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

Gene ID: 8898, updated on 5-Aug-2018

Summary

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

Genomic context

See MTMR2 in Genome Data Viewer
Location:
11q21
Exon count:
19
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 HNF4 motif-containing MPRA enhancer 300

Genomic regions, transcripts, and products

Expression

  • 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

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 HDA 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
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    Related
    ENSP00000396020.1, ENST00000444541.6
    Conserved Domains (2) summary
    pfam06602
    Location:136456
    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:136456
    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:136456
    Myotub-related; Myotubularin-like phosphatase domain
    cl17171
    Location:1115
    PH-like; Pleckstrin homology-like domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005274375.3XP_005274432.1  myotubularin-related protein 2 isoform X1

    See identical proteins and their annotated locations for XP_005274432.1

    UniProtKB/Swiss-Prot
    Q13614
    UniProtKB/TrEMBL
    A0A024R3B7
    Conserved Domains (2) summary
    pfam06602
    Location:136456
    Myotub-related; Myotubularin-like phosphatase domain
    cl17171
    Location:1115
    PH-like; Pleckstrin homology-like domain
  2. XM_005274374.3XP_005274431.1  myotubularin-related protein 2 isoform X1

    See identical proteins and their annotated locations for XP_005274431.1

    UniProtKB/Swiss-Prot
    Q13614
    UniProtKB/TrEMBL
    A0A024R3B7
    Conserved Domains (2) summary
    pfam06602
    Location:136456
    Myotub-related; Myotubularin-like phosphatase domain
    cl17171
    Location:1115
    PH-like; Pleckstrin homology-like domain
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