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Mtmr2 myotubularin related protein 2 [ Mus musculus (house mouse) ]

Gene ID: 77116, updated on 4-Jan-2025

Summary

Official Symbol
Mtmr2provided by MGI
Official Full Name
myotubularin related protein 2provided by MGI
Primary source
MGI:MGI:1924366
See related
Ensembl:ENSMUSG00000031918 AllianceGenome:MGI:1924366
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
6030445P13Rik
Summary
Enables identical protein binding activity; phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity; and phosphatidylinositol-3-phosphate phosphatase activity. Acts upstream of or within negative regulation of myelination; nervous system development; and phosphatidylinositol dephosphorylation. Located in vacuolar membrane. Is expressed in several structures, including eye; genitourinary system; gut; immune system; and nervous system. Used to study Charcot-Marie-Tooth disease type 4B1. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 4B1. Orthologous to human MTMR2 (myotubularin related protein 2). [provided by Alliance of Genome Resources, Jan 2025]
Expression
Ubiquitous expression in adrenal adult (RPKM 8.9), cerebellum adult (RPKM 7.0) and 28 other tissues See more
Orthologs
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Genomic context

See Mtmr2 in Genome Data Viewer
Location:
9 A1; 9 3.44 cM
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (13660397..13720192)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (13747260..13808896)

Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene mastermind like transcriptional coactivator 2 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:13269708-13269915 Neighboring gene per-hexamer repeat gene 4 Neighboring gene STARR-seq mESC enhancer starr_23332 Neighboring gene STARR-seq mESC enhancer starr_23333 Neighboring gene STARR-seq mESC enhancer starr_23334 Neighboring gene STARR-seq mESC enhancer starr_23335 Neighboring gene predicted gene, 51666 Neighboring gene VISTA enhancer mm1371 Neighboring gene predicted gene, 39291 Neighboring gene predicted gene, 53498 Neighboring gene STARR-seq mESC enhancer starr_23340 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:13631030-13631139 Neighboring gene STARR-positive B cell enhancer ABC_E3815 Neighboring gene STARR-positive B cell enhancer ABC_E363 Neighboring gene centrosomal protein 57 Neighboring gene family with sequence similarity 76, member B Neighboring gene peptidylprolyl isomerase B pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (4) 
  • Targeted (4)  1 citation

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by MGI

Process Evidence Code Pubs
involved_in dendritic spine maintenance  
acts_upstream_of_or_within dephosphorylation PubMed 
acts_upstream_of_or_within myelin assembly PubMed 
acts_upstream_of_or_within myelin assembly PubMed 
acts_upstream_of myelination PubMed 
involved_in negative regulation of endocytosis  
involved_in negative regulation of excitatory postsynaptic potential  
acts_upstream_of_or_within negative regulation of myelination PubMed 
acts_upstream_of_or_within negative regulation of myelination PubMed 
involved_in negative regulation of receptor catabolic process  
involved_in negative regulation of receptor internalization  
acts_upstream_of_or_within neuron development PubMed 
involved_in phosphatidylinositol dephosphorylation  
acts_upstream_of_or_within phosphatidylinositol dephosphorylation PubMed 
involved_in phosphatidylinositol dephosphorylation  
acts_upstream_of_or_within phosphatidylinositol metabolic process PubMed 
involved_in positive regulation of early endosome to late endosome transport  
involved_in regulation of phosphatidylinositol dephosphorylation  
involved_in regulation of phosphatidylinositol dephosphorylation  
Component Evidence Code Pubs
located_in axon  
located_in axon  
is_active_in cytoplasm  
located_in cytoplasm PubMed 
located_in cytoplasm  
located_in cytosol  
located_in cytosol  
located_in cytosol  
located_in dendrite  
located_in dendritic spine  
located_in early endosome membrane  
located_in intracellular membrane-bounded organelle  
is_active_in membrane  
located_in nucleus  
located_in nucleus  
located_in perinuclear region of cytoplasm  
located_in postsynaptic density  
located_in synaptic membrane  
located_in synaptic vesicle  
located_in vacuolar membrane PubMed 

General protein information

Preferred Names
phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR2; myotubularin-related protein 2
Names
phosphatidylinositol-3,5-bisphosphate 3-phosphatase
phosphatidylinositol-3-phosphate phosphatase
NP_001359502.1
NP_001360802.1
NP_001360803.1
NP_001360804.1
NP_001360805.1
NP_001360806.1
NP_001360807.1
NP_076347.3
XP_036011299.1
XP_036011300.1

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_001372573.1NP_001359502.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    CT010488
    UniProtKB/TrEMBL
    Q3V030, Q6P572
    Conserved Domains (2) summary
    pfam06602
    Location:120456
    Myotub-related; Myotubularin-like phosphatase domain
    cl17171
    Location:1115
    PH-like; Pleckstrin homology-like domain
  2. NM_001373873.1NP_001360802.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR2 isoform 3

    Status: VALIDATED

    Source sequence(s)
    CT010488
    UniProtKB/TrEMBL
    Q3V030
    Conserved Domains (2) summary
    pfam06602
    Location:192494
    Myotub-related; Myotubularin-like phosphatase domain
    cl17171
    Location:73187
    PH-like; Pleckstrin homology-like domain
  3. NM_001373874.1NP_001360803.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR2 isoform 4

    Status: VALIDATED

    Source sequence(s)
    CT010488
    UniProtKB/TrEMBL
    Q3V030
    Conserved Domains (2) summary
    pfam06602
    Location:130463
    Myotub-related; Myotubularin-like phosphatase domain
    cl17171
    Location:1115
    PH-like; Pleckstrin homology-like domain
  4. NM_001373875.1NP_001360804.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    CT010488
    UniProtKB/TrEMBL
    Q3V030, Q6P572
    Related
    ENSMUSP00000115906.2, ENSMUST00000155679.8
    Conserved Domains (2) summary
    pfam06602
    Location:120456
    Myotub-related; Myotubularin-like phosphatase domain
    cl17171
    Location:1115
    PH-like; Pleckstrin homology-like domain
  5. NM_001373876.1NP_001360805.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    CT010488
    UniProtKB/TrEMBL
    Q3V030, Q6P572
    Conserved Domains (2) summary
    pfam06602
    Location:120456
    Myotub-related; Myotubularin-like phosphatase domain
    cl17171
    Location:1115
    PH-like; Pleckstrin homology-like domain
  6. NM_001373877.1NP_001360806.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    CT010488
    UniProtKB/TrEMBL
    Q3V030, Q6P572
    Conserved Domains (2) summary
    pfam06602
    Location:120456
    Myotub-related; Myotubularin-like phosphatase domain
    cl17171
    Location:1115
    PH-like; Pleckstrin homology-like domain
  7. NM_001373878.1NP_001360807.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    CT010488
    UniProtKB/TrEMBL
    Q3V030, Q6P572
    Conserved Domains (2) summary
    pfam06602
    Location:120456
    Myotub-related; Myotubularin-like phosphatase domain
    cl17171
    Location:1115
    PH-like; Pleckstrin homology-like domain
  8. NM_023858.4NP_076347.3  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR2 isoform 1

    See identical proteins and their annotated locations for NP_076347.3

    Status: VALIDATED

    Source sequence(s)
    CT010488
    Consensus CDS
    CCDS22818.3
    UniProtKB/Swiss-Prot
    B8JJF4, Q8VHA7, Q9Z2D1
    UniProtKB/TrEMBL
    Q3V030
    Related
    ENSMUSP00000034396.8, ENSMUST00000034396.14
    Conserved Domains (2) summary
    pfam06602
    Location:192528
    Myotub-related; Myotubularin-like phosphatase domain
    cl17171
    Location:73187
    PH-like; Pleckstrin homology-like domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000075.7 Reference GRCm39 C57BL/6J

    Range
    13660397..13720192
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036155406.1XP_036011299.1  myotubularin-related protein 2 isoform X1

    Conserved Domains (2) summary
    pfam06602
    Location:270603
    Myotub-related; Myotubularin-like phosphatase domain
    cl17171
    Location:141255
    PH-like; Pleckstrin homology-like domain
  2. XM_036155407.1XP_036011300.1  myotubularin-related protein 2 isoform X2

    UniProtKB/TrEMBL
    Q3V030
    Conserved Domains (2) summary
    pfam06602
    Location:130463
    Myotub-related; Myotubularin-like phosphatase domain
    cl17171
    Location:1115
    PH-like; Pleckstrin homology-like domain

RNA

  1. XR_004935602.1 RNA Sequence

    Related
    ENSMUST00000134674.8
  2. XR_004935597.1 RNA Sequence

  3. XR_004935594.1 RNA Sequence

  4. XR_004935598.1 RNA Sequence

  5. XR_004935596.1 RNA Sequence

  6. XR_004935601.1 RNA Sequence

  7. XR_004935593.1 RNA Sequence

  8. XR_004935600.1 RNA Sequence

  9. XR_004935595.1 RNA Sequence

  10. XR_004935599.1 RNA Sequence

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