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MPP5 Gene

protein-coding   GIFtS: 63
GCID: GC14P067708

Membrane Protein, Palmitoylated 5 (MAGUK P55 Subfamily Member...

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(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
Membrane Protein, Palmitoylated 5 (MAGUK P55 Subfamily Member 5)1 2
stardust1 2
PALS12 5
MAGUK P55 Subfamily Member 52
Protein Associated With Lin Seven 12

External Ids:    HGNC: 186691   Entrez Gene: 643982   Ensembl: ENSG000000724157   OMIM: 6069585   UniProtKB: Q8N3R93   

Export aliases for MPP5 gene to outside databases

Previous GC identifers: GC14P065264 GC14P061501 GC14P065698 GC14P066777 GC14P047877


(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 MPP5 Gene:
This gene encodes a member of the p55-like subfamily of the membrane-associated guanylate kinase (MAGUK) gene
superfamily. The encoded protein participates in the polarization of differentiating cells, has been shown to
regulate myelinating Schwann cells (PMID: 20237282), and is one of the components of the Crumbs complex in the
retina. Mice which express lower levels of the orthologous protein have retinal degeneration and impaired vision
(PMID: 22114289). Multiple transcript variants encoding different isoforms have been found for this gene.
(provided by RefSeq, Feb 2012)

GeneCards Summary for MPP5 Gene:
MPP5 (membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)) is a protein-coding gene. GO annotations related to this gene include protein domain specific binding. An important paralog of this gene is MPP7.

UniProtKB/Swiss-Prot: MPP5_HUMAN, Q8N3R9
Function: May play a role in tight junctions biogenesis and in the establishment of cell polarity in epithelial
cells. May modulate SC6A1/GAT1-mediated GABA uptake by stabilizing the transporter. Required for localization of
EZR to the apical membrane of parietal cells and may play a role in the dynamic remodeling of the apical
cytoskeleton (By similarity)

Gene Wiki entry for MPP5 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 at NCBI GenBank:
NC_000014.8  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MPP5 gene promoter:
         C/EBPbeta   AML1a   Bach2   NF-E2 p45   HNF-3beta   C/EBPalpha   S8   POU2F1   POU2F1a   NF-E2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMPP5 promoter sequence
   Search Chromatin IP Primers for MPP5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MPP5


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

Entrez Gene cytogenetic band: 14q23.3   Ensembl cytogenetic band:  14q23.3   HGNC cytogenetic band: 14q23.3

MPP5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MPP5 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P067708:  view genomic region     (about GC identifiers)

Start:
67,707,826 bp from pter      End:
67,802,536 bp from pter
Size:
94,711 bases      Orientation:
plus 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MPP5_HUMAN, Q8N3R9 (See protein sequence)
Recommended Name: MAGUK p55 subfamily member 5  
Size: 675 amino acids; 77294 Da
Subunit: Interacts with CRB3, LIN7C and MPDZ. Interacts with INADL, PARD6B, SC6A1 and EZR (By similarity). Forms a
complex with CRB1 and MPP4. Component of a complex whose core is composed of ARHGAP17, AMOT, MPP5/PALS1,
INADL/PATJ and PARD3/PAR3. Heterodimer with MPP1. Interacts with MPP7
Sequence caution: Sequence=AAH53366.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=BAB14172.1; Type=Erroneous initiation;
2 PDB 3D structures from and Proteopedia for MPP5:
1Y76 (3D)        3UIT (3D)    
Secondary accessions: A1L380 Q7Z631 Q86T98 Q8N7I5 Q9H9Q0
Alternative splicing: 2 isoforms:  Q8N3R9-1   Q8N3R9-2   

Explore the universe of human proteins at neXtProt for MPP5: NX_Q8N3R9

Explore proteomics data for MPP5 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MPP5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001243479.1  NP_071919.2  

    ENSEMBL proteins: 
     ENSP00000261681   ENSP00000450550   ENSP00000451488   ENSP00000450656   ENSP00000451571  
    Reactome Protein details: Q8N3R9

    MPP5 Human Recombinant Protein Products:

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    antibodies-online peptides for MPP5

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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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    Selected InterPro protein domains (see all 10):
     IPR008144 Guanylate_kin-like
     IPR008145 GK/Ca_channel_bsu
     IPR014775 L27_C
     IPR001452 SH3_domain
     IPR011511 SH3_2

    Graphical View of Domain Structure for InterPro Entry Q8N3R9

    ProtoNet protein and cluster: Q8N3R9

    5 Blocks protein domains:
    IPB001452 SH3 domain signature
    IPB001478 PDZ/DHR/GLGF domain
    IPB004172 L27 domain
    IPB008144 Guanylate kinase
    IPB011511 Variant SH3


    UniProtKB/Swiss-Prot: MPP5_HUMAN, Q8N3R9
    Domain: The L27 domain 1 functions in targeting to the tight junctions by binding to INADL (By similarity)
    Domain: The PDZ domain binds to the C-terminus of SC6A1 (By similarity)
    Similarity: Belongs to the MAGUK family
    Similarity: Contains 1 guanylate kinase-like domain
    Similarity: Contains 2 L27 domains
    Similarity: Contains 1 PDZ (DHR) domain
    Similarity: Contains 1 SH3 domain


    Find genes that share domains with MPP5           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: MPP5_HUMAN, Q8N3R9
    Function: May play a role in tight junctions biogenesis and in the establishment of cell polarity in epithelial
    cells. May modulate SC6A1/GAT1-mediated GABA uptake by stabilizing the transporter. Required for localization of
    EZR to the apical membrane of parietal cells and may play a role in the dynamic remodeling of the apical
    cytoskeleton (By similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11927608
    GO:0019904protein domain specific binding IPI17332497
         
    Find genes that share ontologies with MPP5           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for MPP5:
     Increased cell death HMECs cel 

         11 MGI mutant phenotypes (inferred from 1 allele(MGI details for Mpp5):
     behavior/neurological  cellular  growth/size/body  hematopoietic system  immune system 
     integument  mortality/aging  nervous system  normal  reproductive system 
     vision/eye 

    Find genes that share phenotypes with MPP5           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for MPP5

    miRNA
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    miRTarBase miRNAs that target MPP5:
    hsa-mir-192-5p (MIRT026647), hsa-mir-21-5p (MIRT030917), hsa-mir-155-5p (MIRT020854), hsa-mir-375 (MIRT019954), hsa-mir-7-5p (MIRT025870), hsa-mir-130b-3p (MIRT020290), hsa-mir-148a-3p (MIRT025990), hsa-mir-93-3p (MIRT038797)

    Block miRNA regulation of human, mouse, rat MPP5 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MPP5 (see all 59):
    hsa-miR-3685 hsa-miR-302d hsa-miR-520e hsa-miR-607 hsa-miR-4307 hsa-miR-376b hsa-miR-429 hsa-miR-605
    SwitchGear 3'UTR luciferase reporter plasmidMPP5 3' UTR sequence
    Inhib. RNA
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    Addgene plasmids for MPP5 

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    (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
    MPP5_HUMAN, Q8N3R9: Cell membrane; Peripheral membrane protein. Endomembrane system; Peripheral membrane
    protein. Cell junction, tight junction. Note=Localized to the tight junctions of epithelial cells and a subset of
    intracellular vesicles. In the retina, detected at the outer limiting membrane (OLM), apical to the adherens
    junction (AJ), where it colocalizes with CRB1. Colocalizes with MPP1 in the retina at the outer limiting membrane
    (OLM). Localized to the Purkinje cell body and axon
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol2
    nucleus2
    cytoskeleton1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005886plasma membrane TAS--
    GO:0005923tight junction IEA--

    Find genes that share ontologies with MPP5           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 MPP5 About    
    See pathways by source

    SuperPathContained pathways About
    1Cell junction organization
    Cell junction organization0.70
    Cell-Cell communication0.64
    Cell-cell junction organization0.70
    Tight junction interactions0.51
    2Sertoli-Sertoli Cell Junction Dynamics
    Epithelial Tight Junctions0.36
    3GABA signaling in brain
    GABA signaling in brain0.32
    4Tight junction
    Tight junction
    5Hippo signaling pathway
    Hippo signaling pathway


    Find genes that share SuperPaths with MPP5           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for MPP5
        Epithelial Tight Junctions


    1 Reactome Pathway for MPP5
        Tight junction interactions


    2 Kegg Pathways  (Kegg details for MPP5):
        Hippo signaling pathway
    Tight junction

        Pathway & Disease-focused RT2 Profiler PCR Array including MPP5: 
              Tight Junctions in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MPP5

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

    Selected Interacting proteins for MPP5 (Q8N3R91, 2, 3 ENSP000002616814) via UniProtKB, MINT, STRING, and/or I2D (see all 93)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    INADLQ8NI351, 2, 3, ENSP000003602004EBI-2513978,EBI-724390 MINT-1774417 MINT-1774200 MINT-2843240 I2D: score=2 STRING: ENSP00000360200
    CRB1P822792, 3, ENSP000003563704MINT-1774397 I2D: score=1 STRING: ENSP00000356370
    AMOTQ4VCS53, ENSP000003610274I2D: score=3 STRING: ENSP00000361027
    COPS5Q929053, ENSP000003505124I2D: score=1 STRING: ENSP00000350512
    CRB3Q9BUF73, ENSP000003492044I2D: score=1 STRING: ENSP00000349204
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0032287peripheral nervous system myelin maintenance IEA--
    GO:0032288myelin assembly IEA--
    GO:0034329cell junction assembly TAS--
    GO:0035750protein localization to myelin sheath abaxonal region IEA--
    GO:0045216cell-cell junction organization TAS--

    Find genes that share ontologies with MPP5           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
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    Browse Tocris compounds for MPP5



    (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 MPP5 gene (2 alternative transcripts): 
    NM_001256550.1  NM_022474.3  

    Unigene Cluster for MPP5:

    Membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)
    Hs.652312  [show with all ESTs]
    Unigene Representative Sequence: NM_022474
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000261681(uc001xjc.3 uc001xjd.3) ENST00000554911 ENST00000556345(uc001xjb.1)
    ENST00000555925 ENST00000554208 ENST00000557783 ENST00000557237
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    Additional mRNA sequence: 

    AF131764.1 AK022677.1 AK098373.1 AK125287.1 AK291240.1 AL832326.1 AL832578.2 AL832936.1 
    BC053366.1 BC095485.1 BC129933.1 

    8 DOTS entries:

    DT.40130249  DT.99953602  DT.451898  DT.120743111  DT.100817148  DT.207810  DT.40262646  DT.75156420 

    Selected AceView cDNA sequences (see all 178):

    AA313893 AA421725 BE677719 AI251907 BF196689 BG111963 NM_022474 BC053366 
    AI146603 BU608208 BM052978 AA577040 N57638 AI741267 BU165135 AI768021 
    AI424950 AU136207 CA413052 CA420029 BI789202 H98871 CR605794 CA307850 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for MPP5    About this scheme

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


    ECgene alternative splicing isoforms for MPP5

    (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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    MPP5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCTAAGAAA
    MPP5 Expression
    About this image


    MPP5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)
             Oviduct
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    MPP5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MPP5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.652312

    UniProtKB/Swiss-Prot: MPP5_HUMAN, Q8N3R9
    Tissue specificity: Expressed in the retina (at protein level)

        Pathway & Disease-focused RT2 Profiler PCR Array including MPP5: 
              Tight Junctions in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MPP5

    (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 MPP5 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mpp51 , 5 membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5) less1, 5 91.51(n)1
    96.74(a)1
      12 (35.51 cM)5
    562171  NM_019579.31  NP_062525.11 
     787489475 
    chicken
    (Gallus gallus)
    Aves MPP51 membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5) less 82.67(n)
    91.7(a)
      423281  NM_001199705.1  NP_001186634.1 
    lizard
    (Anolis carolinensis)
    Reptilia MPP56
    membrane protein, palmitoylated 5 (MAGUK p55 subfa...
    89(a)
    1 ↔ 1
    GL343272.1(1254175-1290394)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.46932 Transcribed sequence with moderate similarity to protein refNP_071919.1 (H.sapiens) hypothetical protein FLJ12615 similar to membrane protein, palmi; hypothetical protein FLJ12615 similar to membrane protein, palmitoylated 3 (MAGUK p55 subfamily member less 77.84(n)    AL897334.2 
    zebrafish
    (Danio rerio)
    Actinopterygii nok2 nagie oko 72.84(n)   252845  AF510111.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta sdt1 , 3 establishment and/or maintenance of
    epithelial cell polarity guanylate
    kinase less3
    stardust1
    50(a)
    (best of 2)3
    55.96(n)1
    60.43(a)1
      448611  NM_001258647.11  NP_001245576.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C01B7.43 guanylate kinase 41(a)   V(8795611-8798133)   --


    ENSEMBL Gene Tree for MPP5 (if available)
    TreeFam Gene Tree for MPP5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MPP5 gene
    MPP72  DLG32  MPP62  DLG22  MPP22  MPP42  DLG42  DLG12  
    CASK2  MPP32  MPP12  
    11 SIMAP similar genes for MPP5 using alignment to 4 protein entries:     MPP5_HUMAN (see all proteins):
    DKFZp666F1010    MPP7    MPP6    GUK1    DKFZp761P0818    MPP3
    MPP2    DKFZp666D023    MPP1    MPP4    CASK

    Find genes that share paralogs with MPP5           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 MPP5 (see all 1913)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1399440991,2
    --67706066(+) TTTTTG/TATTGT 2 -- us2k10--------
    rs2021339571,2
    C--67706272(+) TATGT-/ATATAT 2 -- us2k10--------
    rs1123238321,2
    C,F--67706425(+) AAAATC/TAGCCG 2 -- us2k11Minor allele frequency- T:0.00NA 2
    rs1511852521,2
    --67706441(+) GGTGGC/TTGGCA 2 -- us2k10--------
    rs1926682771,2
    --67706560(+) AGAGCG/TAAACT 2 -- us2k10--------
    rs1402012731,2
    --67706910(+) CAAATA/CTGGGA 2 -- us2k10--------
    rs1847099561,2
    --67706914(+) TCTGGA/GAAGGG 2 -- us2k10--------
    rs1891777821,2
    --67707044(+) GAATGC/TGAAAG 2 -- us2k10--------
    rs1130709881,2
    C,F--67707163(+) GACTGG/TGCCCC 2 -- us2k11Minor allele frequency- T:0.00NA 2
    rs1807555081,2
    --67707621(+) TTTTTA/TAAAAA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for MPP5 (67707826 - 67802536 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for MPP5:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2663835CNV Deletion23128226
    esv2439123CNV Deletion19546169
    dgv1953n71CNV Loss21882294
    nsv84764CNV Loss16902084
    nsv470651CNV Gain18288195
    nsv902065CNV Gain21882294
    nsv456331CNV Gain19166990
    esv2751285CNV Gain17911159
    nsv832821CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MPP5
    DNA2.0 Custom Variant and Variant Library Synthesis for MPP5

    (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: 606958    OMIM disorders: --

    3 diseases from the University of Copenhagen DISEASES database for MPP5:
    Leber congenital amaurosis     Retinitis pigmentosa     Lymphedema

    Find genes that share disorders with MPP5           About GenesLikeMe

    1 Novoseek inferred disease relationship for MPP5 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinopathy 52.5 1 16519681 (1)


    Export disorders for MPP5 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 MPP5 gene, integrated from 10 sources (see all 50):
    (articles sorted by number of sources associating them with MPP5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The Maguk protein, Pals1, functions as an adapter, linking mammalian homologues of Crumbs and Discs Lost. (PubMed id 11927608)1, 3, 9 Roh M.H.... Margolis B. (J. Cell Biol. 2002)
    2. MPP5 recruits MPP4 to the CRB1 complex in photoreceptors. (PubMed id 15914641)1, 2, 9 Kantardzhieva A.... Wijnholds J. (Invest. Ophthalmol. Vis. Sci. 2005)
    3. The MAGUK protein MPP7 binds to the polarity protein hDlg1 and facilitates epithelial tight junction formation. (PubMed id 17332497)1, 2 Stucke V.M.... Hall A. (Mol. Biol. Cell 2007)
    4. MPP1 links the Usher protein network and the Crumbs protein complex in the retina. (PubMed id 17584769)1, 2 Gosens I.... Roepman R. (Hum. Mol. Genet. 2007)
    5. A Rich1/Amot complex regulates the Cdc42 GTPase and apical-polarity proteins in epithelial cells. (PubMed id 16678097)1, 2 Wells C.D.... Pawson T. (Cell 2006)
    6. A unified assembly mode revealed by the structures of tetrameric L27 domain complexes formed by mLin-2/mLin-7 and Patj/Pals1 scaffold proteins. (PubMed id 15863617)1, 2 Feng W.... Zhang M. (Proc. Natl. Acad. Sci. U.S.A. 2005)
    7. Membrane-associated guanylate kinase proteins MPP4 and MPP5 associate with Veli3 at distinct intercellular junctions of the neurosensory retina. (PubMed id 15558731)1, 2 Stoehr H.... Kraemer F. (J. Comp. Neurol. 2005)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. 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)
    10. Identification of human protein interaction domains using an ORFeome-based yeast two-hybrid fragment library. (PubMed id 23718855)1 Waaijers S....Boxem M. (J. Proteome Res. 2013)

    (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: 64398 HGNC: 18669 AceView: MPP5 Ensembl:ENSG00000072415 euGenes: HUgn64398
    ECgene: MPP5 Kegg: 64398 H-InvDB: MPP5

    (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 MPP5 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MPP5 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MPP5 gene:
    Search GeneIP for patents involving MPP5

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



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