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MTMR14 (myotubularin related protein 14)

Identity

Alias_namesC3orf29
chromosome 3 open reading frame 29
Alias_symbol (synonym)FLJ22405
FLJ90311
hJumpy
hEDTP
Other alias
HGNC (Hugo) MTMR14
LocusID (NCBI) 64419
Atlas_Id 54478
Location 3p25.3  [Link to chromosome band 3p25]
Location_base_pair Starts at 9649433 and ends at 9702394 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)
FANCD2 (3p25.3) / MTMR14 (3p25.3)MTMR14 (3p25.3) / HSPE1-MOB4 (2q33.1)PABPC1 (8q22.3) / MTMR14 (3p25.3)
TTLL3 (3p25.3) / MTMR14 (3p25.3)FANCD2 3p25.3 / MTMR14 3p25.3

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) [ 1 ]
  Lung: Translocations in Adenocarcinoma


External links

Nomenclature
HGNC (Hugo)MTMR14   26190
Cards
Entrez_Gene (NCBI)MTMR14  64419  myotubularin related protein 14
AliasesC3orf29
GeneCards (Weizmann)MTMR14
Ensembl hg19 (Hinxton)ENSG00000163719 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000163719 [Gene_View]  chr3:9649433-9702394 [Contig_View]  MTMR14 [Vega]
ICGC DataPortalENSG00000163719
TCGA cBioPortalMTMR14
AceView (NCBI)MTMR14
Genatlas (Paris)MTMR14
WikiGenes64419
SOURCE (Princeton)MTMR14
Genetics Home Reference (NIH)MTMR14
Genomic and cartography
GoldenPath hg38 (UCSC)MTMR14  -     chr3:9649433-9702394 +  3p25.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MTMR14  -     3p25.3   [Description]    (hg19-Feb_2009)
EnsemblMTMR14 - 3p25.3 [CytoView hg19]  MTMR14 - 3p25.3 [CytoView hg38]
Mapping of homologs : NCBIMTMR14 [Mapview hg19]  MTMR14 [Mapview hg38]
OMIM160150   611089   
Gene and transcription
Genbank (Entrez)AF289603 AK021608 AK026058 AK074792 AK128312
RefSeq transcript (Entrez)NM_001077525 NM_001077526 NM_022485
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MTMR14
Cluster EST : UnigeneHs.475382 [ NCBI ]
CGAP (NCI)Hs.475382
Alternative Splicing GalleryENSG00000163719
Gene ExpressionMTMR14 [ NCBI-GEO ]   MTMR14 [ EBI - ARRAY_EXPRESS ]   MTMR14 [ SEEK ]   MTMR14 [ MEM ]
Gene Expression Viewer (FireBrowse)MTMR14 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)64419
GTEX Portal (Tissue expression)MTMR14
Human Protein AtlasENSG00000163719-MTMR14 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NCE2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NCE2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NCE2
Splice isoforms : SwissVarQ8NCE2
Catalytic activity : Enzyme3.1.3.- [ Enzyme-Expasy ]   3.1.3.-3.1.3.- [ IntEnz-EBI ]   3.1.3.- [ BRENDA ]   3.1.3.- [ KEGG ]   
PhosPhoSitePlusQ8NCE2
Domains : Interpro (EBI)Prot-tyrosine_phosphatase-like    Tyr_Pase_AS   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)MTMR14
DMDM Disease mutations64419
Blocks (Seattle)MTMR14
SuperfamilyQ8NCE2
Human Protein Atlas [tissue]ENSG00000163719-MTMR14 [tissue]
Peptide AtlasQ8NCE2
HPRD08654
IPIIPI00168378   IPI00384329   IPI00152391   IPI00103891   IPI00909240   IPI00909197   IPI00926229   IPI00926470   IPI00926614   IPI00926840   IPI00927096   IPI00927299   
Protein Interaction databases
DIP (DOE-UCLA)Q8NCE2
IntAct (EBI)Q8NCE2
FunCoupENSG00000163719
BioGRIDMTMR14
STRING (EMBL)MTMR14
ZODIACMTMR14
Ontologies - Pathways
QuickGOQ8NCE2
Ontology : AmiGOruffle  phosphatidylinositol-3-phosphatase activity  phosphatidylinositol-3-phosphatase activity  protein serine/threonine phosphatase activity  protein tyrosine phosphatase activity  protein binding  cytosol  phosphatidylinositol biosynthetic process  macroautophagy  peptidyl-tyrosine dephosphorylation  perinuclear region of cytoplasm  phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity  
Ontology : EGO-EBIruffle  phosphatidylinositol-3-phosphatase activity  phosphatidylinositol-3-phosphatase activity  protein serine/threonine phosphatase activity  protein tyrosine phosphatase activity  protein binding  cytosol  phosphatidylinositol biosynthetic process  macroautophagy  peptidyl-tyrosine dephosphorylation  perinuclear region of cytoplasm  phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity  
NDEx NetworkMTMR14
Atlas of Cancer Signalling NetworkMTMR14
Wikipedia pathwaysMTMR14
Orthology - Evolution
OrthoDB64419
GeneTree (enSembl)ENSG00000163719
Phylogenetic Trees/Animal Genes : TreeFamMTMR14
HOVERGENQ8NCE2
HOGENOMQ8NCE2
Homologs : HomoloGeneMTMR14
Homology/Alignments : Family Browser (UCSC)MTMR14
Gene fusions - Rearrangements
Fusion : MitelmanFANCD2/MTMR14 [3p25.3/3p25.3]  [t(3;3)(p25;p25)]  
Fusion : MitelmanTTLL3/MTMR14 [3p25.3/3p25.3]  [t(3;3)(p25;p25)]  
Fusion: TCGAFANCD2 3p25.3 MTMR14 3p25.3 BRCA
Fusion: Tumor Portal MTMR14
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMTMR14 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MTMR14
dbVarMTMR14
ClinVarMTMR14
1000_GenomesMTMR14 
Exome Variant ServerMTMR14
ExAC (Exome Aggregation Consortium)ENSG00000163719
GNOMAD BrowserENSG00000163719
Genetic variants : HAPMAP64419
Genomic Variants (DGV)MTMR14 [DGVbeta]
DECIPHERMTMR14 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMTMR14 
Mutations
ICGC Data PortalMTMR14 
TCGA Data PortalMTMR14 
Broad Tumor PortalMTMR14
OASIS PortalMTMR14 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMTMR14  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMTMR14
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 MTMR14
DgiDB (Drug Gene Interaction Database)MTMR14
DoCM (Curated mutations)MTMR14 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MTMR14 (select a term)
intoGenMTMR14
Cancer3DMTMR14(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM160150    611089   
Orphanet17834   
MedgenMTMR14
Genetic Testing Registry MTMR14
NextProtQ8NCE2 [Medical]
TSGene64419
GENETestsMTMR14
Target ValidationMTMR14
Huge Navigator MTMR14 [HugePedia]
snp3D : Map Gene to Disease64419
BioCentury BCIQMTMR14
ClinGenMTMR14
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD64419
Chemical/Pharm GKB GenePA162396265
Clinical trialMTMR14
Miscellaneous
canSAR (ICR)MTMR14 (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMTMR14
EVEXMTMR14
GoPubMedMTMR14
iHOPMTMR14
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 : Thu Nov 9 13:01:28 CET 2017

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