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    MTMR4 myotubularin related protein 4 [ Homo sapiens (human) ]

    Gene ID: 9110, updated on 15-Jun-2019

    Summary

    Official Symbol
    MTMR4provided by HGNC
    Official Full Name
    myotubularin related protein 4provided by HGNC
    Primary source
    HGNC:HGNC:7452
    See related
    Ensembl:ENSG00000108389 MIM:603559
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ZFYVE11; FYVE-DSP2
    Expression
    Ubiquitous expression in testis (RPKM 12.1), brain (RPKM 10.5) and 25 other tissues See more
    Orthologs

    Genomic context

    See MTMR4 in Genome Data Viewer
    Location:
    17q22
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (58489532..58518109, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (56566893..56595271, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene TSPOAP1, SUPT4H1 and RNF43 antisense RNA 1 Neighboring gene ring finger protein 43 Neighboring gene heat shock transcription factor 5 Neighboring gene SET pseudogene 3 Neighboring gene SEPT4 antisense RNA 1 Neighboring gene septin 4 Neighboring gene septin 4

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Genome-wide association scan for childhood caries implicates novel genes.
    NHGRI GWA Catalog
    Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) study.
    NHGRI GWA Catalog

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA0647

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein phosphatase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein serine/threonine phosphatase activity TAS
    Traceable Author Statement
    more info
     
    protein tyrosine phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    early endosome membrane TAS
    Traceable Author Statement
    more info
     
    endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular space HDA PubMed 

    General protein information

    Preferred Names
    myotubularin-related protein 4
    Names
    FYVE domain-containing dual specificity protein phosphatase 2
    zinc finger FYVE domain-containing protein 11
    zinc finger, FYVE domain containing 11
    NP_004678.3
    XP_005257841.1
    XP_005257842.1
    XP_005257843.1
    XP_006722231.1
    XP_011523762.1

    NCBI Reference Sequences (RefSeq)

    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.

    mRNA and Protein(s)

    1. NM_004687.5NP_004678.3  myotubularin-related protein 4

      See identical proteins and their annotated locations for NP_004678.3

      Status: VALIDATED

      Source sequence(s)
      AB014547, BC035609, DR003190
      Consensus CDS
      CCDS11608.1
      UniProtKB/Swiss-Prot
      Q9NYA4
      Related
      ENSP00000325285.5, ENST00000323456.9
      Conserved Domains (3) summary
      cd13342
      Location:23136
      PH-GRAM_MTMR4; Myotubularian (MTM) related 4 protein (MTMR4) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      cd15733
      Location:11111170
      FYVE_MTMR4; FYVE domain found in myotubularin-related protein 4 (MTMR4) and similar proteins
      pfam06602
      Location:127519
      Myotub-related; Myotubularin-like phosphatase domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      58489533..58518109 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005257784.2XP_005257841.1  myotubularin-related protein 4 isoform X1

      Conserved Domains (3) summary
      cd13342
      Location:37150
      PH-GRAM_MTMR4; Myotubularian (MTM) related 4 protein (MTMR4) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      cd15733
      Location:11251184
      FYVE_MTMR4; FYVE domain found in myotubularin-related protein 4 (MTMR4) and similar proteins
      pfam06602
      Location:141533
      Myotub-related; Myotubularin-like phosphatase domain
    2. XM_006722168.4XP_006722231.1  myotubularin-related protein 4 isoform X3

      See identical proteins and their annotated locations for XP_006722231.1

      UniProtKB/Swiss-Prot
      Q9NYA4
      Conserved Domains (3) summary
      cd13342
      Location:23136
      PH-GRAM_MTMR4; Myotubularian (MTM) related 4 protein (MTMR4) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      cd15733
      Location:11111170
      FYVE_MTMR4; FYVE domain found in myotubularin-related protein 4 (MTMR4) and similar proteins
      pfam06602
      Location:127519
      Myotub-related; Myotubularin-like phosphatase domain
    3. XM_005257785.5XP_005257842.1  myotubularin-related protein 4 isoform X2

      See identical proteins and their annotated locations for XP_005257842.1

      Conserved Domains (3) summary
      cd13342
      Location:27140
      PH-GRAM_MTMR4; Myotubularian (MTM) related 4 protein (MTMR4) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      cd15733
      Location:11151174
      FYVE_MTMR4; FYVE domain found in myotubularin-related protein 4 (MTMR4) and similar proteins
      pfam06602
      Location:131523
      Myotub-related; Myotubularin-like phosphatase domain
    4. XM_005257786.5XP_005257843.1  myotubularin-related protein 4 isoform X3

      See identical proteins and their annotated locations for XP_005257843.1

      UniProtKB/Swiss-Prot
      Q9NYA4
      Conserved Domains (3) summary
      cd13342
      Location:23136
      PH-GRAM_MTMR4; Myotubularian (MTM) related 4 protein (MTMR4) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      cd15733
      Location:11111170
      FYVE_MTMR4; FYVE domain found in myotubularin-related protein 4 (MTMR4) and similar proteins
      pfam06602
      Location:127519
      Myotub-related; Myotubularin-like phosphatase domain
    5. XM_011525460.3XP_011523762.1  myotubularin-related protein 4 isoform X2

      See identical proteins and their annotated locations for XP_011523762.1

      Conserved Domains (3) summary
      cd13342
      Location:27140
      PH-GRAM_MTMR4; Myotubularian (MTM) related 4 protein (MTMR4) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      cd15733
      Location:11151174
      FYVE_MTMR4; FYVE domain found in myotubularin-related protein 4 (MTMR4) and similar proteins
      pfam06602
      Location:131523
      Myotub-related; Myotubularin-like phosphatase domain
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