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TIMM8A (translocase of inner mitochondrial membrane 8A)

Identity

Alias (NCBI)DDP
DDP1
DFN1
MTS
TIM8
HGNC (Hugo) TIMM8A
HGNC Alias symbDDP
MTS
HGNC Previous nameDFN1
HGNC Previous nametranslocase of inner mitochondrial membrane 8 (yeast) homolog A
 translocase of inner mitochondrial membrane 8 homolog A (yeast)
LocusID (NCBI) 1678
Atlas_Id 42568
Location Xq22.1  [Link to chromosome band Xq22]
Location_base_pair Starts at 101345661 and ends at 101348742 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)
ABL1 (9q34.12) / TIMM8A (Xq22.1)

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)TIMM8A   11817
Cards
Entrez_Gene (NCBI)TIMM8A    translocase of inner mitochondrial membrane 8A
AliasesDDP; DDP1; DFN1; MTS; 
TIM8
GeneCards (Weizmann)TIMM8A
Ensembl hg19 (Hinxton)ENSG00000126953 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000126953 [Gene_View]  ENSG00000126953 [Sequence]  chrX:101345661-101348742 [Contig_View]  TIMM8A [Vega]
ICGC DataPortalENSG00000126953
TCGA cBioPortalTIMM8A
AceView (NCBI)TIMM8A
Genatlas (Paris)TIMM8A
SOURCE (Princeton)TIMM8A
Genetics Home Reference (NIH)TIMM8A
Genomic and cartography
GoldenPath hg38 (UCSC)TIMM8A  -     chrX:101345661-101348742 -  Xq22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TIMM8A  -     Xq22.1   [Description]    (hg19-Feb_2009)
GoldenPathTIMM8A - Xq22.1 [CytoView hg19]  TIMM8A - Xq22.1 [CytoView hg38]
ImmunoBaseENSG00000126953
Genome Data Viewer NCBITIMM8A [Mapview hg19]  
OMIM300356   304700   
Gene and transcription
Genbank (Entrez)AK312117 AW204693 BC005236 BC006994 BC015093
RefSeq transcript (Entrez)NM_001145951 NM_004085 NM_032696
Consensus coding sequences : CCDS (NCBI)TIMM8A
Gene ExpressionTIMM8A [ NCBI-GEO ]   TIMM8A [ EBI - ARRAY_EXPRESS ]   TIMM8A [ SEEK ]   TIMM8A [ MEM ]
Gene Expression Viewer (FireBrowse)TIMM8A [ Firebrowse - Broad ]
GenevisibleExpression of TIMM8A in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1678
GTEX Portal (Tissue expression)TIMM8A
Human Protein AtlasENSG00000126953-TIMM8A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60220   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO60220  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO60220
PhosPhoSitePlusO60220
Domains : Interpro (EBI)Tim10-like    Tim10-like_dom_sf    Tim8/13   
Domain families : Pfam (Sanger)zf-Tim10_DDP (PF02953)   
Domain families : Pfam (NCBI)pfam02953   
Conserved Domain (NCBI)TIMM8A
SuperfamilyO60220
AlphaFold pdb e-kbO60220   
Human Protein Atlas [tissue]ENSG00000126953-TIMM8A [tissue]
HPRD02287
Protein Interaction databases
DIP (DOE-UCLA)O60220
IntAct (EBI)O60220
BioGRIDTIMM8A
STRING (EMBL)TIMM8A
ZODIACTIMM8A
Ontologies - Pathways
QuickGOO60220
Ontology : AmiGOprotein binding  mitochondrion  mitochondrion  mitochondrial inner membrane  mitochondrial intermembrane space  nervous system development  identical protein binding  protein insertion into mitochondrial inner membrane  metal ion binding  
Ontology : EGO-EBIprotein binding  mitochondrion  mitochondrion  mitochondrial inner membrane  mitochondrial intermembrane space  nervous system development  identical protein binding  protein insertion into mitochondrial inner membrane  metal ion binding  
NDEx NetworkTIMM8A
Atlas of Cancer Signalling NetworkTIMM8A
Wikipedia pathwaysTIMM8A
Orthology - Evolution
OrthoDB1678
GeneTree (enSembl)ENSG00000126953
Phylogenetic Trees/Animal Genes : TreeFamTIMM8A
Homologs : HomoloGeneTIMM8A
Homology/Alignments : Family Browser (UCSC)TIMM8A
Gene fusions - Rearrangements
Fusion : QuiverTIMM8A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTIMM8A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TIMM8A
dbVarTIMM8A
ClinVarTIMM8A
MonarchTIMM8A
1000_GenomesTIMM8A 
Exome Variant ServerTIMM8A
GNOMAD BrowserENSG00000126953
Varsome BrowserTIMM8A
ACMGTIMM8A variants
VarityO60220
Genomic Variants (DGV)TIMM8A [DGVbeta]
DECIPHERTIMM8A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTIMM8A 
Mutations
ICGC Data PortalTIMM8A 
TCGA Data PortalTIMM8A 
Broad Tumor PortalTIMM8A
OASIS PortalTIMM8A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTIMM8A  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTIMM8A
Mutations and Diseases : HGMDTIMM8A
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTIMM8A
DgiDB (Drug Gene Interaction Database)TIMM8A
DoCM (Curated mutations)TIMM8A
CIViC (Clinical Interpretations of Variants in Cancer)TIMM8A
Cancer3DTIMM8A
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300356    304700   
Orphanet10691   
DisGeNETTIMM8A
MedgenTIMM8A
Genetic Testing Registry TIMM8A
NextProtO60220 [Medical]
GENETestsTIMM8A
Target ValidationTIMM8A
Huge Navigator TIMM8A [HugePedia]
ClinGenTIMM8A (curated)
Clinical trials, drugs, therapy
MyCancerGenomeTIMM8A
Protein Interactions : CTDTIMM8A
Pharm GKB GenePA36523
PharosO60220
Clinical trialTIMM8A
Miscellaneous
canSAR (ICR)TIMM8A
HarmonizomeTIMM8A
DataMed IndexTIMM8A
Probes
Litterature
PubMed70 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTIMM8A
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 15:35:07 CEST 2021

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