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Aliases for MPP4 Gene

Aliases for MPP4 Gene

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

External Ids for MPP4 Gene

Previous Symbols for MPP4 Gene

  • DLG6

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 Protein, Palmitoylated 4 (MAGUK P55 Subfamily Member 4)) is a Protein Coding gene. Diseases associated with MPP4 include lateral sclerosis and retinitis pigmentosa. An important paralog of this gene is MPP6.

UniProtKB/Swiss-Prot for MPP4 Gene

  • May play a role in retinal photoreceptors development.

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

Genomics for MPP4 Gene

Genomic Location for MPP4 Gene

Start:
201,644,870 bp from pter
End:
201,698,694 bp from pter
Size:
53,825 bases
Orientation:
Minus strand

Genomic View for MPP4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MPP4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MPP4 Gene

Regulatory Elements 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

Proteomics data for MPP4 Gene at MOPED

Post-translational modifications for MPP4 Gene

No Post-translational modifications

No data available for DME Specific Peptides for MPP4 Gene

Domains for MPP4 Gene

Suggested Antigen Peptide Sequences for MPP4 Gene

Graphical View of Domain Structure for InterPro Entry

Q96JB8

UniProtKB/Swiss-Prot:

MPP4_HUMAN
Domain:
  • Contains 1 guanylate kinase-like domain.:
    • Q96JB8
  • Contains 2 L27 domains.:
    • Q96JB8
  • Contains 1 PDZ (DHR) domain.:
    • Q96JB8
  • Contains 1 SH3 domain.:
    • Q96JB8
Family:
  • Belongs to the MAGUK family.:
    • Q96JB8
genes like me logo Genes that share domains with MPP4: view

No data available for Gene Families for MPP4 Gene

Function for MPP4 Gene

Molecular function for MPP4 Gene

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

Gene Ontology (GO) - Molecular Function for MPP4 Gene

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

Phenotypes for MPP4 Gene

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

Animal Models for MPP4 Gene

MGI Knock Outs for MPP4:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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
Jensen Localization Image for MPP4 Gene COMPARTMENTS Subcellular localization image for MPP4 gene
Compartment Confidence
cytosol 3
nucleus 2
endoplasmic reticulum 1
extracellular 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for MPP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0042734 presynaptic membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with MPP4: view

Pathways for MPP4 Gene

SuperPathways for MPP4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MPP4 Gene

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

No data available for Pathways by source for MPP4 Gene

Compounds for MPP4 Gene

(1) Novoseek inferred chemical compound relationships for MPP4 Gene

Compound -log(P) Hits PubMed IDs
guanylate 61.1 2
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:

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
ECgene alternative splicing isoforms for
MPP4

Expression for MPP4 Gene

mRNA expression in normal human tissues 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 (6.5), Brain - Cerebellum (6.0), and Spleen (5.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for MPP4 Gene

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.
genes like me logo Genes that share expressions with MPP4: view

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 35
  • 98.95 (n)
  • 98.43 (a)
MPP4 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MPP4 35
  • 88.18 (n)
  • 84.55 (a)
dog
(Canis familiaris)
Mammalia MPP4 35
  • 89.76 (n)
  • 89.97 (a)
MPP4 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mpp4 35
  • 84.51 (n)
  • 83.46 (a)
Mpp4 16
Mpp4 36
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MPP4 36
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mpp4 35
  • 85.09 (n)
  • 83.15 (a)
chicken
(Gallus gallus)
Aves MPP4 35
  • 73.95 (n)
  • 73.21 (a)
MPP4 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 74 (a)
OneToMany
-- 36
  • 69 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia mpp4 35
  • 68.56 (n)
  • 64.39 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC556594 35
  • 62.07 (n)
  • 60.3 (a)
MPP4 (1 of 3) 36
  • 56 (a)
OneToMany
MPP4 (3 of 3) 36
  • 56 (a)
OneToMany
mpp4a 36
  • 51 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta metro 36
  • 37 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea magu-1 36
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 36 (a)
OneToMany
Species with no ortholog for MPP4:
  • 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)

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 Sequence Context AA Info Type MAF
rs720218 -- 201,695,555(+) GTTGT(C/T)ATCAA intron-variant
rs720219 -- 201,695,614(+) GGCCA(A/G)GGGAG intron-variant
rs720220 -- 201,695,628(+) GAGTA(C/T)TTACA intron-variant
rs725324 -- 201,670,473(+) TGGAC(C/T)TAGAT intron-variant
rs725325 -- 201,670,188(+) ATAAC(A/T)TTTTA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv875709 CNV Gain 21882294
esv2721365 CNV Deletion 23290073
esv2721366 CNV Deletion 23290073
esv2370658 CNV Deletion 18987734
nsv214937 CNV Loss 16902084
esv1003773 CNV Deletion 20482838
esv1285681 CNV Deletion 17803354
nsv524548 CNV Gain 19592680

Relevant External Links for MPP4 Gene

HapMap Linkage Disequilibrium report
MPP4

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

Disorders for MPP4 Gene

(2) Novoseek inferred disease relationships for MPP4 Gene

Disease -log(P) Hits PubMed IDs
retinitis pigmentosa 62.1 2
retinopathy 35 1

Relevant External Links for MPP4

Genetic Association Database (GAD)
MPP4
Human Genome Epidemiology (HuGE) Navigator
MPP4
genes like me logo Genes that share disorders with MPP4: view

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

Publications for MPP4 Gene

  1. MPP5 recruits MPP4 to the CRB1 complex in photoreceptors. (PMID: 15914641) Kantardzhieva A. … Wijnholds J. (Invest. Ophthalmol. Vis. Sci. 2005) 3 4 23
  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
  3. Cloning and characterization of the human retina-specific gene MPP4, a novel member of the p55 subfamily of MAGUK proteins. (PMID: 11414766) Stoehr H. … Weber B.H.F. (Genomics 2001) 2 3 4
  4. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. (PMID: 11586298) Hadano S. … Ikeda J.-E. (Nat. Genet. 2001) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for MPP4 Gene

  • Addgene plasmids for MPP4

Sources for MPP4 Gene

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