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TMED5 (transmembrane p24 trafficking protein 5)

Identity

Alias_namestransmembrane emp24 protein transport domain containing 5
Alias_symbol (synonym)CGI-100
p24g2
p24gamma2
Other aliasp28
HGNC (Hugo) TMED5
LocusID (NCBI) 50999
Atlas_Id 56056
Location 1p22.1  [Link to chromosome band 1p22]
Location_base_pair Starts at 93149742 and ends at 93180689 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)
AIF1 (6p21.33) / TMED5 (1p22.1)PRCC (1q23.1) / TMED5 (1p22.1)TMED5 (1p22.1) / ADORA3 (1p13.2)
TMED5 (1p22.1) / HFM1 (1p22.2)TMED5 (1p22.1) / R3HDM1 (2q21.3)

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  t(1;1)(p13;p22) TMED5/ADORA3
TMED5/HFM1 (1p22)
t(1;1)(p22;q23) PRCC/TMED5

External links

Nomenclature
HGNC (Hugo)TMED5   24251
Cards
Entrez_Gene (NCBI)TMED5  50999  transmembrane p24 trafficking protein 5
AliasesCGI-100; p24g2; p28
GeneCards (Weizmann)TMED5
Ensembl hg19 (Hinxton)ENSG00000117500 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000117500 [Gene_View]  ENSG00000117500 [Sequence]  chr1:93149742-93180689 [Contig_View]  TMED5 [Vega]
ICGC DataPortalENSG00000117500
TCGA cBioPortalTMED5
AceView (NCBI)TMED5
Genatlas (Paris)TMED5
WikiGenes50999
SOURCE (Princeton)TMED5
Genetics Home Reference (NIH)TMED5
Genomic and cartography
GoldenPath hg38 (UCSC)TMED5  -     chr1:93149742-93180689 -  1p22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TMED5  -     1p22.1   [Description]    (hg19-Feb_2009)
GoldenPathTMED5 - 1p22.1 [CytoView hg19]  TMED5 - 1p22.1 [CytoView hg38]
ImmunoBaseENSG00000117500
Mapping of homologs : NCBITMED5 [Mapview hg19]  TMED5 [Mapview hg38]
OMIM616876   
Gene and transcription
Genbank (Entrez)AF151858 AI436590 AK125882 AK293308 AK312787
RefSeq transcript (Entrez)NM_001167830 NM_016040
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TMED5
Cluster EST : UnigeneHs.482873 [ NCBI ]
CGAP (NCI)Hs.482873
Alternative Splicing GalleryENSG00000117500
Gene ExpressionTMED5 [ NCBI-GEO ]   TMED5 [ EBI - ARRAY_EXPRESS ]   TMED5 [ SEEK ]   TMED5 [ MEM ]
Gene Expression Viewer (FireBrowse)TMED5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)50999
GTEX Portal (Tissue expression)TMED5
Human Protein AtlasENSG00000117500-TMED5 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y3A6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y3A6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y3A6
Splice isoforms : SwissVarQ9Y3A6
PhosPhoSitePlusQ9Y3A6
Domaine pattern : Prosite (Expaxy)GOLD (PS50866)   
Domains : Interpro (EBI)GOLD_dom    GOLD_dom_sf    TMED5    TMP21-related   
Domain families : Pfam (Sanger)EMP24_GP25L (PF01105)   
Domain families : Pfam (NCBI)pfam01105   
Domain families : Smart (EMBL)EMP24_GP25L (SM01190)  
Conserved Domain (NCBI)TMED5
DMDM Disease mutations50999
Blocks (Seattle)TMED5
SuperfamilyQ9Y3A6
Human Protein Atlas [tissue]ENSG00000117500-TMED5 [tissue]
Peptide AtlasQ9Y3A6
HPRD13028
IPIIPI00294472   IPI01014501   IPI00641426   IPI00641954   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y3A6
IntAct (EBI)Q9Y3A6
FunCoupENSG00000117500
BioGRIDTMED5
STRING (EMBL)TMED5
ZODIACTMED5
Ontologies - Pathways
QuickGOQ9Y3A6
Ontology : AmiGOprotein binding  endoplasmic reticulum  endoplasmic reticulum membrane  endoplasmic reticulum-Golgi intermediate compartment  endoplasmic reticulum-Golgi intermediate compartment  Golgi apparatus  cis-Golgi network  intracellular protein transport  ER to Golgi vesicle-mediated transport  Golgi organization  integral component of membrane  COPII-coated ER to Golgi transport vesicle  endoplasmic reticulum-Golgi intermediate compartment membrane  endoplasmic reticulum exit site  Golgi ribbon formation  Golgi ribbon formation  
Ontology : EGO-EBIprotein binding  endoplasmic reticulum  endoplasmic reticulum membrane  endoplasmic reticulum-Golgi intermediate compartment  endoplasmic reticulum-Golgi intermediate compartment  Golgi apparatus  cis-Golgi network  intracellular protein transport  ER to Golgi vesicle-mediated transport  Golgi organization  integral component of membrane  COPII-coated ER to Golgi transport vesicle  endoplasmic reticulum-Golgi intermediate compartment membrane  endoplasmic reticulum exit site  Golgi ribbon formation  Golgi ribbon formation  
NDEx NetworkTMED5
Atlas of Cancer Signalling NetworkTMED5
Wikipedia pathwaysTMED5
Orthology - Evolution
OrthoDB50999
GeneTree (enSembl)ENSG00000117500
Phylogenetic Trees/Animal Genes : TreeFamTMED5
HOGENOMQ9Y3A6
Homologs : HomoloGeneTMED5
Homology/Alignments : Family Browser (UCSC)TMED5
Gene fusions - Rearrangements
Fusion : QuiverTMED5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTMED5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TMED5
dbVarTMED5
ClinVarTMED5
1000_GenomesTMED5 
Exome Variant ServerTMED5
ExAC (Exome Aggregation Consortium)ENSG00000117500
GNOMAD BrowserENSG00000117500
Varsome BrowserTMED5
Genetic variants : HAPMAP50999
Genomic Variants (DGV)TMED5 [DGVbeta]
DECIPHERTMED5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTMED5 
Mutations
ICGC Data PortalTMED5 
TCGA Data PortalTMED5 
Broad Tumor PortalTMED5
OASIS PortalTMED5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTMED5  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTMED5
Mutations and Diseases : HGMDTMED5
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 TMED5
DgiDB (Drug Gene Interaction Database)TMED5
DoCM (Curated mutations)TMED5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TMED5 (select a term)
intoGenTMED5
Cancer3DTMED5(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616876   
Orphanet
DisGeNETTMED5
MedgenTMED5
Genetic Testing Registry TMED5
NextProtQ9Y3A6 [Medical]
TSGene50999
GENETestsTMED5
Target ValidationTMED5
Huge Navigator TMED5 [HugePedia]
snp3D : Map Gene to Disease50999
BioCentury BCIQTMED5
ClinGenTMED5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD50999
Chemical/Pharm GKB GenePA134942067
Clinical trialTMED5
Miscellaneous
canSAR (ICR)TMED5 (select the gene name)
DataMed IndexTMED5
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTMED5
EVEXTMED5
GoPubMedTMED5
iHOPTMED5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Nov 13 18:12:00 CET 2019
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