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TIMM17B (translocase of inner mitochondrial membrane 17B)

Identity

Alias_symbol (synonym)DXS9822
JM3
Other aliasTIM17B
HGNC (Hugo) TIMM17B
LocusID (NCBI) 10245
Atlas_Id 42565
Location Xp11.23  [Link to chromosome band Xp11]
Location_base_pair Starts at 48893447 and ends at 48898143 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
PLP2 (Xp11.23) / TIMM17B (Xp11.23)TIMM17B (Xp11.23) / SPINT1 (15q15.1)

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)TIMM17B   17310
Cards
Entrez_Gene (NCBI)TIMM17B  10245  translocase of inner mitochondrial membrane 17B
AliasesDXS9822; JM3; TIM17B
GeneCards (Weizmann)TIMM17B
Ensembl hg19 (Hinxton)ENSG00000126768 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000126768 [Gene_View]  chrX:48893447-48898143 [Contig_View]  TIMM17B [Vega]
ICGC DataPortalENSG00000126768
TCGA cBioPortalTIMM17B
AceView (NCBI)TIMM17B
Genatlas (Paris)TIMM17B
WikiGenes10245
SOURCE (Princeton)TIMM17B
Genetics Home Reference (NIH)TIMM17B
Genomic and cartography
GoldenPath hg38 (UCSC)TIMM17B  -     chrX:48893447-48898143 -  Xp11.23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TIMM17B  -     Xp11.23   [Description]    (hg19-Feb_2009)
EnsemblTIMM17B - Xp11.23 [CytoView hg19]  TIMM17B - Xp11.23 [CytoView hg38]
Mapping of homologs : NCBITIMM17B [Mapview hg19]  TIMM17B [Mapview hg38]
OMIM300249   
Gene and transcription
Genbank (Entrez)AF034790 AF077039 AJ005895 AK290207 BC010142
RefSeq transcript (Entrez)NM_001167947 NM_005834
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TIMM17B
Cluster EST : UnigeneHs.30570 [ NCBI ]
CGAP (NCI)Hs.30570
Alternative Splicing GalleryENSG00000126768
Gene ExpressionTIMM17B [ NCBI-GEO ]   TIMM17B [ EBI - ARRAY_EXPRESS ]   TIMM17B [ SEEK ]   TIMM17B [ MEM ]
Gene Expression Viewer (FireBrowse)TIMM17B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10245
GTEX Portal (Tissue expression)TIMM17B
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60830   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO60830  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO60830
Splice isoforms : SwissVarO60830
PhosPhoSitePlusO60830
Domains : Interpro (EBI)Tim17    Tim17/Tim22/Tim23/PMP24   
Domain families : Pfam (Sanger)Tim17 (PF02466)   
Domain families : Pfam (NCBI)pfam02466   
Conserved Domain (NCBI)TIMM17B
DMDM Disease mutations10245
Blocks (Seattle)TIMM17B
SuperfamilyO60830
Human Protein AtlasENSG00000126768
Peptide AtlasO60830
HPRD02218
IPIIPI00219833   IPI00816516   IPI00954568   
Protein Interaction databases
DIP (DOE-UCLA)O60830
IntAct (EBI)O60830
FunCoupENSG00000126768
BioGRIDTIMM17B
STRING (EMBL)TIMM17B
ZODIACTIMM17B
Ontologies - Pathways
QuickGOO60830
Ontology : AmiGOmitochondrial inner membrane  mitochondrial inner membrane presequence translocase complex  protein targeting to mitochondrion  protein channel activity  P-P-bond-hydrolysis-driven protein transmembrane transporter activity  protein import into mitochondrial matrix  integral component of mitochondrial inner membrane  
Ontology : EGO-EBImitochondrial inner membrane  mitochondrial inner membrane presequence translocase complex  protein targeting to mitochondrion  protein channel activity  P-P-bond-hydrolysis-driven protein transmembrane transporter activity  protein import into mitochondrial matrix  integral component of mitochondrial inner membrane  
NDEx NetworkTIMM17B
Atlas of Cancer Signalling NetworkTIMM17B
Wikipedia pathwaysTIMM17B
Orthology - Evolution
OrthoDB10245
GeneTree (enSembl)ENSG00000126768
Phylogenetic Trees/Animal Genes : TreeFamTIMM17B
HOVERGENO60830
HOGENOMO60830
Homologs : HomoloGeneTIMM17B
Homology/Alignments : Family Browser (UCSC)TIMM17B
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTIMM17B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TIMM17B
dbVarTIMM17B
ClinVarTIMM17B
1000_GenomesTIMM17B 
Exome Variant ServerTIMM17B
ExAC (Exome Aggregation Consortium)TIMM17B (select the gene name)
Genetic variants : HAPMAP10245
Genomic Variants (DGV)TIMM17B [DGVbeta]
DECIPHERTIMM17B [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTIMM17B 
Mutations
ICGC Data PortalTIMM17B 
TCGA Data PortalTIMM17B 
Broad Tumor PortalTIMM17B
OASIS PortalTIMM17B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTIMM17B  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTIMM17B
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)X-chromosome gene database
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch TIMM17B
DgiDB (Drug Gene Interaction Database)TIMM17B
DoCM (Curated mutations)TIMM17B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TIMM17B (select a term)
intoGenTIMM17B
Cancer3DTIMM17B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300249   
Orphanet
MedgenTIMM17B
Genetic Testing Registry TIMM17B
NextProtO60830 [Medical]
TSGene10245
GENETestsTIMM17B
Target ValidationTIMM17B
Huge Navigator TIMM17B [HugePedia]
snp3D : Map Gene to Disease10245
BioCentury BCIQTIMM17B
ClinGenTIMM17B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10245
Chemical/Pharm GKB GenePA38226
Clinical trialTIMM17B
Miscellaneous
canSAR (ICR)TIMM17B (select the gene name)
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTIMM17B
EVEXTIMM17B
GoPubMedTIMM17B
iHOPTIMM17B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:35:03 CEST 2017

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