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

Gene ID: 8898, updated on 27-Jun-2015
Official Symbol
MTMR2provided by HGNC
Official Full Name
myotubularin related protein 2provided by HGNC
Primary source
HGNC:HGNC:7450
See related
Ensembl:ENSG00000087053; HPRD:04650; 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]
Orthologs
See MTMR2 in Epigenomics, MapViewer
Location:
11q22
Exon count:
20
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 57kDa Neighboring gene RNA, 5S ribosomal pseudogene 345 Neighboring gene ribosomal protein L32 pseudogene 25 Neighboring gene mastermind-like 2 (Drosophila) Neighboring gene microRNA 1260b

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

Function Evidence Code Pubs
phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol-3-phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
protein tyrosine phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
protein tyrosine/serine/threonine phosphatase activity NAS
Non-traceable Author Statement
more info
PubMed 
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 membrane 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 
phospholipid metabolic process TAS
Traceable Author Statement
more info
 
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
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
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 
neuronal postsynaptic density ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
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
myotubularin-related protein 2
phosphatidylinositol-3,5-bisphosphate 3-phosphatase
phosphatidylinositol-3-phosphate phosphatase
NP_001230500.1
NP_057240.3
NP_958435.1
NP_958438.1

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/TrEMBL
    A0A024R3B7
    UniProtKB/Swiss-Prot
    Q13614
    Conserved Domains (2) summary
    pfam06602
    Location:119459
    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, OTTHUMP00000204445, ENST00000346299, OTTHUMT00000332620
    Conserved Domains (2) summary
    pfam06602
    Location:191531
    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/TrEMBL
    A0A024R3B7
    UniProtKB/Swiss-Prot
    Q13614
    Conserved Domains (2) summary
    pfam06602
    Location:119459
    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/TrEMBL
    A0A024R3B7
    UniProtKB/Swiss-Prot
    Q13614
    Related
    ENSP00000376915, ENST00000393223
    Conserved Domains (2) summary
    pfam06602
    Location:119459
    Myotub-related; Myotubularin-like phosphatase domain
    cl17171
    Location:1115
    PH-like; Pleckstrin homology-like domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_006718934.1XP_006718997.1  

    See identical proteins and their annotated locations for XP_006718997.1

    UniProtKB/TrEMBL
    A0A024R3B7
    UniProtKB/Swiss-Prot
    Q13614
    Conserved Domains (2) summary
    pfam06602
    Location:119459
    Myotub-related; Myotubularin-like phosphatase domain
    cl17171
    Location:1115
    PH-like; Pleckstrin homology-like domain
  2. XM_006718936.2XP_006718999.1  

    See identical proteins and their annotated locations for XP_006718999.1

    UniProtKB/TrEMBL
    A0A024R3B7
    UniProtKB/Swiss-Prot
    Q13614
    Conserved Domains (2) summary
    pfam06602
    Location:119459
    Myotub-related; Myotubularin-like phosphatase domain
    cl17171
    Location:1115
    PH-like; Pleckstrin homology-like domain
  3. XM_005274375.1XP_005274432.1  

    See identical proteins and their annotated locations for XP_005274432.1

    UniProtKB/TrEMBL
    A0A024R3B7
    UniProtKB/Swiss-Prot
    Q13614
    Conserved Domains (2) summary
    pfam06602
    Location:119459
    Myotub-related; Myotubularin-like phosphatase domain
    cl17171
    Location:1115
    PH-like; Pleckstrin homology-like domain
  4. XM_011543058.1XP_011541360.1  

    See identical proteins and their annotated locations for XP_011541360.1

    Conserved Domains (2) summary
    pfam06602
    Location:144484
    Myotub-related; Myotubularin-like phosphatase domain
    cl17171
    Location:26140
    PH-like; Pleckstrin homology-like domain
  5. XM_006718935.1XP_006718998.1  

    See identical proteins and their annotated locations for XP_006718998.1

    UniProtKB/TrEMBL
    A0A024R3B7
    UniProtKB/Swiss-Prot
    Q13614
    Conserved Domains (2) summary
    pfam06602
    Location:119459
    Myotub-related; Myotubularin-like phosphatase domain
    cl17171
    Location:1115
    PH-like; Pleckstrin homology-like domain
  6. XM_005274374.1XP_005274431.1  

    See identical proteins and their annotated locations for XP_005274431.1

    UniProtKB/TrEMBL
    A0A024R3B7
    UniProtKB/Swiss-Prot
    Q13614
    Conserved Domains (2) summary
    pfam06602
    Location:119459
    Myotub-related; Myotubularin-like phosphatase domain
    cl17171
    Location:1115
    PH-like; Pleckstrin homology-like domain
  7. XM_011543059.1XP_011541361.1  

    See identical proteins and their annotated locations for XP_011541361.1

    Conserved Domains (2) summary
    pfam06602
    Location:144484
    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
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)