675   UniProtKB: B0YJ813   

Export aliases for PTPLA gene to outside databases

Previous GC identifers: GC10M017614 GC10M017782 GC10M017636 GC10M017672


(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 PTPLA Gene:
The protein encoded by this gene contains a characteristic catalytic motif of the protein tyrosine phosphatases
(PTPs) family. The PTP motif of this protein has the highly conserved arginine residue replaced by a proline
residue; thus it may represent a distinct class of PTPs. Members of the PTP family are known to be signaling
molecules that regulate a variety of cellular processes. This gene was preferentially expressed in both adult and
fetal heart. A much lower expression level was detected in skeletal and smooth muscle tissues, and no expression
was observed in other tissues. The tissue specific expression in the developing and adult heart suggests a role
in regulating cardiac development and differentiation. (provided by RefSeq, Jul 2008)

GeneCards Summary for PTPLA Gene:
PTPLA (protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A) is a protein-coding gene. Diseases associated with PTPLA include congenital fiber-type disproportion. GO annotations related to this gene include lyase activity and protein tyrosine phosphatase activity. An important paralog of this gene is PTPLAD2.

UniProtKB/Swiss-Prot: HACD1_HUMAN, B0YJ81
Function: Responsible for the dehydration step in very long-chain fatty acid (VLCFA) synthesis




(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_000010.10  NT_008705.17  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PTPLA gene promoter:
         POU2F2 (Oct-2.1)   POU3F1   FOXO3   POU2F2   FOXO3b   POU2F2C   POU2F1   POU2F1a   FOXO3a   POU2F2B   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPTPLA promoter sequence
   Search Chromatin IP Primers for PTPLA

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


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

Entrez Gene cytogenetic band: 10p14-p13   Ensembl cytogenetic band:  10p12.33   HGNC cytogenetic band: 10p14-p13

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

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M017631:  view genomic region     (about GC identifiers)

Start:
17,631,958 bp from pter      End:
17,659,376 bp from pter
Size:
27,419 bases      Orientation:
minus strand

1 alternative location:
Chr10-,NW_003315932 18,750-46,165     

(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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: HACD1_HUMAN, B0YJ81 (See protein sequence)
Recommended Name: Very-long-chain (3R)-3-hydroxyacyl-[acyl-carrier protein] dehydratase 1  
Size: 288 amino acids; 32388 Da
Subunit: Interacts with the condensation enzymes of the ELOVL family
Developmental stage: Expressed in fetal heart
Caution: Shares some similarity with tyrosine phosphatase proteins but it has probably no phosphatase activity
Sequence caution: Sequence=AAG10713.1; Type=Erroneous initiation; Sequence=ACA06059.1; Type=Erroneous initiation;
Secondary accessions: B0YJ80 Q6JIC5 Q96FW7 Q9HB93 Q9UHX2
Alternative splicing: 2 isoforms:  B0YJ81-1   B0YJ81-2   

Explore the universe of human proteins at neXtProt for PTPLA: NX_B0YJ81

Explore proteomics data for PTPLA at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn243
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_055056.3  
    ENSEMBL proteins: 
     ENSP00000355308   ENSP00000462868   ENSP00000462336   ENSP00000322923  

    PTPLA Human Recombinant Protein Products:

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    Novus Biologicals PTPLA Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PTPLA

     
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    LSBio Antibodies in human, mouse, rat for PTPLA

    PTPLA Assay Products:

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    Search eBioscience for ELISAs for PTPLA 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR007482 Tyr_Pase-like_PTPLA

    Graphical View of Domain Structure for InterPro Entry B0YJ81

    ProtoNet protein and cluster: B0YJ81

    UniProtKB/Swiss-Prot: HACD1_HUMAN, B0YJ81
    Similarity: Belongs to the very long-chain fatty acids dehydratase HACD family


    Find genes that share domains with PTPLA           About GenesLikeMe


    (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, 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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HACD1_HUMAN, B0YJ81
    Function: Responsible for the dehydration step in very long-chain fatty acid (VLCFA) synthesis
    Catalytic activity: A very-long-chain (3R)-3-hydroxyacyl-[acyl-carrier protein] = a very-long-chain
    trans-2,3-dehydroacyl-[acyl-carrier protein] + H(2)O

         Genatlas biochemistry entry for PTPLA:
    protein tyrosine phosphatase-like gene,member A,expressed in the developing and in adult heart,skeletal
    muscle,liver,testis,kidney

         Enzyme Number (IUBMB): EC 4.2.1.1341

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004725protein tyrosine phosphatase activity TAS10644438
    GO:0016829lyase activity IEA--
         
    Find genes that share ontologies with PTPLA           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PTPLA
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PTPLA

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target PTPLA:
    hsa-mir-652-3p (MIRT039523)

    Block miRNA regulation of human, mouse, rat PTPLA using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate PTPLA:
    hsa-miR-890 hsa-miR-875-3p hsa-miR-3658 hsa-miR-578 hsa-miR-3148 hsa-miR-1299
    SwitchGear 3'UTR luciferase reporter plasmidPTPLA 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PTPLA
    Predesigned siRNA for gene silencing in human, mouse, rat PTPLA

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: PTPLA (NM_014241)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PTPLA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PTPLA

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTPLA


    (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
    HACD1_HUMAN, B0YJ81: Endoplasmic reticulum membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane3
    extracellular1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with PTPLA           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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    SuperPaths for PTPLA About    
    See pathways by source

    SuperPathContained pathways About
    1Biosynthesis of unsaturated fatty acids
    Biosynthesis of unsaturated fatty acids0.38
    Fatty acid elongation0.38
    2Fatty acid metabolism
    Fatty acid metabolism0.42


    Find genes that share SuperPaths with PTPLA           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for PTPLA
        EphB-EphrinB Signaling
    Ephrin-Eph Signaling
    Insulin Receptor Pathway


    3 Kegg Pathways  (Kegg details for PTPLA):
        Fatty acid elongation
    Biosynthesis of unsaturated fatty acids
    Fatty acid metabolism

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

    Interactions:

        Search GeneGlobe Interaction Network for PTPLA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    Selected Interacting proteins for PTPLA (ENSP000003553084) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSD17B12ENSP000002783534STRING: ENSP00000278353
    GOLT1BENSP000002293144STRING: ENSP00000229314
    DHRS7ENSP000002165004STRING: ENSP00000216500
    DHRS7CENSP000003279754STRING: ENSP00000327975
    HSD17B3ENSP000003644124STRING: ENSP00000364412
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006470protein dephosphorylation TAS10644438
    GO:0006633fatty acid biosynthetic process IEA--
    GO:0007165signal transduction NAS10644438
    GO:0007275multicellular organismal development IEA--
    GO:0035335peptidyl-tyrosine dephosphorylation TAS10644438

    Find genes that share ontologies with PTPLA           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PTPLA (HACD1)



    (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 PTPLA gene: 
    NM_014241.3  

    Unigene Cluster for PTPLA:

    Protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A
    Hs.114062  [show with all ESTs]
    Unigene Representative Sequence: AY455942
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000361271(uc001ipg.3 uc001iph.1) ENST00000498812 ENST00000471481
    ENST00000466335 ENST00000326961(uc001ipi.3)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat PTPLA using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate PTPLA:
    hsa-miR-890 hsa-miR-875-3p hsa-miR-3658 hsa-miR-578 hsa-miR-3148 hsa-miR-1299
    SwitchGear 3'UTR luciferase reporter plasmidPTPLA 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for PTPLA
    Predesigned siRNA for gene silencing in human, mouse, rat PTPLA
    Clone
    Products:
         
    OriGene clones in human, mouse for PTPLA (see all 7)
    OriGene ORF clones in mouse, rat for PTPLA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PTPLA (NM_014241)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PTPLA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PTPLA
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for PTPLA
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PTPLA
      QuantiTect SYBR Green Assays in human, mouse, rat PTPLA
      QuantiFast Probe-based Assays in human, mouse, rat PTPLA

    Additional mRNA sequence: 

    AF114494.1 AY455942.1 BC010353.1 BC027709.2 

    7 DOTS entries:

    DT.307676  DT.100754130  DT.91956856  DT.92066360  DT.87046827  DT.91680246  DT.99951094 

    Selected AceView cDNA sequences (see all 40):

    AA906877 AI421808 CR608689 AY455942 AA701448 AI421699 BU753528 BC027709 
    BC010353 AI554017 NM_014241 BG150321 BU848953 BG770900 BG339916 CD299090 
    AL526596 CD299469 BE501654 BI545706 AW173524 AI085893 BF686638 BF672476 

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


    PTPLA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
    PTPLA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PTPLA Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.114062

    UniProtKB/Swiss-Prot: HACD1_HUMAN, B0YJ81
    Tissue specificity: Highly expressed in the myocardium, and to a lesser extent in skeletal and smooth muscular
    tissues including those from stomach, jejunum, and bladder

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

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for PTPLA
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PTPLA
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    QuantiFast Probe-based Assays in human, mouse, rat PTPLA
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTPLA

    (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 eukaryotes.

    Orthologs for PTPLA gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ptpla1 , 5 protein tyrosine phosphatase-like (proline instead more1, 5 88.71(n)1
    92.74(a)1
      2 (10.30 cM)5
    309631  NM_013935.31  NP_038963.31 
     139755635 
    chicken
    (Gallus gallus)
    Aves PTPLA1 protein tyrosine phosphatase-like (proline instead more 74.59(n)
    71.7(a)
      420518  XM_418620.4  XP_418620.2 
    lizard
    (Anolis carolinensis)
    Reptilia PTPLA6
    protein tyrosine phosphatase-like (proline instead...
    87(a)
    1 ↔ 1
    6(18154636-18177316)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ptpla1 protein tyrosine phosphatase-like (proline instead more 75.42(n)
    79.58(a)
      100145048  XM_002939003.2  XP_002939049.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5533261 uncharacterized LOC553326 72.04(n)
    75.62(a)
      553326  XM_694691.5  XP_699783.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG67463   -- 33(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea T15B7.23   -- 41(a)   V(6841886-6843068)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PHS1(YJL097W)4
    PHS11
    Essential 3-hydroxyacyl-CoA dehydratase of the ER membrane, more4
    PHS11
    46.74(n)1
    36.08(a)1
      10(245591-246244)4
    8533481, 4  NP_012438.11, 4 
    rice
    (Oryza sativa)
    Liliopsida Os01g01505001 Os01g0150500 47.25(n)
    37.86(a)
      4324520  NM_001048569.2  NP_001042034.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PTPLA gene
    PTPLAD22  PTPLAD12  PTPLB2  
    Selected SIMAP similar genes for PTPLA using alignment to 5 protein entries:     HACD1_HUMAN (see all proteins) (see all similar genes):
    RPL27A    NF2    PTPLB    DCTN5    ZNF564    ZNF737
    LAMB4    AURA2    FAM175A    LYRM4    HKR1    LINC00596
    OCEL1    FCHO2    UTY    TSEN2    LEPROTL1    SPATS2L

    Find genes that share paralogs with PTPLA           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 PTPLA (see all 710)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1917984341,2
    --17574342(+) AAAGAG/TCTAAA 1 -- us2k10--------
    rs1150466491,2
    F--17574352(+) ATAAAT/CAGCTG 1 -- us2k11Minor allele frequency- C:0.02WA 118
    rs127800321,2
    C,F,A,H--17574360(+) ctgttG/Ccctgt 1 -- us2k112Minor allele frequency- C:0.19NS EA WA NA 1196
    rs1394756421,2
    --17574390(+) ATACTA/GTTAAA 1 -- us2k10--------
    rs1158262881,2
    F--17631813(+) TGTGTT/CTTTAT 1 -- ds50011Minor allele frequency- C:0.03WA 118
    rs1459887241,2
    C--17631839(+) ACATC-/AAAAGTC 1 -- ds50010--------
    rs1144181381,2
    F--17631852(+) TACTTT/CAGCAA 1 -- ds50011Minor allele frequency- C:0.01WA 118
    rs1873582821,2
    --17631855(+) TTTAGC/TAAATT 1 -- ds50010--------
    rs793653691,2
    F--17631868(+) ATCCAC/TGCTTC 1 -- ds50011Minor allele frequency- T:0.01EA 120
    rs801718461,2
    C--17631903(+) CCTTA-/TTTCCT 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for PTPLA (17631958 - 17659376 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for PTPLA:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2669454CNV Deletion23128226
    esv1789699CNV Insertion17803354
    nsv894912CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610467    OMIM disorders: --

    1 disease for PTPLA:    
    About MalaCards
    congenital fiber-type disproportion

    2 diseases from the University of Copenhagen DISEASES database for PTPLA:
    Centronuclear myopathy     Arrhythmogenic right ventricular dysplasia

    Find genes that share disorders with PTPLA           About GenesLikeMe

    Genetic Association Database (GAD): PTPLA
    Human Genome Epidemiology (HuGE) Navigator: PTPLA (4 documents)

    Export disorders for PTPLA 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 PTPLA gene, integrated from 10 sources (see all 15):
    (articles sorted by number of sources associating them with PTPLA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning, chromosomal mapping, and developmental expression of a novel protein tyrosine phosphatase-like gene. (PubMed id 10644438)1, 2, 3, 9 Uwanogho D.A.... Sharpe P.T. (Genomics 1999)
    2. Human protein tyrosine phosphatase-like gene: expression profile, genomic structure, and mutation analysis in families with ARVD. (PubMed id 11054553)1, 2, 9 Li D.... Roberts R. (Gene 2000)
    3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    4. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (Am. J. Hum. Genet. 2006)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Isolation of protein-tyrosine phosphatase-like member-a variant from cementum. (PubMed id 22067203)1 ValdAcs De Hoyos A....Narayanan A.S. (J. Dent. Res. 2012)
    7. Characterization of HACD1 K64Q mutant found in arrhythmogenic right ventricular dysplasia patients. (PubMed id 20724468)1 Konishi H....Kihara A. (J. Biochem. 2010)
    8. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (Am. J. Hum. Genet. 2009)
    9. Genomic convergence to identify candidate genes for Alzheimer disease on chromosome 10. (PubMed id 19241460)1 Liang X....Haines J.L. (Hum. Mutat. 2009)
    10. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2008)

    (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: 9200 HGNC: 9639 AceView: PTPLA Ensembl:ENSG00000165996 euGenes: HUgn9200
    ECgene: PTPLA Kegg: 9200 H-InvDB: PTPLA

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PTPLA Pharmacogenomics, SNPs, Pathways

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

    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, LSBio, eBioscience, 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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