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TMEM127 (transmembrane protein 127)

Identity

Alias (NCBI)-
HGNC (Hugo) TMEM127
HGNC Alias symbFLJ20507
FLJ22257
LocusID (NCBI) 55654
Atlas_Id 51455
Location 2q11.2  [Link to chromosome band 2q11]
Location_base_pair Starts at 96248514 and ends at 96265997 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)
FRY (13q13.1) / TMEM127 (2q11.2)GLG1 (16q23.1) / TMEM127 (2q11.2)TMEM127 (2q11.2) / STAM (10p12.33)
TMEM127 (2q11.2) / UPK1B (3q13.32)TMEM127 2q11.2 / STAM 10p12.33

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  Head and Neck: Paraganglioma: an overview
t(2;10)(q11;p12) TMEM127/STAM

Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Hereditary paraganglioma (PGL)

External links

Nomenclature
HGNC (Hugo)TMEM127   26038
LRG (Locus Reference Genomic)LRG_528
Cards
Entrez_Gene (NCBI)TMEM127    transmembrane protein 127
Aliases
GeneCards (Weizmann)TMEM127
Ensembl hg19 (Hinxton)ENSG00000135956 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000135956 [Gene_View]  ENSG00000135956 [Sequence]  chr2:96248514-96265997 [Contig_View]  TMEM127 [Vega]
ICGC DataPortalENSG00000135956
TCGA cBioPortalTMEM127
AceView (NCBI)TMEM127
Genatlas (Paris)TMEM127
SOURCE (Princeton)TMEM127
Genetics Home Reference (NIH)TMEM127
Genomic and cartography
GoldenPath hg38 (UCSC)TMEM127  -     chr2:96248514-96265997 -  2q11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TMEM127  -     2q11.2   [Description]    (hg19-Feb_2009)
GoldenPathTMEM127 - 2q11.2 [CytoView hg19]  TMEM127 - 2q11.2 [CytoView hg38]
ImmunoBaseENSG00000135956
genome Data Viewer NCBITMEM127 [Mapview hg19]  
OMIM171300   613403   
Gene and transcription
Genbank (Entrez)AK000514 AK025910 AK293276 AL117494 AL117581
RefSeq transcript (Entrez)NM_001193304 NM_017849 NM_032218
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TMEM127
Alternative Splicing GalleryENSG00000135956
Gene ExpressionTMEM127 [ NCBI-GEO ]   TMEM127 [ EBI - ARRAY_EXPRESS ]   TMEM127 [ SEEK ]   TMEM127 [ MEM ]
Gene Expression Viewer (FireBrowse)TMEM127 [ Firebrowse - Broad ]
GenevisibleExpression of TMEM127 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55654
GTEX Portal (Tissue expression)TMEM127
Human Protein AtlasENSG00000135956-TMEM127 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75204   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75204  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75204
Splice isoforms : SwissVarO75204
PhosPhoSitePlusO75204
Domains : Interpro (EBI)TMEM127   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)TMEM127
Blocks (Seattle)TMEM127
SuperfamilyO75204
Human Protein Atlas [tissue]ENSG00000135956-TMEM127 [tissue]
Peptide AtlasO75204
HPRD07917
IPIIPI00016455   IPI00386215   IPI00927741   
Protein Interaction databases
DIP (DOE-UCLA)O75204
IntAct (EBI)O75204
BioGRIDTMEM127
STRING (EMBL)TMEM127
ZODIACTMEM127
Ontologies - Pathways
QuickGOO75204
Ontology : AmiGOmolecular_function  cytoplasm  early endosome  plasma membrane  endosome organization  negative regulation of cell proliferation  membrane  integral component of membrane  Rab GTPase binding  regulation of TOR signaling  negative regulation of TOR signaling  
Ontology : EGO-EBImolecular_function  cytoplasm  early endosome  plasma membrane  endosome organization  negative regulation of cell proliferation  membrane  integral component of membrane  Rab GTPase binding  regulation of TOR signaling  negative regulation of TOR signaling  
NDEx NetworkTMEM127
Atlas of Cancer Signalling NetworkTMEM127
Wikipedia pathwaysTMEM127
Orthology - Evolution
OrthoDB55654
GeneTree (enSembl)ENSG00000135956
Phylogenetic Trees/Animal Genes : TreeFamTMEM127
HOGENOMO75204
Homologs : HomoloGeneTMEM127
Homology/Alignments : Family Browser (UCSC)TMEM127
Gene fusions - Rearrangements
Fusion : MitelmanTMEM127/STAM [2q11.2/10p12.33]  
Fusion PortalTMEM127 2q11.2 STAM 10p12.33 BLCA
Fusion : QuiverTMEM127
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTMEM127 [hg38]
dbVarTMEM127
ClinVarTMEM127
MonarchTMEM127
1000_GenomesTMEM127 
Exome Variant ServerTMEM127
GNOMAD BrowserENSG00000135956
Varsome BrowserTMEM127
Genomic Variants (DGV)TMEM127 [DGVbeta]
DECIPHERTMEM127 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTMEM127 
Mutations
ICGC Data PortalTMEM127 
TCGA Data PortalTMEM127 
Broad Tumor PortalTMEM127
OASIS PortalTMEM127 [ Somatic mutations - Copy number]
Cancer Gene: CensusTMEM127 
Somatic Mutations in Cancer : COSMICTMEM127  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTMEM127
Mutations and Diseases : HGMDTMEM127
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 TMEM127
DgiDB (Drug Gene Interaction Database)TMEM127
DoCM (Curated mutations)TMEM127 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TMEM127 (select a term)
intoGenTMEM127
Cancer3DTMEM127(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM171300    613403   
Orphanet21639    8775   
DisGeNETTMEM127
MedgenTMEM127
Genetic Testing Registry TMEM127
NextProtO75204 [Medical]
GENETestsTMEM127
Target ValidationTMEM127
Huge Navigator TMEM127 [HugePedia]
ClinGenTMEM127
Clinical trials, drugs, therapy
MyCancerGenomeTMEM127
Protein Interactions : CTD
Pharm GKB GenePA143485647
PharosO75204
Clinical trialTMEM127
Miscellaneous
canSAR (ICR)TMEM127 (select the gene name)
HarmonizomeTMEM127
DataMed IndexTMEM127
Probes
Litterature
PubMed29 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTMEM127
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Jan 1 18:41:28 CET 2021
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