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

MPDZ Gene

protein-coding   GIFtS: 64
GCID: GC09M013095

Multiple PDZ Domain Protein

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
Multiple PDZ Domain Protein1 2
MUPP12 3 5
Multi-PDZ Domain Protein 12 3
HYC22

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

GeneCards Summary for MPDZ Gene: 
MPDZ (multiple PDZ domain protein) is a protein-coding gene. Diseases associated with MPDZ include congenital communicating hydrocephalus, and leber congenital amaurosis, and among its related super-pathways are Signaling events mediated by Stem cell factor receptor (c-Kit) and Sertoli-Sertoli Cell Junction Dynamics. GO annotations related to this gene include protein binding and 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NT_008413.18  NC_018920.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for MPDZ

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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
Subcellular location: 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
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;
6/9 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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O75970

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

    MPDZ Protein Expression
    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  

    Human Recombinant Protein Products for MPDZ: 
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    OriGene Custom MassSpec 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MPDZ 

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (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

    MPDZ for ontologies           About GeneDecksing



    MPDZ Antibody Products: 
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    Novus Biologicals MPDZ Antibodies
    Abcam antibodies for MPDZ
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    Search ThermoFisher Antibodies for MPDZ
    LSBio Antibodies in human, mouse, rat for MPDZ 

    Assay Products for MPDZ: 
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    Cloud-Clone Corp. ELISAs for MPDZ 
    Cloud-Clone Corp. CLIAs for MPDZ


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    MPDZ 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: 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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11802782
    GO:0008022protein C-terminus binding IPI11802782
         
    MPDZ for ontologies           About GeneDecksing


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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for MPDZ 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MPDZ

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

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    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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    Gene Editing
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    Clone
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MPDZ


    (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

    SuperPaths for MPDZ About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Signaling events mediated by Stem cell factor receptor (c-Kit)
    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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for MPDZ
        Cell adhesion Tight junctions

    1 Downloadable PowerPoint Slide of QIAGEN 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


    MPDZ for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MPDZ

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

    5/137 Interacting proteins for MPDZ (O759702, 3 ENSP000003704104) via UniProtKB, MINT, STRING, and/or I2D (see all 137)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    OR2AG1Q9H2052, 3, ENSP000003074474MINT-7289933 MINT-7290250 MINT-7289999 MINT-7289954 MINT-7290110 MINT-7289978 MINT-7290063 MINT-7290305 I2D: score=1 STRING: ENSP00000307447
    PLEKHA1Q9HB212, 3, ENSP000003579864MINT-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
    OR3A1P478812, 3, ENSP000003138034MINT-7290219 I2D: score=1 STRING: ENSP00000313803
    RNF5Q999423, ENSP000003642354I2D: score=1 STRING: ENSP00000364235
    About this table

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

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

    MPDZ for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MPDZ

    Search CenterWatch for drugs/clinical trials and news about 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,
    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 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
    18/21 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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    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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    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 

    24/145 AceView cDNA sequences (see all 145):

    AK091945 BQ876382 T31442 AA127886 AF093419 AA132116 AI750090 F08545 
    AW088844 NM_003829 AW160606 AW163661 BX955899 BX492831 AW161163 AW958106 
    BQ894457 BF445592 AI055851 Z44852 AL694097 BQ214757 AX747271 CD243744 

    GeneLoc Exon Structure

    5/15 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™, 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

    MPDZ expression in normal human tissues (normalized intensities)      MPDZ embryonic expression: see
    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 
     5/4 selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Hypothalamus
             brain/midbrain   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Telencephalon
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Eye (Sensory Organs)
             nGnG Amacrine Cells Inner Nuclear Layer

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

    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

        SABiosciences Expression via Pathway-Focused 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for MPDZ gene from 6/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mpdz1 , 5 multiple PDZ domain protein1, 5 83.57(n)1
    84.74(a)1
      4 (38.00 cM)5
    174751  NM_010820.21  NP_034950.21 
     812785055 
    chicken
    (Gallus gallus)
    Aves MPDZ1 multiple PDZ domain protein 73.03(n)
    72.5(a)
      427360  XM_003643004.1  XP_003643052.1 
    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 
    fruit fly
    (Drosophila melanogaster)
    Insecta dlt3 establishment and/or maintenance of
    polarity of more
    49(a)   62B4   --
    worm
    (Caenorhabditis elegans)
    Secernentea mpz-16
    Protein MPZ-1, isoform d
    20(a)
    1 → many
    II(10738986-10775061)


    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)
    About This Section
    Paralogs for MPDZ gene
    PARD3B2  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

    MPDZ 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

    10/3915 SNPs in MPDZ are shown (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) 10/12 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
    SABiosciences Cancer Mutation PCR Assays
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    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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603785    OMIM disorders: --

    9 diseases for MPDZ:    About MalaCards
    congenital communicating hydrocephalus    leber congenital amaurosis    alcohol dependence    choroiditis
    alcoholism    schizophrenia    pancreatitis    breast cancer
    neuronitis

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

    MPDZ for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for MPDZ gene, integrated from 9 sources (see all 59):
    (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. (2002)
    2. Cloning and characterization of MUPP1, a novel PDZ domain protein. (PubMed id 9537516)1, 2, 9 Ullmer C.... Luebbert H. (1998)
    3. 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. (2004)
    4. 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. (2004)
    5. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    6. Genetical genomic determinants of alcohol consumption in rats and humans. (PubMed id 19874574)1, 4 Tabakoff B....Hoffman P.L. (2009)
    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. (2009)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    9. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
    10. The coxsackievirus and adenovirus receptor interacts with the multi- PDZ domain protein-1 (MUPP-1) within the tight junction. (PubMed id 15364909)1, 2 Coyne C.B.... Bergelson J.M. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 8777 HGNC: 7208 AceView: MPDZ Ensembl:ENSG00000107186 euGenes: HUgn8777
    ECgene: MPDZ Kegg: 8777 H-InvDB: MPDZ

    (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 MPDZ Pharmacogenomics, SNPs, Pathways

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



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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