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

Mammalian homology

human; rat; cattle; chimpanzee; dog, domestic    (Mammalian Orthology)
Comparative Map (Mouse/Human Mtmr2 ± 2 cM)

Gene Tree: Mtmr2

Human ortholog

MTMR2 myotubularin related protein 2 NCBI Gene ID 8898
Human Synonyms: CMT4B, CMT4B1
Human Chr11:95566044-95657371 bp, - strand Reference GRCh37.p2 Primary Assembly
Human Diseases Associated with Human MTMR2 (1)

Alleles and phenotypes

All alleles(14) : Targeted(7) Gene trapped(7)
 

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 Using Mouse Mtmr2 (1)    Alleles Annotated to Human Diseases(2)   

Gene Ontology (GO) classifications

All GO classifications: (21 annotations)

Process	dephosphorylation, inositol phosphate dephosphorylation, ...
Component	cytoplasm, endosome, ...
Function	hydrolase activity, phosphatase activity, ...

External Resources: FuncBase

Expression

Literature Summary: (3 records)
Data Summary: Results (244)    Tissues (200)    Images (94)
Theiler Stages: 22, 28

Assay Type	Results
RNA in situ	94
In situ reporter (knock in)	112
RT-PCR	38

cDNA source data(61)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(63) Genomic(1) cDNA(61) 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.-
Consensus CDS Project	CCDS22818.3
International Mouse Knockout Project Status	Mtmr2

Sequences

Length	Strain/Species
genomic	OTTMUSG00000032802	VEGA Gene Model | MGI Sequence Detail	58072	C57BL/6J
transcript	OTTMUST00000081691	VEGA | MGI Sequence Detail	3788	Not Applicable
polypeptide	OTTMUSP00000043731	VEGA | MGI Sequence Detail	643	Not Applicable

All sequences(70) RefSeq(3) UniProt(7)

Polymorphisms

SNPs(154 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR004182	GRAM
InterPro	IPR017906	Myotubularin phosphatase domain
InterPro	IPR010569	Myotubularin-related
InterPro	IPR000387	Protein-tyrosine/Dual-specificity phosphatase
InterPro	IPR016130	Protein-tyrosine phosphatase, active site
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:177998 Vaccari I, et al., Genetic Interaction between MTMR2 and FIG4 Phospholipid Phosphatases Involved in Charcot-Marie-Tooth Neuropathies. PLoS Genet. 2011 Sep;7(10):e1002319
All references(45)