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TMEM50B (transmembrane protein 50B)

Identity

Alias (NCBI)C21orf4
HCVP7TP3
HGNC (Hugo) TMEM50B
HGNC Previous nameC21orf4
HGNC Previous namechromosome 21 open reading frame 4
LocusID (NCBI) 757
Atlas_Id 74952
Location 21q22.11  [Link to chromosome band 21q22]
Location_base_pair Starts at 33449141 and ends at 33479974 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    transmembrane protein 50B
AliasesC21orf4; HCVP7TP3
GeneCards (Weizmann)TMEM50B
Ensembl hg19 (Hinxton)ENSG00000142188 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000142188 [Gene_View]  ENSG00000142188 [Sequence]  chr21:33449141-33479974 [Contig_View]  TMEM50B [Vega]
ICGC DataPortalENSG00000142188
TCGA cBioPortalTMEM50B
AceView (NCBI)TMEM50B
Genatlas (Paris)TMEM50B
SOURCE (Princeton)TMEM50B
Genetics Home Reference (NIH)TMEM50B
Genomic and cartography
GoldenPath hg38 (UCSC)TMEM50B  -     chr21:33449141-33479974 -  21q22.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TMEM50B  -     21q22.11   [Description]    (hg19-Feb_2009)
GoldenPathTMEM50B - 21q22.11 [CytoView hg19]  TMEM50B - 21q22.11 [CytoView hg38]
ImmunoBaseENSG00000142188
Genome Data Viewer NCBITMEM50B [Mapview hg19]  
OMIM617894   
Gene and transcription
Genbank (Entrez)AF045606 AF086280 AK129657 AK309977 AK310701
RefSeq transcript (Entrez)NM_006134
Consensus coding sequences : CCDS (NCBI)TMEM50B
Gene ExpressionTMEM50B [ NCBI-GEO ]   TMEM50B [ EBI - ARRAY_EXPRESS ]   TMEM50B [ SEEK ]   TMEM50B [ MEM ]
Gene Expression Viewer (FireBrowse)TMEM50B [ Firebrowse - Broad ]
GenevisibleExpression of TMEM50B 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
PhosPhoSitePlusP56557
Domains : Interpro (EBI)UPF0220   
Domain families : Pfam (Sanger)UPF0220 (PF05255)   
Domain families : Pfam (NCBI)pfam05255   
Conserved Domain (NCBI)TMEM50B
SuperfamilyP56557
AlphaFold pdb e-kbP56557   
Human Protein Atlas [tissue]ENSG00000142188-TMEM50B [tissue]
HPRD10747
Protein Interaction databases
DIP (DOE-UCLA)P56557
IntAct (EBI)P56557
BioGRIDTMEM50B
STRING (EMBL)TMEM50B
ZODIACTMEM50B
Ontologies - Pathways
QuickGOP56557
Ontology : AmiGOGolgi membrane  molecular_function  protein binding  endoplasmic reticulum  endoplasmic reticulum membrane  plasma membrane  biological_process  integral component of membrane  late endosome to vacuole transport via multivesicular body sorting pathway  
Ontology : EGO-EBIGolgi membrane  molecular_function  protein binding  endoplasmic reticulum  endoplasmic reticulum membrane  plasma membrane  biological_process  integral component of membrane  late endosome to vacuole transport via multivesicular body sorting pathway  
NDEx NetworkTMEM50B
Atlas of Cancer Signalling NetworkTMEM50B
Wikipedia pathwaysTMEM50B
Orthology - Evolution
OrthoDB757
GeneTree (enSembl)ENSG00000142188
Phylogenetic Trees/Animal Genes : TreeFamTMEM50B
Homologs : HomoloGeneTMEM50B
Homology/Alignments : Family Browser (UCSC)TMEM50B
Gene fusions - Rearrangements
Fusion : QuiverTMEM50B
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTMEM50B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TMEM50B
dbVarTMEM50B
ClinVarTMEM50B
MonarchTMEM50B
1000_GenomesTMEM50B 
Exome Variant ServerTMEM50B
GNOMAD BrowserENSG00000142188
Varsome BrowserTMEM50B
ACMGTMEM50B variants
VarityP56557
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]  
Somatic Mutations in Cancer : COSMIC3DTMEM50B
Mutations and Diseases : HGMDTMEM50B
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTMEM50B
DgiDB (Drug Gene Interaction Database)TMEM50B
DoCM (Curated mutations)TMEM50B
CIViC (Clinical Interpretations of Variants in Cancer)TMEM50B
Cancer3DTMEM50B
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM617894   
Orphanet
DisGeNETTMEM50B
MedgenTMEM50B
Genetic Testing Registry TMEM50B
NextProtP56557 [Medical]
GENETestsTMEM50B
Target ValidationTMEM50B
Huge Navigator TMEM50B [HugePedia]
ClinGenTMEM50B
Clinical trials, drugs, therapy
MyCancerGenomeTMEM50B
Protein Interactions : CTDTMEM50B
Pharm GKB GenePA25835
PharosP56557
Clinical trialTMEM50B
Miscellaneous
canSAR (ICR)TMEM50B
HarmonizomeTMEM50B
DataMed IndexTMEM50B
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTMEM50B
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 16:26:16 CEST 2021

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