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 in... See more...

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
  • MAGUK P55 Subfamily Member 4 3 4
  • Discs Large Homolog 6 3 4
  • ALS2CR5 3 4
  • DLG6 3 4
  • Membrane Protein, Palmitoylated 4 2

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 Strabismus and Visual Epilepsy. Among its related pathways are Tight junction. An important paralog of this gene is MPP7.

UniProtKB/Swiss-Prot Summary for MPP4 Gene

Additional gene information for MPP4 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification 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
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J201695 Promoter/Enhancer 1.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 500.7 +1.1 1133 6.6 JUND FOS REST GATA3 ZNF263 FOSL2 NR2F2 EZH2 GATA2 JUN MPP4 ALS2 RNU6-651P TMEM237 HSALNG0021572
GH02J201068 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 10.8 +627.8 627833 5.2 FOXK2 ZBTB40 ZNF217 CTCF ZSCAN5C SIN3A TCF12 POLR2G SP1 NCOR1 FAM126B NDUFB3 lnc-FAM126B-3 CFLAR-AS1 MPP4 ENSG00000273209 TMEM237 PPIL3 RPL23AP30 lnc-NDUFB3-1
GH02J200797 Enhancer 0.9 Ensembl ENCODE 11.1 +901.6 901633 1.6 NRF1 ZIC2 NR2F2 CEBPB CEBPG ZBTB33 JUND RXRA DPF2 MAX lnc-CLK1-6 MPP4 BICD1P1 piR-51137-064 BZW1-AS1
GH02J201985 Enhancer 0.9 Ensembl ENCODE CraniofacialAtlas 4.9 -286.3 -286267 3.8 CTCF SPI1 RAD21 SMARCA4 TEAD3 NR2F6 GATA3 MNT RBPJ FOS FZD7 RNU6-440P KIAA2012 MPP4 CASP10 lnc-ALS2-1 lnc-FZD7-2
GH02J201971 Enhancer 1 ENCODE CraniofacialAtlas dbSUPER 4.2 -273.9 -273897 2.3 JUND FOS TEAD4 HDAC2 POLR2A MAFF YY1 NANOG TCF12 ETS1 lnc-FZD7-2 RNU6-440P KIAA2012 KIAA2012-AS1 CDK15 MPP4 lnc-ALS2-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MPP4 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MPP4

Top Transcription factor binding sites by QIAGEN in the MPP4 gene promoter:
  • AML1a
  • FOXJ2
  • FOXJ2 (long isoform)
  • GATA-3
  • GR
  • GR-alpha
  • RP58
  • SRF
  • SRF (504 AA)
  • STAT3

Genomic Locations for MPP4 Gene

Genomic Locations for MPP4 Gene
chr2:201,644,870-201,698,834
(GRCh38/hg38)
Size:
53,965 bases
Orientation:
Minus strand
chr2:202,509,593-202,563,417
(GRCh37/hg19)
Size:
53,825 bases
Orientation:
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:
    Q96JB8-MPP4_HUMAN
    Recommended name:
    MAGUK p55 subfamily member 4
    Protein Accession:
    Q96JB8
    Secondary Accessions:
    • C9IZK4
    • Q53TT3
    • Q6ZNH6
    • Q96Q43
    • Q96Q44

    Protein attributes for MPP4 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for MPP4 Gene

Post-translational modifications for MPP4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MPP4 Gene

Domains & Families for MPP4 Gene

Gene Families for MPP4 Gene

Protein Domains for MPP4 Gene

Blocks:
  • SH3 domain signature
  • Variant SH3
  • PDZ/DHR/GLGF domain
  • L27 domain
  • Guanylate kinase
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MPP4 Gene

GenScript: Design optimal peptide antigens:
  • MPP4 protein (A2RU80_HUMAN)
  • MPP4 protein (B7ZM19_HUMAN)
  • Discs large homolog 6 (MPP4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96JB8

UniProtKB/Swiss-Prot:

MPP4_HUMAN :
  • Belongs to the MAGUK family.
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

CRISPR 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

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 MPP4 gene
Compartment Confidence
cytosol 5
cytoskeleton 4
nucleus 2
plasma membrane 1
extracellular 0
endoplasmic reticulum 0
golgi apparatus 0

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:0032991 protein-containing complex IDA 15914641
genes like me logo Genes that share ontologies with MPP4: view

Pathways & Interactions for MPP4 Gene

PathCards logo

SuperPathways 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

mRNA/cDNA for MPP4 Gene

1 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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
MPP4

Expression for MPP4 Gene

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



Protein tissue co-expression partners for MPP4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MPP4

SOURCE GeneReport for Unigene cluster for MPP4 Gene:

Hs.63085

mRNA Expression by UniProt/SwissProt for MPP4 Gene:

Q96JB8-MPP4_HUMAN
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
chimpanzee
(Pan troglodytes)
Mammalia MPP4 31 30
  • 98.95 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MPP4 31 30
  • 89.76 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MPP4 30
  • 88.18 (n)
rat
(Rattus norvegicus)
Mammalia Mpp4 30
  • 85.09 (n)
mouse
(Mus musculus)
Mammalia Mpp4 17 31 30
  • 84.51 (n)
oppossum
(Monodelphis domestica)
Mammalia MPP4 31
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves MPP4 31 30
  • 73.95 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 74 (a)
OneToMany
-- 31
  • 69 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia mpp4 30
  • 68.56 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC556594 30
  • 62.07 (n)
MPP4 (1 of 3) 31
  • 56 (a)
OneToMany
MPP4 (3 of 3) 31
  • 56 (a)
OneToMany
mpp4a 31
  • 51 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta metro 31
  • 37 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea magu-1 31
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 36 (a)
OneToMany
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

ENSEMBL:
Gene Tree for MPP4 (if available)
TreeFam:
Gene Tree for MPP4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MPP4: view image

Paralogs for MPP4 Gene

Paralogs for MPP4 Gene

(67) SIMAP similar genes for MPP4 Gene using alignment to 10 proteins:

  • MPP4_HUMAN
  • A2RU80_HUMAN
  • B7ZM19_HUMAN
  • E7ET46_HUMAN
  • E7EUL8_HUMAN
  • E9PG92_HUMAN
  • F6Q0Y6_HUMAN
  • F8WBH8_HUMAN
  • F8WDZ0_HUMAN
  • R4GN59_HUMAN
genes like me logo Genes that share paralogs with MPP4: view

Variants for MPP4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MPP4 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
729070 Likely Benign: not provided 201,681,004(-) GC/G FRAMESHIFT_VARIANT
rs1057519443 Pathogenic: High palate; Wide nasal bridge; Strabismus; Intellectual disability; Seizures; Global developmental delay; Generalized hypotonia 201,675,255(-) A/G MISSENSE_VARIANT
rs11894115 - p.Val562Ile
rs6725443 - p.Gly44Ser

Additional dbSNP identifiers (rs#s) for MPP4 Gene

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)
MPP4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MPP4

SNP Genotyping and Copy Number Assay Products

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

Disorders for MPP4 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
strabismus
  • strabismus, susceptibility to
visual epilepsy
  • epilepsy, visual
alacrima, achalasia, and mental retardation syndrome
  • aamr
retinitis pigmentosa
  • retinitis pigmentosa 1
- 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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 23 54
  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 23 54
  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 54
  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 41 54
  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 54

Products for MPP4 Gene

Sources for MPP4 Gene