Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

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

    Gene ID: 8898, updated on 24-Nov-2017
    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; Vega:OTTHUMG00000153837
    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
    Location:
    11q21
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (95832880..95924207, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (95566044..95657371, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 76 member B Neighboring gene centrosomal protein 57 Neighboring gene RNA, 5S ribosomal pseudogene 345 Neighboring gene ribosomal protein L32 pseudogene 25 Neighboring gene mastermind like transcriptional coactivator 2 Neighboring gene microRNA 1260b

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • KIAA1073

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    dendritic spine maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    inositol phosphate dephosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    myelin assembly IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of endocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of excitatory postsynaptic potential ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of myelination IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of receptor catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of receptor internalization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    neuron development IEA
    Inferred from Electronic Annotation
    more info
     
    peptidyl-tyrosine dephosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    phosphatidylinositol biosynthetic process TAS
    Traceable Author Statement
    more info
     
    phosphatidylinositol dephosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of early endosome to late endosome transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein dephosphorylation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein tetramerization IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of phosphatidylinositol dephosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    axon ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    dendrite ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    dendritic spine ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    early endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    postsynaptic density ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    synaptic membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    synaptic vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    vacuolar membrane IEA
    Inferred from Electronic Annotation
    more info
     
    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_005274431.1
    XP_005274432.1
    XP_006718997.1
    XP_006718998.1
    XP_006718999.1
    XP_011541360.1
    XP_011541361.1
    XP_016874006.1
    XP_016874007.1

    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_001243571.1NP_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/Swiss-Prot
      Q13614
      UniProtKB/TrEMBL
      A0A024R3B7
      Conserved Domains (2) summary
      pfam06602
      Location:120455
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:1115
      PH-like; Pleckstrin homology-like domain
    2. NM_016156.5NP_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
      Q13614
      Related
      ENSP00000345752.5, OTTHUMP00000204445, ENST00000346299.9, OTTHUMT00000332620
      Conserved Domains (2) summary
      pfam06602
      Location:192527
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:73187
      PH-like; Pleckstrin homology-like domain
    3. NM_201278.2NP_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/Swiss-Prot
      Q13614
      UniProtKB/TrEMBL
      A0A024R3B7
      Conserved Domains (2) summary
      pfam06602
      Location:120455
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:1115
      PH-like; Pleckstrin homology-like domain
    4. NM_201281.2NP_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, BP358035, BX107577, BX647997, DR762520, GD143864
      Consensus CDS
      CCDS8306.1
      UniProtKB/Swiss-Prot
      Q13614
      UniProtKB/TrEMBL
      A0A024R3B7
      Related
      ENSP00000343737.7, OTTHUMP00000204446, ENST00000352297.11, OTTHUMT00000332621
      Conserved Domains (2) summary
      pfam06602
      Location:120455
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:1115
      PH-like; Pleckstrin homology-like domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      95832880..95924207 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006718936.3XP_006718999.1  myotubularin-related protein 2 isoform X2

      See identical proteins and their annotated locations for XP_006718999.1

      UniProtKB/Swiss-Prot
      Q13614
      UniProtKB/TrEMBL
      A0A024R3B7
      Conserved Domains (2) summary
      pfam06602
      Location:120455
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:1115
      PH-like; Pleckstrin homology-like domain
    2. XM_006718934.2XP_006718997.1  myotubularin-related protein 2 isoform X2

      See identical proteins and their annotated locations for XP_006718997.1

      UniProtKB/Swiss-Prot
      Q13614
      UniProtKB/TrEMBL
      A0A024R3B7
      Related
      ENSP00000386882.1, OTTHUMP00000204447, ENST00000409459.5, OTTHUMT00000332622
      Conserved Domains (2) summary
      pfam06602
      Location:120455
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:1115
      PH-like; Pleckstrin homology-like domain
    3. XM_017018517.1XP_016874006.1  myotubularin-related protein 2 isoform X2

      UniProtKB/Swiss-Prot
      Q13614
      UniProtKB/TrEMBL
      A0A024R3B7
      Conserved Domains (2) summary
      pfam06602
      Location:120455
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:1115
      PH-like; Pleckstrin homology-like domain
    4. XM_005274375.2XP_005274432.1  myotubularin-related protein 2 isoform X2

      See identical proteins and their annotated locations for XP_005274432.1

      UniProtKB/Swiss-Prot
      Q13614
      UniProtKB/TrEMBL
      A0A024R3B7
      Conserved Domains (2) summary
      pfam06602
      Location:120455
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:1115
      PH-like; Pleckstrin homology-like domain
    5. XM_011543058.2XP_011541360.1  myotubularin-related protein 2 isoform X1

      See identical proteins and their annotated locations for XP_011541360.1

      Conserved Domains (2) summary
      pfam06602
      Location:145480
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:26140
      PH-like; Pleckstrin homology-like domain
    6. XM_006718935.2XP_006718998.1  myotubularin-related protein 2 isoform X2

      See identical proteins and their annotated locations for XP_006718998.1

      UniProtKB/Swiss-Prot
      Q13614
      UniProtKB/TrEMBL
      A0A024R3B7
      Conserved Domains (2) summary
      pfam06602
      Location:120455
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:1115
      PH-like; Pleckstrin homology-like domain
    7. XM_017018518.1XP_016874007.1  myotubularin-related protein 2 isoform X2

      UniProtKB/Swiss-Prot
      Q13614
      UniProtKB/TrEMBL
      A0A024R3B7
      Related
      ENSP00000396020.1, OTTHUMP00000204448, ENST00000444541.6, OTTHUMT00000332623
      Conserved Domains (2) summary
      pfam06602
      Location:120455
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:1115
      PH-like; Pleckstrin homology-like domain
    8. XM_005274374.2XP_005274431.1  myotubularin-related protein 2 isoform X2

      See identical proteins and their annotated locations for XP_005274431.1

      UniProtKB/Swiss-Prot
      Q13614
      UniProtKB/TrEMBL
      A0A024R3B7
      Conserved Domains (2) summary
      pfam06602
      Location:120455
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:1115
      PH-like; Pleckstrin homology-like domain
    9. XM_011543059.2XP_011541361.1  myotubularin-related protein 2 isoform X1

      See identical proteins and their annotated locations for XP_011541361.1

      Conserved Domains (2) summary
      pfam06602
      Location:145480
      Myotub-related; Myotubularin-like phosphatase domain
      cl17171
      Location:26140
      PH-like; Pleckstrin homology-like domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      95449060..95540399 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center