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TMEM50A (transmembrane protein 50A)

Identity

Alias_symbol (synonym)SMP1
Other aliasIFNRC
HGNC (Hugo) TMEM50A
LocusID (NCBI) 23585
Atlas_Id 74951
Location 1p36.11  [Link to chromosome band 1p36]
Location_base_pair Starts at 25664789 and ends at 25688852 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
PLXNA2 (1q32.2) / TMEM50A (1p36.11)TMEM50A (1p36.11) / TMEM50A (1p36.11)TMEM50A (1p36.11) / ZNF407 (18q22.3)

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)TMEM50A   30590
Cards
Entrez_Gene (NCBI)TMEM50A  23585  transmembrane protein 50A
AliasesIFNRC; SMP1
GeneCards (Weizmann)TMEM50A
Ensembl hg19 (Hinxton)ENSG00000183726 [Gene_View]  chr1:25664789-25688852 [Contig_View]  TMEM50A [Vega]
Ensembl hg38 (Hinxton)ENSG00000183726 [Gene_View]  chr1:25664789-25688852 [Contig_View]  TMEM50A [Vega]
ICGC DataPortalENSG00000183726
TCGA cBioPortalTMEM50A
AceView (NCBI)TMEM50A
Genatlas (Paris)TMEM50A
WikiGenes23585
SOURCE (Princeton)TMEM50A
Genetics Home Reference (NIH)TMEM50A
Genomic and cartography
GoldenPath hg19 (UCSC)TMEM50A  -     chr1:25664789-25688852 +  1p36.11   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)TMEM50A  -     1p36.11   [Description]    (hg38-Dec_2013)
EnsemblTMEM50A - 1p36.11 [CytoView hg19]  TMEM50A - 1p36.11 [CytoView hg38]
Mapping of homologs : NCBITMEM50A [Mapview hg19]  TMEM50A [Mapview hg38]
OMIM605348   
Gene and transcription
Genbank (Entrez)AF081282 AF087880 AI968279 AK299180 AK311092
RefSeq transcript (Entrez)NM_014313
RefSeq genomic (Entrez)NC_000001 NC_018912 NT_032977 NW_004929289
Consensus coding sequences : CCDS (NCBI)TMEM50A
Cluster EST : UnigeneHs.705699 [ NCBI ]
CGAP (NCI)Hs.705699
Alternative Splicing GalleryENSG00000183726
Gene ExpressionTMEM50A [ NCBI-GEO ]   TMEM50A [ EBI - ARRAY_EXPRESS ]   TMEM50A [ SEEK ]   TMEM50A [ MEM ]
Gene Expression Viewer (FireBrowse)TMEM50A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23585
GTEX Portal (Tissue expression)TMEM50A
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95807   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO95807  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95807
Splice isoforms : SwissVarO95807
PhosPhoSitePlusO95807
Domains : Interpro (EBI)UPF0220   
Domain families : Pfam (Sanger)UPF0220 (PF05255)   
Domain families : Pfam (NCBI)pfam05255   
Conserved Domain (NCBI)TMEM50A
DMDM Disease mutations23585
Blocks (Seattle)TMEM50A
SuperfamilyO95807
Human Protein AtlasENSG00000183726
Peptide AtlasO95807
HPRD05636
IPIIPI00000612   IPI00385141   
Protein Interaction databases
DIP (DOE-UCLA)O95807
IntAct (EBI)O95807
FunCoupENSG00000183726
BioGRIDTMEM50A
STRING (EMBL)TMEM50A
ZODIACTMEM50A
Ontologies - Pathways
QuickGOO95807
Ontology : AmiGOendoplasmic reticulum  integral component of membrane  
Ontology : EGO-EBIendoplasmic reticulum  integral component of membrane  
NDEx NetworkTMEM50A
Atlas of Cancer Signalling NetworkTMEM50A
Wikipedia pathwaysTMEM50A
Orthology - Evolution
OrthoDB23585
GeneTree (enSembl)ENSG00000183726
Phylogenetic Trees/Animal Genes : TreeFamTMEM50A
HOVERGENO95807
HOGENOMO95807
Homologs : HomoloGeneTMEM50A
Homology/Alignments : Family Browser (UCSC)TMEM50A
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTMEM50A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TMEM50A
dbVarTMEM50A
ClinVarTMEM50A
1000_GenomesTMEM50A 
Exome Variant ServerTMEM50A
ExAC (Exome Aggregation Consortium)TMEM50A (select the gene name)
Genetic variants : HAPMAP23585
Genomic Variants (DGV)TMEM50A [DGVbeta]
DECIPHER (Syndromes)1:25664789-25688852  ENSG00000183726
CONAN: Copy Number AnalysisTMEM50A 
Mutations
ICGC Data PortalTMEM50A 
TCGA Data PortalTMEM50A 
Broad Tumor PortalTMEM50A
OASIS PortalTMEM50A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTMEM50A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTMEM50A
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 TMEM50A
DgiDB (Drug Gene Interaction Database)TMEM50A
DoCM (Curated mutations)TMEM50A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TMEM50A (select a term)
intoGenTMEM50A
Cancer3DTMEM50A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605348   
Orphanet
MedgenTMEM50A
Genetic Testing Registry TMEM50A
NextProtO95807 [Medical]
TSGene23585
GENETestsTMEM50A
Huge Navigator TMEM50A [HugePedia]
snp3D : Map Gene to Disease23585
BioCentury BCIQTMEM50A
ClinGenTMEM50A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23585
Chemical/Pharm GKB GenePA142670766
Clinical trialTMEM50A
Miscellaneous
canSAR (ICR)TMEM50A (select the gene name)
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTMEM50A
EVEXTMEM50A
GoPubMedTMEM50A
iHOPTMEM50A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:48:59 CET 2017

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