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    MPP4 MAGUK p55 scaffold protein 4 [ Homo sapiens (human) ]

    Gene ID: 58538, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MPP4provided by HGNC
    Official Full Name
    MAGUK p55 scaffold protein 4provided by HGNC
    Primary source
    HGNC:HGNC:13680
    See related
    Ensembl:ENSG00000082126 MIM:606575; AllianceGenome:HGNC:13680
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DLG6; ALS2CR5
    Summary
    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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See MPP4 in Genome Data Viewer
    Location:
    2q33.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (201644874..201698644, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (202125526..202180790, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (202509597..202563367, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene C2 calcium dependent domain containing 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12233 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:202427174-202427863 Neighboring gene MT-ND5 pseudogene 31 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12234 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12235 Neighboring gene transmembrane protein 237 Neighboring gene enolase 1 pseudogene 4 Neighboring gene RNA, U6 small nuclear 651, pseudogene Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:202563997-202564498 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:202564499-202564998 Neighboring gene alsin Rho guanine nucleotide exchange factor ALS2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12236 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16992 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16993 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16994 Neighboring gene ribosomal protein S2 pseudogene 16 Neighboring gene MPRA-validated peak4013 silencer Neighboring gene UBE2V1 pseudogene 11 Neighboring gene cyclin dependent kinase 15

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Cloning and characterization of the human retina-specific gene MPP4, a novel member of the p55 subfamily of MAGUK proteins. Stöhr H, et al. Genomics, 2001 Jun 15. PMID 11414766
    2. Investigation of correlations between DNA methylation, suicidal behavior and aging. Jeremian R, et al. Bipolar Disord, 2017 Feb. PMID 28276657
    3. Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa. Conte I, et al. Gene, 2002 Sep 4. PMID 12384283
    4. Membrane-associated guanylate kinase proteins MPP4 and MPP5 associate with Veli3 at distinct intercellular junctions of the neurosensory retina. Stöhr H, et al. J Comp Neurol, 2005 Jan 3. PMID 15558731
    5. MPP5 recruits MPP4 to the CRB1 complex in photoreceptors. Kantardzhieva A, et al. Invest Ophthalmol Vis Sci, 2005 Jun. PMID 15914641

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Bipolar disorder participants with a history of Suicidal behavior showed less overall methylation in the 5' untranslated region of Membrane palmitoylated protein 4 .
      Title: Investigation of correlations between DNA methylation, suicidal behavior and aging.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. MPP4 gene is highly expressed in retina, but no mutations were identified in a panel of 300 unrelated patients with retinitis pigmentosa.
      Title: Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein localization to synapse ISM
    Inferred from Sequence Model
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in adherens junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in adherens junction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    MAGUK p55 subfamily member 4
    Names
    amyotrophic lateral sclerosis 2 chromosomal region candidate gene 5 protein
    discs large homolog 6
    membrane palmitoylated protein 4
    membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012654.2 RefSeqGene

      Range
      5000..58770
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_033066.3 → NP_149055.2  MAGUK p55 subfamily member 4

      Status: REVIEWED

      Source sequence(s)
      AC007279
      Consensus CDS
      CCDS46491.1
      UniProtKB/Swiss-Prot
      C9IZK4, Q53TT3, Q6ZNH6, Q96JB8, Q96Q43, Q96Q44
      UniProtKB/TrEMBL
      E7EUL8, F8WDZ0
      Related
      ENSP00000387278.3, ENST00000409474.8
      Conserved Domains (4) summary
      smart00569
      Location:90 → 140
      L27; domain in receptor targeting proteins Lin-2 and Lin-7
      cd12034
      Location:246 → 306
      SH3_MPP4; Src Homology 3 domain of Membrane Protein, Palmitoylated 4 (or MAGUK p55 subfamily member 4)
      cd00992
      Location:153 → 232
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cl27059
      Location:428 → 618
      Guanylate_kin; Guanylate kinase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      201644874..201698644 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017004620.2 → XP_016860109.1  MAGUK p55 subfamily member 4 isoform X1

      UniProtKB/TrEMBL
      A0A087WUS1, B7ZM19
      Related
      ENSP00000478875.1, ENST00000620095.4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      202125526..202180790 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343248.1 → XP_054199223.1  MAGUK p55 subfamily member 4 isoform X1

      UniProtKB/TrEMBL
      B7ZM19
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96JB8.2 GenPept UniProtKB/Swiss-Prot:Q96JB8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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