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MTMR2 (myotubularin related protein 2)

Identity

Alias (NCBI)CMT4B
CMT4B1
HGNC (Hugo) MTMR2
HGNC Alias symbKIAA1073
HGNC Alias namephosphatidylinositol-3-phosphatase
 phosphoinositide-3-phosphatase
HGNC Previous nameCMT4B
LocusID (NCBI) 8898
Atlas_Id 56235
Location 11q21  [Link to chromosome band 11q21]
Location_base_pair Starts at 95832880 and ends at 95924107 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ADAM2 (8p11.22) / MTMR2 (11q21)CEP57 (11q21) / MTMR2 (11q21)MTMR2 (11q21) / ATP2C1 (3q22.1)
MTMR2 (11q21) / MAML2 (11q21)RAB1B (11q13.2) / MTMR2 (11q21)SACM1L (3p21.31) / MTMR2 (11q21)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)MTMR2   7450
LRG (Locus Reference Genomic)LRG_257
Cards
Entrez_Gene (NCBI)MTMR2    myotubularin related protein 2
AliasesCMT4B; CMT4B1
GeneCards (Weizmann)MTMR2
Ensembl hg19 (Hinxton)ENSG00000087053 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000087053 [Gene_View]  ENSG00000087053 [Sequence]  chr11:95832880-95924107 [Contig_View]  MTMR2 [Vega]
ICGC DataPortalENSG00000087053
TCGA cBioPortalMTMR2
AceView (NCBI)MTMR2
Genatlas (Paris)MTMR2
SOURCE (Princeton)MTMR2
Genetics Home Reference (NIH)MTMR2
Genomic and cartography
GoldenPath hg38 (UCSC)MTMR2  -     chr11:95832880-95924107 -  11q21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MTMR2  -     11q21   [Description]    (hg19-Feb_2009)
GoldenPathMTMR2 - 11q21 [CytoView hg19]  MTMR2 - 11q21 [CytoView hg38]
ImmunoBaseENSG00000087053
Genome Data Viewer NCBIMTMR2 [Mapview hg19]  
OMIM601382   603557   
Gene and transcription
Genbank (Entrez)AB028996 AI360884 AK027038 AK291277 AK293243
RefSeq transcript (Entrez)NM_001243571 NM_016156 NM_201278 NM_201281
Consensus coding sequences : CCDS (NCBI)MTMR2
Gene ExpressionMTMR2 [ NCBI-GEO ]   MTMR2 [ EBI - ARRAY_EXPRESS ]   MTMR2 [ SEEK ]   MTMR2 [ MEM ]
Gene Expression Viewer (FireBrowse)MTMR2 [ Firebrowse - Broad ]
GenevisibleExpression of MTMR2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8898
GTEX Portal (Tissue expression)MTMR2
Human Protein AtlasENSG00000087053-MTMR2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13614   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13614  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13614
PhosPhoSitePlusQ13614
Domaine pattern : Prosite (Expaxy)PPASE_MYOTUBULARIN (PS51339)    TYR_PHOSPHATASE_1 (PS00383)    TYR_PHOSPHATASE_2 (PS50056)   
Domains : Interpro (EBI)GRAM    Myotubularin-like_Pase_dom    Myotubularin_fam    PH-like_dom_sf    Prot-tyrosine_phosphatase-like    Tyr_Pase_AS    Tyr_Pase_cat    TYR_PHOSPHATASE_dom   
Domain families : Pfam (Sanger)GRAM (PF02893)    Myotub-related (PF06602)   
Domain families : Pfam (NCBI)pfam02893    pfam06602   
Domain families : Smart (EMBL)GRAM (SM00568)  PTPc_motif (SM00404)  
Conserved Domain (NCBI)MTMR2
PDB (RSDB)1LW3    1M7R    1ZSQ    1ZVR    5GNH   
PDB Europe1LW3    1M7R    1ZSQ    1ZVR    5GNH   
PDB (PDBSum)1LW3    1M7R    1ZSQ    1ZVR    5GNH   
PDB (IMB)1LW3    1M7R    1ZSQ    1ZVR    5GNH   
Structural Biology KnowledgeBase1LW3    1M7R    1ZSQ    1ZVR    5GNH   
SCOP (Structural Classification of Proteins)1LW3    1M7R    1ZSQ    1ZVR    5GNH   
CATH (Classification of proteins structures)1LW3    1M7R    1ZSQ    1ZVR    5GNH   
SuperfamilyQ13614
AlphaFold pdb e-kbQ13614   
Human Protein Atlas [tissue]ENSG00000087053-MTMR2 [tissue]
HPRD04650
Protein Interaction databases
DIP (DOE-UCLA)Q13614
IntAct (EBI)Q13614
BioGRIDMTMR2
STRING (EMBL)MTMR2
ZODIACMTMR2
Ontologies - Pathways
QuickGOQ13614
Ontology : AmiGOnegative regulation of receptor internalization  phosphatidylinositol-3-phosphatase activity  phosphatidylinositol-3-phosphatase activity  protein tyrosine phosphatase activity  protein binding  nucleus  cytoplasm  cytoplasm  vacuolar membrane  cytosol  cytosol  cytosol  protein dephosphorylation  phosphatidylinositol biosynthetic process  synaptic vesicle  protein tyrosine/serine/threonine phosphatase activity  postsynaptic density  membrane  axon  dendrite  negative regulation of myelination  early endosome membrane  myelin assembly  peptidyl-tyrosine dephosphorylation  identical protein binding  dendritic spine  intracellular membrane-bounded organelle  negative regulation of endocytosis  inositol phosphate dephosphorylation  phosphatidylinositol dephosphorylation  phosphatidylinositol dephosphorylation  perinuclear region of cytoplasm  neuron development  phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity  phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity  regulation of phosphatidylinositol dephosphorylation  extracellular exosome  negative regulation of excitatory postsynaptic potential  synaptic membrane  dendritic spine maintenance  positive regulation of early endosome to late endosome transport  negative regulation of receptor catabolic process  
Ontology : EGO-EBInegative regulation of receptor internalization  phosphatidylinositol-3-phosphatase activity  phosphatidylinositol-3-phosphatase activity  protein tyrosine phosphatase activity  protein binding  nucleus  cytoplasm  cytoplasm  vacuolar membrane  cytosol  cytosol  cytosol  protein dephosphorylation  phosphatidylinositol biosynthetic process  synaptic vesicle  protein tyrosine/serine/threonine phosphatase activity  postsynaptic density  membrane  axon  dendrite  negative regulation of myelination  early endosome membrane  myelin assembly  peptidyl-tyrosine dephosphorylation  identical protein binding  dendritic spine  intracellular membrane-bounded organelle  negative regulation of endocytosis  inositol phosphate dephosphorylation  phosphatidylinositol dephosphorylation  phosphatidylinositol dephosphorylation  perinuclear region of cytoplasm  neuron development  phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity  phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity  regulation of phosphatidylinositol dephosphorylation  extracellular exosome  negative regulation of excitatory postsynaptic potential  synaptic membrane  dendritic spine maintenance  positive regulation of early endosome to late endosome transport  negative regulation of receptor catabolic process  
Pathways : KEGGFructose and mannose metabolism   
NDEx NetworkMTMR2
Atlas of Cancer Signalling NetworkMTMR2
Wikipedia pathwaysMTMR2
Orthology - Evolution
OrthoDB8898
GeneTree (enSembl)ENSG00000087053
Phylogenetic Trees/Animal Genes : TreeFamMTMR2
Homologs : HomoloGeneMTMR2
Homology/Alignments : Family Browser (UCSC)MTMR2
Gene fusions - Rearrangements
Fusion : QuiverMTMR2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMTMR2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MTMR2
dbVarMTMR2
ClinVarMTMR2
MonarchMTMR2
1000_GenomesMTMR2 
Exome Variant ServerMTMR2
GNOMAD BrowserENSG00000087053
Varsome BrowserMTMR2
ACMGMTMR2 variants
VarityQ13614
Genomic Variants (DGV)MTMR2 [DGVbeta]
DECIPHERMTMR2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMTMR2 
Mutations
ICGC Data PortalMTMR2 
TCGA Data PortalMTMR2 
Broad Tumor PortalMTMR2
OASIS PortalMTMR2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMTMR2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DMTMR2
Mutations and Diseases : HGMDMTMR2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaMTMR2
DgiDB (Drug Gene Interaction Database)MTMR2
DoCM (Curated mutations)MTMR2
CIViC (Clinical Interpretations of Variants in Cancer)MTMR2
Cancer3DMTMR2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601382    603557   
Orphanet14528   
DisGeNETMTMR2
MedgenMTMR2
Genetic Testing Registry MTMR2
NextProtQ13614 [Medical]
GENETestsMTMR2
Target ValidationMTMR2
Huge Navigator MTMR2 [HugePedia]
ClinGenMTMR2
Clinical trials, drugs, therapy
MyCancerGenomeMTMR2
Protein Interactions : CTDMTMR2
Pharm GKB GenePA31253
PharosQ13614
Clinical trialMTMR2
Miscellaneous
canSAR (ICR)MTMR2
HarmonizomeMTMR2
DataMed IndexMTMR2
Probes
Litterature
PubMed54 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXMTMR2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 4 15:21:32 CEST 2021

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