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

Gene ID: 54545, updated on 5-Mar-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
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Genomic context

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Location:
5p13.3
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (32227007..32312939, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (32340660..32426631, complement)
105.20220307 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
  • 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. 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
  5. PTEN and myotubularin phosphatases: from 3-phosphoinositide dephosphorylation to disease. Wishart MJ, et al. Trends Cell Biol, 2002 Dec. PMID 12495846

See all (29) 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_2023_10

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

Gene LinkOut

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