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MTMR3 (myotubularin related protein 3)

Identity

Alias_symbol (synonym)KIAA0371
ZFYVE10
FYVE-DSP1
Other alias
HGNC (Hugo) MTMR3
LocusID (NCBI) 8897
Atlas_Id 47037
Location 22q12.2  [Link to chromosome band 22q12]
Location_base_pair Starts at 29883169 and ends at 30030868 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)
HIRA (22q11.21) / MTMR3 (22q12.2)LOC286467 () / MTMR3 (22q12.2)MTMR3 (22q12.2) / APOH (17q24.2)
MTMR3 (22q12.2) / BRWD1 (21q22.2)MTMR3 (22q12.2) / GJB1 (Xq13.1)MTMR3 (22q12.2) / HEXIM2 (17q21.31)
MTMR3 (22q12.2) / HIRA (22q11.21)MTMR3 (22q12.2) / RNF215 (22q12.2)MTMR3 (22q12.2) / SCNN1B (16p12.2)
MTMR3 22q12.2 / RNF215 22q12.2MTMR3 22q12.2 / SCNN1B 16p12.2

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 4 ]
  t(X;22)(q13;q12) MTMR3/GJB1
t(16;22)(p12;q12) MTMR3/SCNN1B
t(17;22)(q21;q12) MTMR3/HEXIM2
MTMR3/RNF215 (22q12)

External links

Nomenclature
HGNC (Hugo)MTMR3   7451
Cards
Entrez_Gene (NCBI)MTMR3  8897  myotubularin related protein 3
AliasesFYVE-DSP1; ZFYVE10
GeneCards (Weizmann)MTMR3
Ensembl hg19 (Hinxton)ENSG00000100330 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100330 [Gene_View]  ENSG00000100330 [Sequence]  chr22:29883169-30030868 [Contig_View]  MTMR3 [Vega]
ICGC DataPortalENSG00000100330
TCGA cBioPortalMTMR3
AceView (NCBI)MTMR3
Genatlas (Paris)MTMR3
WikiGenes8897
SOURCE (Princeton)MTMR3
Genetics Home Reference (NIH)MTMR3
Genomic and cartography
GoldenPath hg38 (UCSC)MTMR3  -     chr22:29883169-30030868 +  22q12.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MTMR3  -     22q12.2   [Description]    (hg19-Feb_2009)
GoldenPathMTMR3 - 22q12.2 [CytoView hg19]  MTMR3 - 22q12.2 [CytoView hg38]
ImmunoBaseENSG00000100330
Mapping of homologs : NCBIMTMR3 [Mapview hg19]  MTMR3 [Mapview hg38]
OMIM603558   
Gene and transcription
Genbank (Entrez)AB002369 AF233436 AF233437 AF233438 AK056895
RefSeq transcript (Entrez)NM_001013676 NM_021090 NM_153050 NM_153051
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MTMR3
Cluster EST : UnigeneHs.474536 [ NCBI ]
CGAP (NCI)Hs.474536
Alternative Splicing GalleryENSG00000100330
Gene ExpressionMTMR3 [ NCBI-GEO ]   MTMR3 [ EBI - ARRAY_EXPRESS ]   MTMR3 [ SEEK ]   MTMR3 [ MEM ]
Gene Expression Viewer (FireBrowse)MTMR3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8897
GTEX Portal (Tissue expression)MTMR3
Human Protein AtlasENSG00000100330-MTMR3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13615   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13615  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13615
Splice isoforms : SwissVarQ13615
PhosPhoSitePlusQ13615
Domaine pattern : Prosite (Expaxy)PPASE_MYOTUBULARIN (PS51339)    TYR_PHOSPHATASE_1 (PS00383)    ZF_FYVE (PS50178)   
Domains : Interpro (EBI)MTMR3_PH-GRAM    Myotubularin-like_Pase_dom    Myotubularin_fam    Prot-tyrosine_phosphatase-like    Tyr_Pase_AS    Tyr_Pase_cat    Znf_FYVE    Znf_FYVE-rel    Znf_FYVE_PHD    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)FYVE (PF01363)    Myotub-related (PF06602)   
Domain families : Pfam (NCBI)pfam01363    pfam06602   
Domain families : Smart (EMBL)FYVE (SM00064)  PTPc_motif (SM00404)  
Conserved Domain (NCBI)MTMR3
DMDM Disease mutations8897
Blocks (Seattle)MTMR3
SuperfamilyQ13615
Human Protein Atlas [tissue]ENSG00000100330-MTMR3 [tissue]
Peptide AtlasQ13615
HPRD09151
IPIIPI00185018   IPI00171273   IPI00171274   IPI00892878   IPI00892979   IPI00892621   
Protein Interaction databases
DIP (DOE-UCLA)Q13615
IntAct (EBI)Q13615
FunCoupENSG00000100330
BioGRIDMTMR3
STRING (EMBL)MTMR3
ZODIACMTMR3
Ontologies - Pathways
QuickGOQ13615
Ontology : AmiGOphosphatidylinositol-3-phosphatase activity  phosphatidylinositol-3-phosphatase activity  protein serine/threonine phosphatase activity  protein serine/threonine phosphatase activity  protein tyrosine phosphatase activity  protein binding  cytoplasm  cytosol  protein dephosphorylation  phosphatidylinositol biosynthetic process  membrane  macroautophagy  extrinsic component of membrane  protein phosphatase binding  peptidyl-tyrosine dephosphorylation  cellular response to glucose starvation  phosphatidylinositol dephosphorylation  metal ion binding  phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity  phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity  regulation of phosphatidylinositol dephosphorylation  phosphatidylinositol 5-phosphate metabolic process  regulation of autophagosome assembly  
Ontology : EGO-EBIphosphatidylinositol-3-phosphatase activity  phosphatidylinositol-3-phosphatase activity  protein serine/threonine phosphatase activity  protein serine/threonine phosphatase activity  protein tyrosine phosphatase activity  protein binding  cytoplasm  cytosol  protein dephosphorylation  phosphatidylinositol biosynthetic process  membrane  macroautophagy  extrinsic component of membrane  protein phosphatase binding  peptidyl-tyrosine dephosphorylation  cellular response to glucose starvation  phosphatidylinositol dephosphorylation  metal ion binding  phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity  phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity  regulation of phosphatidylinositol dephosphorylation  phosphatidylinositol 5-phosphate metabolic process  regulation of autophagosome assembly  
NDEx NetworkMTMR3
Atlas of Cancer Signalling NetworkMTMR3
Wikipedia pathwaysMTMR3
Orthology - Evolution
OrthoDB8897
GeneTree (enSembl)ENSG00000100330
Phylogenetic Trees/Animal Genes : TreeFamMTMR3
HOGENOMQ13615
Homologs : HomoloGeneMTMR3
Homology/Alignments : Family Browser (UCSC)MTMR3
Gene fusions - Rearrangements
Fusion : MitelmanMTMR3/GJB1 [22q12.2/Xq13.1]  
Fusion : MitelmanMTMR3/HEXIM2 [22q12.2/17q21.31]  [t(17;22)(q21;q12)]  
Fusion : MitelmanMTMR3/RNF215 [22q12.2/22q12.2]  [t(22;22)(q12;q12)]  
Fusion : MitelmanMTMR3/SCNN1B [22q12.2/16p12.2]  [t(16;22)(p12;q12)]  
Fusion PortalMTMR3 22q12.2 RNF215 22q12.2 LUSC
Fusion PortalMTMR3 22q12.2 SCNN1B 16p12.2 LUAD
Fusion : QuiverMTMR3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMTMR3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MTMR3
dbVarMTMR3
ClinVarMTMR3
1000_GenomesMTMR3 
Exome Variant ServerMTMR3
ExAC (Exome Aggregation Consortium)ENSG00000100330
GNOMAD BrowserENSG00000100330
Varsome BrowserMTMR3
Genetic variants : HAPMAP8897
Genomic Variants (DGV)MTMR3 [DGVbeta]
DECIPHERMTMR3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMTMR3 
Mutations
ICGC Data PortalMTMR3 
TCGA Data PortalMTMR3 
Broad Tumor PortalMTMR3
OASIS PortalMTMR3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMTMR3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMTMR3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MTMR3
DgiDB (Drug Gene Interaction Database)MTMR3
DoCM (Curated mutations)MTMR3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MTMR3 (select a term)
intoGenMTMR3
Cancer3DMTMR3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603558   
Orphanet
DisGeNETMTMR3
MedgenMTMR3
Genetic Testing Registry MTMR3
NextProtQ13615 [Medical]
TSGene8897
GENETestsMTMR3
Target ValidationMTMR3
Huge Navigator MTMR3 [HugePedia]
snp3D : Map Gene to Disease8897
BioCentury BCIQMTMR3
ClinGenMTMR3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8897
Chemical/Pharm GKB GenePA31254
Clinical trialMTMR3
Miscellaneous
canSAR (ICR)MTMR3 (select the gene name)
DataMed IndexMTMR3
Probes
Litterature
PubMed52 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMTMR3
EVEXMTMR3
GoPubMedMTMR3
iHOPMTMR3
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 : Fri Jun 7 18:10:21 CEST 2019
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