MTMR2
entrez
8898
canonical
uniprot
Q13614
canonical
ensembl
ENSG00000087053
resolver
ensp
ENSP00000343737
resolver
ensp
ENSP00000345752
resolver
ensp
ENSP00000386882
resolver
ensp
ENSP00000501601
resolver
ensp
ENSP00000501640
resolver
ensp
ENSP00000501675
resolver
ensp
ENSP00000501702
resolver
ensp
ENSP00000501781
resolver
ensp
ENSP00000501850
resolver
ensp
ENSP00000501942
resolver
ensp
ENSP00000502032
resolver
ensp
ENSP00000502057
resolver
ensp
ENSP00000502388
resolver
ensp
ENSP00000502405
resolver
ensp
ENSP00000502505
resolver
ensp
ENSP00000502515
resolver
ensp
ENSP00000502567
resolver
ensp
ENSP00000502722
resolver
ensp
ENSP00000502824
resolver
enst
ENST00000675022
resolver
enst
ENST00000675288
resolver
enst
ENST00000675438
resolver
enst
ENST00000675660
resolver
enst
ENST00000675807
resolver
enst
ENST00000675848
resolver
enst
ENST00000676027
resolver
genesymbol
MTMR2
resolver
genesymbol_syn
KIAA1073
resolver
hgnc
HGNC:7450
resolver
uniprot
A0A6Q8PGS5
resolver
uniprot
A0A6Q8PHL9
resolver
uniprot
A0A6Q8PHS7
resolver
uniprot
A6NN98
resolver
uniprot
Q9UPS9
resolver
uniprot_entry
A0A6Q8PGS5_HUMAN
resolver
uniprot_entry
A0A6Q8PHL9_HUMAN
resolver
uniprot_entry
A0A6Q8PHS7_HUMAN
resolver
uniprot_entry
MTMR2_HUMAN
resolver
uniprot_sec
A6NN98
resolver
uniprot_sec
Q9UPS9
resolver
amino_acid_sequence
MEKSSSCESLGSQPAAARPPSVDSLSSASTSHSENSVHTKSASVVSSDSISTSADNFSPDLRVLRESNKLAEMEEPPLLPGENIKDMAKDVTYICPFTGAVRGTLTVTNYRLYFKSMERDPPFVLDASLGVINRVEKIGGASSRGENSYGLETVCKDIRNLRFAHKPEGRTRRSIFENLMKYAFPVSNNLPLFAFEYKEVFPENGWKLYDPLLEYRRQGIPNESWRITKINERYELCDTYPALLVVPANIPDEELKRVASFRSRGRIPVLSWIHPESQATITRCSQPMVGVSGKRSKEDEKYLQAIMDSNAQSHKIFIFDARPSVNAVANKAKGGGYESEDAYQNAELVFLDIHNIHVMRESLRKLKEIVYPNIEETHWLSNLESTHWLEHIKLILAGALRIADKVESGKTSVVVHCSDGWDRTAQLTSLAMLMLDGYYRTIRGFEVLVEKEWLSFGHRFQLRVGHGDKNHADADRSPVFLQFIDCVWQMTRQFPTAFEFNEYFLITILDHLYSCLFGTFLCNSEQQRGKENLPKRTVSLWSYINSQLEDFTNPLYGSYSNHVLYPVASMRHLELWVGYYIRWNPRMKPQEPIHNRYKELLAKRAELQKKVEELQREISNRSTSSSERASSPAQCVTPVQTVV
uniprot
proteins
disease_involvement
DISEASE: Charcot-Marie-Tooth disease, demyelinating, type 4B1 (CMT4B1) [MIM:601382]: A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. {ECO:0000269|PubMed:10802647, ECO:0000269|PubMed:12398840}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.3.95
uniprot
proteins
function
FUNCTION: Lipid phosphatase that specifically dephosphorylates the D-3 position of phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate, generating phosphatidylinositol and phosphatidylinositol 5-phosphate (PubMed:11733541, PubMed:12668758, PubMed:14690594, PubMed:21372139). Regulates the level of these phosphoinositides critical for various biological processes including autophagy initiation and autophagosome maturation (PubMed:35580604). {ECO:0000269|PubMed:11733541, ECO:0000269|PubMed:12668758, ECO:0000269|PubMed:14690594, ECO:0000269|PubMed:21372139, ECO:0000269|PubMed:35580604}.
uniprot
proteins
mass_dalton
73381
uniprot
proteins
mutagenesis
MUTAGEN 330; /note="N->D: Decreased phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity. Decreased phosphatidylinositol-3-phosphate phosphatase activity."; /evidence="ECO:0000269|PubMed:14690594"; MUTAGEN 357; /note="H->N: Decreased phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity. Decreased phosphatidylinositol-3-phosphate phosphatase activity."; /evidence="ECO:0000269|PubMed:14690594"; MUTAGEN 417; /note="C->S: Loss of phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity. Loss of phosphatidylinositol-3-phosphate phosphatase activity."; /evidence="ECO:0000269|PubMed:14690594"; MUTAGEN 419; /note="D->A: No effect on phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity. Decreased phosphatidylinositol-3-phosphate phosphatase activity."; /evidence="ECO:0000269|PubMed:14690594"; MUTAGEN 422; /note="D->A: Loss of phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity. Loss of phosphatidylinositol-3-phosphate phosphatase activity."; /evidence="ECO:0000269|PubMed:14690594"; MUTAGEN 589..643; /note="Missing: Loss of homodimerization. Loss of interaction with SBF1."; /evidence="ECO:0000269|PubMed:12668758"; MUTAGEN 607; /note="L->Y: Decreased homodimerization. Decreased interaction with SBF1."; /evidence="ECO:0000269|PubMed:12668758
uniprot
proteins
post_translational_modification
PTM: Phosphorylation at Ser-58 decreases MTMR2 localization to endocytic vesicular structures. {ECO:0000269|PubMed:21372139}.
uniprot
proteins
protein_family
Non-receptor class myotubularin subfamily
uniprot
proteins
protein_family
Protein-tyrosine phosphatase family
uniprot
proteins
pubmed
10470851
uniprot
proteins
pubmed
10802647
uniprot
proteins
pubmed
11733541
uniprot
proteins
pubmed
12398840
uniprot
proteins
pubmed
12668758
uniprot
proteins
pubmed
12847286
uniprot
proteins
pubmed
14690594
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15998640
uniprot
proteins
pubmed
16410353
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21372139
uniprot
proteins
pubmed
34718573
uniprot
proteins
pubmed
35580604
uniprot
proteins
pubmed
8640223
uniprot
proteins
pubmed
9736772
uniprot
proteins
sequence_length
643
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11733541, ECO:0000269|PubMed:12668758, ECO:0000269|PubMed:15998640}. Early endosome membrane {ECO:0000269|PubMed:15998640, ECO:0000269|PubMed:21372139}; Peripheral membrane protein {ECO:0000269|PubMed:15998640, ECO:0000269|PubMed:21372139}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:12668758}. Cell projection, axon {ECO:0000250|UniProtKB:Q9Z2D1}. Endosome membrane {ECO:0000250|UniProtKB:Q9Z2D1}; Peripheral membrane protein {ECO:0000305}. Note=Partly associated with membranes (PubMed:12668758, PubMed:15998640, PubMed:21372139). Localizes to vacuoles in hypo-osmotic conditions (By similarity). {ECO:0000250|UniProtKB:Q9Z2D1, ECO:0000269|PubMed:12668758, ECO:0000269|PubMed:15998640, ECO:0000269|PubMed:21372139}.
uniprot
proteins