Atlas of Genetics and Cytogenetics in Oncology and Haematology


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MTMR2 (myotubularin related protein 2)

Identity

Alias_namesCMT4B
Alias_symbol (synonym)KIAA1073
Other aliasCMT4B1
HGNC (Hugo) MTMR2
LocusID (NCBI) 8898
Atlas_Id 56235
Location 11q21  [Link to chromosome band 11q21]
Location_base_pair Starts at 95566044 and ends at 95657371 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
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  8898  myotubularin related protein 2
AliasesCMT4B; CMT4B1
GeneCards (Weizmann)MTMR2
Ensembl hg19 (Hinxton)ENSG00000087053 [Gene_View]  chr11:95566044-95657371 [Contig_View]  MTMR2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000087053 [Gene_View]  chr11:95566044-95657371 [Contig_View]  MTMR2 [Vega]
ICGC DataPortalENSG00000087053
TCGA cBioPortalMTMR2
AceView (NCBI)MTMR2
Genatlas (Paris)MTMR2
WikiGenes8898
SOURCE (Princeton)MTMR2
Genetics Home Reference (NIH)MTMR2
Genomic and cartography
GoldenPath hg19 (UCSC)MTMR2  -     chr11:95566044-95657371 -  11q21   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MTMR2  -     11q21   [Description]    (hg38-Dec_2013)
EnsemblMTMR2 - 11q21 [CytoView hg19]  MTMR2 - 11q21 [CytoView hg38]
Mapping of homologs : NCBIMTMR2 [Mapview hg19]  MTMR2 [Mapview hg38]
OMIM601382   603557   
Gene and transcription
Genbank (Entrez)-
RefSeq transcript (Entrez)NM_001243571 NM_016156 NM_201278 NM_201281
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MTMR2
Cluster EST : UnigeneHs.181326 [ NCBI ]
CGAP (NCI)Hs.181326
Alternative Splicing GalleryENSG00000087053
Gene ExpressionMTMR2 [ NCBI-GEO ]   MTMR2 [ EBI - ARRAY_EXPRESS ]   MTMR2 [ SEEK ]   MTMR2 [ MEM ]
Gene Expression Viewer (FireBrowse)MTMR2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8898
GTEX Portal (Tissue expression)MTMR2
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
Splice isoforms : SwissVarQ13614
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_dom-like    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
DMDM Disease mutations8898
Blocks (Seattle)MTMR2
PDB (SRS)1LW3    1M7R    1ZSQ    1ZVR   
PDB (PDBSum)1LW3    1M7R    1ZSQ    1ZVR   
PDB (IMB)1LW3    1M7R    1ZSQ    1ZVR   
PDB (RSDB)1LW3    1M7R    1ZSQ    1ZVR   
Structural Biology KnowledgeBase1LW3    1M7R    1ZSQ    1ZVR   
SCOP (Structural Classification of Proteins)1LW3    1M7R    1ZSQ    1ZVR   
CATH (Classification of proteins structures)1LW3    1M7R    1ZSQ    1ZVR   
SuperfamilyQ13614
Human Protein AtlasENSG00000087053
Peptide AtlasQ13614
HPRD04650
IPIIPI00014307   IPI01011209   IPI00398737   IPI00917592   
Protein Interaction databases
DIP (DOE-UCLA)Q13614
IntAct (EBI)Q13614
FunCoupENSG00000087053
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  cytosol  cytosol  cytosol  protein dephosphorylation  phosphatidylinositol biosynthetic process  synaptic vesicle  protein tyrosine/serine/threonine phosphatase activity  postsynaptic density  axon  dendrite  negative regulation of myelination  early endosome membrane  myelin assembly  peptidyl-tyrosine dephosphorylation  protein homodimerization activity  dendritic spine  negative regulation of endocytosis  inositol phosphate dephosphorylation  phosphatidylinositol dephosphorylation  neuron development  protein tetramerization  phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity  phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity  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  cytosol  cytosol  cytosol  protein dephosphorylation  phosphatidylinositol biosynthetic process  synaptic vesicle  protein tyrosine/serine/threonine phosphatase activity  postsynaptic density  axon  dendrite  negative regulation of myelination  early endosome membrane  myelin assembly  peptidyl-tyrosine dephosphorylation  protein homodimerization activity  dendritic spine  negative regulation of endocytosis  inositol phosphate dephosphorylation  phosphatidylinositol dephosphorylation  neuron development  protein tetramerization  phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity  phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity  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
HOVERGENQ13614
HOGENOMQ13614
Homologs : HomoloGeneMTMR2
Homology/Alignments : Family Browser (UCSC)MTMR2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMTMR2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MTMR2
dbVarMTMR2
ClinVarMTMR2
1000_GenomesMTMR2 
Exome Variant ServerMTMR2
ExAC (Exome Aggregation Consortium)MTMR2 (select the gene name)
Genetic variants : HAPMAP8898
Genomic Variants (DGV)MTMR2 [DGVbeta]
DECIPHER (Syndromes)11:95566044-95657371  ENSG00000087053
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]  
Mutations and Diseases : HGMDMTMR2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MTMR2
DgiDB (Drug Gene Interaction Database)MTMR2
DoCM (Curated mutations)MTMR2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MTMR2 (select a term)
intoGenMTMR2
Cancer3DMTMR2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601382    603557   
Orphanet14528   
MedgenMTMR2
Genetic Testing Registry MTMR2
NextProtQ13614 [Medical]
TSGene8898
GENETestsMTMR2
Huge Navigator MTMR2 [HugePedia]
snp3D : Map Gene to Disease8898
BioCentury BCIQMTMR2
ClinGenMTMR2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8898
Chemical/Pharm GKB GenePA31253
Clinical trialMTMR2
Miscellaneous
canSAR (ICR)MTMR2 (select the gene name)
Probes
Litterature
PubMed38 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMTMR2
EVEXMTMR2
GoPubMedMTMR2
iHOPMTMR2
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 : Tue Mar 14 13:17:36 CET 2017

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