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

MPP5 Gene

protein-coding   GIFtS: 60
GCID: GC14P067708

membrane protein, palmitoylated 5 (MAGUK p55 subfamily member...
 Explore 11 diseases affiliated with
MPP5 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for MPP5    

Aliases
for MPP5 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Membrane Protein, Palmitoylated 5 (MAGUK P55 Subfamily Member 5)1 2
PALS11 2 5
FLJ126151
MAGUK P55 Subfamily Member 52
Protein Associated With Lin Seven 12
Stardust1

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


Summaries
for MPP5 gene

(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 MPP5:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   SABiosciences 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 plasmid: MPP5 promoter sequence
   Search SABiosciences Chromatin IP Primers for MPP5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for MPP5 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: 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
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8N3R9

    • MPP5 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000261681   ENSP00000450550   ENSP00000451488   ENSP00000450656   ENSP00000451571  
    Reactome Protein details: Q8N3R9
    Human Recombinant Protein Products: 
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for MPP5

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005886plasma membrane TAS--
    GO:0005923tight junction IEA--
    GO:0012505endomembrane system IEA--
    GO:0035749myelin sheath adaxonal region IEA--


    MPP5 for ontologies           About GeneDecksing



    MPP5 Antibody Products: 
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    Uscn ELISAs and CLIAs for MPP5

    Protein Domains /
    Families
    for MPP5 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    MPP5 for domains           About GeneDecksing

    5/9 InterPro domains/families (see all 9):
     IPR008144 Guanylate_kin
     IPR008145 Guanylate_kin/L-typ_Ca_channel
     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 families:
    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


    Function
    for MPP5 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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)

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MPP5
    8/59 QIAGEN miScript miRNA 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 plasmid: MPP5 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: MPP5
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    Gene Editing
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MPP5 (see all 3)
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    Cell Line
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    In Situ Assay
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17584769
    GO:0019904protein domain specific binding IPI17332497


    MPP5 for ontologies           About GeneDecksing


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

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

    MPP5 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for MPP5 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Cell-cell junction organization
    		Cell-cell junction organization1.00
    		Tight junction interactions0.49
    		Cell junction organization0.69
    		Cell-Cell communication0.45
    2Tight junction
    		Tight junction1.00
    3Sertoli-Sertoli Cell Junction Dynamics
    		Epithelial Tight Junctions0.36
    4GABA A receptor activation
    		GABA signaling in brain0.26

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for MPP5
        GABA signaling in brain

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

    4        Reactome Pathways for MPP5
        Tight junction interactions
    Cell junction organization
    Cell-Cell communication
    Cell-cell junction organization


    1         Kegg Pathway  (Kegg details for MPP5):
        Tight junction


    MPP5 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MPP5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/56 Interacting proteins for MPP5 (Q8N3R92, 3 ENSP000002616814) via UniProtKB, MINT, STRING, and/or I2D (see all 56)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    INADLQ8NI352, 3, ENSP000003602004MINT-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): 5/7 biological process terms (GO ID links to tree view) (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--


    MPP5 for ontologies           About GeneDecksing



    Drugs & Compounds
    for MPP5 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 MPP5
    Search CenterWatch for drugs/clinical trials and news about MPP5 

    Transcripts
    for MPP5 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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

    miRNA
    Products:             		 OriGene 3'-UTR Clone: MPP5
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MPP5
    8/59 QIAGEN miScript miRNA 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 plasmid: MPP5 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MPP5 (see all 7)
    OriGene shRNA RFP: MPP5
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    Clone
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    GenScript: all cDNA clones in your preferred vector: MPP5 (NM_022474)
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    Primer
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    Additional cDNA 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 

    24/178 AceView cDNA sequences (see all 178):

    BI789202 BQ776182 AA421725 H98871 CA413052 AA015949 AW955827 NM_022474 
    CA307850 AA577040 AA313893 N57638 CA420029 BF196689 AA422051 AU136207 
    AI424950 BC037966 AW055158 AA310313 BU165135 CR605794 AI768021 BM052978 

    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

    Expression
    for MPP5 gene

    (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

    MPP5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCCTAAGAAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See MPP5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MPP5

    SOURCE GeneReport for Unigene cluster: Hs.652312

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

        SABiosciences Expression via Pathway-Focused PCR Array including MPP5: 
              Tight Junctions in human mouse rat

    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MPP5
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MPP5

    Orthologs
    for MPP5 gene

    (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 last universal common ancestor (LUCA).

    Orthologs for MPP5 gene from 9/33 species (see all 33)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves MPP51 membrane protein, palmitoylated 5 (MAGUK p55 subfamily more 82.67(n)
    91.7(a)    		   423281  NM_001199705.1  NP_001186634.1 
    lizard
    (Anolis carolinensis)    		 Reptilia MPP56
    GUK16
    (see all 3)    		 --
    		 91(a)
    26(a)
    (see all 3)    		 1 ↔ 1
    possible ortholog
    (see all 3)    		 GL343272.1(1254175-1290242)
    6(3239249-3249911)
    tropical clawed frog
    (Xenopus tropicalis)    		 Amphibia Str.46932 Transcribed sequence with moderate similarity to protein more 77.84(n)    AL897334.2 
    zebrafish
    (Danio rerio)    		 Actinopterygii nok2 nagie oko 72.84(n)   252845  AF510111.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta sdt3 establishment and/or maintenance of
    epithelial more    		 50(a)
    (best of 2)    		     --
    worm
    (Caenorhabditis elegans)    		 Secernentea C01B7.43
    magu-21    		 guanylate kinase3
    Protein MAGU-21    		 41(a)3
    46.28(n)1
    36.41(a)1    		   V(8795611-8798133)3
    35657031  NM_072864.31  NP_505265.11 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons GK-16
    AT3G062006
    (see all 3)    		 guanylate kinase
    (see all 3)    		 18(a)
    17(a)
    (see all 3)    		 possible ortholog
    possible ortholog
    (see all 3)    		 2(17474619-17477223)
    3(1877594-1879348)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    		 guanylate kinase, putative, expressed
    		 18(a)
    18(a)
    		 possible ortholog
    possible ortholog
    		 3(11594171-11597778)
    12(20000190-20004313)
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria gmk6
    		 guanylate kinase
    		 27(a)
    		 possible ortholog
    		 Chromosome(3819451-3820074)


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

    Paralogs
    for MPP5 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MPP5 gene
    MPP62  MPP72  DLG32  DLG22  MPP22  MPP42  DLG42  DLG12  
    CASK2  MPP12  MPP32  
    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

    MPP5 for paralogs           About GeneDecksing



    Genomic Variants
    for MPP5 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1625 NCBI SNPs in MPP5 are shown (see all 1625)     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
    		--67706272(+) ATGTT-/ATATAT 2 -- us2k10--------
    rs1123238321,2
    		C,--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,--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 (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for MPP5
         2 CNVs: 101973 8772
         1 Indel: 11736

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    Disorders / Diseases
    for MPP5 gene

    (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.)
    About This Section
    MPP5 for disorders           About GeneDecksing

    OMIM gene information: 606958    OMIM disorders: --

    11 diseases for MPP5:    About MalaCards
    open-angle glaucoma    primary open angle glaucoma    leber congenital amaurosis    retinitis
    retinal degeneration    glaucoma    twinning    pneumonia
    tuberculosis    malaria    mycobacterium tuberculosis

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

    1 Novoseek 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

    Publications
    for MPP5 gene

    (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 MPP5 gene, integrated from 9 sources (see all 46):
    (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. (2002)
    2. MPP5 recruits MPP4 to the CRB1 complex in photoreceptors. (PubMed id 15914641)1, 2, 9 Kantardzhieva A.... Wijnholds J. (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. (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. (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. (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. (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. (2005)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (2004)
    10. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (2012)

    External Searches for MPP5 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing MPP5 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 64398 HGNC: 18669 AceView: MPP5 Ensembl:ENSG00000072415 euGenes: HUgn64398
    ECgene: MPP5 Kegg: 64398 H-InvDB: MPP5

    Other Databases showing MPP5 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing MPP5 gene

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

    Intellectual Property
    for MPP5 gene

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

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