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TIMM50 (translocase of inner mitochondrial membrane 50)

Identity

Alias_namestranslocase of inner mitochondrial membrane 50 homolog (yeast)
Alias_symbol (synonym)TIM50L
Other aliasTIM50
HGNC (Hugo) TIMM50
LocusID (NCBI) 92609
Atlas_Id 52410
Location 19q13.2  [Link to chromosome band 19q13]
Location_base_pair Starts at 39480412 and ends at 39493784 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
AGRN (1p36.33) / TIMM50 (19q13.2)

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)TIMM50   23656
Cards
Entrez_Gene (NCBI)TIMM50  92609  translocase of inner mitochondrial membrane 50
AliasesTIM50; TIM50L
GeneCards (Weizmann)TIMM50
Ensembl hg19 (Hinxton)ENSG00000105197 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000105197 [Gene_View]  chr19:39480412-39493784 [Contig_View]  TIMM50 [Vega]
ICGC DataPortalENSG00000105197
TCGA cBioPortalTIMM50
AceView (NCBI)TIMM50
Genatlas (Paris)TIMM50
WikiGenes92609
SOURCE (Princeton)TIMM50
Genetics Home Reference (NIH)TIMM50
Genomic and cartography
GoldenPath hg38 (UCSC)TIMM50  -     chr19:39480412-39493784 +  19q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TIMM50  -     19q13.2   [Description]    (hg19-Feb_2009)
EnsemblTIMM50 - 19q13.2 [CytoView hg19]  TIMM50 - 19q13.2 [CytoView hg38]
Mapping of homologs : NCBITIMM50 [Mapview hg19]  TIMM50 [Mapview hg38]
OMIM607381   
Gene and transcription
Genbank (Entrez)AI762706 AK092396 AK097291 AK098197 AY444561
RefSeq transcript (Entrez)NM_001001563 NM_001329559
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TIMM50
Cluster EST : UnigeneHs.597106 [ NCBI ]
CGAP (NCI)Hs.597106
Alternative Splicing GalleryENSG00000105197
Gene ExpressionTIMM50 [ NCBI-GEO ]   TIMM50 [ EBI - ARRAY_EXPRESS ]   TIMM50 [ SEEK ]   TIMM50 [ MEM ]
Gene Expression Viewer (FireBrowse)TIMM50 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)92609
GTEX Portal (Tissue expression)TIMM50
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ3ZCQ8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ3ZCQ8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ3ZCQ8
Splice isoforms : SwissVarQ3ZCQ8
PhosPhoSitePlusQ3ZCQ8
Domaine pattern : Prosite (Expaxy)FCP1 (PS50969)   
Domains : Interpro (EBI)FCP1_dom    HAD-like_dom    Tim50   
Domain families : Pfam (Sanger)NIF (PF03031)   
Domain families : Pfam (NCBI)pfam03031   
Domain families : Smart (EMBL)CPDc (SM00577)  
Conserved Domain (NCBI)TIMM50
DMDM Disease mutations92609
Blocks (Seattle)TIMM50
SuperfamilyQ3ZCQ8
Human Protein AtlasENSG00000105197
Peptide AtlasQ3ZCQ8
HPRD12118
IPIIPI00656071   IPI00418497   IPI01013489   
Protein Interaction databases
DIP (DOE-UCLA)Q3ZCQ8
IntAct (EBI)Q3ZCQ8
FunCoupENSG00000105197
BioGRIDTIMM50
STRING (EMBL)TIMM50
ZODIACTIMM50
Ontologies - Pathways
QuickGOQ3ZCQ8
Ontology : AmiGOrelease of cytochrome c from mitochondria  RNA binding  phosphoprotein phosphatase activity  protein serine/threonine phosphatase activity  protein tyrosine phosphatase activity  interleukin-2 receptor binding  protein binding  nucleoplasm  mitochondrion  mitochondrial inner membrane  mitochondrial inner membrane presequence translocase complex  protein dephosphorylation  mitochondrial membrane organization  integral component of membrane  nuclear speck  protein import into mitochondrial matrix  peptidyl-tyrosine dephosphorylation  ribonucleoprotein complex binding  
Ontology : EGO-EBIrelease of cytochrome c from mitochondria  RNA binding  phosphoprotein phosphatase activity  protein serine/threonine phosphatase activity  protein tyrosine phosphatase activity  interleukin-2 receptor binding  protein binding  nucleoplasm  mitochondrion  mitochondrial inner membrane  mitochondrial inner membrane presequence translocase complex  protein dephosphorylation  mitochondrial membrane organization  integral component of membrane  nuclear speck  protein import into mitochondrial matrix  peptidyl-tyrosine dephosphorylation  ribonucleoprotein complex binding  
NDEx NetworkTIMM50
Atlas of Cancer Signalling NetworkTIMM50
Wikipedia pathwaysTIMM50
Orthology - Evolution
OrthoDB92609
GeneTree (enSembl)ENSG00000105197
Phylogenetic Trees/Animal Genes : TreeFamTIMM50
HOVERGENQ3ZCQ8
HOGENOMQ3ZCQ8
Homologs : HomoloGeneTIMM50
Homology/Alignments : Family Browser (UCSC)TIMM50
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTIMM50 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TIMM50
dbVarTIMM50
ClinVarTIMM50
1000_GenomesTIMM50 
Exome Variant ServerTIMM50
ExAC (Exome Aggregation Consortium)TIMM50 (select the gene name)
Genetic variants : HAPMAP92609
Genomic Variants (DGV)TIMM50 [DGVbeta]
DECIPHERTIMM50 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTIMM50 
Mutations
ICGC Data PortalTIMM50 
TCGA Data PortalTIMM50 
Broad Tumor PortalTIMM50
OASIS PortalTIMM50 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTIMM50  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTIMM50
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 TIMM50
DgiDB (Drug Gene Interaction Database)TIMM50
DoCM (Curated mutations)TIMM50 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TIMM50 (select a term)
intoGenTIMM50
Cancer3DTIMM50(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607381   
Orphanet
MedgenTIMM50
Genetic Testing Registry TIMM50
NextProtQ3ZCQ8 [Medical]
TSGene92609
GENETestsTIMM50
Target ValidationTIMM50
Huge Navigator TIMM50 [HugePedia]
snp3D : Map Gene to Disease92609
BioCentury BCIQTIMM50
ClinGenTIMM50
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD92609
Chemical/Pharm GKB GenePA134902846
Clinical trialTIMM50
Miscellaneous
canSAR (ICR)TIMM50 (select the gene name)
Probes
Litterature
PubMed56 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTIMM50
EVEXTIMM50
GoPubMedTIMM50
iHOPTIMM50
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 12:59:24 CEST 2017

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