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TBC1D17 (TBC1 domain family member 17)

Identity

Other alias-
HGNC (Hugo) TBC1D17
LocusID (NCBI) 79735
Atlas_Id 56724
Location 19q13.33  [Link to chromosome band 19q13]
Location_base_pair Starts at 49877425 and ends at 49888750 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
TBC1D17 (19q13.33) / BCL2L12 (19q13.33)TBC1D17 (19q13.33) / HDAC7 (12q13.11)TBC1D17 (19q13.33) / LGALS3 (14q22.3)
TBC1D17 (19q13.33) / MED25 (19q13.33)TBC1D17 (19q13.33) / MEF2C (5q14.3)TBC1D17 (19q13.33) / PPP6R1 (19q13.42)

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)TBC1D17   25699
Cards
Entrez_Gene (NCBI)TBC1D17  79735  TBC1 domain family member 17
Aliases
GeneCards (Weizmann)TBC1D17
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]  chr19:49877425-49888750 [Contig_View]  TBC1D17 [Vega]
TCGA cBioPortalTBC1D17
AceView (NCBI)TBC1D17
Genatlas (Paris)TBC1D17
WikiGenes79735
SOURCE (Princeton)TBC1D17
Genetics Home Reference (NIH)TBC1D17
Genomic and cartography
GoldenPath hg38 (UCSC)TBC1D17  -     chr19:49877425-49888750 +  19q13.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TBC1D17  -     19q13.33   [Description]    (hg19-Feb_2009)
EnsemblTBC1D17 - 19q13.33 [CytoView hg19]  TBC1D17 - 19q13.33 [CytoView hg38]
Mapping of homologs : NCBITBC1D17 [Mapview hg19]  TBC1D17 [Mapview hg38]
OMIM616659   
Gene and transcription
Genbank (Entrez)AB449903 AI805386 AI927008 AK022230 AK090606
RefSeq transcript (Entrez)NM_001168222 NM_024682
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TBC1D17
Cluster EST : UnigeneHs.631587 [ NCBI ]
CGAP (NCI)Hs.631587
Gene ExpressionTBC1D17 [ NCBI-GEO ]   TBC1D17 [ EBI - ARRAY_EXPRESS ]   TBC1D17 [ SEEK ]   TBC1D17 [ MEM ]
Gene Expression Viewer (FireBrowse)TBC1D17 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79735
GTEX Portal (Tissue expression)TBC1D17
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9HA65   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9HA65  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9HA65
Splice isoforms : SwissVarQ9HA65
PhosPhoSitePlusQ9HA65
Domaine pattern : Prosite (Expaxy)TBC_RABGAP (PS50086)   
Domains : Interpro (EBI)DUF3548    Rab-GTPase-TBC_dom   
Domain families : Pfam (Sanger)DUF3548 (PF12068)    RabGAP-TBC (PF00566)   
Domain families : Pfam (NCBI)pfam12068    pfam00566   
Domain families : Smart (EMBL)TBC (SM00164)  
Conserved Domain (NCBI)TBC1D17
DMDM Disease mutations79735
Blocks (Seattle)TBC1D17
SuperfamilyQ9HA65
Peptide AtlasQ9HA65
IPIIPI00002957   IPI00954884   
Protein Interaction databases
DIP (DOE-UCLA)Q9HA65
IntAct (EBI)Q9HA65
BioGRIDTBC1D17
STRING (EMBL)TBC1D17
ZODIACTBC1D17
Ontologies - Pathways
QuickGOQ9HA65
Ontology : AmiGOGTPase activator activity  protein binding  autophagosome  cytosol  intracellular protein transport  autophagy  endomembrane system  Rab GTPase binding  regulation of vesicle fusion  retrograde transport, endosome to Golgi  recycling endosome  membrane organization  activation of GTPase activity  regulation of cilium assembly  
Ontology : EGO-EBIGTPase activator activity  protein binding  autophagosome  cytosol  intracellular protein transport  autophagy  endomembrane system  Rab GTPase binding  regulation of vesicle fusion  retrograde transport, endosome to Golgi  recycling endosome  membrane organization  activation of GTPase activity  regulation of cilium assembly  
NDEx NetworkTBC1D17
Atlas of Cancer Signalling NetworkTBC1D17
Wikipedia pathwaysTBC1D17
Orthology - Evolution
OrthoDB79735
Phylogenetic Trees/Animal Genes : TreeFamTBC1D17
HOVERGENQ9HA65
HOGENOMQ9HA65
Homologs : HomoloGeneTBC1D17
Homology/Alignments : Family Browser (UCSC)TBC1D17
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBC1D17 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBC1D17
dbVarTBC1D17
ClinVarTBC1D17
1000_GenomesTBC1D17 
Exome Variant ServerTBC1D17
ExAC (Exome Aggregation Consortium)TBC1D17 (select the gene name)
Genetic variants : HAPMAP79735
Genomic Variants (DGV)TBC1D17 [DGVbeta]
DECIPHERTBC1D17 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTBC1D17 
Mutations
ICGC Data PortalTBC1D17 
TCGA Data PortalTBC1D17 
Broad Tumor PortalTBC1D17
OASIS PortalTBC1D17 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTBC1D17  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTBC1D17
BioMutasearch TBC1D17
DgiDB (Drug Gene Interaction Database)TBC1D17
DoCM (Curated mutations)TBC1D17 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TBC1D17 (select a term)
intoGenTBC1D17
Cancer3DTBC1D17(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616659   
Orphanet
MedgenTBC1D17
Genetic Testing Registry TBC1D17
NextProtQ9HA65 [Medical]
TSGene79735
GENETestsTBC1D17
Target ValidationTBC1D17
Huge Navigator TBC1D17 [HugePedia]
snp3D : Map Gene to Disease79735
BioCentury BCIQTBC1D17
ClinGenTBC1D17
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79735
Chemical/Pharm GKB GenePA134922509
Clinical trialTBC1D17
Miscellaneous
canSAR (ICR)TBC1D17 (select the gene name)
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTBC1D17
EVEXTBC1D17
GoPubMedTBC1D17
iHOPTBC1D17
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 18 14:09:16 CEST 2017

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