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

MPP4 Gene

protein-coding   GIFtS: 52
GCID: GC02M202509

Membrane Protein, Palmitoylated 4 (MAGUK P55 Subfamily Member...


(Previous symbol: DLG6)
Microbiology & Infectious Diseases Congress
  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
Membrane Protein, Palmitoylated 4 (MAGUK P55 Subfamily Member 4)1 2     ALS2CR52 3
DLG61 2 3 5     Discs, Large Homolog 62
Amyotrophic Lateral Sclerosis 2 Chromosomal Region Candidate Gene 5
Protein2 3
     MAGUK P55 Subfamily Member 42
Discs Large Homolog 62 3     

External Ids:    HGNC: 136801   Entrez Gene: 585382   Ensembl: ENSG000000821267   OMIM: 6065755   UniProtKB: Q96JB83   

Export aliases for MPP4 gene to outside databases

Previous GC identifers: GC02M200726 GC02M201234 GC02M202473 GC02M202712 GC02M202335 GC02M202217 GC02M194357


(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 MPP4 Gene:
This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) protein family, with an N-terminal
PDZ domain, a central src homology 3 region (SH3), and a C-terminal guanylate kinase-like (GUK) domain. The
protein is localized to the outer limiting membrane in the retina, and is thought to function in photoreceptor
polarity and the organization of specialized intercellular junctions. Alternatively spliced transcript variants
have been described, but their biological validity has not been determined. (provided by RefSeq, Jul 2008)

GeneCards Summary for MPP4 Gene: 
MPP4 (membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)) is a protein-coding gene. Diseases associated with MPP4 include lateral sclerosis, and amyotrophic lateral sclerosis. An important paralog of this gene is MPP6.

UniProtKB/Swiss-Prot: MPP4_HUMAN, Q96JB8
Function: May play a role in retinal photoreceptors development (By similarity)




(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_000002.11  NT_005403.17  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MPP4 gene promoter:
         SRF   GR   RP58   GATA-3   AML1a   SRF (504 AA)   FOXJ2 (long isoform)   STAT3   GR-alpha   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMPP4 promoter sequence
   Search SABiosciences Chromatin IP Primers for MPP4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MPP4


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

Entrez Gene cytogenetic band: 2q33.2   Ensembl cytogenetic band:  2q33.1   HGNC cytogenetic band: 2q33.2

MPP4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MPP4 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M202509:  view genomic region     (about GC identifiers)

Start:
202,509,593 bp from pter      End:
202,563,417 bp from pter
Size:
53,825 bases      Orientation:
minus 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: MPP4_HUMAN, Q96JB8 (See protein sequence)
Recommended Name: MAGUK p55 subfamily member 4  
Size: 637 amino acids; 72779 Da
Subunit: Interacts with MPDZ. May interact with GRIA2 (By similarity). Forms a complex with CRB1 and MPP5.
Interacts with FASLG
Subcellular location: Cytoplasm. Note=Detected at the outer limiting membrane (OLM) and in the outer plexiform
layer (OPL) of the retina. At the OLM, detected apical to the adherens junction (AJ)
Secondary accessions: C9IZK4 Q53TT3 Q6ZNH6 Q96Q43 Q96Q44
Alternative splicing: 5 isoforms:  Q96JB8-1   Q96JB8-2   Q96JB8-3   Q96JB8-4   Q96JB8-5   

Explore the universe of human proteins at neXtProt for MPP4: NX_Q96JB8

Explore proteomics data for MPP4 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96JB8

  • MPP4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MPP4 Protein Expression
    REFSEQ proteins: NP_149055.1  
    ENSEMBL proteins: 
     ENSP00000387278   ENSP00000319363   ENSP00000380095   ENSP00000416781   ENSP00000387293  
     ENSP00000406160   ENSP00000386580   ENSP00000473500   ENSP00000353047  

    Human Recombinant Protein Products for MPP4: 
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    Novus Biologicals MPP4 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MPP4 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0042734presynaptic membrane IEA--

    MPP4 for ontologies           About GeneDecksing



    MPP4 Antibody Products: 
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    ThermoFisher Antibody for MPP4
    LSBio Antibodies in human, mouse, rat for MPP4 

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    Cloud-Clone Corp. ELISAs for MPP4 
    Cloud-Clone Corp. CLIAs for MPP4


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/8 InterPro protein domains (see all 8):
     IPR008144 Guanylate_kin
     IPR008145 Guanylate_kin/L-typ_Ca_channel
     IPR014775 L27_C
     IPR001452 SH3_domain
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry Q96JB8

    ProtoNet protein and cluster: Q96JB8

    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: MPP4_HUMAN, Q96JB8
    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


    MPP4 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: MPP4_HUMAN, Q96JB8
    Function: May play a role in retinal photoreceptors development (By similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    MPP4 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Mpp4):
     cellular  nervous system  vision/eye 

    MPP4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for MPP4: Mpp4tm1Tili Mpp4tm1Wij

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MPP4 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MPP4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MPP4 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MPP4 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MPP4
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate MPP4:
    hsa-miR-3143 hsa-miR-338-3p
    SwitchGear 3'UTR luciferase reporter plasmidMPP4 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of MPP4

    Clone
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    Browse Sino Biological Human cDNA Clones
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    Sirion Biotech Customized lentivirus for stable overexpression of MPP4 
                         Customized lentivirus expression plasmids for stable overexpression of MPP4 

    Cell Line
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    Search LifeMap BioReagents cell lines for MPP4
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MPP4


    (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:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MPP4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/13 Interacting proteins for MPP4 (Q96JB83 ENSP000003872784) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MPP5Q8N3R93, ENSP000002616814I2D: score=1 STRING: ENSP00000261681
    FASLGP480233, ENSP000003566944I2D: score=1 STRING: ENSP00000356694
    CXCR2P250253I2D: score=1 
    GRIA2P422623I2D: score=1 
    SF3A2ENSP000002214944STRING: ENSP00000221494
    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:0035418protein localization to synapse IEA--

    MPP4 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

    MPP4 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MPP4

    1 Novoseek inferred chemical compound relationship for MPP4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    guanylate 61.1 3 15914641 (1), 18955048 (1)

    Search CenterWatch for drugs/clinical trials and news about MPP4

    (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 MPP4 gene: 
    NM_033066.2  

    Unigene Cluster for MPP4:

    Membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)
    Hs.63085  [show with all ESTs]
    Unigene Representative Sequence: BX647162
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000409474(uc010ftj.3 uc010zhq.2 uc002uyk.4) ENST00000315506(uc010ftk.3)
    ENST00000396886(uc010zhs.2 uc002uyj.4) ENST00000428900(uc010zht.2 uc010zhr.2)
    ENST00000409143 ENST00000447335 ENST00000409818(uc002uyi.4 uc002uyl.4)
    ENST00000486212(uc002uym.1) ENST00000483841(uc002uyn.3) ENST00000602867
    ENST00000359962
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MPP4
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate MPP4:
    hsa-miR-3143 hsa-miR-338-3p
    SwitchGear 3'UTR luciferase reporter plasmidMPP4 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MPP4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MPP4
    Clone
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    OriGene ORF clones in mouse, rat for MPP4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MPP4 (NM_033066)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MPP4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MPP4
    Sirion Biotech Customized lentivirus for stable overexpression of MPP4 
                         Customized lentivirus expression plasmids for stable overexpression of MPP4 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for MPP4
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MPP4
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MPP4

    Additional mRNA sequence: 

    AB053302.1 AB053303.1 AB053304.1 AF316032.1 AK131208.1 AK298589.1 AK298947.1 AK300622.1 
    BC132785.1 BC144206.1 BX647162.1 BX648531.1 DQ426883.1 

    10 DOTS entries:

    DT.102830715  DT.100738383  DT.101967793  DT.100742379  DT.101973395  DT.121028097  DT.91912448  DT.307629 
    DT.95157344  DT.97824998 

    24/67 AceView cDNA sequences (see all 67):

    BQ001206 BX093612 AB053302 BQ188381 CK299856 BI868629 NM_033066 BX648531 
    CD634687 AF316032 BM999928 BX491120 AK131208 CB219611 AL712749 BX647162 
    AB053303 AL711768 BG202753 CD634692 AL711534 CK299855 AA015777 CB219734 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for MPP4    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20
    SP1:              -     -                                                                 -           -                                                   
    SP2:              -     -                             -     -                                                                                             
    SP3:                                                                                                  -                                                   
    SP4:                    -                                                                                                                                 
    SP5:                                                  -     -                                                                                             


    ECgene alternative splicing isoforms for MPP4

    (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

    MPP4 expression in normal human tissues (normalized intensities)      MPP4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATCTTTTTAA
    MPP4 Expression
    About this image


    MPP4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Eye (Sensory Organs)
             Mature Rod Cells Outer Nuclear Layer
     
     Peripheral Nervous System (Nervous System)
             Human Perineurial Cells (HPC)   
     
     Endothelium (Cardiovascular System)
             CD31, CD144 positive cells ( Two-step protocol for endothelial differentiation by...
     
     Brain (Nervous System)
             Cerebellum
     
     Uncategorized (Uncategorized)
             PureStem Progenitor ES-139

    See MPP4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MPP4

    SOURCE GeneReport for Unigene cluster: Hs.63085

    UniProtKB/Swiss-Prot: MPP4_HUMAN, Q96JB8
    Tissue specificity: Expressed in the retina (at protein level). Highly expressed in the retina. Lower amounts are
    detected in brain, testis, ARPE-19, RPE/choroid and fetal eye. Isoform 5 is retina-specific

        SABiosciences Custom PCR Arrays for MPP4
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MPP4
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MPP4

    (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 MPP4 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mpp41 , 5 membrane protein, palmitoylated 4 (MAGUK p55 subfamily more1, 5 84.51(n)1
    83.46(a)1
      1 (29.20 cM)5
    2271571  NM_001164682.11  NP_001158154.11 
     591209365 
    chicken
    (Gallus gallus)
    Aves MPP41 membrane protein, palmitoylated 4 (MAGUK p55 subfamily more 74.59(n)
    74.75(a)
      769757  XM_001233046.1  XP_001233047.1 
    lizard
    (Anolis carolinensis)
    Reptilia MPP46
    --
    Uncharacterized protein
    74(a)
    69(a)
    1 ↔ many
    1 ↔ many
    GL343478.1(162065-186972)
    GL344565.1(6101-23422)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5565941 MAGUK p55 subfamily member 4-like 62.03(n)
    59.08(a)
      556594  XM_679434.4  XP_684526.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta metro6
    menage a trois
    38(a)
    1 → many
    2R(7113962-7120056)


    ENSEMBL Gene Tree for MPP4 (if available)
    TreeFam Gene Tree for MPP4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MPP4 gene
    MPP62  MPP72  DLG32  MPP52  DLG22  MPP22  DLG42  DLG12  
    CASK2  MPP12  MPP32  
    18/66 SIMAP similar genes for MPP4 using alignment to 10 protein entries:     MPP4_HUMAN (see all proteins) (see all similar genes):
    C4orf22    CRCP    EIF3L    ZNF585B    FAM3A    DYM
    DCTN5    FAM210A    NSRP1    TMEM14B    UTY    ZNF20
    CERS5    CHID1    ZNF564    AEBP2    HKR1    LYRM4

    MPP4 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

    10/1142 SNPs in MPP4 are shown (see all 1142)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0226434
    ----see VAR_0226432 G S mis40--------
    rs113998021,2
    C--194357855(+) AAAAA-/ATTAAG 1 -- ut31 trp31Minor allele frequency- A:0.50CSA 2
    rs1112757451,2
    C--194359967(+) ACCGG-/AAAAAA 1 -- int11Minor allele frequency- A:0.00CSA 2
    rs2016263641,2
    C--194359967(+) ACCGGA/GAAAAA 1 -- int10--------
    rs1129367311,2
    C--194364803(+) AAACAAAAC/-  
            
    AAACA
    1 -- int11Minor allele frequency- -:0.00CSA 2
    rs134122561,2
    C--194379601(+) AAAATA/TAAAAA 1 -- int10--------
    rs724968871,2
    C--194383969(+) GAGGA-/GTTT  
            
    GTTTG
    1 -- int10--------
    rs1902194281,2
    --201898425(+) TTTCAA/CTCTTG 1 -- ds50010--------
    rs1404063061,2
    --201898450(+) TAGGTC/GTCTGG 1 -- ds50010--------
    rs1824865391,2
    --201898479(+) TTCTAA/GTTTAG 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for MPP4 (202509593 - 202563417 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for MPP4:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1003773CNV Deletion20482838
    esv2721366CNV Deletion23290073
    esv1285681CNV Deletion17803354
    esv2721365CNV Deletion23290073
    esv2370658CNV Deletion18987734
    nsv214937CNV Loss16902084
    nsv524548CNV Gain19592680
    nsv875709CNV Gain21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606575    OMIM disorders: --

    7 diseases for MPP4:    About MalaCards
    lateral sclerosis    amyotrophic lateral sclerosis    retinitis pigmentosa    choroiditis
    retinitis    pneumonia    tuberculosis


    MPP4 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for MPP4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinitis pigmentosa 62.1 2 12384283 (2)
    retinopathy 35 1 15914641 (1)

    Genetic Association Database (GAD): MPP4
    Human Genome Epidemiology (HuGE) Navigator: MPP4 (5 documents)

    Export disorders for MPP4 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 MPP4 gene, integrated from 9 sources (see all 23):
    (articles sorted by number of sources associating them with MPP4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of the human retina-specific gene MPP4, a novel member of the p55 subfamily of MAGUK proteins. (PubMed id 11414766)1, 2, 3 Stoehr H. and Weber B.H.F. (2001)
    2. MPP5 recruits MPP4 to the CRB1 complex in photoreceptors. (PubMed id 15914641)1, 2, 9 Kantardzhieva A.... Wijnholds J. (2005)
    3. Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa. (PubMed id 12384283)1, 2, 9 Conte I.... Ciccodicola A. (2002)
    4. 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)
    5. Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PubMed id 19807924)1, 2 Voss M....Janssen O. (2009)
    6. 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)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. (PubMed id 11586298)1, 2 Hadano S....Ikeda J.-E. (2001)
    9. Genome-wide association for smoking cessation success: participants in the Patch in Practice trial of nicotine replacement. (PubMed id 20235792)4 Uhl G.R....Munafo M.R. (2010)
    10. Mapping of transcription start sites of human retina expressed genes. (PubMed id 17286855)1 Roni V.... Wissinger B. (2007)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 58538 HGNC: 13680 AceView: MPP4 Ensembl:ENSG00000082126 euGenes: HUgn58538
    ECgene: MPP4 H-InvDB: MPP4

    (According to HUGE)
    About This Section
      --

    (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 MPP4 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MPP4

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MPP4 gene:
    Search GeneIP for patents involving MPP4

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



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