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Aliases for MPP2 Gene

Aliases for MPP2 Gene

  • Membrane Palmitoylated Protein 2 2 3 5
  • Membrane Protein, Palmitoylated 2 (MAGUK P55 Subfamily Member 2) 2 3
  • MAGUK P55 Subfamily Member 2 2 3
  • Discs Large, Homolog 2 2 3
  • DLG2 3 4
  • Membrane Protein, Palmitoylated 2 2
  • Discs Large Homolog 2 4
  • Protein MPP2 4

External Ids for MPP2 Gene

Previous HGNC Symbols for MPP2 Gene

  • DLG2

Previous GeneCards Identifiers for MPP2 Gene

  • GC17M041694
  • GC17M044129
  • GC17M041963
  • GC17M042427
  • GC17M039308
  • GC17M037716
  • GC17M041952

Summaries for MPP2 Gene

Entrez Gene Summary for MPP2 Gene

  • Palmitoylated membrane protein 2 is a member of a family of membrane-associated proteins termed MAGUKs (membrane-associated guanylate kinase homologs). MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intracellular junctions. Palmitoylated membrane protein 2 contains a conserved sequence, called the SH3 (src homology 3) motif, found in several other proteins that associate with the cytoskeleton and are suspected to play important roles in signal transduction. [provided by RefSeq, Jul 2008]

GeneCards Summary for MPP2 Gene

MPP2 (Membrane Palmitoylated Protein 2) is a Protein Coding gene. Diseases associated with MPP2 include Danon Disease and Tetanus. Gene Ontology (GO) annotations related to this gene include PDZ domain binding and guanylate kinase activity. An important paralog of this gene is MPP6.

UniProtKB/Swiss-Prot for MPP2 Gene

  • Postsynaptic MAGUK scaffold protein that links CADM1 cell adhesion molecules to core components of the postsynaptic density (By similarity). In CA1 pyramidal neurons, required for synaptic KCNN2-containing channel function and long-term potentiation expression (By similarity). Seems to negatively regulate SRC function in epithelial cells (PubMed:19665017).

Gene Wiki entry for MPP2 Gene

Additional gene information for MPP2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MPP2 Gene

Genomics for MPP2 Gene

GeneHancer (GH) Regulatory Elements for MPP2 Gene

Promoters and enhancers for MPP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I043905 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 587.3 +2.6 2627 3.1 PKNOX1 SIN3A ZNF2 ZNF121 ZNF766 GLIS2 ZNF143 KLF7 KLF13 SP3 MPP2 ENSG00000267340 DHX8 TMUB2 HMGN1P29 ENSG00000267002 ASB16-AS1 C17orf53 LINC00910 NBR2
GH17I043900 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 554.6 +9.0 9023 1.2 PKNOX1 ATF1 KLF17 SIN3A MZF1 THRB RFX5 ZNF335 GLIS2 FOS MPP2 PPY TMEM101 ENSG00000221044 GC17P043880
GH17I043901 Promoter 0.8 EPDnew 550.4 +8.1 8140 0.1 RFX1 ZBTB48 PRDM10 BMI1 ZBTB17 MPP2 PPY ENSG00000221044 GC17P043880
GH17I043910 Enhancer 0.6 ENCODE 565.3 -0.7 -657 0.2 CTCF ZNF654 TRIM22 ZEB2 IRF4 RAD21 ATF4 ZNF580 SMC3 ZNF143 MPP2 FAM215A GC17P043880
GH17I043909 Promoter 0.5 EPDnew 565.4 +0.0 24 0.1 MPP2 GC17P043880
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MPP2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MPP2 gene promoter:

Genomic Locations for MPP2 Gene

Genomic Locations for MPP2 Gene
chr17:43,875,357-43,909,711
(GRCh38/hg38)
Size:
34,355 bases
Orientation:
Minus strand
chr17:41,952,725-41,987,068
(GRCh37/hg19)

Genomic View for MPP2 Gene

Genes around MPP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MPP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MPP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MPP2 Gene

Proteins for MPP2 Gene

  • Protein details for MPP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14168-MPP2_HUMAN
    Recommended name:
    MAGUK p55 subfamily member 2
    Protein Accession:
    Q14168
    Secondary Accessions:
    • B4DGE9
    • B4DRJ0
    • B7Z3G8
    • E7EV80
    • E7EV91
    • E7EX01
    • Q53ES9
    • Q5CZB9
    • Q9BQJ2

    Protein attributes for MPP2 Gene

    Size:
    576 amino acids
    Molecular mass:
    64581 Da
    Quaternary structure:
    • Can homomultimerise. Interacts with CACNG2. Interacts (via the SH3-Guanylate kinase-like sub-module) with DLG4/PSD95 and DLGAP1/GKAP. Interacts (via the PDZ domain) with CADM1 (via C-terminus) (By similarity). Interacts with KCNN2/SK2 (via N-terminal domain) (By similarity). Interacts with SRC (PubMed:19665017).

    Three dimensional structures from OCA and Proteopedia for MPP2 Gene

    Alternative splice isoforms for MPP2 Gene

neXtProt entry for MPP2 Gene

Post-translational modifications for MPP2 Gene

No data available for DME Specific Peptides for MPP2 Gene

Domains & Families for MPP2 Gene

Gene Families for MPP2 Gene

Graphical View of Domain Structure for InterPro Entry

Q14168

UniProtKB/Swiss-Prot:

MPP2_HUMAN :
  • Belongs to the MAGUK family.
Family:
  • Belongs to the MAGUK family.
genes like me logo Genes that share domains with MPP2: view

Function for MPP2 Gene

Molecular function for MPP2 Gene

GENATLAS Biochemistry:
membrane protein,palmitoylated 2,55kDa,involved in coupling the cytoskeleton to the cell membrane,tumor suppressor
UniProtKB/Swiss-Prot Function:
Postsynaptic MAGUK scaffold protein that links CADM1 cell adhesion molecules to core components of the postsynaptic density (By similarity). In CA1 pyramidal neurons, required for synaptic KCNN2-containing channel function and long-term potentiation expression (By similarity). Seems to negatively regulate SRC function in epithelial cells (PubMed:19665017).

Phenotypes From GWAS Catalog for MPP2 Gene

Gene Ontology (GO) - Molecular Function for MPP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004385 guanylate kinase activity TAS 7590743
GO:0005515 protein binding IPI 19665017
GO:0030165 PDZ domain binding IEA --
GO:0044325 ion channel binding IEA --
genes like me logo Genes that share ontologies with MPP2: view
genes like me logo Genes that share phenotypes with MPP2: view

Animal Model Products

miRNA for MPP2 Gene

miRTarBase miRNAs that target MPP2

Clone Products

  • Addgene plasmids for MPP2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MPP2 Gene

Localization for MPP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MPP2 Gene

Cytoplasm, cytoskeleton. Membrane. Cell projection, dendrite. Cell projection, dendritic spine membrane. Note=Prominently expressed in the post-synaptic densities of dendritic spines, is also detected in dendritic shafts. {ECO:0000250 UniProtKB:Q9WV34}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MPP2 gene
Compartment Confidence
cytoskeleton 5
plasma membrane 4
cytosol 4
nucleus 3
mitochondrion 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Mitochondria (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MPP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA,IDA 19665017
GO:0005886 plasma membrane IEA --
GO:0005887 integral component of plasma membrane TAS 7590743
GO:0014069 postsynaptic density ISS,IEA --
genes like me logo Genes that share ontologies with MPP2: view

Pathways & Interactions for MPP2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MPP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction TAS 7590743
GO:0046037 GMP metabolic process IEA --
GO:0046710 GDP metabolic process IEA --
GO:0051260 protein homooligomerization IEA,ISS --
GO:0060079 excitatory postsynaptic potential ISS,IEA --
genes like me logo Genes that share ontologies with MPP2: view

No data available for Pathways by source and SIGNOR curated interactions for MPP2 Gene

Drugs & Compounds for MPP2 Gene

(4) Drugs for MPP2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for MPP2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MPP2: view

Transcripts for MPP2 Gene

Unigene Clusters for MPP2 Gene

Membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2):
Representative Sequences:

Clone Products

  • Addgene plasmids for MPP2

Alternative Splicing Database (ASD) splice patterns (SP) for MPP2 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^
SP1: - - - -
SP2: - - - - -
SP3: - -
SP4: - - - - - -
SP5: - - -
SP6: - - - -
SP7: - - -
SP8: - - - - - -

ExUns: 17
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for MPP2 Gene

GeneLoc Exon Structure for
MPP2
ECgene alternative splicing isoforms for
MPP2

Expression for MPP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MPP2 Gene

Protein differential expression in normal tissues from HIPED for MPP2 Gene

This gene is overexpressed in Retina (35.9), Brain (10.7), and Fetal Brain (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MPP2 Gene



Protein tissue co-expression partners for MPP2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MPP2 Gene:

MPP2

SOURCE GeneReport for Unigene cluster for MPP2 Gene:

Hs.514208

Evidence on tissue expression from TISSUES for MPP2 Gene

  • Nervous system(5)
genes like me logo Genes that share expression patterns with MPP2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MPP2 Gene

Orthologs for MPP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for MPP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MPP2 33 34
  • 98.99 (n)
cow
(Bos Taurus)
Mammalia MPP2 33 34
  • 92.57 (n)
dog
(Canis familiaris)
Mammalia MPP2 33 34
  • 91.18 (n)
mouse
(Mus musculus)
Mammalia Mpp2 33 16 34
  • 89.67 (n)
rat
(Rattus norvegicus)
Mammalia Mpp2 33
  • 89.01 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MPP2 34
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MPP2 34
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves MPP2 33 34
  • 78.8 (n)
lizard
(Anolis carolinensis)
Reptilia MPP2 34
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mpp2 33
  • 69.8 (n)
zebrafish
(Danio rerio)
Actinopterygii mpp2b 33 34
  • 70.64 (n)
mpp2a 34
  • 63 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta skf 35
  • 39 (a)
CG9326 35
  • 38 (a)
vari 34
  • 36 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y55B1BR.4 35
  • 27 (a)
Species where no ortholog for MPP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)

Evolution for MPP2 Gene

ENSEMBL:
Gene Tree for MPP2 (if available)
TreeFam:
Gene Tree for MPP2 (if available)

Paralogs for MPP2 Gene

Variants for MPP2 Gene

Sequence variations from dbSNP and Humsavar for MPP2 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000274304 -- 43,883,918(-) A/G intron_variant
rs1000391860 -- 43,897,994(-) C/T intron_variant
rs1000548294 -- 43,905,046(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000596673 -- 43,882,684(-) G/C intron_variant
rs1000838242 -- 43,902,357(-) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for MPP2 Gene

Variant ID Type Subtype PubMed ID
nsv953901 CNV deletion 24416366
nsv953900 CNV deletion 24416366
nsv1146669 OTHER inversion 26484159
esv3640640 CNV gain 21293372
esv3640639 CNV gain 21293372
esv2715959 CNV deletion 23290073
esv26094 CNV gain 19812545

Variation tolerance for MPP2 Gene

Residual Variation Intolerance Score: 13.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.78; 33.63% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MPP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MPP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MPP2 Gene

Disorders for MPP2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MPP2 Gene - From: Novoseek and GeneCards

Disorder Aliases PubMed IDs
danon disease
  • vacuolar cardiomyopathy and myopathy, x-linked
tetanus
  • clostridial tetanus
- elite association - COSMIC cancer census association via MalaCards
Search MPP2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MPP2

genes like me logo Genes that share disorders with MPP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MPP2 Gene

Publications for MPP2 Gene

  1. A gene (DLG2) located at 17q12-q21 encodes a new homologue of the Drosophila tumor suppressor dIg-A. (PMID: 7590743) Mazoyer S … Ponder BA (Genomics 1995) 2 3 4 22 58
  2. The PDZ protein MPP2 interacts with c-Src in epithelial cells. (PMID: 19665017) Baumgartner M … Moelling K (Experimental cell research 2009) 3 4 22 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for MPP2 Gene

Sources for MPP2 Gene

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