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    MTMR12 myotubularin related protein 12 [ Homo sapiens (human) ]

    Gene ID: 54545, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MTMR12provided by HGNC
    Official Full Name
    myotubularin related protein 12provided by HGNC
    Primary source
    HGNC:HGNC:18191
    See related
    Ensembl:ENSG00000150712 MIM:606501; AllianceGenome:HGNC:18191
    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
    3-PAP; PIP3AP
    Summary
    Phosphatidylinositide 3-kinase-derived membrane-anchored phosphatidylinositides, such as phosphatidylinositol 3-phosphate (PtdIns(3)P), regulate diverse cellular processes. The protein encoded by this gene functions as an adaptor subunit in a complex with an active PtdIns(3)P 3-phosphatase. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
    Expression
    Ubiquitous expression in testis (RPKM 14.2), lung (RPKM 9.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MTMR12 in Genome Data Viewer
    Location:
    5p13.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (32227007..32312939, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (32340660..32426631, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (32227113..32313045, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:32125750-32126949 Neighboring gene golgi phosphoprotein 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15953 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15954 Neighboring gene Sharpr-MPRA regulatory region 2864 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:32231740-32232285 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:32232286-32232830 Neighboring gene MTMR12 eExon liver enhancer Neighboring gene ribosomal protein L27 pseudogene 10 Neighboring gene RNA, U6 small nuclear 1079, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22438 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22439 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22440 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22441 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22443 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22442 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:32310088-32310248 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15955 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15956 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22444 Neighboring gene RNA, U6 small nuclear 378, pseudogene Neighboring gene MPRA-validated peak5220 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr5:32372846-32373049 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:32376171-32376388 Neighboring gene zinc finger RNA binding protein Neighboring gene microRNA 579 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:32443940-32444497 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15958 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:32501369-32502015 Neighboring gene uncharacterized LOC124900954 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:32511632-32512132 Neighboring gene TMEM183A pseudogene 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Characterization of an adapter subunit to a phosphatidylinositol (3)P 3-phosphatase: identification of a myotubularin-related protein lacking catalytic activity. Nandurkar HH, et al. Proc Natl Acad Sci U S A, 2001 Aug 14. PMID 11504939, Free PMC Article
    2. Mutation screening of PDZD2, GOLPH3, and MTMR12 genes in patients with schizophrenia. Ritter BP, et al. Psychiatr Genet, 2012 Feb. PMID 21451436
    3. Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish. Gupta VA, et al. PLoS Genet, 2013 Jun. PMID 23818870, Free PMC Article
    4. PTEN and myotubularin phosphatases: from 3-phosphoinositide dephosphorylation to disease. Wishart MJ, et al. Trends Cell Biol, 2002 Dec. PMID 12495846
    5. Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP. Nandurkar HH, et al. Proc Natl Acad Sci U S A, 2003 Jul 22. PMID 12847286, Free PMC Article

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Analysis of human XLMTM patient myotubes showed that mutations that disrupt the interaction between myotubularin and MTMR12 proteins result in reduction of both myotubularin and MTMR12
      Title: Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish.
    2. This study does not support the association of PDZD2, GOLPH3, and MTMR12 genes with schizophrenia.
      Title: Mutation screening of PDZD2, GOLPH3, and MTMR12 genes in patients with schizophrenia.
    3. 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.
    4. Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP.
      Title: Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP.
    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)

    Genotypes

    Pathways from PubChem

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    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 phosphatidylinositol dephosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in sarcomere IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in sarcoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    myotubularin-related protein 12
    Names
    3-phosphatase adapter protein
    3-phosphatase adapter subunit
    inactive phosphatidylinositol 3-phosphatase 12
    phosphatidylinositol 3 phosphate 3-phosphatase adapter subunit
    phosphatidylinositol-3 phosphate 3-phosphatase adaptor subunit
    phosphatidylinositol-3-phosphate associated protein

    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.

    mRNA and Protein(s)

    1. NM_001040446.3 → NP_001035536.1  myotubularin-related protein 12 isoform 1

      See identical proteins and their annotated locations for NP_001035536.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC025181, AY028703, BC057393
      Consensus CDS
      CCDS34138.1
      UniProtKB/Swiss-Prot
      Q69YJ4, Q6PFW3, Q96QU2, Q9C0I1, Q9NX27
      Related
      ENSP00000371577.3, ENST00000382142.8
      Conserved Domains (3) summary
      pfam12578
      Location:563 → 686
      3-PAP; Myotubularin-associated protein
      cl17171
      Location:26 → 202
      PH-like; Pleckstrin homology-like domain
      cl21483
      Location:228 → 496
      PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...

    2. NM_001294343.2 → NP_001281272.1  myotubularin-related protein 12 isoform 2

      See identical proteins and their annotated locations for NP_001281272.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AC025181, BC057393, DB483084
      Consensus CDS
      CCDS77998.1
      UniProtKB/Swiss-Prot
      Q9C0I1
      Related
      ENSP00000280285.5, ENST00000280285.9
      Conserved Domains (3) summary
      pfam12578
      Location:509 → 632
      3-PAP; Myotubularin-associated protein
      cl17171
      Location:26 → 202
      PH-like; Pleckstrin homology-like domain
      cl21483
      Location:228 → 496
      PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...

    3. NM_001294344.2 → NP_001281273.1  myotubularin-related protein 12 isoform 3

      See identical proteins and their annotated locations for NP_001281273.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two in-frame exons in the 3' coding region, compared to variant 1. The resulting isoform (3) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AC025181, AK000483, BC057393
      Consensus CDS
      CCDS75230.1
      UniProtKB/Swiss-Prot
      Q9C0I1
      Related
      ENSP00000264934.5, ENST00000264934.5
      Conserved Domains (3) summary
      pfam12578
      Location:453 → 576
      3-PAP; Myotubularin-associated protein
      cl17171
      Location:26 → 202
      PH-like; Pleckstrin homology-like domain
      cl21483
      Location:228 → 454
      PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      32227007..32312939 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      32340660..32426631 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_019061.2: Suppressed sequence

      Description
      NM_019061.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9C0I1.2 GenPept UniProtKB/Swiss-Prot:Q9C0I1

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