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TMEM50B (transmembrane protein 50B)

Identity

Alias_namesC21orf4
chromosome 21 open reading frame 4
Other aliasHCVP7TP3
HGNC (Hugo) TMEM50B
LocusID (NCBI) 757
Atlas_Id 74952
Location 21q22.11  [Link to chromosome band 21q22]
Location_base_pair Starts at 33449141 and ends at 33480009 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)
PPA1 (10q22.1) / TMEM50B (21q22.11)TBC1D5 (3p24.3) / TMEM50B (21q22.11)TMEM50B (21q22.11) / C5orf30 (5q21.1)
TMEM50B (21q22.11) / CD44 (11p13)

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)TMEM50B   1280
Cards
Entrez_Gene (NCBI)TMEM50B  757  transmembrane protein 50B
AliasesC21orf4; HCVP7TP3
GeneCards (Weizmann)TMEM50B
Ensembl hg19 (Hinxton)ENSG00000142188 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000142188 [Gene_View]  chr21:33449141-33480009 [Contig_View]  TMEM50B [Vega]
ICGC DataPortalENSG00000142188
TCGA cBioPortalTMEM50B
AceView (NCBI)TMEM50B
Genatlas (Paris)TMEM50B
WikiGenes757
SOURCE (Princeton)TMEM50B
Genetics Home Reference (NIH)TMEM50B
Genomic and cartography
GoldenPath hg38 (UCSC)TMEM50B  -     chr21:33449141-33480009 -  21q22.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TMEM50B  -     21q22.11   [Description]    (hg19-Feb_2009)
EnsemblTMEM50B - 21q22.11 [CytoView hg19]  TMEM50B - 21q22.11 [CytoView hg38]
Mapping of homologs : NCBITMEM50B [Mapview hg19]  TMEM50B [Mapview hg38]
Gene and transcription
Genbank (Entrez)AF045606 AF086280 AK129657 AK309977 AK310701
RefSeq transcript (Entrez)NM_006134
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TMEM50B
Cluster EST : UnigeneHs.655101 [ NCBI ]
CGAP (NCI)Hs.655101
Alternative Splicing GalleryENSG00000142188
Gene ExpressionTMEM50B [ NCBI-GEO ]   TMEM50B [ EBI - ARRAY_EXPRESS ]   TMEM50B [ SEEK ]   TMEM50B [ MEM ]
Gene Expression Viewer (FireBrowse)TMEM50B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)757
GTEX Portal (Tissue expression)TMEM50B
Human Protein AtlasENSG00000142188-TMEM50B [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP56557   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP56557  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP56557
Splice isoforms : SwissVarP56557
PhosPhoSitePlusP56557
Domains : Interpro (EBI)UPF0220   
Domain families : Pfam (Sanger)UPF0220 (PF05255)   
Domain families : Pfam (NCBI)pfam05255   
Conserved Domain (NCBI)TMEM50B
DMDM Disease mutations757
Blocks (Seattle)TMEM50B
SuperfamilyP56557
Human Protein Atlas [tissue]ENSG00000142188-TMEM50B [tissue]
Peptide AtlasP56557
HPRD10747
IPIIPI00010146   IPI00853421   IPI00953491   IPI00795018   IPI00879631   IPI00927405   
Protein Interaction databases
DIP (DOE-UCLA)P56557
IntAct (EBI)P56557
FunCoupENSG00000142188
BioGRIDTMEM50B
STRING (EMBL)TMEM50B
ZODIACTMEM50B
Ontologies - Pathways
QuickGOP56557
Ontology : AmiGOmolecular_function  endoplasmic reticulum  plasma membrane  biological_process  integral component of membrane  
Ontology : EGO-EBImolecular_function  endoplasmic reticulum  plasma membrane  biological_process  integral component of membrane  
NDEx NetworkTMEM50B
Atlas of Cancer Signalling NetworkTMEM50B
Wikipedia pathwaysTMEM50B
Orthology - Evolution
OrthoDB757
GeneTree (enSembl)ENSG00000142188
Phylogenetic Trees/Animal Genes : TreeFamTMEM50B
HOVERGENP56557
HOGENOMP56557
Homologs : HomoloGeneTMEM50B
Homology/Alignments : Family Browser (UCSC)TMEM50B
Gene fusions - Rearrangements
Fusion: Tumor Portal TMEM50B
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTMEM50B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TMEM50B
dbVarTMEM50B
ClinVarTMEM50B
1000_GenomesTMEM50B 
Exome Variant ServerTMEM50B
ExAC (Exome Aggregation Consortium)ENSG00000142188
GNOMAD BrowserENSG00000142188
Genetic variants : HAPMAP757
Genomic Variants (DGV)TMEM50B [DGVbeta]
DECIPHERTMEM50B [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTMEM50B 
Mutations
ICGC Data PortalTMEM50B 
TCGA Data PortalTMEM50B 
Broad Tumor PortalTMEM50B
OASIS PortalTMEM50B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTMEM50B  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTMEM50B
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch TMEM50B
DgiDB (Drug Gene Interaction Database)TMEM50B
DoCM (Curated mutations)TMEM50B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TMEM50B (select a term)
intoGenTMEM50B
Cancer3DTMEM50B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenTMEM50B
Genetic Testing Registry TMEM50B
NextProtP56557 [Medical]
TSGene757
GENETestsTMEM50B
Target ValidationTMEM50B
Huge Navigator TMEM50B [HugePedia]
snp3D : Map Gene to Disease757
BioCentury BCIQTMEM50B
ClinGenTMEM50B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD757
Chemical/Pharm GKB GenePA25835
Clinical trialTMEM50B
Miscellaneous
canSAR (ICR)TMEM50B (select the gene name)
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTMEM50B
EVEXTMEM50B
GoPubMedTMEM50B
iHOPTMEM50B
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 : Thu Nov 9 12:33:14 CET 2017

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