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MTMR8 (myotubularin related protein 8)

Identity

Alias_symbol (synonym)FLJ20126
Other alias-
HGNC (Hugo) MTMR8
LocusID (NCBI) 55613
Atlas_Id 70561
Location Xq11.2  [Link to chromosome band Xq11]
Location_base_pair Starts at 63487961 and ends at 63615333 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
MTMR8 (Xq11.2) / MTMR8 (Xq11.2)

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

 


External links

Nomenclature
HGNC (Hugo)MTMR8   16825
Cards
Entrez_Gene (NCBI)MTMR8  55613  myotubularin related protein 8
Aliases
GeneCards (Weizmann)MTMR8
Ensembl hg19 (Hinxton)ENSG00000102043 [Gene_View]  chrX:63487961-63615333 [Contig_View]  MTMR8 [Vega]
Ensembl hg38 (Hinxton)ENSG00000102043 [Gene_View]  chrX:63487961-63615333 [Contig_View]  MTMR8 [Vega]
ICGC DataPortalENSG00000102043
TCGA cBioPortalMTMR8
AceView (NCBI)MTMR8
Genatlas (Paris)MTMR8
WikiGenes55613
SOURCE (Princeton)MTMR8
Genetics Home Reference (NIH)MTMR8
Genomic and cartography
GoldenPath hg19 (UCSC)MTMR8  -     chrX:63487961-63615333 -  Xq11.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MTMR8  -     Xq11.2   [Description]    (hg38-Dec_2013)
EnsemblMTMR8 - Xq11.2 [CytoView hg19]  MTMR8 - Xq11.2 [CytoView hg38]
Mapping of homologs : NCBIMTMR8 [Mapview hg19]  MTMR8 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK000133 AK225231 BC012399 DA691850
RefSeq transcript (Entrez)NM_017677
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_016567 NT_011651 NW_004929443
Consensus coding sequences : CCDS (NCBI)MTMR8
Cluster EST : UnigeneHs.442892 [ NCBI ]
CGAP (NCI)Hs.442892
Alternative Splicing GalleryENSG00000102043
Gene ExpressionMTMR8 [ NCBI-GEO ]   MTMR8 [ EBI - ARRAY_EXPRESS ]   MTMR8 [ SEEK ]   MTMR8 [ MEM ]
Gene Expression Viewer (FireBrowse)MTMR8 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55613
GTEX Portal (Tissue expression)MTMR8
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96EF0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96EF0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96EF0
Splice isoforms : SwissVarQ96EF0
PhosPhoSitePlusQ96EF0
Domaine pattern : Prosite (Expaxy)PPASE_MYOTUBULARIN (PS51339)    TYR_PHOSPHATASE_1 (PS00383)   
Domains : Interpro (EBI)MTMR8    Myotubularin-like_Pase_dom    Myotubularin_fam    Prot-tyrosine_phosphatase-like    Tyr_Pase_AS   
Domain families : Pfam (Sanger)Myotub-related (PF06602)   
Domain families : Pfam (NCBI)pfam06602   
Conserved Domain (NCBI)MTMR8
DMDM Disease mutations55613
Blocks (Seattle)MTMR8
SuperfamilyQ96EF0
Human Protein AtlasENSG00000102043
Peptide AtlasQ96EF0
HPRD06664
IPIIPI00153020   IPI00002596   IPI00298157   
Protein Interaction databases
DIP (DOE-UCLA)Q96EF0
IntAct (EBI)Q96EF0
FunCoupENSG00000102043
BioGRIDMTMR8
STRING (EMBL)MTMR8
ZODIACMTMR8
Ontologies - Pathways
QuickGOQ96EF0
Ontology : AmiGOphosphatidylinositol-3-phosphatase activity  protein tyrosine phosphatase activity  nuclear envelope  regulation of autophagy  peptidyl-tyrosine dephosphorylation  phosphatidylinositol dephosphorylation  phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity  
Ontology : EGO-EBIphosphatidylinositol-3-phosphatase activity  protein tyrosine phosphatase activity  nuclear envelope  regulation of autophagy  peptidyl-tyrosine dephosphorylation  phosphatidylinositol dephosphorylation  phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity  
NDEx NetworkMTMR8
Atlas of Cancer Signalling NetworkMTMR8
Wikipedia pathwaysMTMR8
Orthology - Evolution
OrthoDB55613
GeneTree (enSembl)ENSG00000102043
Phylogenetic Trees/Animal Genes : TreeFamMTMR8
HOVERGENQ96EF0
HOGENOMQ96EF0
Homologs : HomoloGeneMTMR8
Homology/Alignments : Family Browser (UCSC)MTMR8
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMTMR8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MTMR8
dbVarMTMR8
ClinVarMTMR8
1000_GenomesMTMR8 
Exome Variant ServerMTMR8
ExAC (Exome Aggregation Consortium)MTMR8 (select the gene name)
Genetic variants : HAPMAP55613
Genomic Variants (DGV)MTMR8 [DGVbeta]
DECIPHER (Syndromes)X:63487961-63615333  ENSG00000102043
CONAN: Copy Number AnalysisMTMR8 
Mutations
ICGC Data PortalMTMR8 
TCGA Data PortalMTMR8 
Broad Tumor PortalMTMR8
OASIS PortalMTMR8 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMTMR8  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMTMR8
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
BioMutasearch MTMR8
DgiDB (Drug Gene Interaction Database)MTMR8
DoCM (Curated mutations)MTMR8 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MTMR8 (select a term)
intoGenMTMR8
Cancer3DMTMR8(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenMTMR8
Genetic Testing Registry MTMR8
NextProtQ96EF0 [Medical]
TSGene55613
GENETestsMTMR8
Huge Navigator MTMR8 [HugePedia]
snp3D : Map Gene to Disease55613
BioCentury BCIQMTMR8
ClinGenMTMR8
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55613
Chemical/Pharm GKB GenePA134942633
Clinical trialMTMR8
Miscellaneous
canSAR (ICR)MTMR8 (select the gene name)
Probes
Litterature
PubMed7 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMTMR8
EVEXMTMR8
GoPubMedMTMR8
iHOPMTMR8
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:34:06 CET 2017

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