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Aliases for MPDZ Gene

Aliases for MPDZ Gene

  • Multiple PDZ Domain Protein 2 3
  • MUPP1 3 4 6
  • Multi-PDZ Domain Protein 1 3 4
  • HYC2 3 6

External Ids for MPDZ Gene

Previous GeneCards Identifiers for MPDZ Gene

  • GC09M013272
  • GC09M013086
  • GC09M013096

Summaries for MPDZ Gene

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. Among its related pathways are Kit Receptor Signaling Pathway and Sertoli-Sertoli Cell Junction Dynamics. GO annotations related to this gene include protein C-terminus binding. An important paralog of this gene is PARD3B.

UniProtKB/Swiss-Prot for MPDZ Gene

  • 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

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MPDZ Gene

Genomics for MPDZ Gene

Regulatory Elements for MPDZ Gene

Genomic Location for MPDZ Gene

Start:
13,105,701 bp from pter
End:
13,279,663 bp from pter
Size:
173,963 bases
Orientation:
Minus strand

Genomic View for MPDZ Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MPDZ Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MPDZ Gene

Proteins for MPDZ Gene

  • Protein details for MPDZ Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75970-MPDZ_HUMAN
    Recommended name:
    Multiple PDZ domain protein
    Protein Accession:
    O75970
    Secondary Accessions:
    • A6NLC2
    • B2RTS3
    • B7ZMI4
    • O43798
    • Q4LE30
    • Q5CZ80
    • Q5JTX3
    • Q5JTX6
    • Q5JTX7
    • Q5JUC3
    • Q5JUC4
    • Q5VZ62
    • Q8N790

    Protein attributes for MPDZ Gene

    Size:
    2070 amino acids
    Molecular mass:
    221618 Da
    Quaternary structure:
    • 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 FAT4 (via cytoplasmic domain) (By similarity). Interacts with the adenovirus type 9 E4-ORF1 protein.
    SequenceCaution:
    • Sequence=AAC61870.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305}; Sequence=BAC05409.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAE06123.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAH71900.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI40490.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI40491.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI40492.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI40494.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI40495.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI41236.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI41237.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI41238.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI41240.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI56786.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MPDZ Gene

    Alternative splice isoforms for MPDZ Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MPDZ Gene

Proteomics data for MPDZ Gene at MOPED

Post-translational modifications for MPDZ Gene

  • Ubiquitination at Lys741
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MPDZ Gene

Domains for MPDZ Gene

Protein Domains for MPDZ Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

O75970

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.
  • Contains 1 L27 domain.
  • Contains 13 PDZ (DHR) domains.
genes like me logo Genes that share domains with MPDZ: view

No data available for Gene Families for MPDZ Gene

Function for MPDZ Gene

Molecular function for MPDZ Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for MPDZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11802782
GO:0008022 protein C-terminus binding IPI 11802782
genes like me logo Genes that share ontologies with MPDZ: view

Phenotypes for MPDZ Gene

GenomeRNAi human phenotypes for MPDZ:
genes like me logo Genes that share phenotypes with MPDZ: view

Animal Model Products

miRNA for MPDZ Gene

miRTarBase miRNAs that target MPDZ

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MPDZ

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for MPDZ Gene

Localization for MPDZ Gene

Subcellular locations from UniProtKB/Swiss-Prot for MPDZ Gene

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. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MPDZ Gene COMPARTMENTS Subcellular localization image for MPDZ gene
Compartment Confidence
cytoskeleton 5
plasma membrane 5
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for MPDZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 15364909
GO:0005923 bicellular tight junction IEA --
GO:0014069 postsynaptic density IEA --
GO:0016324 apical plasma membrane IEA --
GO:0016327 apicolateral plasma membrane IDA 15364909
genes like me logo Genes that share ontologies with MPDZ: view

Pathways for MPDZ Gene

genes like me logo Genes that share pathways with MPDZ: view

Pathways by source for MPDZ Gene

1 Qiagen pathway for MPDZ Gene
1 BioSystems pathway for MPDZ Gene
1 KEGG pathway for MPDZ Gene
1 GeneGo (Thomson Reuters) pathway for MPDZ Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for MPDZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0016032 viral process IEA --
GO:0042552 myelination IEA --
genes like me logo Genes that share ontologies with MPDZ: view

Transcripts for MPDZ Gene

Unigene Clusters for MPDZ Gene

Multiple PDZ domain protein:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MPDZ

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MPDZ Gene

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:
SP6:
SP7:
SP8:
SP9:
SP10: - -
SP11:
SP12:
SP13:
SP14:
SP15:

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:
SP6: - - - -
SP7: - -
SP8:
SP9:
SP10: - - -
SP11: -
SP12: - - -
SP13: - -
SP14: - - -
SP15:

ExUns: 37b ^ 38 ^ 39a · 39b · 39c ^ 40a · 40b · 40c ^ 41a · 41b ^ 42a · 42b ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^ 48
SP1: - - - -
SP2: - - - -
SP3: - -
SP4: - - -
SP5: - - -
SP6:
SP7:
SP8: - -
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15: -

Relevant External Links for MPDZ Gene

GeneLoc Exon Structure for
MPDZ
ECgene alternative splicing isoforms for
MPDZ

Expression for MPDZ Gene

mRNA expression in normal human tissues for MPDZ Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for MPDZ Gene

This gene is overexpressed in Urine (28.8), Pancreatic juice (10.6), and Lung (9.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MPDZ Gene

SOURCE GeneReport for Unigene cluster for MPDZ Gene Hs.169378

mRNA Expression by UniProt/SwissProt for MPDZ Gene

O75970-MPDZ_HUMAN
Tissue specificity: Expressed in heart, brain, placenta, liver, skeletal muscle, kidney and pancreas.
genes like me logo Genes that share expressions with MPDZ: view

Expression partners for MPDZ Gene

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for MPDZ Gene

Orthologs for MPDZ Gene

This gene was present in the common ancestor of animals.

Orthologs for MPDZ Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MPDZ 35
  • 88.95 (n)
  • 90.28 (a)
MPDZ 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MPDZ 35
  • 90.23 (n)
  • 91.55 (a)
MPDZ 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mpdz 35
  • 83.51 (n)
  • 84.91 (a)
Mpdz 16
Mpdz 36
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MPDZ 35
  • 99.57 (n)
  • 99.51 (a)
MPDZ 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mpdz 35
  • 83.89 (n)
  • 85.84 (a)
oppossum
(Monodelphis domestica)
Mammalia MPDZ 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MPDZ 36
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves MPDZ 35
  • 73.32 (n)
  • 72.85 (a)
MPDZ 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MPDZ 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mpdz 35
  • 68.41 (n)
  • 70.59 (a)
Str.10353 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.1378 35
zebrafish
(Danio rerio)
Actinopterygii si:dkey-92j12.5 35
  • 54.76 (n)
  • 49.1 (a)
fruit fly
(Drosophila melanogaster)
Insecta dlt 37
  • 49 (a)
a 36
  • 17 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9159 35
Species with no ortholog for MPDZ:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MPDZ Gene

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

Paralogs for MPDZ Gene

Paralogs for MPDZ Gene

genes like me logo Genes that share paralogs with MPDZ: view

Variants for MPDZ Gene

Sequence variations from dbSNP and Humsavar for MPDZ Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs722651 -- 13,106,336(-) AAATA(C/T)ATGAA utr-variant-3-prime
rs967278 -- 13,269,325(+) CTCTA(G/T)AAAAC intron-variant
rs974286 -- 13,127,980(-) CCCAC(C/T)GTACC intron-variant
rs985801 -- 13,225,509(+) ACCTA(C/T)AGTAA intron-variant
rs986481 -- 13,254,379(-) ATAAC(G/T)ATTTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MPDZ Gene

Variant ID Type Subtype PubMed ID
esv2422212 CNV Duplication 17116639
dgv8105n71 CNV Gain 21882294
nsv892578 CNV Gain 21882294
nsv892580 CNV Gain 21882294
nsv892581 CNV Gain 21882294
nsv892582 CNV Loss 21882294
nsv528464 CNV Loss 19592680
nsv518837 CNV Loss 19592680
esv2738214 CNV Deletion 23290073
nsv892583 CNV Gain 21882294
nsv892584 CNV Loss 21882294
esv1002340 CNV Insertion 20482838

Relevant External Links for MPDZ Gene

HapMap Linkage Disequilibrium report
MPDZ
Human Gene Mutation Database (HGMD)
MPDZ

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MPDZ Gene

Disorders for MPDZ Gene

(1) OMIM Diseases for MPDZ Gene (603785)

UniProtKB/Swiss-Prot

MPDZ_HUMAN
  • 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. {ECO:0000269 PubMed:23240096}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for MPDZ Gene

Relevant External Links for MPDZ

Genetic Association Database (GAD)
MPDZ
Human Genome Epidemiology (HuGE) Navigator
MPDZ
genes like me logo Genes that share disorders with MPDZ: view

No data available for Novoseek inferred disease relationships and Genatlas for MPDZ Gene

Publications for MPDZ Gene

  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. (PMID: 11802782) Kimber W.A. … Alessi D.R. (Biochem. J. 2002) 3 4 23
  2. Cloning and characterization of MUPP1, a novel PDZ domain protein. (PMID: 9537516) Ullmer C. … Luebbert H. (FEBS Lett. 1998) 3 4 23
  3. SynGAP-MUPP1-CaMKII synaptic complexes regulate p38 MAP kinase activity and NMDA receptor-dependent synaptic AMPA receptor potentiation. (PMID: 15312654) Krapivinsky G. … Clapham D.E. (Neuron 2004) 3 4 23
  4. Crumbs homologue 1 is required for maintenance of photoreceptor cell polarization and adhesion during light exposure. (PMID: 15316081) van de Pavert S.A. … Wijnholds J. (J. Cell Sci. 2004) 3 4 23
  5. The multi PDZ domain protein MUPP1 as a putative scaffolding protein for organizing signaling complexes in the acrosome of mammalian spermatozoa. (PMID: 16452527) Heydecke D. … Boekhoff I. (J. Androl. 2006) 3 23

Products for MPDZ Gene

Sources for MPDZ Gene

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