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PDLIM3 Gene

protein-coding   GIFtS: 54
GCID: GC04M186422

PDZ And LIM Domain 3

  See PDLIM3-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
PDZ And LIM Domain 31 2
ALP2 3 5
Alpha-Actinin-2-Associated LIM Protein2 3
Enigma Homolog2
PDZ And LIM Domain Protein 32
Actinin-Associated LIM Protein3

External Ids:    HGNC: 207671   Entrez Gene: 272952   Ensembl: ENSG000001545537   OMIM: 6058895   UniProtKB: Q53GG53   

Export aliases for PDLIM3 gene to outside databases

Previous GC identifers: GC04M187118 GC04M186798 GC04M186659 GC04M182175


(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 PDLIM3 Gene:
The protein encoded by this gene contains a PDZ domain and a LIM domain, indicating that it may be involved in
cytoskeletal assembly. In support of this, the encoded protein has been shown to bind the spectrin-like repeats
of alpha-actinin-2 and to colocalize with alpha-actinin-2 at the Z lines of skeletal muscle. Alternatively
spliced transcript variants encoding multiple isoforms have been observed for this gene. Aberrant alternative
splicing of this gene may play a role in myotonic dystrophy. (provided by RefSeq, Apr 2012)

GeneCards Summary for PDLIM3 Gene:
PDLIM3 (PDZ and LIM domain 3) is a protein-coding gene. Diseases associated with PDLIM3 include osteitis fibrosa, and myotonic dystrophy. GO annotations related to this gene include structural constituent of muscle and cytoskeletal protein binding. An important paralog of this gene is PDLIM4.

UniProtKB/Swiss-Prot: PDLI3_HUMAN, Q53GG5
Function: May play a role in the organization of actin filament arrays within muscle cells (By similarity)

Gene Wiki entry for PDLIM3 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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Regulatory elements:
   Regulatory transcription factor binding sites in the PDLIM3 gene promoter:
         TBP   Nkx2-5   Cdc5   C/EBPalpha   AREB6   MZF-1   GATA-6   TFIID   Cart-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPDLIM3 promoter sequence
   Search Chromatin IP Primers for PDLIM3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PDLIM3


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

Entrez Gene cytogenetic band: 4q35   Ensembl cytogenetic band:  4q35.1   HGNC cytogenetic band: 4q35

PDLIM3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PDLIM3 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M186422:  view genomic region     (about GC identifiers)

Start:
186,421,814 bp from pter      End:
186,456,766 bp from pter
Size:
34,953 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, 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: PDLI3_HUMAN, Q53GG5 (See protein sequence)
Recommended Name: PDZ and LIM domain protein 3  
Size: 364 amino acids; 39232 Da
Subunit: Interacts with ACTN2 (By similarity)
Secondary accessions: B2R866 O43590 O60439 O60440 Q8N6Y6 Q9BVP4
Alternative splicing: 3 isoforms:  Q53GG5-1   Q53GG5-2   Q53GG5-3   

Explore the universe of human proteins at neXtProt for PDLIM3: NX_Q53GG5

Explore proteomics data for PDLIM3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PDLIM3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001107579.1  NP_001244891.1  NP_001244892.1  NP_055291.2  

    ENSEMBL proteins: 
     ENSP00000284770   ENSP00000284771   ENSP00000425138   ENSP00000421972   ENSP00000284767  

    PDLIM3 Human Recombinant Protein Products:

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    Novus Biologicals PDLIM3 Protein
    Novus Biologicals PDLIM3 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PDLIM3

     
    Search eBioscience for Proteins for PDLIM3 

    PDLIM3 Antibody Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR006643 ZASP
     IPR001478 PDZ
     IPR001781 Znf_LIM

    Graphical View of Domain Structure for InterPro Entry Q53GG5

    ProtoNet protein and cluster: Q53GG5

    1 Blocks protein domain: IPB001781 Zn-binding protein

    UniProtKB/Swiss-Prot: PDLI3_HUMAN, Q53GG5
    Similarity: Contains 1 LIM zinc-binding domain
    Similarity: Contains 1 PDZ (DHR) domain


    Find genes that share domains with PDLIM3           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: PDLI3_HUMAN, Q53GG5
    Function: May play a role in the organization of actin filament arrays within muscle cells (By similarity)

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0008092cytoskeletal protein binding IEA--
    GO:0008270zinc ion binding IEA--
    GO:0008307structural constituent of muscle IEA--
         
    Find genes that share ontologies with PDLIM3           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for PDLIM3:
     Decreased Wnt reporter activit  Decreased influenza A virus in 

         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Pdlim3):
     cardiovascular system  homeostasis/metabolism  mortality/aging  muscle  normal 

    Find genes that share phenotypes with PDLIM3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Pdlim3tm1Dsb for PDLIM3

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PDLIM3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PDLIM3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PDLIM3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PDLIM3

    miRNA
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    miRTarBase miRNAs that target PDLIM3:
    hsa-mir-192-5p (MIRT026792), hsa-mir-215-5p (MIRT024819)

    Block miRNA regulation of human, mouse, rat PDLIM3 using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate PDLIM3:
    hsa-miR-4311 hsa-miR-634 hsa-miR-137 hsa-miR-186* hsa-miR-409-3p hsa-miR-629* hsa-miR-518a-5p hsa-miR-4323
    SwitchGear 3'UTR luciferase reporter plasmidPDLIM3 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PDLIM3
    Predesigned siRNA for gene silencing in human, mouse, rat PDLIM3

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): PDLIM3 (NM_001114107)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PDLIM3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PDLIM3

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    Browse ESI BIO Cell Lines and PureStem Progenitors for PDLIM3 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PDLIM3


    (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
    PDLI3_HUMAN, Q53GG5: Cytoplasm, myofibril, sarcomere, Z line. Note=Localizes to myofiber Z-lines
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    cytoskeleton2
    nucleus2
    mitochondrion1
    peroxisome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0015629actin cytoskeleton IEA--
    GO:0030018Z disc IEA--

    Find genes that share ontologies with PDLIM3           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 PDLIM3
    Interactions:

        GeneGlobe Interaction Network for PDLIM3

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

    Selected Interacting proteins for PDLIM3 (Q53GG51, 3 ENSP000002847704) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABCA1O954773, ENSP000003638684I2D: score=1 STRING: ENSP00000363868
    ACTN1P128143, ENSP000003779414I2D: score=1 STRING: ENSP00000377941
    RANBP2P497921EBI-5658852,EBI-973138
    ZNF408ENSP000003096064STRING: ENSP00000309606
    STK35ENSP000002460324STRING: ENSP00000246032
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007015actin filament organization IEA--
    GO:0007507heart development IEA--

    Find genes that share ontologies with PDLIM3           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 PDLIM3 (PDLI3)

    2 Novoseek inferred chemical compound relationships for PDLIM3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    creatinine 7.74 4 9268344 (1), 16419137 (1), 17764474 (1), 7798324 (1)
    calcium 0 6 16717394 (2), 15160545 (1), 9407400 (1), 11350446 (1)



    Find genes that share compounds with PDLIM3           About GenesLikeMe



    (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 PDLIM3 gene (4 alternative transcripts): 
    NM_001114107.4  NM_001257962.1  NM_001257963.1  NM_014476.5  

    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000284770(uc003ixw.4) ENST00000514142 ENST00000284771(uc003ixx.4 uc010isi.3)
    ENST00000514308 ENST00000505886 ENST00000512293 ENST00000504011(uc003ixy.3)
    ENST00000504355 ENST00000512380 ENST00000515261 ENST00000284767(uc003ixz.2)

    miRNA
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    8 qRT-PCR Assays for microRNAs that regulate PDLIM3:
    hsa-miR-4311 hsa-miR-634 hsa-miR-137 hsa-miR-186* hsa-miR-409-3p hsa-miR-629* hsa-miR-518a-5p hsa-miR-4323
    SwitchGear 3'UTR luciferase reporter plasmidPDLIM3 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for PDLIM3
    Predesigned siRNA for gene silencing in human, mouse, rat PDLIM3
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): PDLIM3 (NM_001114107)
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    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for PDLIM3
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat PDLIM3
      QuantiTect SYBR Green Assays in human, mouse, rat PDLIM3
      QuantiFast Probe-based Assays in human, mouse, rat PDLIM3

    Selected AceView cDNA sequences (see all 291):

    F18878 AI373942 F16327 AA886444 AW068999 N48284 BF445806 AA152089 
    BQ022468 AI139454 AL712617 BE045954 CR622133 F36732 CD677482 AA143127 
    BE408923 D57076 AI368681 AA595134 AI201475 T25134 CA449875 AI096674 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PDLIM3 (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c · 5d ^ 6 ^ 7a · 7b ^ 8 ^ 9
    SP1:                                      -     -                 -     -           -                     
    SP2:                                      -           -     -     -     -     -     -                     
    SP3:                                      -                                                               
    SP4:                    -     -           -     -                 -     -                                 
    SP5:                                      -     -                                                         


    ECgene alternative splicing isoforms for PDLIM3

    (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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    PDLIM3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTAGGGAGAA
    PDLIM3 Expression
    About this image


    PDLIM3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 18) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Zeugopod Epiphyseal End
             HyStem+TGFbeta3+GDF5-induced SK11 cells
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Cushion Mesenchymal Cells Endocardium
     
     Gonad
             Primordial germ cell-like cells
     
     Cartilage (Muscoskeletal System)
             HyStem+TGFbeta3+GDF5-induced SK11 cells
     
     Neural Tube (Nervous System)
             Mesencephalic Basal Plate
    PDLIM3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PDLIM3 Protein Expression

    UniProtKB/Swiss-Prot: PDLI3_HUMAN, Q53GG5
    Tissue specificity: Isoform 1 is highly expressed in differentiated skeletal muscle. Isoform 2 is heart-specific

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PDLIM3

    (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 chordates.

    Orthologs for PDLIM3 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pdlim35 PDZ and LIM domain 3   --   8 (25.86 cM) 45885485 
    chicken
    (Gallus gallus)
    Aves PDLIM36
    Gallus gallus PDZ and LIM domain 3 (PDLIM3), mRNA....
    68(a)
    1 ↔ 1
    4(60671425-60692637)
    lizard
    (Anolis carolinensis)
    Reptilia PDLIM36
    PDZ and LIM domain 3
    79(a)
    1 ↔ 1
    5(112753986-112795980)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.138942 Xenopus laevis transcribed sequence with moderate similarity more 78.46(n)    BJ063969.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pdlim3b6
    pdlim3a6
    PDZ and LIM domain 3a
    58(a)
    52(a)
    1 ↔ many
    1 ↔ many
    14(30652299-30669733) ENSDARG00000014248
    1(16463748-16477756) ENSDARG00000011023


    ENSEMBL Gene Tree for PDLIM3 (if available)
    TreeFam Gene Tree for PDLIM3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PDLIM3 gene
    PDLIM42  PDLIM12  PDLIM22  
    6 SIMAP similar genes for PDLIM3 using alignment to 2 protein entries:     PDLI3_HUMAN (see all proteins):
    PDLIM5    PDLIM7    PDLIM2    PDLIM1    LHx4    PDLIM4

    Find genes that share paralogs with PDLIM3           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 PDLIM3 (see all 927)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs623473601,2
    C,Funtested1186427735(+) GCTGTG/ATGGGC 9 /T /I mis13Minor allele frequency- A:0.01NA EU 5791
    rs119443251,2,,4
    C,F,Huntested1186435443(+) GATCAC/TGAAAG 8 M V mis1 int113Minor allele frequency- T:0.03NA NS EA CSA WA EU 6422
    rs1417846221,2
    --186421318(+) ATAGGA/GTTCAT 5 -- ds50010--------
    rs1437636161,2
    --186421356(+) TGATCC/TGACAG 5 -- ds50010--------
    rs1846231961,2
    --186421438(+) CCCGCC/TGCTCA 5 -- ds50010--------
    rs1899416551,2
    --186421439(+) CCGCCA/GCTCAC 5 -- ds50010--------
    rs1144974511,2
    C,F--186421485(+) GACTGG/CTATCA 5 -- ds50011Minor allele frequency- C:0.07WA 118
    rs727159071,2
    C--186421503(+) GTGGGA/GGCTGG 5 -- ds50010--------
    rs1813692161,2
    --186421552(+) TTCTAC/TTCAGC 5 -- ds50010--------
    rs1419762461,2
    --186421608(+) AGGTGC/TTGCCC 5 -- ds50010--------

    HapMap Linkage Disequilibrium report for PDLIM3 (186421814 - 186456766 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PDLIM3 (see all 21):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv4371CNV Deletion18987735
    esv2068423CNV Deletion18987734
    esv2657042CNV Deletion23128226
    esv2728910CNV Deletion23290073
    dgv134e180CNV Deletion20482838
    esv2430031CNV Deletion19546169
    nsv821047CNV Deletion20802225
    nsv4639CNV Loss18451855
    nsv499814CNV Loss21111241
    nsv511267CNV Loss21212237

    Human Gene Mutation Database (HGMD): PDLIM3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PDLIM3
    DNA2.0 Custom Variant and Variant Library Synthesis for PDLIM3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605889    OMIM disorders: --

    4 diseases for PDLIM3:    
    About MalaCards
    osteitis fibrosa    myotonic dystrophy    malignant histiocytosis    infantile onset spinocerebellar ataxia

    1 disease from the University of Copenhagen DISEASES database for PDLIM3:
    Infantile onset spinocerebellar ataxia

    Find genes that share disorders with PDLIM3           About GenesLikeMe

    7 Novoseek inferred disease relationships for PDLIM3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    muscular dystrophy facioscapulohumeral 73.7 2 10063829 (1)
    osteitis fibrosa 68 1 1474716 (1)
    paroxysmal atrial fibrillation 41.2 1 7699880 (1)
    myopathy 40.1 3 10821877 (2), 18260132 (1)
    bone diseases 36.3 1 10821877 (1)
    cardiomyopathy 9.83 2 11329061 (1)
    tumors 0 1 20042479 (1)

    Genetic Association Database (GAD): PDLIM3
    Human Genome Epidemiology (HuGE) Navigator: PDLIM3 (1 document)

    Export disorders for PDLIM3 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 PDLIM3 gene, integrated from 10 sources (see all 75):
    (articles sorted by number of sources associating them with PDLIM3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Exclusion of muscle specific actinin-associated LIM protein (ALP) gene from 4q35 facioscapulohumeral muscular dystrophy (FSHD) candidate genes. (PubMed id 10063829)1, 2, 3, 9 Bouju S.... Dechesne C.A. (Neuromuscul. Disord. 1999)
    2. Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. (PubMed id 19412328)1, 4 Hershberger R.E....Litt M. (Clin Transl Sci 2008)
    3. 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)
    4. Actinin-associated LIM protein: identification of a domain interaction between PDZ and spectrin-like repeat motifs. (PubMed id 9334352)1, 2 Xia H.... Bredt D.S. (J. Cell Biol. 1997)
    5. Novel gene transcripts preferentially expressed in human muscles revealed by quantitative hybridization of a high density cDNA array. (PubMed id 8828038)1, 3 PiActu G....Auffray C. (Genome Res. 1996)
    6. The ZASP-like motif in actinin-associated LIM protein is required for interaction with the alpha-actinin rod and for targeting to the muscle Z-line. (PubMed id 15084604)1, 9 Klaavuniemi T....YlAonne J. (J. Biol. Chem. 2004)
    7. Bcl2-associated athanogene 3 interactome analysis reveals a new role in modulating proteasome activity. (PubMed id 23824909)1 Chen Y....Ge F. (amp 2013)
    8. A promiscuous biotin ligase fusion protein identifies proximal and interacting proteins in mammalian cells. (PubMed id 22412018)1 Roux K.J.... Burke B. (J. Cell Biol. 2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    10. Alternative splicing of PDLIM3/ALP, for I+-actinin-associated LIM protein 3, is aberrant in persons with myotonic dystrophy. (PubMed id 21549096)1 Ohsawa N....Ishiura S. (Biochem. Biophys. Res. Commun. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 27295 HGNC: 20767 AceView: PDLIM3 Ensembl:ENSG00000154553 euGenes: HUgn27295
    ECgene: PDLIM3 H-InvDB: PDLIM3

    (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 PDLIM3 Pharmacogenomics, SNPs, Pathways

    (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 PDLIM3 gene:
    Search GeneIP for patents involving PDLIM3

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



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