Mtmr2 myotubularin related protein 2 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Mtmr2provided by RGD
Official Full Name: myotubularin related protein 2provided by RGD
Primary source: RGD:1311865
See related: EnsemblRapid:ENSRNOG00000005923 AllianceGenome:RGD:1311865
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Predicted to enable identical protein binding activity; phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity; and phosphatidylinositol-3-phosphate phosphatase activity. Involved in several processes, including dendritic spine maintenance; negative regulation of excitatory postsynaptic potential; and regulation of vesicle-mediated transport. Located in several cellular components, including dendritic spine; postsynaptic density; and synaptic vesicle. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 4B1. Orthologous to human MTMR2 (myotubularin related protein 2). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in Muscle (RPKM 217.5), Heart (RPKM 191.3) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 8q12

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	8	NC_086026.1 (18899303..18949767)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	8	NC_051343.1 (10617993..10670724)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	8	NC_005107.4 (12283471..12334014)

Chromosome 8 - NC_086026.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

suggest a model in which the localization of RME-8 to endosomal compartments is spatially mediated by PI(3)P binding and temporally regulated by MTMR2 activity
Title: Receptor mediated endocytosis 8 is a novel PI(3)P binding protein regulated by myotubularin-related 2.
MTMR2 is targeted to excitatory synapses via direct interaction with PSD-95 and is important for excitatory synapse maintenance by regulating endosomal trafficking.
Title: The phosphoinositide 3-phosphatase MTMR2 interacts with PSD-95 and maintains excitatory synapses by modulating endosomal traffic.

Submit: New GeneRIF Correction

General gene information

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Markers

RH129185 (e-PCR)
- UniSTS:212493

RH129240 (e-PCR)
- UniSTS:212493

RH129330 (e-PCR)
- UniSTS:212637

RH129379 (e-PCR)
- UniSTS:212686

RH128887 (e-PCR)
- UniSTS:212195

RH129424 (e-PCR)
- UniSTS:212731

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol phosphate phosphatase activity	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-3-phosphate phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-3-phosphate phosphatase activity	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in dendritic spine maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within dephosphorylation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within myelin assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of myelination	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of excitatory postsynaptic potential	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of myelination	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of receptor catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of receptor internalization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron development	ISO Inferred from Sequence Orthology more info
involved_in phosphatidylinositol dephosphorylation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within phosphatidylinositol dephosphorylation	ISO Inferred from Sequence Orthology more info
involved_in phosphatidylinositol dephosphorylation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within phosphatidylinositol metabolic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of early endosome to late endosome transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of phosphatidylinositol dephosphorylation	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in axon	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in dendrite	IDA Inferred from Direct Assay more info	PubMed
located_in dendritic spine	IDA Inferred from Direct Assay more info	PubMed
located_in early endosome membrane	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in postsynaptic density	IDA Inferred from Direct Assay more info	PubMed
located_in synaptic membrane	IDA Inferred from Direct Assay more info	PubMed
located_in synaptic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in vacuolar membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: myotubularin-related protein 2

NP_001101593.1

EC 3.1.3.95

XP_006242584.1

EC 3.1.3.95

XP_038937267.1

EC 3.1.3.95

XP_063121396.1

EC 3.1.3.95

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_001108123.1 → NP_001101593.1 myotubularin-related protein 2

See identical proteins and their annotated locations for NP_001101593.1

Status: PROVISIONAL

Source sequence(s)

CH473993

UniProtKB/TrEMBL

A0A8I5ZQN1, A0A8I5ZTB8, A6JN73

Conserved Domains (2) summary

pfam06602
Location:202 → 528

Myotub-related; Myotubularin-like phosphatase domain

cl17171
Location:73 → 187

PH-like; Pleckstrin homology-like domain

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086026.1 Reference GRCr8

Range

18899303..18949767

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_039081339.2 → XP_038937267.1 myotubularin-related protein 2 isoform X1

UniProtKB/TrEMBL

A0A8I5ZQN1, A6JN75, D3ZA31

Conserved Domains (2) summary

pfam06602
Location:130 → 456

Myotub-related; Myotubularin-like phosphatase domain

cl17171
Location:1 → 115

PH-like; Pleckstrin homology-like domain
XM_063265326.1 → XP_063121396.1 myotubularin-related protein 2 isoform X1

UniProtKB/TrEMBL

A0A8I5ZQN1, A6JN75, D3ZA31
XM_006242522.4 → XP_006242584.1 myotubularin-related protein 2 isoform X1

See identical proteins and their annotated locations for XP_006242584.1

UniProtKB/TrEMBL

A0A8I5ZQN1, A6JN75, D3ZA31

Related

ENSRNOP00000008566.3, ENSRNOT00000008566.7

Conserved Domains (2) summary

pfam06602
Location:130 → 456

Myotub-related; Myotubularin-like phosphatase domain

cl17171
Location:1 → 115

PH-like; Pleckstrin homology-like domain