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

Gene ID: 8898, updated on 3-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (95832880..95924107, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (95840305..95931520, complement)
105.20220307 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
  • 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. Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report. Halperin D, et al. Neurogenetics, 2020 Oct. PMID 32488727
  2. 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
  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. 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
  5. 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

See all (61) 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
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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 
enables protein tyrosine/serine/threonine phosphatase activity NAS
Non-traceable Author Statement
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 protein dephosphorylation NAS
Non-traceable Author Statement
more info
 PubMed 
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
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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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  myotubularin-related protein 2 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  myotubularin-related protein 2 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  myotubularin-related protein 2 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  myotubularin-related protein 2 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_2023_10

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

Gene LinkOut

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