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Aliases for MPP4 Gene

Aliases for MPP4 Gene

  • Membrane Palmitoylated Protein 4 2 3 5
  • Amyotrophic Lateral Sclerosis 2 Chromosomal Region Candidate Gene 5 Protein 3 4
  • Membrane Protein, Palmitoylated 4 (MAGUK P55 Subfamily Member 4) 2 3
  • Discs Large Homolog 6 3 4
  • ALS2CR5 3 4
  • DLG6 3 4
  • Membrane Protein, Palmitoylated 4 2
  • MAGUK P55 Subfamily Member 4 3

External Ids for MPP4 Gene

Previous HGNC Symbols for MPP4 Gene

  • DLG6

Previous GeneCards Identifiers for MPP4 Gene

  • GC02M200726
  • GC02M201234
  • GC02M202473
  • GC02M202712
  • GC02M202335
  • GC02M202217
  • GC02M202509
  • GC02M194357

Summaries for MPP4 Gene

Entrez Gene Summary for MPP4 Gene

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

GeneCards Summary for MPP4 Gene

MPP4 (Membrane Palmitoylated Protein 4) is a Protein Coding gene. Diseases associated with MPP4 include Visual Epilepsy and Mechanical Strabismus. Among its related pathways are Tight junction. An important paralog of this gene is MPP7.

UniProtKB/Swiss-Prot for MPP4 Gene

  • May play a role in retinal photoreceptors development.

Additional gene information for MPP4 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MPP4 Gene

Genomics for MPP4 Gene

GeneHancer (GH) Regulatory Elements for MPP4 Gene

Promoters and enhancers for MPP4 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I201695 Promoter/Enhancer 1.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 550.8 +1.0 1024 5.4 SP1 GATA3 JUND POLR2A JUN FOSL2 FOS NR2F2 MPP4 ALS2 RNU6-651P TMEM237
GH02I201070 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.8 +627.0 627012 2.8 CLOCK ZFP64 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 SP3 FAM126B NDUFB3 ORC2 CLK1 CDK15 KCTD18 RNU6-762P CFLAR-AS1 MPP4 ENSG00000273209
GH02I201971 Enhancer 1 Ensembl ENCODE dbSUPER 4.2 -273.8 -273802 2.5 MAX SIN3A ETS1 SP1 JUND POLR2A CTBP2 POU5F1 FOS MAFK RNU6-440P KIAA2012 LOC729224 CDK15 MPP4 GC02P202013 GC02P201933
GH02I201651 Enhancer 0.7 Ensembl ENCODE 0.3 +44.7 44701 4.6 JUND POLR2A JUN RCOR1 FOS CHD2 ENO1P4 C2CD6 STRADB ALS2CR12 PPIL3 RNU6-651P MPP4
GH02I201680 Enhancer 0.5 ENCODE 0.4 +17.9 17891 0.1 CTCF CTBP1 TEAD1 ZNF143 RAD21 ZNF48 TEAD3 TMEM237 RNU6-651P MPP4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MPP4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MPP4 gene promoter:

Genomic Locations for MPP4 Gene

Genomic Locations for MPP4 Gene
53,965 bases
Minus strand

Genomic View for MPP4 Gene

Genes around MPP4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MPP4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MPP4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MPP4 Gene

Proteins for MPP4 Gene

  • Protein details for MPP4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    MAGUK p55 subfamily member 4
    Protein Accession:
    Secondary Accessions:
    • C9IZK4
    • Q53TT3
    • Q6ZNH6
    • Q96Q43
    • Q96Q44

    Protein attributes for MPP4 Gene

    637 amino acids
    Molecular mass:
    72779 Da
    Quaternary structure:
    • Interacts with MPDZ. May interact with GRIA2 (By similarity). Forms a complex with CRB1 and MPP5. Interacts with FASLG.

    Alternative splice isoforms for MPP4 Gene


neXtProt entry for MPP4 Gene

Post-translational modifications for MPP4 Gene

No Post-translational modifications

No data available for DME Specific Peptides for MPP4 Gene

Domains & Families for MPP4 Gene

Gene Families for MPP4 Gene

Suggested Antigen Peptide Sequences for MPP4 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the MAGUK family.
  • Belongs to the MAGUK family.
genes like me logo Genes that share domains with MPP4: view

Function for MPP4 Gene

Molecular function for MPP4 Gene

UniProtKB/Swiss-Prot Function:
May play a role in retinal photoreceptors development.

Phenotypes From GWAS Catalog for MPP4 Gene

Gene Ontology (GO) - Molecular Function for MPP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15914641
genes like me logo Genes that share ontologies with MPP4: view
genes like me logo Genes that share phenotypes with MPP4: view

Animal Models for MPP4 Gene

MGI Knock Outs for MPP4:

Animal Model Products

Clone Products

  • Addgene plasmids for MPP4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for MPP4 Gene

Localization for MPP4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MPP4 Gene

Cytoplasm. Note=Detected at the outer limiting membrane (OLM) and in the outer plexiform layer (OPL) of the retina. At the OLM, detected apical to the adherens junction (AJ).

Subcellular locations from

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 MPP4 gene
Compartment Confidence
cytosol 4
nucleus 3
extracellular 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Actin filaments (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MPP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
GO:0005913 cell-cell adherens junction IDA 15914641
GO:0015629 actin cytoskeleton IDA --
GO:0043234 protein complex IDA 15914641
genes like me logo Genes that share ontologies with MPP4: view

Pathways & Interactions for MPP4 Gene

SuperPathway Contained pathways
1 Tight junction
genes like me logo Genes that share pathways with MPP4: view

Pathways by source for MPP4 Gene

1 KEGG pathway for MPP4 Gene

Gene Ontology (GO) - Biological Process for MPP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0035418 protein localization to synapse ISM 15914641
genes like me logo Genes that share ontologies with MPP4: view

No data available for SIGNOR curated interactions for MPP4 Gene

Drugs & Compounds for MPP4 Gene

(1) Additional Compounds for MPP4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MPP4: view

Transcripts for MPP4 Gene

Unigene Clusters for MPP4 Gene

Membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4):
Representative Sequences:

Clone Products

  • Addgene plasmids for MPP4

Alternative Splicing Database (ASD) splice patterns (SP) for MPP4 Gene

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

Relevant External Links for MPP4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MPP4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MPP4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MPP4 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x6.5), Brain - Cerebellum (x6.0), and Spleen (x5.3).

Protein differential expression in normal tissues from HIPED for MPP4 Gene

This gene is overexpressed in Liver (41.6), Retina (16.3), and Heart (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MPP4 Gene

Protein tissue co-expression partners for MPP4 Gene

NURSA nuclear receptor signaling pathways regulating expression of MPP4 Gene:


SOURCE GeneReport for Unigene cluster for MPP4 Gene:


mRNA Expression by UniProt/SwissProt for MPP4 Gene:

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

Evidence on tissue expression from TISSUES for MPP4 Gene

  • Eye(4.3)
  • Nervous system(4)
genes like me logo Genes that share expression patterns with MPP4: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for MPP4 Gene

Orthologs for MPP4 Gene

This gene was present in the common ancestor of animals.

Orthologs for MPP4 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia MPP4 33 34
  • 98.95 (n)
(Canis familiaris)
Mammalia MPP4 33 34
  • 89.76 (n)
(Bos Taurus)
Mammalia MPP4 33
  • 88.18 (n)
(Rattus norvegicus)
Mammalia Mpp4 33
  • 85.09 (n)
(Mus musculus)
Mammalia Mpp4 33 16 34
  • 84.51 (n)
(Monodelphis domestica)
Mammalia MPP4 34
  • 82 (a)
(Gallus gallus)
Aves MPP4 33 34
  • 73.95 (n)
(Anolis carolinensis)
Reptilia -- 34
  • 74 (a)
-- 34
  • 69 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia mpp4 33
  • 68.56 (n)
(Danio rerio)
Actinopterygii LOC556594 33
  • 62.07 (n)
MPP4 (1 of 3) 34
  • 56 (a)
MPP4 (3 of 3) 34
  • 56 (a)
mpp4a 34
  • 51 (a)
fruit fly
(Drosophila melanogaster)
Insecta metro 34
  • 37 (a)
(Caenorhabditis elegans)
Secernentea magu-1 34
  • 28 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 36 (a)
Species where no ortholog for MPP4 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)

Evolution for MPP4 Gene

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

Paralogs for MPP4 Gene

Paralogs for MPP4 Gene

genes like me logo Genes that share paralogs with MPP4: view

Variants for MPP4 Gene

Sequence variations from dbSNP and Humsavar for MPP4 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1057519443 pathogenic, Generalized hypotonia, Global developmental delay, High palate, Intellectual disability, Seizures, Strabismus, Wide nasal bridge 201,675,255(-) A/G coding_sequence_variant, missense_variant
rs11300 likely-benign, ALS2-Related Spectrum Disorders, Amyotrophic Lateral Sclerosis, Recessive 201,700,847(-) C/T upstream_transcript_variant
rs141509107 likely-benign, Amyotrophic Lateral Sclerosis, Recessive, ALS2-Related Spectrum Disorders 201,701,746(-) T/G upstream_transcript_variant
rs144613080 likely-benign, Amyotrophic Lateral Sclerosis, Recessive, ALS2-Related Spectrum Disorders 201,701,472(-) A/T upstream_transcript_variant
rs190606035 uncertain-significance, Amyotrophic Lateral Sclerosis, Recessive, ALS2-Related Spectrum Disorders 201,701,867(-) C/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for MPP4 Gene

Variant ID Type Subtype PubMed ID
dgv7249n54 CNV loss 21841781
esv1003773 CNV deletion 20482838
esv1285681 CNV deletion 17803354
esv2370658 CNV deletion 18987734
esv2721365 CNV deletion 23290073
esv2721366 CNV deletion 23290073
esv3584274 CNV loss 25503493
nsv1138884 CNV deletion 24896259
nsv214937 CNV deletion 16902084
nsv524548 CNV gain 19592680

Variation tolerance for MPP4 Gene

Residual Variation Intolerance Score: 41% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.68; 86.46% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MPP4 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MPP4 Gene

Disorders for MPP4 Gene

MalaCards: The human disease database

(6) MalaCards diseases for MPP4 Gene - From: ClinVar, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
visual epilepsy
  • epilepsy, visual
mechanical strabismus
  • strabismus
alacrima, achalasia, and mental retardation syndrome
  • aamr
  • strabismus, susceptibility to
seizure disorder
  • epilepsy
- elite association - COSMIC cancer census association via MalaCards
Search MPP4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MPP4

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MPP4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MPP4 Gene

Publications for MPP4 Gene

  1. MPP5 recruits MPP4 to the CRB1 complex in photoreceptors. (PMID: 15914641) Kantardzhieva A … Wijnholds J (Investigative ophthalmology & visual science 2005) 3 4 22 58
  2. Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa. (PMID: 12384283) Conte I … Ciccodicola A (Gene 2002) 3 4 22 58
  3. Cloning and characterization of the human retina-specific gene MPP4, a novel member of the p55 subfamily of MAGUK proteins. (PMID: 11414766) Stöhr H … Weber BH (Genomics 2001) 2 3 4 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PMID: 19807924) Voss M … Janssen O (BMC immunology 2009) 3 4 58

Products for MPP4 Gene

Sources for MPP4 Gene

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