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MTMR6 (myotubularin related protein 6)

Identity

Other alias-
HGNC (Hugo) MTMR6
LocusID (NCBI) 9107
Atlas_Id 70559
Location 13q12.13  [Link to chromosome band 13q12]
Location_base_pair Starts at 25246201 and ends at 25287566 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
MTMR6 (13q12.13) / KL (13q13.1)RC3H1 (1q25.1) / MTMR6 (13q12.13)ZMYM2 (13q12.11) / MTMR6 (13q12.13)

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)MTMR6   7453
Cards
Entrez_Gene (NCBI)MTMR6  9107  myotubularin related protein 6
Aliases
GeneCards (Weizmann)MTMR6
Ensembl hg19 (Hinxton)ENSG00000139505 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000139505 [Gene_View]  chr13:25246201-25287566 [Contig_View]  MTMR6 [Vega]
ICGC DataPortalENSG00000139505
TCGA cBioPortalMTMR6
AceView (NCBI)MTMR6
Genatlas (Paris)MTMR6
WikiGenes9107
SOURCE (Princeton)MTMR6
Genetics Home Reference (NIH)MTMR6
Genomic and cartography
GoldenPath hg38 (UCSC)MTMR6  -     chr13:25246201-25287566 -  13q12.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MTMR6  -     13q12.13   [Description]    (hg19-Feb_2009)
EnsemblMTMR6 - 13q12.13 [CytoView hg19]  MTMR6 - 13q12.13 [CytoView hg38]
Mapping of homologs : NCBIMTMR6 [Mapview hg19]  MTMR6 [Mapview hg38]
OMIM603561   
Gene and transcription
Genbank (Entrez)AF072928 AF406619 AK025507 AK093237 AK094082
RefSeq transcript (Entrez)NM_004685
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MTMR6
Cluster EST : UnigeneHs.643702 [ NCBI ]
CGAP (NCI)Hs.643702
Alternative Splicing GalleryENSG00000139505
Gene ExpressionMTMR6 [ NCBI-GEO ]   MTMR6 [ EBI - ARRAY_EXPRESS ]   MTMR6 [ SEEK ]   MTMR6 [ MEM ]
Gene Expression Viewer (FireBrowse)MTMR6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9107
GTEX Portal (Tissue expression)MTMR6
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y217   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y217  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y217
Splice isoforms : SwissVarQ9Y217
PhosPhoSitePlusQ9Y217
Domaine pattern : Prosite (Expaxy)PPASE_MYOTUBULARIN (PS51339)    TYR_PHOSPHATASE_1 (PS00383)   
Domains : Interpro (EBI)MTMR6    Myotubularin-like_Pase_dom    Myotubularin_fam    PH_dom-like    Prot-tyrosine_phosphatase-like    Tyr_Pase_AS    Tyr_Pase_cat   
Domain families : Pfam (Sanger)Myotub-related (PF06602)   
Domain families : Pfam (NCBI)pfam06602   
Domain families : Smart (EMBL)PTPc_motif (SM00404)  
Conserved Domain (NCBI)MTMR6
DMDM Disease mutations9107
Blocks (Seattle)MTMR6
PDB (SRS)2YF0   
PDB (PDBSum)2YF0   
PDB (IMB)2YF0   
PDB (RSDB)2YF0   
Structural Biology KnowledgeBase2YF0   
SCOP (Structural Classification of Proteins)2YF0   
CATH (Classification of proteins structures)2YF0   
SuperfamilyQ9Y217
Human Protein AtlasENSG00000139505
Peptide AtlasQ9Y217
HPRD11946
IPIIPI00329385   IPI00923409   IPI00844145   IPI01014991   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y217
IntAct (EBI)Q9Y217
FunCoupENSG00000139505
BioGRIDMTMR6
STRING (EMBL)MTMR6
ZODIACMTMR6
Ontologies - Pathways
QuickGOQ9Y217
Ontology : AmiGOphosphatidylinositol-3-phosphatase activity  protein serine/threonine phosphatase activity  protein tyrosine phosphatase activity  protein binding  nuclear envelope  cytoplasm  cytosol  protein dephosphorylation  phosphatidylinositol biosynthetic process  calcium-activated potassium channel activity  peptidyl-tyrosine dephosphorylation  phosphatidylinositol dephosphorylation  phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity  potassium ion transmembrane transport  
Ontology : EGO-EBIphosphatidylinositol-3-phosphatase activity  protein serine/threonine phosphatase activity  protein tyrosine phosphatase activity  protein binding  nuclear envelope  cytoplasm  cytosol  protein dephosphorylation  phosphatidylinositol biosynthetic process  calcium-activated potassium channel activity  peptidyl-tyrosine dephosphorylation  phosphatidylinositol dephosphorylation  phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity  potassium ion transmembrane transport  
Pathways : KEGGFructose and mannose metabolism   
NDEx NetworkMTMR6
Atlas of Cancer Signalling NetworkMTMR6
Wikipedia pathwaysMTMR6
Orthology - Evolution
OrthoDB9107
GeneTree (enSembl)ENSG00000139505
Phylogenetic Trees/Animal Genes : TreeFamMTMR6
HOVERGENQ9Y217
HOGENOMQ9Y217
Homologs : HomoloGeneMTMR6
Homology/Alignments : Family Browser (UCSC)MTMR6
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMTMR6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MTMR6
dbVarMTMR6
ClinVarMTMR6
1000_GenomesMTMR6 
Exome Variant ServerMTMR6
ExAC (Exome Aggregation Consortium)MTMR6 (select the gene name)
Genetic variants : HAPMAP9107
Genomic Variants (DGV)MTMR6 [DGVbeta]
DECIPHERMTMR6 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMTMR6 
Mutations
ICGC Data PortalMTMR6 
TCGA Data PortalMTMR6 
Broad Tumor PortalMTMR6
OASIS PortalMTMR6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMTMR6  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMTMR6
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 MTMR6
DgiDB (Drug Gene Interaction Database)MTMR6
DoCM (Curated mutations)MTMR6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MTMR6 (select a term)
intoGenMTMR6
Cancer3DMTMR6(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603561   
Orphanet
MedgenMTMR6
Genetic Testing Registry MTMR6
NextProtQ9Y217 [Medical]
TSGene9107
GENETestsMTMR6
Target ValidationMTMR6
Huge Navigator MTMR6 [HugePedia]
snp3D : Map Gene to Disease9107
BioCentury BCIQMTMR6
ClinGenMTMR6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9107
Chemical/Pharm GKB GenePA31256
Clinical trialMTMR6
Miscellaneous
canSAR (ICR)MTMR6 (select the gene name)
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMTMR6
EVEXMTMR6
GoPubMedMTMR6
iHOPMTMR6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:31:27 CEST 2017

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