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MTMR4 (myotubularin related protein 4)

Identity

Alias_symbol (synonym)KIAA0647
ZFYVE11
Other aliasFYVE-DSP2
HGNC (Hugo) MTMR4
LocusID (NCBI) 9110
Atlas_Id 52888
Location 17q22  [Link to chromosome band 17q22]
Location_base_pair Starts at 58489532 and ends at 58517890 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
MTMR4 (17q22) / ABR (17p13.3)MTMR4 (17q22) / INSR (19p13.2)TANC1 (2q24.2) / MTMR4 (17q22)
MTMR4 17q22 / INSR 19p13.2

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)MTMR4   7452
Cards
Entrez_Gene (NCBI)MTMR4  9110  myotubularin related protein 4
AliasesFYVE-DSP2; ZFYVE11
GeneCards (Weizmann)MTMR4
Ensembl hg19 (Hinxton)ENSG00000108389 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000108389 [Gene_View]  chr17:58489532-58517890 [Contig_View]  MTMR4 [Vega]
ICGC DataPortalENSG00000108389
TCGA cBioPortalMTMR4
AceView (NCBI)MTMR4
Genatlas (Paris)MTMR4
WikiGenes9110
SOURCE (Princeton)MTMR4
Genetics Home Reference (NIH)MTMR4
Genomic and cartography
GoldenPath hg38 (UCSC)MTMR4  -     chr17:58489532-58517890 -  17q22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MTMR4  -     17q22   [Description]    (hg19-Feb_2009)
EnsemblMTMR4 - 17q22 [CytoView hg19]  MTMR4 - 17q22 [CytoView hg38]
Mapping of homologs : NCBIMTMR4 [Mapview hg19]  MTMR4 [Mapview hg38]
OMIM603559   
Gene and transcription
Genbank (Entrez)AB014547 AF264717 AI538945 AK308877 BC035609
RefSeq transcript (Entrez)NM_004687
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MTMR4
Cluster EST : UnigeneHs.514373 [ NCBI ]
CGAP (NCI)Hs.514373
Alternative Splicing GalleryENSG00000108389
Gene ExpressionMTMR4 [ NCBI-GEO ]   MTMR4 [ EBI - ARRAY_EXPRESS ]   MTMR4 [ SEEK ]   MTMR4 [ MEM ]
Gene Expression Viewer (FireBrowse)MTMR4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9110
GTEX Portal (Tissue expression)MTMR4
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NYA4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NYA4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NYA4
Splice isoforms : SwissVarQ9NYA4
Catalytic activity : Enzyme3.1.3.48 [ Enzyme-Expasy ]   3.1.3.483.1.3.48 [ IntEnz-EBI ]   3.1.3.48 [ BRENDA ]   3.1.3.48 [ KEGG ]   
PhosPhoSitePlusQ9NYA4
Domaine pattern : Prosite (Expaxy)PPASE_MYOTUBULARIN (PS51339)    TYR_PHOSPHATASE_1 (PS00383)    TYR_PHOSPHATASE_2 (PS50056)    ZF_FYVE (PS50178)   
Domains : Interpro (EBI)MTMR4    Myotubularin-like_Pase_dom    Myotubularin_fam    PH_dom-like    Prot-tyrosine_phosphatase-like    Tyr_Pase_AS    TYR_PHOSPHATASE_dom    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)  
Conserved Domain (NCBI)MTMR4
DMDM Disease mutations9110
Blocks (Seattle)MTMR4
SuperfamilyQ9NYA4
Human Protein AtlasENSG00000108389
Peptide AtlasQ9NYA4
HPRD11945
IPIIPI00292693   
Protein Interaction databases
DIP (DOE-UCLA)Q9NYA4
IntAct (EBI)Q9NYA4
FunCoupENSG00000108389
BioGRIDMTMR4
STRING (EMBL)MTMR4
ZODIACMTMR4
Ontologies - Pathways
QuickGOQ9NYA4
Ontology : AmiGOphosphatidylinositol-3-phosphatase activity  protein serine/threonine phosphatase activity  protein tyrosine phosphatase activity  protein binding  extracellular space  cytosol  protein dephosphorylation  phosphatidylinositol biosynthetic process  transforming growth factor beta receptor signaling pathway  response to denervation involved in regulation of muscle adaptation  negative regulation of transforming growth factor beta receptor signaling pathway  early endosome membrane  peptidyl-tyrosine dephosphorylation  metal ion binding  phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity  
Ontology : EGO-EBIphosphatidylinositol-3-phosphatase activity  protein serine/threonine phosphatase activity  protein tyrosine phosphatase activity  protein binding  extracellular space  cytosol  protein dephosphorylation  phosphatidylinositol biosynthetic process  transforming growth factor beta receptor signaling pathway  response to denervation involved in regulation of muscle adaptation  negative regulation of transforming growth factor beta receptor signaling pathway  early endosome membrane  peptidyl-tyrosine dephosphorylation  metal ion binding  phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity  
NDEx NetworkMTMR4
Atlas of Cancer Signalling NetworkMTMR4
Wikipedia pathwaysMTMR4
Orthology - Evolution
OrthoDB9110
GeneTree (enSembl)ENSG00000108389
Phylogenetic Trees/Animal Genes : TreeFamMTMR4
HOVERGENQ9NYA4
HOGENOMQ9NYA4
Homologs : HomoloGeneMTMR4
Homology/Alignments : Family Browser (UCSC)MTMR4
Gene fusions - Rearrangements
Fusion : MitelmanMTMR4/INSR [17q22/19p13.2]  
Fusion : MitelmanTANC1/MTMR4 [2q24.2/17q22]  [t(2;17)(q24;q22)]  
Fusion: TCGAMTMR4 17q22 INSR 19p13.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMTMR4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MTMR4
dbVarMTMR4
ClinVarMTMR4
1000_GenomesMTMR4 
Exome Variant ServerMTMR4
ExAC (Exome Aggregation Consortium)MTMR4 (select the gene name)
Genetic variants : HAPMAP9110
Genomic Variants (DGV)MTMR4 [DGVbeta]
DECIPHERMTMR4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMTMR4 
Mutations
ICGC Data PortalMTMR4 
TCGA Data PortalMTMR4 
Broad Tumor PortalMTMR4
OASIS PortalMTMR4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMTMR4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMTMR4
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 MTMR4
DgiDB (Drug Gene Interaction Database)MTMR4
DoCM (Curated mutations)MTMR4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MTMR4 (select a term)
intoGenMTMR4
Cancer3DMTMR4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603559   
Orphanet
MedgenMTMR4
Genetic Testing Registry MTMR4
NextProtQ9NYA4 [Medical]
TSGene9110
GENETestsMTMR4
Target ValidationMTMR4
Huge Navigator MTMR4 [HugePedia]
snp3D : Map Gene to Disease9110
BioCentury BCIQMTMR4
ClinGenMTMR4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9110
Chemical/Pharm GKB GenePA31255
Clinical trialMTMR4
Miscellaneous
canSAR (ICR)MTMR4 (select the gene name)
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMTMR4
EVEXMTMR4
GoPubMedMTMR4
iHOPMTMR4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:08:21 CEST 2017

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