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MPDZ Gene

protein-coding   GIFtS: 64
GCID: GC09M013095

Multiple PDZ Domain Protein

  See MPDZ-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Multiple PDZ Domain Protein1 2
MUPP12 3 5
Multi-PDZ Domain Protein 12 3
HYC22 5

External Ids:    HGNC: 72081   Entrez Gene: 87772   Ensembl: ENSG000001071867   OMIM: 6037855   UniProtKB: O759703   

Export aliases for MPDZ gene to outside databases

Previous GC identifers: GC09M013272 GC09M013086 GC09M013096


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for MPDZ Gene:
MPDZ (multiple PDZ domain protein) is a protein-coding gene. Diseases associated with MPDZ include hydrocephalus, nonsyndromic, autosomal recessive 2, and congenital communicating hydrocephalus. GO annotations related to this gene include protein C-terminus binding. An important paralog of this gene is PARD3B.

UniProtKB/Swiss-Prot: MPDZ_HUMAN, O75970
Function: Interacts with HTR2C and provokes its clustering at the cell surface (By similarity). Member of the
NMDAR signaling complex that may play a role in control of AMPAR potentiation and synaptic plasticity in
excitatory synapses

Gene Wiki entry for MPDZ 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_000009.11  NT_008413.19  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MPDZ gene promoter:
         Sox5   p300   FOXD1   MIF-1   CUTL1   E4BP4   GATA-1   S8   Sox9   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for MPDZ

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


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

Entrez Gene cytogenetic band: 9p23   Ensembl cytogenetic band:  9p23   HGNC cytogenetic band: 9p23

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

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M013095:  view genomic region     (about GC identifiers)

Start:
13,105,703 bp from pter      End:
13,279,589 bp from pter
Size:
173,887 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., 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: MPDZ_HUMAN, O75970 (See protein sequence)
Recommended Name: Multiple PDZ domain protein  
Size: 2070 amino acids; 221618 Da
Subunit: Interacts with CLDN5, DLG4, GRIN1, F11R/JAM, CLDN1, NG2, CRB1, MPP4 and MPP5 (By similarity). Interacts
with HTR2A, HTR2B, HTR2C, PLEKHA1/TAPP1, PLEKHA2/TAPP2, CXADR, SYNGAP1, CAMK2A and CAMK2B. Interacts with the
adenovirus type 9 E4-ORF1 protein
Sequence caution: Sequence=AAC61870.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing;
Sequence=BAC05409.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAE06123.1;
Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAH71900.1; Type=Erroneous gene
model prediction; Sequence=CAI40490.1; Type=Erroneous gene model prediction; Sequence=CAI40491.1; Type=Erroneous
gene model prediction; Sequence=CAI40492.1; Type=Erroneous gene model prediction; Sequence=CAI40494.1;
Type=Erroneous gene model prediction; Sequence=CAI40495.1; Type=Erroneous gene model prediction;
Sequence=CAI41236.1; Type=Erroneous gene model prediction; Sequence=CAI41237.1; Type=Erroneous gene model
prediction; Sequence=CAI41238.1; Type=Erroneous gene model prediction; Sequence=CAI41240.1; Type=Erroneous gene
model prediction; Sequence=CAI56786.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing;
Selected PDB 3D structures from and Proteopedia for MPDZ (see all 9):
2FCF (3D)        2FNE (3D)        2IWN (3D)        2IWO (3D)        2IWP (3D)        2IWQ (3D)    
Secondary accessions: A6NLC2 B2RTS3 B7ZMI4 O43798 Q4LE30 Q5CZ80 Q5JTX3 Q5JTX6 Q5JTX7 Q5JUC3
Q5JUC4 Q5VZ62 Q8N790
Alternative splicing: 4 isoforms:  O75970-1   O75970-2   O75970-3   O75970-5   

Explore the universe of human proteins at neXtProt for MPDZ: NX_O75970

Explore proteomics data for MPDZ at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys741
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (3 alternative transcripts): 
    NP_001248335.1  NP_001248336.1  NP_003820.2  

    ENSEMBL proteins: 
     ENSP00000320006   ENSP00000439807   ENSP00000415964   ENSP00000444230   ENSP00000444717  
     ENSP00000444151   ENSP00000415208   ENSP00000437651   ENSP00000446358   ENSP00000406902  
     ENSP00000446298   ENSP00000389705   ENSP00000443672   ENSP00000441111   ENSP00000370410  
     ENSP00000370403   ENSP00000445259  

    MPDZ Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for MPDZ
    GenScript Custom Purified and Recombinant Proteins Services for MPDZ
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MPDZ

     
    Search eBioscience for Proteins for MPDZ 

     
    Search antibodies-online for proteins for MPDZ 

     
    antibodies-online peptides for MPDZ

    MPDZ Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Novus Biologicals MPDZ Antibodies
    Search for Antibodies for MPDZ at Abcam
    Cloud-Clone Corp. Antibodies for MPDZ
    Search ThermoFisher Antibodies for MPDZ
    antibodies-online antibodies for MPDZ (21 products) 

    MPDZ Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MPDZ
    Cloud-Clone Corp. CLIAs for MPDZ
    Search eBioscience for ELISAs for MPDZ 
    antibodies-online kits for MPDZ (6 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR015132 L27_2
     IPR001478 PDZ
     IPR004172 L27

    Graphical View of Domain Structure for InterPro Entry O75970

    ProtoNet protein and cluster: O75970

    1 Blocks protein domain: IPB001478 PDZ/DHR/GLGF domain

    UniProtKB/Swiss-Prot: MPDZ_HUMAN, O75970
    Domain: The PDZ domain 1 binds NG2. The PDZ domains 7 and 10 bind the Ad9 E4-ORF1 oncoprotein. The PDZ domain 9
    binds F11R. The PDZ domain 10 binds the C-terminus of CLDN1 and KIT and the C-terminal PDZ-binding motif of
    HTR2C. The PDZ domain 13 binds CXADR (By similarity). The PDZ domain 2 binds CAMK2A and CAMK2B. The PDZ domains
    10 and 13 bind PLEKHA1 and PLEKHA2. The PDZ domain 13 binds SYNGAP1
    Similarity: Contains 1 L27 domain
    Similarity: Contains 13 PDZ (DHR) domains


    Find genes that share domains with MPDZ           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: MPDZ_HUMAN, O75970
    Function: Interacts with HTR2C and provokes its clustering at the cell surface (By similarity). Member of the
    NMDAR signaling complex that may play a role in control of AMPAR potentiation and synaptic plasticity in
    excitatory synapses

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11802782
    GO:0008022protein C-terminus binding IPI11802782
         
    Find genes that share ontologies with MPDZ           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for MPDZ:
     Synthetic lethal with Ras 

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target MPDZ:
    hsa-mir-335-5p (MIRT018749), hsa-mir-26b-5p (MIRT030077)

    Block miRNA regulation of human, mouse, rat MPDZ using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MPDZ (see all 20):
    hsa-miR-3164 hsa-miR-520d-5p hsa-miR-106a hsa-miR-93 hsa-miR-526b* hsa-miR-3941 hsa-miR-3182 hsa-miR-17
    SwitchGear 3'UTR luciferase reporter plasmidMPDZ 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MPDZ
    Predesigned siRNA for gene silencing in human, mouse, rat MPDZ

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MPDZ

    Clone
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    OriGene clones in human, mouse for MPDZ (see all 5)
    OriGene ORF clones in mouse, rat for MPDZ
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MPDZ (NM_003829)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MPDZ
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MPDZ
    Addgene plasmids for MPDZ 

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for MPDZ 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MPDZ


    (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
    MPDZ_HUMAN, O75970: Cell membrane; Peripheral membrane protein; Cytoplasmic side. Apical cell membrane;
    Peripheral membrane protein; Cytoplasmic side. Cell junction, synapse, postsynaptic cell membrane, postsynaptic
    density. Cell projection, dendrite. Cell junction, tight junction. Cell junction, synapse. Cell junction,
    synapse, synaptosome. Note=Associated with membranes. Colocalizes with HTR2C on the apical membrane of epithelial
    choroid plexus cells. Highly enriched in postsynaptic densities (PSD). Localized to punctae on dendrites of
    hippocampal neurons and colocalizes with the synaptic marker DLG4. Localized mainly in the Schmidt-Lanterman
    incisures of myelinating Schwann cells (By similarity). In the retina, localizes to the sub-apical region
    adjacent to the adherens junction complex at the outer limiting membrane. Enriched at the tight junctions of
    epithelial cells. Association to the tight junctions depends on CXADR
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    plasma membrane5
    cytosol3
    nucleus2

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA15364909
    GO:0005923tight junction IEA--
    GO:0014069postsynaptic density IEA--
    GO:0016324apical plasma membrane IEA--
    GO:0016327apicolateral plasma membrane IDA15364909

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

    SuperPathContained pathways About
    1Kit Receptor Signaling Pathway
    Kit Receptor Signaling Pathway0.37
    2Sertoli-Sertoli Cell Junction Dynamics
    Epithelial Tight Junctions0.36
    3Cell adhesion Integrin mediated cell adhesion and migration
    Cell adhesion Tight junctions0.33
    4Tight junction
    Tight junction


    Find genes that share SuperPaths with MPDZ           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    1 GeneGo (Thomson Reuters) Pathway for MPDZ
        Cell adhesion Tight junctions

    1 BioSystems Pathway for MPDZ
        Kit Receptor Signaling Pathway


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

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

    Interactions:

        GeneGlobe Interaction Network for MPDZ

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

    Selected Interacting proteins for MPDZ (O759701, 2, 3 ENSP000003704104) via UniProtKB, MINT, STRING, and/or I2D (see all 192)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    OR2AG1Q9H2051, 2, 3, ENSP000003074474EBI-821405,EBI-7590304 MINT-7289933 MINT-7290250 MINT-7289999 MINT-7289954 MINT-7290110 MINT-7289978 MINT-7290063 MINT-7290305 I2D: score=1 STRING: ENSP00000307447
    PLEKHA1Q9HB211, 2, 3, ENSP000003579864EBI-821405,EBI-2652984 MINT-1773801 MINT-1773642 MINT-1773697 MINT-1773820 MINT-65962 MINT-1773562 MINT-1773724 I2D: score=3 STRING: ENSP00000357986
    HTR2CP283352, 3, ENSP000002761984MINT-73153 MINT-73189 I2D: score=4 STRING: ENSP00000276198
    TP53P046371, 2EBI-821405,EBI-366083 MINT-8415632 MINT-8415643 MINT-8415512
    OR3A1P478812, 3, ENSP000003138034MINT-7290219 I2D: score=1 STRING: ENSP00000313803
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion IEA--
    GO:0016032viral process IEA--
    GO:0019048modulation by virus of host morphology or physiology ----
    GO:0042552myelination IEA--

    Find genes that share ontologies with MPDZ           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MPDZ



    (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 MPDZ gene (3 alternative transcripts): 
    NM_001261406.1  NM_001261407.1  NM_003829.4  

    Unigene Cluster for MPDZ:

    Multiple PDZ domain protein
    Hs.169378  [show with all ESTs]
    Unigene Representative Sequence: NM_003829
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000319217(uc003zky.4 uc010mib.3 uc010mhx.3 uc011lmm.2 uc003zkz.4 uc010mhy.3 uc010mhz.3 uc011lmn.2 uc010mia.1 uc003zlb.4)
    ENST00000381017(uc003zkx.4) ENST00000541718 ENST00000539508 ENST00000438511
    ENST00000319198 ENST00000545857 ENST00000538841 ENST00000536827 ENST00000447879
    ENST00000542806 ENST00000546205 ENST00000437441 ENST00000535169 ENST00000540202
    ENST00000433359 ENST00000542239 ENST00000494251
    miRNA
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    Block miRNA regulation of human, mouse, rat MPDZ using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MPDZ (see all 20):
    hsa-miR-3164 hsa-miR-520d-5p hsa-miR-106a hsa-miR-93 hsa-miR-526b* hsa-miR-3941 hsa-miR-3182 hsa-miR-17
    SwitchGear 3'UTR luciferase reporter plasmidMPDZ 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for MPDZ
    Predesigned siRNA for gene silencing in human, mouse, rat MPDZ
    Clone
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    OriGene clones in human, mouse for MPDZ (see all 5)
    OriGene ORF clones in mouse, rat for MPDZ
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MPDZ (NM_003829)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MPDZ
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MPDZ
    Addgene plasmids for MPDZ 
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    OriGene qSTAR qPCR primer pairs in human, mouse for MPDZ
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MPDZ
      QuantiTect SYBR Green Assays in human, mouse, rat MPDZ
      QuantiFast Probe-based Assays in human, mouse, rat MPDZ

    Additional mRNA sequence: 

    AB210041.1 AJ001319.1 AK058011.1 AK074721.1 AK091945.1 AK098775.1 AK294823.1 AK294976.1 
    AK307924.1 AK307988.1 AK316489.1 BC140793.1 BC144564.1 

    12 DOTS entries:

    DT.100783776  DT.100783775  DT.454664  DT.92430721  DT.95162657  DT.97841187  DT.97781585  DT.100882918 
    DT.121165928  DT.426392  DT.99938236  DT.92430716 

    Selected AceView cDNA sequences (see all 145):

    BQ876382 T31442 AA127886 AF093419 AA132116 AI750090 F08545 AW088844 
    NM_003829 AW160606 AW163661 BX955899 BX492831 AW161163 AW958106 BQ894457 
    BF445592 AI055851 Z44852 AL694097 BQ214757 AX747271 CD243744 BX415479 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MPDZ (see all 15)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21a · 21b ^ 22a · 22b ^
    SP1:                                                                                                                          -                       -     -   
    SP2:                                                                                                                          -                       -     -   
    SP3:                                                                                                                                                  -     -   
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 23a · 23b ^ 24a · 24b ^ 25a · 25b ^ 26 ^ 27a · 27b ^ 28a · 28b ^ 29a · 29b · 29c · 29d ^ 30 ^ 31 ^ 32 ^ 33a · 33b · 33c ^ 34 ^ 35a · 35b ^ 36 ^ 37a ·
    SP1:                                                                                      -                                                                     
    SP2:                                                                                      -                                                                     
    SP3:  -     -     -     -     -     -     -     -     -                                   -                                                                     
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 37b ^ 38 ^ 39a · 39b · 39c ^ 40a · 40b · 40c ^ 41a · 41b ^ 42a · 42b ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^ 48
    SP1:              -                 -                       -     -                                             
    SP2:              -                 -                 -     -                                                   
    SP3:              -                 -                                                                           
    SP4:        -     -                 -                                                                           
    SP5:                                                  -     -                       -                           


    ECgene alternative splicing isoforms for MPDZ

    (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)
    About This Section

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


    MPDZ expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Telencephalon
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Neurons
             nGnG Amacrine Cells Inner Nuclear Layer
     
     Eye (Sensory Organs)
             nGnG Amacrine Cells Inner Nuclear Layer
     
     Brain (Nervous System)
             Hypothalamus
    MPDZ Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MPDZ Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.169378

    UniProtKB/Swiss-Prot: MPDZ_HUMAN, O75970
    Tissue specificity: Expressed in heart, brain, placenta, liver, skeletal muscle, kidney and pancreas

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

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MPDZ

    (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 MPDZ gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mpdz1 , 5 multiple PDZ domain protein1, 5 83.51(n)1
    84.91(a)1
      4 (38.00 cM)5
    174751  NM_010820.21  NP_034950.21 
     812785055 
    chicken
    (Gallus gallus)
    Aves MPDZ1 multiple PDZ domain protein 73.32(n)
    72.85(a)
      427360  NM_001256123.1  NP_001243052.1 
    lizard
    (Anolis carolinensis)
    Reptilia MPDZ6
    multiple PDZ domain protein
    68(a)
    1 ↔ 1
    2(33660950-33778848)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.13782 Xenopus laevis transcribed sequence with moderate similarity more 79.69(n)    BJ041435.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkey-92j12.51 si:dkey-92j12.5 54.76(n)
    49.1(a)
      560912  XM_684312.4  XP_689404.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta dlt3 establishment and/or maintenance of
    polarity of more
    49(a)   62B4   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MPDZ gene
    PARD3B2  IL162  PDZD22  INADL2  LNX22  PARD32  LNX12  
    12 SIMAP similar genes for MPDZ using alignment to 11 protein entries:     MPDZ_HUMAN (see all proteins):
    SYNJ2BP    PARD3B    IL16    DLG4    LIN7C    LIN7A
    SCRIB    INADL    TJP2    ARHGAP23    DLG2    GRIP1

    Find genes that share paralogs with MPDZ           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 MPDZ (see all 3915)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1428374361,2
    --13105205(+) TATCAA/TTTTAC 3 -- int10--------
    rs734043721,2
    C,F--13105210(+) TTTTAC/TAGATA 3 -- int12Minor allele frequency- T:0.06WA 120
    rs734043741,2
    C,F--13105226(+) AATGAG/CAGGGA 3 -- int13Minor allele frequency- C:0.05WA CSA 122
    rs1924712271,2
    --13105301(+) CAGTGA/TTCAAG 3 -- int10--------
    rs1474284701,2
    --13105348(+) ATTATG/TATTTT 3 -- int10--------
    rs1834284401,2
    --13105372(+) CACTTG/TAATAG 3 -- int10--------
    rs1392046251,2
    C--13105451(+) GGCAGC/GATACT 3 -- int10--------
    rs727063491,2
    C,F--13105528(+) ATTGTG/AGAGGT 3 -- int12Minor allele frequency- A:0.16NA 122
    rs1874793501,2
    --13105540(+) AAAAAC/TATTAA 3 -- int10--------
    rs1498659401,2
    --13105594(+) ATGGAC/TACCAT 3 -- int10--------

    HapMap Linkage Disequilibrium report for MPDZ (13105703 - 13279589 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for MPDZ (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2738214CNV Deletion23290073
    esv2422212CNV Duplication17116639
    esv1002340CNV Insertion20482838
    nsv518837CNV Loss19592680
    nsv892582CNV Loss21882294
    nsv892584CNV Loss21882294
    nsv528464CNV Loss19592680
    nsv892581CNV Gain21882294
    dgv8105n71CNV Gain21882294
    nsv892583CNV Gain21882294

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

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 603785   
    OMIM disorders: 615219  
    UniProtKB/Swiss-Prot: MPDZ_HUMAN, O75970
  • Hydrocephalus, non-syndromic, autosomal recessive 2 (HYC2) [MIM:615219]: A disease characterized by a
    disturbance of cerebrospinal fluid circulation causing accumulation of ventricular cerebrospinal fluid, which
    results in progressive ventricular dilatation with onset in utero. Affected individuals may have neurologic
    impairment. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 3 diseases for MPDZ:    
    About MalaCards
    hydrocephalus, nonsyndromic, autosomal recessive 2    congenital communicating hydrocephalus    hydrocephalus

    1 disease from the University of Copenhagen DISEASES database for MPDZ:
    Leber congenital amaurosis

    Find genes that share disorders with MPDZ           About GenesLikeMe

    Genetic Association Database (GAD): MPDZ
    Human Genome Epidemiology (HuGE) Navigator: MPDZ (10 documents)

    Export disorders for MPDZ 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 MPDZ gene, integrated from 10 sources (see all 64):
    (articles sorted by number of sources associating them with MPDZ)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Evidence that the tandem-pleckstrin-homology-domain-containing protein TAPP1 interacts with Ptd(3,4)P2 and the multi-PDZ-domain- containing protein MUPP1 in vivo. (PubMed id 11802782)1, 2, 9 Kimber W.A....Alessi D.R. (Biochem. J. 2002)
    2. Cloning and characterization of MUPP1, a novel PDZ domain protein. (PubMed id 9537516)1, 2, 9 Ullmer C.... Luebbert H. (FEBS Lett. 1998)
    3. Crumbs homologue 1 is required for maintenance of photoreceptor cell polarization and adhesion during light exposure. (PubMed id 15316081)1, 2, 9 van de Pavert S.A.... Wijnholds J. (J. Cell Sci. 2004)
    4. SynGAP-MUPP1-CaMKII synaptic complexes regulate p38 MAP kinase activity and NMDA receptor-dependent synaptic AMPA receptor potentiation. (PubMed id 15312654)1, 2, 9 Krapivinsky G.... Clapham D.E. (Neuron 2004)
    5. Mutation in MPDZ causes severe congenital hydrocephalus. (PubMed id 23240096)1, 2 Al-Dosari M.S....Alkuraya F.S. (J. Med. Genet. 2013)
    6. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    7. Sequence variations of the human MPDZ gene and association with alcoholism in subjects with European ancestry. (PubMed id 19175764)1, 4 Karpyak V.M....Choi D.S. (Alcohol. Clin. Exp. Res. 2009)
    8. Genetical genomic determinants of alcohol consumption in rats and humans. (PubMed id 19874574)1, 4 Tabakoff B....Hoffman P.L. (BMC Biol. 2009)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 8777 HGNC: 7208 AceView: MPDZ Ensembl:ENSG00000107186 euGenes: HUgn8777
    ECgene: MPDZ Kegg: 8777 H-InvDB: MPDZ

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for MPDZ Pharmacogenomics, SNPs, Pathways

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

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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