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TBC1D3 (TBC1 domain family member 3)

Identity

Alias_namesTBC1 domain family, member 3
Alias_symbol (synonym)TBC1D3A
DKFZp434P2235
PRC17
Other aliasTBC1D3C
TBC1D3D
TBC1D3F
TBC1D3L
HGNC (Hugo) TBC1D3
LocusID (NCBI) 729873
Atlas_Id 51139
Location 17q12  [Link to chromosome band 17q12]
Location_base_pair Starts at 37924460 and ends at 37935554 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)
OSBPL9 (1p32.3) / TBC1D3 (17q12)TBC1D3 (17q12) / NPEPPS (17q21.32)

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(17;17)(q12;q21) TBC1D3/NPEPPS

External links

Nomenclature
HGNC (Hugo)TBC1D3   19031
Cards
Entrez_Gene (NCBI)TBC1D3  729873  TBC1 domain family member 3
AliasesPRC17; TBC1D3A; TBC1D3C; TBC1D3D; 
TBC1D3F; TBC1D3L
GeneCards (Weizmann)TBC1D3
Ensembl hg19 (Hinxton)ENSG00000274611 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000274611 [Gene_View]  ENSG00000274611 [Sequence]  chr17:37924460-37935554 [Contig_View]  TBC1D3 [Vega]
ICGC DataPortalENSG00000274611
TCGA cBioPortalTBC1D3
AceView (NCBI)TBC1D3
Genatlas (Paris)TBC1D3
WikiGenes729873
SOURCE (Princeton)TBC1D3
Genetics Home Reference (NIH)TBC1D3
Genomic and cartography
GoldenPath hg38 (UCSC)TBC1D3  -     chr17:37924460-37935554 +  17q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TBC1D3  -     17q12   [Description]    (hg19-Feb_2009)
GoldenPathTBC1D3 - 17q12 [CytoView hg19]  TBC1D3 - 17q12 [CytoView hg38]
Genome Data Viewer NCBITBC1D3 [Mapview hg19]  
OMIM607741   
Gene and transcription
Genbank (Entrez)AB449884 AK302064 AK303259 AX775941 AX775943
RefSeq transcript (Entrez)NM_001123391
RefSeq genomic (Entrez)NC_000017 NT_187614
Consensus coding sequences : CCDS (NCBI)TBC1D3
Alternative Splicing GalleryENSG00000274611
Gene ExpressionTBC1D3 [ NCBI-GEO ]   TBC1D3 [ EBI - ARRAY_EXPRESS ]   TBC1D3 [ SEEK ]   TBC1D3 [ MEM ]
Gene Expression Viewer (FireBrowse)TBC1D3 [ Firebrowse - Broad ]
GenevisibleExpression of TBC1D3 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)729873
GTEX Portal (Tissue expression)TBC1D3
Human Protein AtlasENSG00000274611-TBC1D3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IZP1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IZP1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IZP1
Splice isoforms : SwissVarQ8IZP1
PhosPhoSitePlusQ8IZP1
Domaine pattern : Prosite (Expaxy)TBC_RABGAP (PS50086)   
Domains : Interpro (EBI)Rab-GTPase-TBC_dom    Rab-GTPase_TBC_sf   
Domain families : Pfam (Sanger)RabGAP-TBC (PF00566)   
Domain families : Pfam (NCBI)pfam00566   
Domain families : Smart (EMBL)TBC (SM00164)  
Conserved Domain (NCBI)TBC1D3
DMDM Disease mutations729873
SuperfamilyQ8IZP1
Human Protein Atlas [tissue]ENSG00000274611-TBC1D3 [tissue]
Peptide AtlasQ8IZP1
Protein Interaction databases
DIP (DOE-UCLA)Q8IZP1
IntAct (EBI)Q8IZP1
FunCoupENSG00000274611
BioGRIDTBC1D3
STRING (EMBL)TBC1D3
ZODIACTBC1D3
Ontologies - Pathways
QuickGOQ8IZP1
Ontology : AmiGOGTPase activator activity  plasma membrane  intracellular protein transport  Rab GTPase binding  early endosome membrane  activation of GTPase activity  regulation of cilium assembly  
Ontology : EGO-EBIGTPase activator activity  plasma membrane  intracellular protein transport  Rab GTPase binding  early endosome membrane  activation of GTPase activity  regulation of cilium assembly  
NDEx NetworkTBC1D3
Atlas of Cancer Signalling NetworkTBC1D3
Wikipedia pathwaysTBC1D3
Orthology - Evolution
OrthoDB729873
GeneTree (enSembl)ENSG00000274611
Phylogenetic Trees/Animal Genes : TreeFamTBC1D3
HOGENOMQ8IZP1
Homologs : HomoloGeneTBC1D3
Homology/Alignments : Family Browser (UCSC)TBC1D3
Gene fusions - Rearrangements
Fusion : MitelmanTBC1D3/NPEPPS [17q12/17q21.32]  
Fusion : QuiverTBC1D3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBC1D3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBC1D3
dbVarTBC1D3
ClinVarTBC1D3
1000_GenomesTBC1D3 
Exome Variant ServerTBC1D3
GNOMAD BrowserENSG00000274611
Varsome BrowserTBC1D3
Genetic variants : HAPMAP729873
Genomic Variants (DGV)TBC1D3 [DGVbeta]
DECIPHERTBC1D3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTBC1D3 
Mutations
ICGC Data PortalTBC1D3 
TCGA Data PortalTBC1D3 
Broad Tumor PortalTBC1D3
OASIS PortalTBC1D3 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDTBC1D3
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
BioMutaselect TBC1D3
DgiDB (Drug Gene Interaction Database)TBC1D3
DoCM (Curated mutations)TBC1D3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TBC1D3 (select a term)
intoGenTBC1D3
Cancer3DTBC1D3 (select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607741   
Orphanet
DisGeNETTBC1D3
MedgenTBC1D3
Genetic Testing Registry TBC1D3
NextProtQ8IZP1 [Medical]
TSGene729873
GENETestsTBC1D3
Open Targets GeneticsENSG00000274611  [validation]
snp3D : Map Gene to Disease729873
BioCentury BCIQTBC1D3
ClinGenTBC1D3
Clinical trials, drugs, therapy
Protein Interactions : CTD729873
Pharm GKB GenePA134941179
Clinical trialTBC1D3
Miscellaneous
canSAR (ICR)TBC1D3 (select the gene name)
HarmonizomeTBC1D3
DataMed IndexTBC1D3
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTBC1D3
EVEXTBC1D3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Jul 11 20:14:40 CEST 2020
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