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Mtmr2
Gene Detail
Symbol

Name
ID
Mtmr2
myotubularin related protein 2
MGI:1924366
Synonyms
6030445P13Rik
Feature Type
protein coding gene
Genetic Map
Chromosome 9
3.44 cM, cytoband A1
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr9:13748410-13806481 bp, + strand
From VEGA annotation of GRCm38

  58072 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:22951  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: MTMR2
Gene Tree: Mtmr2

Human
homologs
MTMR2, myotubularin related protein 2
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 8898
neXtProt AC: NX_Q13614

Human Synonyms: CMT4B, CMT4B1

Human Chr (Location): 11q22; chr11:95832880-95924207 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human MTMR2

Mutations,
alleles, and
phenotypes
All mutations/alleles(14) : Gene trapped(7) Targeted(7)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous null mutants develop progressive neuropathy characterized by myelin outfolding and recurrent loops and depletion of spermatids and spermatocytes from the seminiferous epithelium.
 
Human Diseases Modeled in Mice Using Mtmr2 (1)    Mutations Annotated to Human Diseases (2)   
Interactions
Mtmr2 interacts with 371 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (42 annotations)
Process dendritic spine maintenance, dephosphorylation, ...
Component axon, cytoplasm, ...
Function hydrolase activity, phosphatase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (244)    Tissues (199)    Images (94)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 94
In situ reporter (knock in) 112
RT-PCR 38
cDNA source data(63)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase mtmr2    NEW 
Molecular
reagents
All nucleic(65) Genomic(1) cDNA(63) Primer pair(1)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000032802 (Evidence)
Ensembl Gene Model ENSMUSG00000031918 (Evidence)
Entrez Gene 77116 (Evidence)
UniGene 210405
DFCI TC1576671, TC1585235, TC1605675, TC1619863, TC1743404
DoTS DT.101365158, DT.489928, DT.91418215, DT.99855238, DT.99855243
NIA Mouse Gene Index U010060
EC 3.1.3.64, 3.1.3.95
Consensus CDS Project CCDS22818.3
International Mouse Phenotyping Consortium Status Mtmr2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000032802 VEGA Gene Model | MGI Sequence Detail 58072 C57BL/6J ±  kb
transcript OTTMUST00000081691 VEGA | MGI Sequence Detail 3788 Not Applicable 
polypeptide OTTMUSP00000043731 VEGA | MGI Sequence Detail 643 Not Applicable 

For the selected sequences
All sequences(88) RefSeq(21) UniProt(7)
Polymorphisms
SNPs within 2kb(166 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR004182 GRAM domain
InterPro IPR030564 Myotubularin family
InterPro IPR010569 Myotubularin-like phosphatase domain
InterPro IPR030587 Myotubularin-related protein 1/2
InterPro IPR011993 Pleckstrin-homology domain (PH domain)/Phosphotyrosine-binding domain (PTB)
InterPro IPR016130 Protein-tyrosine phosphatase, active site
InterPro IPR029021 Protein-tyrosine phosphatase-like
InterPro IPR000387 Tyrosine specific protein phosphatases domain
Protein Ontology PR:000010736 myotubularin-related protein 2
References
(Earliest) J:62647 Laporte J, et al., Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. Hum Mol Genet. 1998 Oct;7(11):1703-12
(Latest) J:195852 Xie Q, et al., Pax6 interactions with chromatin and identification of its novel direct target genes in lens and forebrain. PLoS One. 2013;8(1):e54507
All references(45)
Disease annotation references (2)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory