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

PALLD Gene

protein-coding   GIFtS: 60
GCID: GC04P169418

Palladin, Cytoskeletal Associated Protein

  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
Palladin, Cytoskeletal Associated Protein1 2     CGI1512
Sarcoma Antigen NY-SAR-772 3     MYN2
SIH0022 3     myoneurin2
PNCA12 5     palladin2
KIAA09923 5     

External Ids:    HGNC: 170681   Entrez Gene: 230222   Ensembl: ENSG000001291167   OMIM: 6080925   UniProtKB: Q8WX933   

Export aliases for PALLD gene to outside databases

Previous GC identifers: GC04P169793 GC04P169654 GC04P165170


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

Entrez Gene summary for PALLD Gene:
This gene encodes a cytoskeletal protein that is required for organizing the actin cytoskeleton. The protein is a
component of actin-containing microfilaments, and it is involved in the control of cell shape, adhesion, and
contraction. Polymorphisms in this gene are associated with a susceptibility to pancreatic cancer type 1, and
also with a risk for myocardial infarction. Alternative splicing results in multiple transcript variants.
(provided by RefSeq, Oct 2009)

GeneCards Summary for PALLD Gene: 
PALLD (palladin, cytoskeletal associated protein) is a protein-coding gene. Diseases associated with PALLD include pancreatic cancer susceptibility 1, and pancreatic cancer. GO annotations related to this gene include muscle alpha-actinin binding and actin binding. An important paralog of this gene is MYOT.

UniProtKB/Swiss-Prot: PALLD_HUMAN, Q8WX93
Function: Cytoskeletal protein required for organization of normal actin cytoskeleton. Roles in establishing cell
morphology, motility, cell adhesion and cell-extracellular matrix interactions in a variety of cell types. May
function as a scaffolding molecule with the potential to influence both actin polymerization and the assembly of
existing actin filaments into higher-order arrays. Binds to proteins that bind to either monomeric or filamentous
actin. Localizes at sites where active actin remodeling takes place, such as lamellipodia and membrane ruffles.
Different isoforms may have functional differences. Involved in the control of morphological and cytoskeletal
changes associated with dendritic cell maturation. Involved in targeting ACTN to specific subcellular foci

Gene Wiki entry for PALLD (Palladin) 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_000004.11  NT_016354.19  NC_018915.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PALLD gene promoter:
         USF1   Pax-2   Pax-2a   RelA   Tal-1beta   NF-kappaB   E47   GATA-1   USF-1   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PALLD promoter sequence
   Search SABiosciences Chromatin IP Primers for PALLD

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PALLD


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

Entrez Gene cytogenetic band: 4q32.3   Ensembl cytogenetic band:  4q32.3   HGNC cytogenetic band: 4q32.3

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

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P169418:  view genomic region     (about GC identifiers)

Start:
169,418,217 bp from pter      End:
169,849,608 bp from pter
Size:
431,392 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: PALLD_HUMAN, Q8WX93 (See protein sequence)
Recommended Name: Palladin  
Size: 1383 amino acids; 150564 Da
Subunit: Interacts with EPS8, LASP1 and VASP (By similarity). Interacts with ACTN, ARGBP2, LPP, PFN1, SPIN90, SRC
and EZR
Subcellular location: Cytoplasm, cytoskeleton. Cell junction, focal adhesion. Cell projection, ruffle. Cell
projection, lamellipodium. Cytoplasm, myofibril, sarcomere, Z line. Note=Localizes to stress fibers and Z lines
Caution: Was wrongly assigned as myoneurin (Ref.2)
Sequence caution: Sequence=AAD34146.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=AAO65174.1; Type=Frameshift; Positions=1150, 1154; Sequence=BAA76836.1; Type=Erroneous initiation;
Note=Translation N-terminally shortened; Sequence=BAC04796.1; Type=Erroneous initiation; Note=Translation
N-terminally extended;
2 PDB 3D structures from and Proteopedia for PALLD:
2DM2 (3D)        2DM3 (3D)    
Secondary accessions: B3KTG2 B5MD56 B7ZMM5 Q7L3E0 Q7Z3W0 Q86WE8 Q8N1M2 Q9UGA0 Q9UQF5 Q9Y2J6
Q9Y3E9
Alternative splicing: 9 isoforms:  Q8WX93-1   Q8WX93-2   Q8WX93-3   Q8WX93-4   Q8WX93-5   Q8WX93-6   Q8WX93-7   Q8WX93-8   
Q8WX93-9   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PALLD: NX_Q8WX93

Explore proteomics data for PALLD at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated predominantly on serines and, to a lesser extent, on tyrosines (By similarity). Phosphorylation at
    Ser-1118 by PKB/AKT1 modulates cytoskeletal organization and cell motility
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8WX93

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

    PALLD Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001159580.1  NP_001159581.1  NP_001159582.1  NP_057165.3  

    ENSEMBL proteins: 
     ENSP00000261509   ENSP00000425556   ENSP00000423640   ENSP00000423063   ENSP00000424121  
     ENSP00000426947   ENSP00000422016   ENSP00000424288   ENSP00000422135   ENSP00000377327  
     ENSP00000424016   ENSP00000425729   ENSP00000328945   ENSP00000336735  

    Human Recombinant Protein Products for PALLD: 
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    Novus Biologicals PALLD Protein
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PALLD 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001726ruffle IEA--
    GO:0005634nucleus IDA11598191
    GO:0005884actin filament IDA11598191
    GO:0005925focal adhesion IEA--
    GO:0030018Z disc IEA--

    PALLD for ontologies           About GeneDecksing



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

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    Cloud-Clone Corp. ELISAs for PALLD 
    Cloud-Clone Corp. CLIAs for PALLD


    (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

    4 InterPro protein domains:
     IPR003598 Ig_sub2
     IPR013098 Ig_I-set
     IPR013783 Ig-like_fold
     IPR007110 Ig-like_dom

    Graphical View of Domain Structure for InterPro Entry Q8WX93

    ProtoNet protein and cluster: Q8WX93

    2 Blocks protein domains:
    IPB000634 Serine/threonine dehydratase
    IPB003598 Immunoglobulin C-2 type


    UniProtKB/Swiss-Prot: PALLD_HUMAN, Q8WX93
    Similarity: Belongs to the myotilin/palladin family
    Similarity: Contains 5 Ig-like C2-type (immunoglobulin-like) domains


    PALLD 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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PALLD_HUMAN, Q8WX93
    Function: Cytoskeletal protein required for organization of normal actin cytoskeleton. Roles in establishing cell
    morphology, motility, cell adhesion and cell-extracellular matrix interactions in a variety of cell types. May
    function as a scaffolding molecule with the potential to influence both actin polymerization and the assembly of
    existing actin filaments into higher-order arrays. Binds to proteins that bind to either monomeric or filamentous
    actin. Localizes at sites where active actin remodeling takes place, such as lamellipodia and membrane ruffles.
    Different isoforms may have functional differences. Involved in the control of morphological and cytoskeletal
    changes associated with dendritic cell maturation. Involved in targeting ACTN to specific subcellular foci
    Induction: Isoform 3 is expressed de novo. Isoform 4 is up-regulated by TGFB1 during myofibroblast differentiation

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005515protein binding IPI11598191
    GO:0051371muscle alpha-actinin binding TAS16125169
         
    PALLD for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Palld):
     cellular  embryogenesis  mortality/aging  nervous system 

    PALLD for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Palldtm1Zgwg for PALLD

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

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

    miRNA
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    hsa-miR-19b-2* hsa-miR-520d-5p hsa-miR-548k hsa-miR-25 hsa-miR-340 hsa-miR-124 hsa-miR-4325 hsa-miR-2116
    SwitchGear 3'UTR luciferase reporter plasmidPALLD 3' UTR sequence
    Inhib. RNA
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                         Customized lentivirus expression plasmids for stable overexpression of PALLD 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PALLD


    (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 PALLD

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

    5/52 Interacting proteins for PALLD (Q8WX932, 3 ENSP000002615094) via UniProtKB, MINT, STRING, and/or I2D (see all 52)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NCKIPSDQ9NZQ32, 3, ENSP000002941294MINT-8109267 I2D: score=1 STRING: ENSP00000294129
    SRCP129312, 3, ENSP000003509414MINT-8109298 I2D: score=1 STRING: ENSP00000350941
    SORBS2O948752, ENSP000002847764MINT-7213563 MINT-7213547 STRING: ENSP00000284776
    EZRP153113, ENSP000003389344I2D: score=3 STRING: ENSP00000338934
    ACTN2P356093, ENSP000003555374I2D: score=1 STRING: ENSP00000355537
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007010cytoskeleton organization NAS11598191

    PALLD for ontologies           About GeneDecksing



    (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 PALLD

    Search CenterWatch for drugs/clinical trials and news about PALLD

    (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 PALLD gene (4 alternative transcripts): 
    NM_001166108.1  NM_001166109.1  NM_001166110.1  NM_016081.3  

    Unigene Cluster for PALLD:

    Palladin, cytoskeletal associated protein
    Hs.151220  [show with all ESTs]
    Unigene Representative Sequence: NM_001166108
    18/19 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000261509(uc011cjx.2 uc003iru.3 uc003irv.3) ENST00000505667
    ENST00000511948 ENST00000508898 ENST00000504519 ENST00000512127 ENST00000513245
    ENST00000503457 ENST00000510998 ENST00000393726 ENST00000507735(uc003irw.3)
    ENST00000511611 ENST00000507325 ENST00000513187 ENST00000507699(uc003irx.3)
    ENST00000511682 ENST00000503290 ENST00000333488
    miRNA
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    8/21 QIAGEN miScript miRNA Assays for microRNAs that regulate PALLD (see all 21):
    hsa-miR-19b-2* hsa-miR-520d-5p hsa-miR-548k hsa-miR-25 hsa-miR-340 hsa-miR-124 hsa-miR-4325 hsa-miR-2116
    SwitchGear 3'UTR luciferase reporter plasmidPALLD 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PALLD

    Additional mRNA sequence: 

    AB023209.1 AF077041.1 AF151909.1 AF464873.1 AK000845.1 AK025843.1 AK057697.1 AK095512.1 
    AK096458.1 AL050093.1 AY211921.1 BC013867.2 BC140850.1 BC144666.1 BX537391.1 

    24 DOTS entries:

    DT.100824205  DT.95279621  DT.453461  DT.100031936  DT.99999343  DT.100662414  DT.100824207  DT.40248784 
    DT.75178414  DT.95252571  DT.121642668  DT.100824211  DT.99939264  DT.95204031  DT.95357104  DT.121241852 
    DT.121242024  DT.101961009  DT.121241806  DT.121241815  DT.121241923  DT.121241924  DT.95106857  DT.91835033 

    24/577 AceView cDNA sequences (see all 577):

    BU681949 R67712 CB145707 AA304847 BM797390 AA758806 BF000256 BC013867 
    BM822319 AK095512 AL598867 CD677633 AK057697 AA708449 AA426633 AI620967 
    AA297663 W79119 AI199683 AA380356 BE042576 BP379135 AA605013 BM786132 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for PALLD (see all 10)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17a · 17b · 17c ^ 18a · 18b ^ 19 ^
    SP1:                                                                                            -           -     -                                             
    SP2:                                                                                                                                                            
    SP3:                                -                                                                                                                           
    SP4:                                                                          -     -           -           -     -                                             
    SP5:                                                                                                                                                            

    ExUns: 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24a · 24b
    SP1:                          -               
    SP2:                          -               
    SP3:                                          
    SP4:                                          
    SP5:                                          


    ECgene alternative splicing isoforms for PALLD

    (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

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


    PALLD expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/9 selected tissues (see all 9) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Atrioventricular Canal Cells Atrioventricular Canal
             Outflow Tract
     
     Uterus (Reproductive System)
             Uterus Corpus   
     
     Primitive Streak (Early Embryonic Tissues)
             Mesendoderm-like cells ( Generation of mesendoderm and definitive endoderm cells...
     
     Bone (Muscoskeletal System)
             Mesenchymal Condensate Cells Zeugopod
     
     Cartilage (Muscoskeletal System)
             Mesenchymal Condensate Cells Zeugopod

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

    SOURCE GeneReport for Unigene cluster: Hs.151220

    UniProtKB/Swiss-Prot: PALLD_HUMAN, Q8WX93
    Tissue specificity: Detected in both muscle and non-muscle tissues. High expression in prostate, ovary, colon, and
    kidney. Not detected in spleen, skeletal muscle, lung and peripheral blood lymphocytes (at protein level).
    Protein is overexpressed in FA6, HPAF, IMIM-PC2, SUIT-2 and PancTu-II sporadic pancreatic cancer cell lines

        SABiosciences Custom PCR Arrays for PALLD
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    (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 PALLD gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Palld5 palladin, cytoskeletal associated protein   --   8 (31.23 cM) 61513246 
    chicken
    (Gallus gallus)
    Aves PALLD6
    palladin, cytoskeletal associated protein
    55(a)
    1 ↔ 1
    4(24486948-24675736)
    lizard
    (Anolis carolinensis)
    Reptilia PALLD6
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)
    75(a)
    69(a)
    (see all 3)
    1 ↔ many
    1 ↔ many
    (see all 3)
    GL343216.1(466445-496797)
    GL343216.1(337830-364241)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.19242 Xenopus laevis transcribed sequence with moderate similarity more 78.47(n)    BJ041619.1 
    zebrafish
    (Danio rerio)
    Actinopterygii PALLD6
    palladin, cytoskeletal associated protein
    47(a)
    1 ↔ 1
    20(23489189-23636541)
    fruit fly
    (Drosophila melanogaster)
    Insecta zormin6
    zormin
    5(a)
    1 → many
    3L(2117466-2151700)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PALLD gene
    MYOT2  MYPN2  OBSCN2  OBSL12  
    9 SIMAP similar genes for PALLD using alignment to 12 protein entries:     PALLD_HUMAN (see all proteins):
    DKFZp586L0518    KIAA0992    MYPN    MYOT    TTN    MYLK
    DKFZp686I10125    DCC    MUSK

    PALLD 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

    10/9262 SNPs in PALLD are shown (see all 9262)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs357864741,2
    C--165174303(+) GTCTC-/ACTCTTT 2 -- int11Minor allele frequency- AC:0.00NA 2
    rs2011281131,2
    --165177017(+) GTAAC-/CCAG  
            
    CCAGT
    2 -- int10--------
    rs30363211,2
    C--165177024(+) CCCAGACAG/-  
            
    TGTGC
    2 -- int11Minor allele frequency- -:0.00NA 2
    rs112994231,2
    C--165182693(+) AGTCTC/-CCCCT 2 -- int1 trp31Minor allele frequency- -:0.50CSA 2
    rs590291931,2
    C--165185224(+) AAAAC-/TTATATT 2 -- int12Minor allele frequency- TT:0.25CSA 4
    rs792247221,2
    --165185224(+) AAAACA/TTATAT 2 -- int10--------
    rs2018002351,2
    C--165188027(+) AAAAGA/GAAAAA 2 -- int10--------
    rs1408821001,2
    C--165189781(+) GATTA-/AACAACAG 2 -- int10--------
    rs341966121,2
    C--165191937(+) CTAAA-/CT    
       T
    /TCT
    CTGAT
    4 -- cds11CSA 2
    rs1480367201,2
    C--165193223(+) AAAAT-/ACTG  
            
    ACTTT
    2 -- int10--------

    HapMap Linkage Disequilibrium report for PALLD (169418217 - 169668217 bp, first 250kb of PALLD)

    Structural Variations
         Database of Genomic Variants (DGV) 10/27 variations for PALLD (see all 27):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2658080CNV Deletion23128226
    esv2728717CNV Deletion23290073
    esv2666829CNV Deletion23128226
    esv2728715CNV Deletion23290073
    esv2673045CNV Deletion23128226
    esv2728714CNV Deletion23290073
    esv2728716CNV Deletion23290073
    esv4297CNV Deletion18987735
    esv2666909CNV Deletion23128226
    esv1342986CNV Insertion17803354


    Human Gene Mutation Database (HGMD): PALLD
    SABiosciences Cancer Mutation PCR Assays
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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
    OMIM gene information: 608092   
    OMIM disorders: 606856  
    UniProtKB/Swiss-Prot: PALLD_HUMAN, Q8WX93
  • Pancreatic cancer 1 (PNCA1) [MIM:606856]: A malignant neoplasm of the pancreas. Tumors can arise from
    both the exocrine and endocrine portions of the pancreas, but 95% of them develop from the exocrine portion,
    including the ductal epithelium, acinar cells, connective tissue, and lymphatic tissue. Note=Disease
    susceptibility is associated with variations affecting the gene represented in this entry
  • Note=Genetic variations in PALLD may be associated with myocardial infarction

  • 20/21 diseases for PALLD (see all 21):    About MalaCards
    pancreatic cancer susceptibility 1    pancreatic cancer    dysplastic nevus syndrome    myocardial infarction
    sarcoma    pancreatitis    lipoma    beta thalassemia
    thalassemia    temporal lobe epilepsy    fatty liver disease    muscular dystrophy
    liver disease    coronary heart disease    kidney disease    atherosclerosis
    renal cell carcinoma    schizophrenia    melanoma    prostatitis

    2 diseases from the University of Copenhagen DISEASES database for PALLD:
    Dysplastic nevus syndrome     Pancreatic cancer

    PALLD for disorders           About GeneDecksing

    Genetic Association Database (GAD): PALLD
    Human Genome Epidemiology (HuGE) Navigator: PALLD (16 documents)

    Export disorders for PALLD 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 PALLD gene, integrated from 9 sources (see all 77):
    (articles sorted by number of sources associating them with PALLD)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The P239S palladin variant does not account for a significant fraction of hereditary or early onset pancreas cancer. (PubMed id 17415588)1, 2, 4 Zogopoulous G.... Gallinger S. (2007)
    2. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10231032)1, 2, 3 Nagase T.... Ohara O. (1999)
    3. Absence of deleterious palladin mutations in patients with familial pancreatic cancer. (PubMed id 19336541)1, 4, 9 Klein A.P....Goggins M. (2009)
    4. Palladin mutation causes familial pancreatic cancer and suggests a new cancer mechanism. (PubMed id 17194196)1, 2, 9 Pogue-Geile K.L.... Brentnall T.A. (2006)
    5. Identification of four gene variants associated with myocardial infarction. (PubMed id 16175505)1, 2, 9 Shiffman D.... Kane J.P. (2005)
    6. 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)
    7. The actin-bundling protein palladin is an Akt1-specif ic substrate that regulates breast cancer cell migration. (PubMed id 20471940)1, 2 Chin Y.R. and Toker A. (2010)
    8. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    9. Variations of specific non-candidate genes and risk o f myocardial infarction: A replication study. (PubMed id 19709766)1, 4 Koch W....Kastrati A. (2009)
    10. Association of a polymorphism of the apolipoprotein E gene with chronic kidney disease in Japanese individuals with metabolic syndrome. (PubMed id 19056482)1, 4 Yoshida T....Yamada Y. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
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    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: 23022 HGNC: 17068 AceView: KIAA0992 Ensembl:ENSG00000129116 euGenes: HUgn23022
    ECgene: PALLD H-InvDB: PALLD

    (According to HUGE)
    About This Section
    HUGE: KIAA0992

    (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 PALLD 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 PALLD gene:
    Search GeneIP for patents involving PALLD

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



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    About This Section

     
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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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