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TMEM53 (transmembrane protein 53)

Identity

Alias_symbol (synonym)FLJ22353
NET4
Other alias
HGNC (Hugo) TMEM53
LocusID (NCBI) 79639
Atlas_Id 74955
Location 1p34.1  [Link to chromosome band 1p34]
Location_base_pair Starts at 44653247 and ends at 44674608 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)
PYGB (20p11.21) / TMEM53 (1p34.1)TMEM53 (1p34.1) / EIF2B3 (1p34.1)

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)TMEM53   26186
Cards
Entrez_Gene (NCBI)TMEM53  79639  transmembrane protein 53
AliasesNET4
GeneCards (Weizmann)TMEM53
Ensembl hg19 (Hinxton)ENSG00000126106 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000126106 [Gene_View]  chr1:44653247-44674608 [Contig_View]  TMEM53 [Vega]
ICGC DataPortalENSG00000126106
TCGA cBioPortalTMEM53
AceView (NCBI)TMEM53
Genatlas (Paris)TMEM53
WikiGenes79639
SOURCE (Princeton)TMEM53
Genetics Home Reference (NIH)TMEM53
Genomic and cartography
GoldenPath hg38 (UCSC)TMEM53  -     chr1:44653247-44674608 -  1p34.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TMEM53  -     1p34.1   [Description]    (hg19-Feb_2009)
EnsemblTMEM53 - 1p34.1 [CytoView hg19]  TMEM53 - 1p34.1 [CytoView hg38]
Mapping of homologs : NCBITMEM53 [Mapview hg19]  TMEM53 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AA490195 AK026006 AK225405 AK295356 AK296548
RefSeq transcript (Entrez)NM_001300746 NM_001300747 NM_001300748 NM_024587
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TMEM53
Cluster EST : UnigeneHs.22157 [ NCBI ]
CGAP (NCI)Hs.22157
Alternative Splicing GalleryENSG00000126106
Gene ExpressionTMEM53 [ NCBI-GEO ]   TMEM53 [ EBI - ARRAY_EXPRESS ]   TMEM53 [ SEEK ]   TMEM53 [ MEM ]
Gene Expression Viewer (FireBrowse)TMEM53 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79639
GTEX Portal (Tissue expression)TMEM53
Human Protein AtlasENSG00000126106-TMEM53 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6P2H8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6P2H8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6P2H8
Splice isoforms : SwissVarQ6P2H8
PhosPhoSitePlusQ6P2H8
Domains : Interpro (EBI)AB_hydrolase    DUF829_TMEM53   
Domain families : Pfam (Sanger)DUF829 (PF05705)   
Domain families : Pfam (NCBI)pfam05705   
Conserved Domain (NCBI)TMEM53
DMDM Disease mutations79639
Blocks (Seattle)TMEM53
SuperfamilyQ6P2H8
Human Protein Atlas [tissue]ENSG00000126106-TMEM53 [tissue]
Peptide AtlasQ6P2H8
HPRD07989
IPIIPI00418344   IPI00844053   IPI00514252   IPI00513915   IPI00514102   IPI00514939   IPI00644487   
Protein Interaction databases
DIP (DOE-UCLA)Q6P2H8
IntAct (EBI)Q6P2H8
FunCoupENSG00000126106
BioGRIDTMEM53
STRING (EMBL)TMEM53
ZODIACTMEM53
Ontologies - Pathways
QuickGOQ6P2H8
Ontology : AmiGOnucleus  integral component of membrane  
Ontology : EGO-EBInucleus  integral component of membrane  
NDEx NetworkTMEM53
Atlas of Cancer Signalling NetworkTMEM53
Wikipedia pathwaysTMEM53
Orthology - Evolution
OrthoDB79639
GeneTree (enSembl)ENSG00000126106
Phylogenetic Trees/Animal Genes : TreeFamTMEM53
HOVERGENQ6P2H8
HOGENOMQ6P2H8
Homologs : HomoloGeneTMEM53
Homology/Alignments : Family Browser (UCSC)TMEM53
Gene fusions - Rearrangements
Tumor Fusion PortalTMEM53
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTMEM53 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TMEM53
dbVarTMEM53
ClinVarTMEM53
1000_GenomesTMEM53 
Exome Variant ServerTMEM53
ExAC (Exome Aggregation Consortium)ENSG00000126106
GNOMAD BrowserENSG00000126106
Genetic variants : HAPMAP79639
Genomic Variants (DGV)TMEM53 [DGVbeta]
DECIPHERTMEM53 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTMEM53 
Mutations
ICGC Data PortalTMEM53 
TCGA Data PortalTMEM53 
Broad Tumor PortalTMEM53
OASIS PortalTMEM53 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTMEM53  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTMEM53
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch TMEM53
DgiDB (Drug Gene Interaction Database)TMEM53
DoCM (Curated mutations)TMEM53 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TMEM53 (select a term)
intoGenTMEM53
Cancer3DTMEM53(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETTMEM53
MedgenTMEM53
Genetic Testing Registry TMEM53
NextProtQ6P2H8 [Medical]
TSGene79639
GENETestsTMEM53
Target ValidationTMEM53
Huge Navigator TMEM53 [HugePedia]
snp3D : Map Gene to Disease79639
BioCentury BCIQTMEM53
ClinGenTMEM53
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79639
Chemical/Pharm GKB GenePA142670769
Clinical trialTMEM53
Miscellaneous
canSAR (ICR)TMEM53 (select the gene name)
Probes
Litterature
PubMed7 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTMEM53
EVEXTMEM53
GoPubMedTMEM53
iHOPTMEM53
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Tue Nov 21 13:03:26 CET 2017

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