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    MTMR2 myotubularin related protein 2 [ Homo sapiens (human) ]

    Gene ID: 8898, updated on 28-Oct-2024

    Summary

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    Official Symbol
    MTMR2provided by HGNC
    Official Full Name
    myotubularin related protein 2provided by HGNC
    Primary source
    HGNC:HGNC:7450
    See related
    Ensembl:ENSG00000087053 MIM:603557; AllianceGenome:HGNC:7450
    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
    CMT4B; CMT4B1
    Summary
    This gene is a member of the myotubularin family of phosphoinositide lipid phosphatases. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
    Expression
    Ubiquitous expression in testis (RPKM 15.9), brain (RPKM 10.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MTMR2 in Genome Data Viewer
    Location:
    11q21
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (95832880..95924107, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (95840305..95931520, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (95566044..95657271, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3851 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5417 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:95523907-95524570 Neighboring gene family with sequence similarity 76 member B Neighboring gene centrosomal protein 57 Neighboring gene RNA, 5S ribosomal pseudogene 345 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5418 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5419 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:95717913-95719112 Neighboring gene ribosomal protein L32 pseudogene 25 Neighboring gene NANOG hESC enhancer GRCh37_chr11:95745200-95745803 Neighboring gene mastermind like transcriptional coactivator 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:95772973-95773473 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3852 Neighboring gene Sharpr-MPRA regulatory region 5330 Neighboring gene HNF4 motif-containing MPRA enhancer 300 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:95882751-95883950 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5420 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:95913186-95914079 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:95914080-95914972 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5421 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5422 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5423 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5424 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5425 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5426 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:96057720-96058919 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:96065505-96066005 Neighboring gene Sharpr-MPRA regulatory region 6339 Neighboring gene microRNA 1260b

    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. An integrative analysis reveals the prognostic value and potential functions of MTMR2 in hepatocellular carcinoma. Yao Y, et al. Sci Rep, 2023 Oct 31. PMID 37907649, Free PMC Article
    2. Differential phosphorylation of the phosphoinositide 3-phosphatase MTMR2 regulates its association with early endosomal subtypes. Franklin NE, et al. J Cell Sci, 2013 Mar 15. PMID 23378027
    3. A novel homozygous mutation in the MTMR2 gene in two siblings with 'hypermyelinating neuropathy'. Luigetti M, et al. J Peripher Nerv Syst, 2013 Jun. PMID 23781969
    4. Endosomal targeting of the phosphoinositide 3-phosphatase MTMR2 is regulated by an N-terminal phosphorylation site. Franklin NE, et al. J Biol Chem, 2011 May 6. PMID 21372139, Free PMC Article
    5. Vocal cord paralysis in Charcot-Marie-Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literature. Zambon AA, et al. Neuromuscul Disord, 2017 May. PMID 28190646, Free PMC Article

    See all (68) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. An integrative analysis reveals the prognostic value and potential functions of MTMR2 in hepatocellular carcinoma.
      Title: An integrative analysis reveals the prognostic value and potential functions of MTMR2 in hepatocellular carcinoma.
    2. Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report.
      Title: Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report.
    3. MTMR2 promotes the progression of NK/T cell lymphoma by targeting JAK1.
      Title: MTMR2 promotes the progression of NK/T cell lymphoma by targeting JAK1.
    4. Our findings suggest that MTMR2 is an important promoter in gastric cancer (GC) invasion and metastasis by inactivating IFNgamma/STAT1 signaling and may act as a new prognostic indicator and a potential therapeutic target for GC.
      Title: MTMR2 promotes invasion and metastasis of gastric cancer via inactivating IFNγ/STAT1 signaling.
    5. report the case of a Charcot-Marie-Tooth type 4B1 patient with a novel mutation in the MTMR2 gene (nonsense mutation in exon 6c.484 C>T; p.Arg162*) who started to experience stridor and was diagnosed with bilateral vocal cord paralysis at the age of 18 months - case report and review
      Title: Vocal cord paralysis in Charcot-Marie-Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literature.
    6. Expression of several MTMR2 isoforms ameliorates the myopathic phenotype owing to MTM1 loss, with increased muscle force, reduced myofiber atrophy, and reduction of the intracellular disorganization hallmarks associated with myotubular myopathy.
      Title: Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy.
    7. The expression of the endogenous transcript is induced in a heterologous cell line by ectopically expressing SOX10, and is nearly ablated in Schwann cells by impairing SOX10 function. Intriguingly, overexpressing the two MTMR2 protein isoforms in HeLa cells revealed that both localize to nuclear puncta and the shorter isoform displays higher nuclear localization compared to the longer isoform
      Title: SOX10 regulates an alternative promoter at the Charcot-Marie-Tooth disease locus MTMR2.
    8. we identified a novel mutation in MTMR2 in a family with CMT4B1 and myelin outfoldings
      Title: A novel homozygous mutation in the MTMR2 gene in two siblings with 'hypermyelinating neuropathy'.
    9. these results reveal that MTMR2 compartmentalization and potential subsequent effects on endosome maturation and endosome signaling are dynamically regulated through MAPK-mediated differential phosphorylation events.
      Title: Differential phosphorylation of the phosphoinositide 3-phosphatase MTMR2 regulates its association with early endosomal subtypes.
    10. Mutations in LITAF, RAB7, LMNA, and MTMR2 genes are rare in Chinese Charcot-Marie-Tooth disease (CMT) patients.
      Title: [Mutation analysis of LITAF, RAB7, LMNA and MTMR2 genes in Chinese Charcot-Marie-Tooth disease.].
    Submit: New GeneRIF Correction See all GeneRIFs (24)

    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

    Associated conditions

    Description Tests
    Charcot-Marie-Tooth disease type 4B1
    MedGen: C1832399 OMIM: 601382 GeneReviews: Not available
    		Compare labs

    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

    Clone Names

    • KIAA1073

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity TAS
    Traceable Author Statement
    more info
    		  
    enables phosphatidylinositol-3-phosphate phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylinositol-3-phosphate phosphatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphatidylinositol-3-phosphate phosphatase activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in dendritic spine maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in myelin assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of endocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of excitatory postsynaptic potential ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of myelination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of receptor catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of receptor internalization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in neuron development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in phosphatidylinositol biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in phosphatidylinositol dephosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in phosphatidylinositol dephosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of early endosome to late endosome transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of phosphatidylinositol dephosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in axon ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in dendrite ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in dendritic spine ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in early endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in postsynaptic density ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in synaptic membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in synaptic vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in vacuolar membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR2; myotubularin-related protein 2
    Names
    phosphatidylinositol-3,5-bisphosphate 3-phosphatase
    phosphatidylinositol-3-phosphatase
    phosphatidylinositol-3-phosphate phosphatase
    phosphoinositide-3-phosphatase
    NP_001230500.1
    NP_057240.3
    NP_958435.1
    NP_958438.1
    XP_047283761.1
    XP_047283762.1
    XP_047283763.1
    XP_047283764.1
    XP_054226341.1
    XP_054226342.1
    XP_054226343.1
    XP_054226344.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_008333.1 RefSeqGene

      Range
      5001..96328
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_257

    mRNA and Protein(s)

    1. NM_001243571.2 → NP_001230500.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR2 isoform 2

      See identical proteins and their annotated locations for NP_001230500.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) includes three additional internal exons in its 5' UTR and initiates translation at a downstream start codon, compared to variant 1, resulting in an isoform (2) that is shorter at the N-terminus, compared to isoform 1. Variants 2, 3 and 4 encode the same isoform.
      Source sequence(s)
      AB028996, AK027038, BC012086, BF960838, BP358035, BX647997, DR762520, GD143864, U58033
      Consensus CDS
      CCDS8306.1
      UniProtKB/TrEMBL
      A0A6Q8PGS5
      Related
      ENSP00000501702.1, ENST00000675489.1
      Conserved Domains (2) summary
      pfam06602
      Location:130 → 456
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:1 → 115
      PH-like; Pleckstrin homology-like domain

    2. NM_016156.6 → NP_057240.3  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR2 isoform 1

      See identical proteins and their annotated locations for NP_057240.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AB028996, AI360884, BP358035, BX107577, BX647997, DR762520, GD143864
      Consensus CDS
      CCDS8305.1
      UniProtKB/Swiss-Prot
      A6NN98, Q13614, Q9UPS9
      UniProtKB/TrEMBL
      A8K5G2
      Related
      ENSP00000345752.6, ENST00000346299.10
      Conserved Domains (2) summary
      pfam06602
      Location:192 → 528
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:73 → 187
      PH-like; Pleckstrin homology-like domain

    3. NM_201278.3 → NP_958435.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR2 isoform 2

      See identical proteins and their annotated locations for NP_958435.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) includes two additional internal exons in its 5' UTR and initiates translation at a downstream start codon, compared to variant 1, resulting in an isoform (2) that is shorter at the N-terminus, compared to isoform 1. Variants 2, 3 and 4 encode the same isoform.
      Source sequence(s)
      AB028996, AI360884, BC034474, BP358035, BX107577, BX647997, DR762520, GD143864
      Consensus CDS
      CCDS8306.1
      UniProtKB/TrEMBL
      A0A6Q8PGS5
      Related
      ENSP00000501675.1, ENST00000676261.1
      Conserved Domains (2) summary
      pfam06602
      Location:130 → 456
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:1 → 115
      PH-like; Pleckstrin homology-like domain

    4. NM_201281.3 → NP_958438.1  phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR2 isoform 2

      See identical proteins and their annotated locations for NP_958438.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) includes an additional internal exon in its 5' UTR and initiates translation at a downstream start codon, compared to variant 1, resulting in an isoform (2) that is shorter at the N-terminus, compared to isoform 1. Variants 2, 3 and 4 encode the same isoform.
      Source sequence(s)
      AB028996, AI360884, BX107577, BX647997, DR762520, GD143864
      Consensus CDS
      CCDS8306.1
      UniProtKB/TrEMBL
      A0A6Q8PGS5
      Related
      ENSP00000343737.7, ENST00000352297.11
      Conserved Domains (2) summary
      pfam06602
      Location:130 → 456
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:1 → 115
      PH-like; Pleckstrin homology-like domain

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      95832880..95924107 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047427806.1 → XP_047283762.1  myotubularin-related protein 2 isoform X2

      Related
      ENSP00000501781.1, ENST00000675454.1

    2. XM_047427807.1 → XP_047283763.1  myotubularin-related protein 2 isoform X2

      Related
      ENSP00000502567.1, ENST00000674968.1

    3. XM_047427808.1 → XP_047283764.1  myotubularin-related protein 2 isoform X2

      Related
      ENSP00000501567.1, ENST00000674528.1

    4. XM_047427805.1 → XP_047283761.1  myotubularin-related protein 2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      95840305..95931520 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370369.1 → XP_054226344.1  myotubularin-related protein 2 isoform X2

    2. XM_054370367.1 → XP_054226342.1  myotubularin-related protein 2 isoform X2

    3. XM_054370368.1 → XP_054226343.1  myotubularin-related protein 2 isoform X2

    4. XM_054370366.1 → XP_054226341.1  myotubularin-related protein 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13614.4 GenPept UniProtKB/Swiss-Prot:Q13614

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