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TOMM40 (translocase of outer mitochondrial membrane 40)

Identity

Alias_namestranslocase of outer mitochondrial membrane 40 homolog (yeast)
Alias_symbol (synonym)PEREC1
D19S1177E
C19orf1
TOM40
PER-EC1
Other alias
HGNC (Hugo) TOMM40
LocusID (NCBI) 10452
Atlas_Id 46484
Location 19q13.32  [Link to chromosome band 19q13]
Location_base_pair Starts at 44891220 and ends at 44903689 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
LRTOMT (11q13.4) / TOMM40 (19q13.32)TOMM40 (19q13.32) / BCAP29 (7q22.3)TOMM40 (19q13.32) / CEACAM19 (19q13.31)
TOMM40 (19q13.32) / NECTIN2 (19q13.32)TOMM40 (19q13.32) / PDZRN4 (12q12)TOMM40 19q13.32 / PDZRN4 12q12
TOMM40 19q13.32 / PVRL2 19q13.32

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)TOMM40   18001
Cards
Entrez_Gene (NCBI)TOMM40  10452  translocase of outer mitochondrial membrane 40
AliasesC19orf1; D19S1177E; PER-EC1; PEREC1; 
TOM40
GeneCards (Weizmann)TOMM40
Ensembl hg19 (Hinxton)ENSG00000130204 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000130204 [Gene_View]  chr19:44891220-44903689 [Contig_View]  TOMM40 [Vega]
ICGC DataPortalENSG00000130204
TCGA cBioPortalTOMM40
AceView (NCBI)TOMM40
Genatlas (Paris)TOMM40
WikiGenes10452
SOURCE (Princeton)TOMM40
Genetics Home Reference (NIH)TOMM40
Genomic and cartography
GoldenPath hg38 (UCSC)TOMM40  -     chr19:44891220-44903689 +  19q13.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TOMM40  -     19q13.32   [Description]    (hg19-Feb_2009)
EnsemblTOMM40 - 19q13.32 [CytoView hg19]  TOMM40 - 19q13.32 [CytoView hg38]
Mapping of homologs : NCBITOMM40 [Mapview hg19]  TOMM40 [Mapview hg38]
OMIM608061   
Gene and transcription
Genbank (Entrez)AF043250 AF316398 AF316399 AF316401 AF316402
RefSeq transcript (Entrez)NM_001128916 NM_001128917 NM_006114
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TOMM40
Cluster EST : UnigeneHs.655909 [ NCBI ]
CGAP (NCI)Hs.655909
Alternative Splicing GalleryENSG00000130204
Gene ExpressionTOMM40 [ NCBI-GEO ]   TOMM40 [ EBI - ARRAY_EXPRESS ]   TOMM40 [ SEEK ]   TOMM40 [ MEM ]
Gene Expression Viewer (FireBrowse)TOMM40 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10452
GTEX Portal (Tissue expression)TOMM40
Protein : pattern, domain, 3D structure
UniProt/SwissProtO96008   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO96008  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO96008
Splice isoforms : SwissVarO96008
PhosPhoSitePlusO96008
Domains : Interpro (EBI)Porin_dom    Porin_Euk/Tom40   
Domain families : Pfam (Sanger)Porin_3 (PF01459)   
Domain families : Pfam (NCBI)pfam01459   
Conserved Domain (NCBI)TOMM40
DMDM Disease mutations10452
Blocks (Seattle)TOMM40
SuperfamilyO96008
Human Protein AtlasENSG00000130204
Peptide AtlasO96008
HPRD16274
IPIIPI00014053   IPI00376117   
Protein Interaction databases
DIP (DOE-UCLA)O96008
IntAct (EBI)O96008
FunCoupENSG00000130204
BioGRIDTOMM40
STRING (EMBL)TOMM40
ZODIACTOMM40
Ontologies - Pathways
QuickGOO96008
Ontology : AmiGOprotein binding  mitochondrion  mitochondrion  mitochondrial outer membrane  mitochondrial outer membrane translocase complex  mitochondrial inner membrane  cytosol  protein targeting to mitochondrion  ion transport  protein transmembrane transporter activity  protein transmembrane transporter activity  protein channel activity  porin activity  integral component of membrane  macroautophagy  protein import into mitochondrial matrix  integral component of mitochondrial outer membrane  pore complex  extracellular exosome  
Ontology : EGO-EBIprotein binding  mitochondrion  mitochondrion  mitochondrial outer membrane  mitochondrial outer membrane translocase complex  mitochondrial inner membrane  cytosol  protein targeting to mitochondrion  ion transport  protein transmembrane transporter activity  protein transmembrane transporter activity  protein channel activity  porin activity  integral component of membrane  macroautophagy  protein import into mitochondrial matrix  integral component of mitochondrial outer membrane  pore complex  extracellular exosome  
Pathways : KEGGAmyotrophic lateral sclerosis (ALS)   
NDEx NetworkTOMM40
Atlas of Cancer Signalling NetworkTOMM40
Wikipedia pathwaysTOMM40
Orthology - Evolution
OrthoDB10452
GeneTree (enSembl)ENSG00000130204
Phylogenetic Trees/Animal Genes : TreeFamTOMM40
HOVERGENO96008
HOGENOMO96008
Homologs : HomoloGeneTOMM40
Homology/Alignments : Family Browser (UCSC)TOMM40
Gene fusions - Rearrangements
Fusion : MitelmanTOMM40/PDZRN4 [19q13.32/12q12]  
Fusion : MitelmanTOMM40/PVRL2 [19q13.32/19q13.32]  [t(19;19)(q13;q13)]  
Fusion: TCGATOMM40 19q13.32 PDZRN4 12q12 BLCA
Fusion: TCGATOMM40 19q13.32 PVRL2 19q13.32 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTOMM40 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TOMM40
dbVarTOMM40
ClinVarTOMM40
1000_GenomesTOMM40 
Exome Variant ServerTOMM40
ExAC (Exome Aggregation Consortium)TOMM40 (select the gene name)
Genetic variants : HAPMAP10452
Genomic Variants (DGV)TOMM40 [DGVbeta]
DECIPHERTOMM40 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTOMM40 
Mutations
ICGC Data PortalTOMM40 
TCGA Data PortalTOMM40 
Broad Tumor PortalTOMM40
OASIS PortalTOMM40 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTOMM40  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTOMM40
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
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch TOMM40
DgiDB (Drug Gene Interaction Database)TOMM40
DoCM (Curated mutations)TOMM40 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TOMM40 (select a term)
intoGenTOMM40
Cancer3DTOMM40(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608061   
Orphanet
MedgenTOMM40
Genetic Testing Registry TOMM40
NextProtO96008 [Medical]
TSGene10452
GENETestsTOMM40
Target ValidationTOMM40
Huge Navigator TOMM40 [HugePedia]
snp3D : Map Gene to Disease10452
BioCentury BCIQTOMM40
ClinGenTOMM40
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10452
Chemical/Pharm GKB GenePA38274
Clinical trialTOMM40
Miscellaneous
canSAR (ICR)TOMM40 (select the gene name)
Probes
Litterature
PubMed119 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTOMM40
EVEXTOMM40
GoPubMedTOMM40
iHOPTOMM40
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 13:00:16 CEST 2017

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