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Gene Ontology Classifications
Symbol
Name
ID
Mtmr2
myotubularin related protein 2
MGI:1924366

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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]



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Gene Ontology Evidence Code Abbreviations:

Experimental:
EXP
Inferred from experiment
IDA
Inferred from direct assay
IEP
Inferred from expression pattern
IGI
Inferred from genetic interaction
IMP
Inferred from mutant phenotype
IPI
Inferred from physical interaction
Homology:
IAS
Inferred from ancestral sequence
IBA
Inferred from biological aspect of ancestor
IBD
Inferred from biological aspect of descendant
IKR
Inferred from key residues
IMR
Inferred from missing residues
IRD
Inferred from rapid divergence
ISA
Inferred from sequence alignment
ISM
Inferred from sequence model
ISO
Inferred from sequence orthology
ISS
Inferred from sequence or structural similarity
Automated:
IEA
Inferred from electronic annotation
RCA
Reviewed computational analysis
Other:
IC
Inferred by curator
NAS
Non-traceable author statement
ND
No biological data available
TAS
Traceable author statement

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Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory