Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

MTMR2

contributors: mct/pgu - updated : 20-12-2016

HGNC name	myotubularin related protein 2
HGNC id	7450

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CMT4B1 Charcot-Marie-Tooth disease, type 4B1
Location	11q21      Physical location : 95.566.045 - 95.657.371
Synonym symbol(s)	KIAA1073, CMT4B1
EC.number	3.1.3.48

DNA

TYPE	functioning gene
STRUCTURE	91.33 kb     15 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

text	variants 2 and 3 encode the same protein

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_016156 15 - 4603 73.2 643 - 2003 14690594 NM_201278 17 - 4797 65.8 571 - 2003 14690594 NM_201281 16 - 4674 65.8 571 - 2003 14690594

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular vessels aorta       Endocrine neuroendocrine pituitary     highly Nervous brain diencephalon hypothalamus       ganglia sensory ganglia dorsal root     Reproductive male system testis     highly Respiratory respiratory tract trachea     highly Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central       Homo sapiens Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Homo sapiens Reproductive epithelial cell

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal PH-GRAM domain that has been implicated as a PIP-binding module and is predicted to be critical for MTMR2 subcellular localization
	ba SID (SET-interacting) domain
	a tyrosine-protein phosphatase domain
	and PDZ binding domain

HOMOLOGY

interspecies	ortholog to murine Mtmr2
	homolog to C.elegans y110a7a.5

intraspecies

homolog to myotubularin protein 2

Homologene

FAMILY	myotubulin-like family
	myotubularin family of dual specificity protein phosphatase

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,cytosolic,granule
	intracellular,cytoplasm,cytosolic,vesicle
	intracellular,nucleus
text	cytoplasmic in Schwann cells and axons from peripheral nerves and roots (in sensory and motorneurons)
	nuclear only in Schwann cells and in motoneurons
	localized to excitatory synapses of central neurons via direct interaction with DLG4, a postsynaptic scaffolding protein abundant at excitatory synapses
	MTMR2 localization was predominantly cytoplasmic
	unphosphorylated form of MTMR2 preferentially localizes to endocytic-like vesicles

basic FUNCTION	protein tyrosine phosphatase dephosphorylating PI(3.5)- P2 and PI(3)- P
	may regulate vesicular trafficking in Schwann cells
	MTMR2 and SBF2 play critical roles in the sorting and modulation of cellular signalling which are likely to be disturbed in CMT4B
	its reversible phosphorylation represents a critical mechanism for regulating the subcellular localization of MTMR2

CELLULAR PROCESS

protein, post translation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

complex MTMR2/SBF2 involved in the regulation of MTMR2 activity

INTERACTION

DNA

RNA

small molecule

protein	with NEFL in both Schwann cells and neurons
	interacts with homodimeric inactive SBF2 in a tetrameric complex
	in Schwann cells, interacts with Discs large 1 (DLG1), a scaffold involved in polarized trafficking and membrane addition, whose localization in MTMR2-null nerves is altered
	DLG4-interacting MTMR2 contributes to the maintenance of excitatory synapses by inhibiting excessive endosome formation and destructive endosomal traffic to lysosomes
	interacts with the catalytically inactive MTMR proteins, MTMR5 and MTMR13, and the coiled-coiled regions of the MTMR proteins are required for this interaction
	localization of DNAJC13 to endosomal compartments is spatially mediated by PI(3)P binding and temporally regulated by MTMR2 activity
	COMMD1/CCDC22/CCDC93 regulates the phosphorylation and endosomal recruitment of the PI(3)P phosphatase MTMR2

cell & other

REGULATION

Other	multi-level regulation of myotubularin-related protein-2 phosphatase activity by SBF2
	phosphorylation is likely to be a critical mechanism by which MTMR2 access to its lipid substrate(s) is temporally and spatially regulated, thereby contributing to the control of downstream endosome maturation event

ASSOCIATED DISORDERS

corresponding disease(s)

CMT4B1

related resource

Mutation Database of Inherited Peripheral Neuropathies

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS