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TMEM50A (transmembrane protein 50A)

Identity

Alias (NCBI)IFNRC
SMP1
HGNC (Hugo) TMEM50A
HGNC Alias symbSMP1
HGNC Alias namesmall membrane protein 1
LocusID (NCBI) 23585
Atlas_Id 74951
Location 1p36.11  [Link to chromosome band 1p36]
Location_base_pair Starts at 25338334 and ends at 25362361 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)
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    transmembrane protein 50A
AliasesIFNRC; SMP1
GeneCards (Weizmann)TMEM50A
Ensembl hg19 (Hinxton)ENSG00000183726 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000183726 [Gene_View]  ENSG00000183726 [Sequence]  chr1:25338334-25362361 [Contig_View]  TMEM50A [Vega]
ICGC DataPortalENSG00000183726
TCGA cBioPortalTMEM50A
AceView (NCBI)TMEM50A
Genatlas (Paris)TMEM50A
SOURCE (Princeton)TMEM50A
Genetics Home Reference (NIH)TMEM50A
Genomic and cartography
GoldenPath hg38 (UCSC)TMEM50A  -     chr1:25338334-25362361 +  1p36.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TMEM50A  -     1p36.11   [Description]    (hg19-Feb_2009)
GoldenPathTMEM50A - 1p36.11 [CytoView hg19]  TMEM50A - 1p36.11 [CytoView hg38]
ImmunoBaseENSG00000183726
Genome Data Viewer NCBITMEM50A [Mapview hg19]  
OMIM605348   
Gene and transcription
Genbank (Entrez)AF081282 AF087880 AI968279 AK299180 AK311092
RefSeq transcript (Entrez)NM_014313
Consensus coding sequences : CCDS (NCBI)TMEM50A
Gene ExpressionTMEM50A [ NCBI-GEO ]   TMEM50A [ EBI - ARRAY_EXPRESS ]   TMEM50A [ SEEK ]   TMEM50A [ MEM ]
Gene Expression Viewer (FireBrowse)TMEM50A [ Firebrowse - Broad ]
GenevisibleExpression of TMEM50A in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23585
GTEX Portal (Tissue expression)TMEM50A
Human Protein AtlasENSG00000183726-TMEM50A [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusO95807
Domains : Interpro (EBI)UPF0220   
Domain families : Pfam (Sanger)UPF0220 (PF05255)   
Domain families : Pfam (NCBI)pfam05255   
Conserved Domain (NCBI)TMEM50A
SuperfamilyO95807
AlphaFold pdb e-kbO95807   
Human Protein Atlas [tissue]ENSG00000183726-TMEM50A [tissue]
HPRD05636
Protein Interaction databases
DIP (DOE-UCLA)O95807
IntAct (EBI)O95807
BioGRIDTMEM50A
STRING (EMBL)TMEM50A
ZODIACTMEM50A
Ontologies - Pathways
QuickGOO95807
Ontology : AmiGOprotein binding  endoplasmic reticulum  integral component of membrane  late endosome to vacuole transport via multivesicular body sorting pathway  neuronal cell body  glial cell projection  
Ontology : EGO-EBIprotein binding  endoplasmic reticulum  integral component of membrane  late endosome to vacuole transport via multivesicular body sorting pathway  neuronal cell body  glial cell projection  
NDEx NetworkTMEM50A
Atlas of Cancer Signalling NetworkTMEM50A
Wikipedia pathwaysTMEM50A
Orthology - Evolution
OrthoDB23585
GeneTree (enSembl)ENSG00000183726
Phylogenetic Trees/Animal Genes : TreeFamTMEM50A
Homologs : HomoloGeneTMEM50A
Homology/Alignments : Family Browser (UCSC)TMEM50A
Gene fusions - Rearrangements
Fusion : QuiverTMEM50A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTMEM50A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TMEM50A
dbVarTMEM50A
ClinVarTMEM50A
MonarchTMEM50A
1000_GenomesTMEM50A 
Exome Variant ServerTMEM50A
GNOMAD BrowserENSG00000183726
Varsome BrowserTMEM50A
ACMGTMEM50A variants
VarityO95807
Genomic Variants (DGV)TMEM50A [DGVbeta]
DECIPHERTMEM50A [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DTMEM50A
Mutations and Diseases : HGMDTMEM50A
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTMEM50A
DgiDB (Drug Gene Interaction Database)TMEM50A
DoCM (Curated mutations)TMEM50A
CIViC (Clinical Interpretations of Variants in Cancer)TMEM50A
Cancer3DTMEM50A
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605348   
Orphanet
DisGeNETTMEM50A
MedgenTMEM50A
Genetic Testing Registry TMEM50A
NextProtO95807 [Medical]
GENETestsTMEM50A
Target ValidationTMEM50A
Huge Navigator TMEM50A [HugePedia]
ClinGenTMEM50A
Clinical trials, drugs, therapy
MyCancerGenomeTMEM50A
Protein Interactions : CTDTMEM50A
Pharm GKB GenePA142670766
PharosO95807
Clinical trialTMEM50A
Miscellaneous
canSAR (ICR)TMEM50A
HarmonizomeTMEM50A
DataMed IndexTMEM50A
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTMEM50A
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 : Mon Oct 4 16:26:16 CEST 2021

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