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MTMR14 (myotubularin related protein 14)

Identity

Alias (NCBI)C3orf29
HGNC (Hugo) MTMR14
HGNC Alias symbFLJ22405
FLJ90311
hJumpy
hEDTP
HGNC Alias nameegg-derived tyrosine phosphatase homolog (Drosophila)
HGNC Previous nameC3orf29
HGNC Previous namechromosome 3 open reading frame 29
LocusID (NCBI) 64419
Atlas_Id 54478
Location 3p25.3  [Link to chromosome band 3p25]
Location_base_pair Starts at 9649505 and ends at 9702393 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

 



External links

 

Nomenclature
HGNC (Hugo)MTMR14   26190
Cards
Entrez_Gene (NCBI)MTMR14    myotubularin related protein 14
AliasesC3orf29
GeneCards (Weizmann)MTMR14
Ensembl hg19 (Hinxton)ENSG00000163719 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000163719 [Gene_View]  ENSG00000163719 [Sequence]  chr3:9649505-9702393 [Contig_View]  MTMR14 [Vega]
ICGC DataPortalENSG00000163719
TCGA cBioPortalMTMR14
AceView (NCBI)MTMR14
Genatlas (Paris)MTMR14
SOURCE (Princeton)MTMR14
Genetics Home Reference (NIH)MTMR14
Genomic and cartography
GoldenPath hg38 (UCSC)MTMR14  -     chr3:9649505-9702393 +  3p25.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MTMR14  -     3p25.3   [Description]    (hg19-Feb_2009)
GoldenPathMTMR14 - 3p25.3 [CytoView hg19]  MTMR14 - 3p25.3 [CytoView hg38]
ImmunoBaseENSG00000163719
Genome Data Viewer NCBIMTMR14 [Mapview hg19]  
OMIM160150   611089   
Gene and transcription
Genbank (Entrez)AF289603 AK021608 AK026058 AK074792 AK128312
RefSeq transcript (Entrez)NM_001077525 NM_001077526 NM_022485
Consensus coding sequences : CCDS (NCBI)MTMR14
Gene ExpressionMTMR14 [ NCBI-GEO ]   MTMR14 [ EBI - ARRAY_EXPRESS ]   MTMR14 [ SEEK ]   MTMR14 [ MEM ]
Gene Expression Viewer (FireBrowse)MTMR14 [ Firebrowse - Broad ]
GenevisibleExpression of MTMR14 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
Catalytic activity : Enzyme3.1.3.- [ Enzyme-Expasy ]   3.1.3.-3.1.3.- [ IntEnz-EBI ]   3.1.3.- [ BRENDA ]   3.1.3.- [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusQ8NCE2
Domains : Interpro (EBI)MTMR14    MTMR14_PH-GRAM    Prot-tyrosine_phosphatase-like    Tyr_Pase_AS   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)MTMR14
SuperfamilyQ8NCE2
AlphaFold pdb e-kbQ8NCE2   
Human Protein Atlas [tissue]ENSG00000163719-MTMR14 [tissue]
HPRD08654
Protein Interaction databases
DIP (DOE-UCLA)Q8NCE2
IntAct (EBI)Q8NCE2
BioGRIDMTMR14
STRING (EMBL)MTMR14
ZODIACMTMR14
Ontologies - Pathways
QuickGOQ8NCE2
Ontology : AmiGOruffle  phosphatidylinositol-3-phosphatase activity  phosphatidylinositol-3-phosphatase activity  protein tyrosine phosphatase activity  protein binding  cytosol  phosphatidylinositol biosynthetic process  macroautophagy  peptidyl-tyrosine dephosphorylation  perinuclear region of cytoplasm  
Ontology : EGO-EBIruffle  phosphatidylinositol-3-phosphatase activity  phosphatidylinositol-3-phosphatase activity  protein tyrosine phosphatase activity  protein binding  cytosol  phosphatidylinositol biosynthetic process  macroautophagy  peptidyl-tyrosine dephosphorylation  perinuclear region of cytoplasm  
NDEx NetworkMTMR14
Atlas of Cancer Signalling NetworkMTMR14
Wikipedia pathwaysMTMR14
Orthology - Evolution
OrthoDB64419
GeneTree (enSembl)ENSG00000163719
Phylogenetic Trees/Animal Genes : TreeFamMTMR14
Homologs : HomoloGeneMTMR14
Homology/Alignments : Family Browser (UCSC)MTMR14
Gene fusions - Rearrangements
Fusion : MitelmanFANCD2/MTMR14 [3p25.3/3p25.3]  
Fusion : MitelmanTTLL3/MTMR14 [3p25.3/3p25.3]  
Fusion : QuiverMTMR14
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMTMR14 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MTMR14
dbVarMTMR14
ClinVarMTMR14
MonarchMTMR14
1000_GenomesMTMR14 
Exome Variant ServerMTMR14
GNOMAD BrowserENSG00000163719
Varsome BrowserMTMR14
ACMGMTMR14 variants
VarityQ8NCE2
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]  
Somatic Mutations in Cancer : COSMIC3DMTMR14
Mutations and Diseases : HGMDMTMR14
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaMTMR14
DgiDB (Drug Gene Interaction Database)MTMR14
DoCM (Curated mutations)MTMR14
CIViC (Clinical Interpretations of Variants in Cancer)MTMR14
Cancer3DMTMR14
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM160150    611089   
Orphanet17834   
DisGeNETMTMR14
MedgenMTMR14
Genetic Testing Registry MTMR14
NextProtQ8NCE2 [Medical]
GENETestsMTMR14
Target ValidationMTMR14
Huge Navigator MTMR14 [HugePedia]
ClinGenMTMR14
Clinical trials, drugs, therapy
MyCancerGenomeMTMR14
Protein Interactions : CTDMTMR14
Pharm GKB GenePA162396265
PharosQ8NCE2
Clinical trialMTMR14
Miscellaneous
canSAR (ICR)MTMR14
HarmonizomeMTMR14
DataMed IndexMTMR14
Probes
Litterature
PubMed34 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXMTMR14
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:21:32 CEST 2021

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