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TBC1D8 (TBC1 domain family member 8)

Identity

Alias_namesTBC1 domain family
Alias_symbol (synonym)HBLP1
VRP
AD3
GRAMD8
Other aliasTBC1D8A
HGNC (Hugo) TBC1D8
LocusID (NCBI) 11138
Atlas_Id 56466
Location 2q11.2  [Link to chromosome band 2q11]
Location_base_pair Starts at 101007228 and ends at 101151447 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
PRKCD (3p21.1) / TBC1D8 (2q11.2)TBC1D8 (2q11.2) / C12orf75 (12q23.3)TBC1D8 (2q11.2) / CAMTA1 (1p36.31)
TBC1D8 (2q11.2) / KIF14 (1q32.1)

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)TBC1D8   17791
Cards
Entrez_Gene (NCBI)TBC1D8  11138  TBC1 domain family member 8
AliasesAD3; GRAMD8; HBLP1; TBC1D8A; 
VRP
GeneCards (Weizmann)TBC1D8
Ensembl hg19 (Hinxton)ENSG00000204634 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000204634 [Gene_View]  chr2:101007228-101151447 [Contig_View]  TBC1D8 [Vega]
ICGC DataPortalENSG00000204634
TCGA cBioPortalTBC1D8
AceView (NCBI)TBC1D8
Genatlas (Paris)TBC1D8
WikiGenes11138
SOURCE (Princeton)TBC1D8
Genetics Home Reference (NIH)TBC1D8
Genomic and cartography
GoldenPath hg38 (UCSC)TBC1D8  -     chr2:101007228-101151447 -  2q11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TBC1D8  -     2q11.2   [Description]    (hg19-Feb_2009)
EnsemblTBC1D8 - 2q11.2 [CytoView hg19]  TBC1D8 - 2q11.2 [CytoView hg38]
Mapping of homologs : NCBITBC1D8 [Mapview hg19]  TBC1D8 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB017114 AB449889 AK000748 AK292826 AK300533
RefSeq transcript (Entrez)NM_001102426 NM_001330348 NM_007063
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TBC1D8
Cluster EST : UnigeneHs.442657 [ NCBI ]
CGAP (NCI)Hs.442657
Alternative Splicing GalleryENSG00000204634
Gene ExpressionTBC1D8 [ NCBI-GEO ]   TBC1D8 [ EBI - ARRAY_EXPRESS ]   TBC1D8 [ SEEK ]   TBC1D8 [ MEM ]
Gene Expression Viewer (FireBrowse)TBC1D8 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11138
GTEX Portal (Tissue expression)TBC1D8
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95759   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO95759  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95759
Splice isoforms : SwissVarO95759
PhosPhoSitePlusO95759
Domaine pattern : Prosite (Expaxy)TBC_RABGAP (PS50086)   
Domains : Interpro (EBI)EF-hand-dom_pair    GRAM    Rab-GTPase-TBC_dom   
Domain families : Pfam (Sanger)GRAM (PF02893)    RabGAP-TBC (PF00566)   
Domain families : Pfam (NCBI)pfam02893    pfam00566   
Domain families : Smart (EMBL)GRAM (SM00568)  TBC (SM00164)  
Conserved Domain (NCBI)TBC1D8
DMDM Disease mutations11138
Blocks (Seattle)TBC1D8
SuperfamilyO95759
Human Protein AtlasENSG00000204634
Peptide AtlasO95759
HPRD06752
IPIIPI00952866   IPI00855843   IPI00921812   IPI01014112   
Protein Interaction databases
DIP (DOE-UCLA)O95759
IntAct (EBI)O95759
FunCoupENSG00000204634
BioGRIDTBC1D8
STRING (EMBL)TBC1D8
ZODIACTBC1D8
Ontologies - Pathways
QuickGOO95759
Ontology : AmiGOGTPase activator activity  intracellular  intracellular protein transport  blood circulation  positive regulation of cell proliferation  endomembrane system  membrane  Rab GTPase binding  regulation of vesicle fusion  activation of GTPase activity  regulation of cilium assembly  
Ontology : EGO-EBIGTPase activator activity  intracellular  intracellular protein transport  blood circulation  positive regulation of cell proliferation  endomembrane system  membrane  Rab GTPase binding  regulation of vesicle fusion  activation of GTPase activity  regulation of cilium assembly  
NDEx NetworkTBC1D8
Atlas of Cancer Signalling NetworkTBC1D8
Wikipedia pathwaysTBC1D8
Orthology - Evolution
OrthoDB11138
GeneTree (enSembl)ENSG00000204634
Phylogenetic Trees/Animal Genes : TreeFamTBC1D8
HOVERGENO95759
HOGENOMO95759
Homologs : HomoloGeneTBC1D8
Homology/Alignments : Family Browser (UCSC)TBC1D8
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBC1D8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBC1D8
dbVarTBC1D8
ClinVarTBC1D8
1000_GenomesTBC1D8 
Exome Variant ServerTBC1D8
ExAC (Exome Aggregation Consortium)TBC1D8 (select the gene name)
Genetic variants : HAPMAP11138
Genomic Variants (DGV)TBC1D8 [DGVbeta]
DECIPHERTBC1D8 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTBC1D8 
Mutations
ICGC Data PortalTBC1D8 
TCGA Data PortalTBC1D8 
Broad Tumor PortalTBC1D8
OASIS PortalTBC1D8 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTBC1D8  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTBC1D8
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
BioMutasearch TBC1D8
DgiDB (Drug Gene Interaction Database)TBC1D8
DoCM (Curated mutations)TBC1D8 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TBC1D8 (select a term)
intoGenTBC1D8
Cancer3DTBC1D8(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenTBC1D8
Genetic Testing Registry TBC1D8
NextProtO95759 [Medical]
TSGene11138
GENETestsTBC1D8
Target ValidationTBC1D8
Huge Navigator TBC1D8 [HugePedia]
snp3D : Map Gene to Disease11138
BioCentury BCIQTBC1D8
ClinGenTBC1D8
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD11138
Chemical/Pharm GKB GenePA134885935
Clinical trialTBC1D8
Miscellaneous
canSAR (ICR)TBC1D8 (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTBC1D8
EVEXTBC1D8
GoPubMedTBC1D8
iHOPTBC1D8
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:16:30 CEST 2017

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