Atlas of Genetics and Cytogenetics in Oncology and Haematology


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TBC1D2 (TBC1 domain family member 2)

Identity

Alias_namesTBC1 domain family
Alias_symbol (synonym)PARIS1
TBC1D2A
Armus
Other aliasPARIS-1
HGNC (Hugo) TBC1D2
LocusID (NCBI) 55357
Atlas_Id 56425
Location 9q22.33  [Link to chromosome band 9q22]
Location_base_pair Starts at 98198998 and ends at 98255721 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
IKBKAP (9q31.3) / TBC1D2 (9q22.33)

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)TBC1D2   18026
Cards
Entrez_Gene (NCBI)TBC1D2  55357  TBC1 domain family member 2
AliasesPARIS-1; PARIS1; TBC1D2A
GeneCards (Weizmann)TBC1D2
Ensembl hg19 (Hinxton)ENSG00000095383 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000095383 [Gene_View]  chr9:98198998-98255721 [Contig_View]  TBC1D2 [Vega]
ICGC DataPortalENSG00000095383
TCGA cBioPortalTBC1D2
AceView (NCBI)TBC1D2
Genatlas (Paris)TBC1D2
WikiGenes55357
SOURCE (Princeton)TBC1D2
Genetics Home Reference (NIH)TBC1D2
Genomic and cartography
GoldenPath hg38 (UCSC)TBC1D2  -     chr9:98198998-98255721 -  9q22.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TBC1D2  -     9q22.33   [Description]    (hg19-Feb_2009)
EnsemblTBC1D2 - 9q22.33 [CytoView hg19]  TBC1D2 - 9q22.33 [CytoView hg38]
Mapping of homologs : NCBITBC1D2 [Mapview hg19]  TBC1D2 [Mapview hg38]
OMIM609871   
Gene and transcription
Genbank (Entrez)AB209721 AB449882 AF318370 AK026105 AK124772
RefSeq transcript (Entrez)NM_001267571 NM_001267572 NM_018421
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TBC1D2
Cluster EST : UnigeneHs.371016 [ NCBI ]
CGAP (NCI)Hs.371016
Alternative Splicing GalleryENSG00000095383
Gene ExpressionTBC1D2 [ NCBI-GEO ]   TBC1D2 [ EBI - ARRAY_EXPRESS ]   TBC1D2 [ SEEK ]   TBC1D2 [ MEM ]
Gene Expression Viewer (FireBrowse)TBC1D2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55357
GTEX Portal (Tissue expression)TBC1D2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BYX2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BYX2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BYX2
Splice isoforms : SwissVarQ9BYX2
PhosPhoSitePlusQ9BYX2
Domaine pattern : Prosite (Expaxy)PH_DOMAIN (PS50003)    TBC_RABGAP (PS50086)   
Domains : Interpro (EBI)PH_dom-like    PH_domain    Rab-GTPase-TBC_dom   
Domain families : Pfam (Sanger)PH (PF00169)    RabGAP-TBC (PF00566)   
Domain families : Pfam (NCBI)pfam00169    pfam00566   
Domain families : Smart (EMBL)PH (SM00233)  TBC (SM00164)  
Conserved Domain (NCBI)TBC1D2
DMDM Disease mutations55357
Blocks (Seattle)TBC1D2
PDB (SRS)2DHK   
PDB (PDBSum)2DHK   
PDB (IMB)2DHK   
PDB (RSDB)2DHK   
Structural Biology KnowledgeBase2DHK   
SCOP (Structural Classification of Proteins)2DHK   
CATH (Classification of proteins structures)2DHK   
SuperfamilyQ9BYX2
Human Protein AtlasENSG00000095383
Peptide AtlasQ9BYX2
IPIIPI00097495   IPI00969165   IPI00969158   IPI00478568   IPI00969107   IPI00646637   
Protein Interaction databases
DIP (DOE-UCLA)Q9BYX2
IntAct (EBI)Q9BYX2
FunCoupENSG00000095383
BioGRIDTBC1D2
STRING (EMBL)TBC1D2
ZODIACTBC1D2
Ontologies - Pathways
QuickGOQ9BYX2
Ontology : AmiGOGTPase activator activity  protein binding  nucleus  cytosol  intracellular protein transport  endomembrane system  Rab GTPase binding  cell junction  regulation of vesicle fusion  cytoplasmic vesicle  positive regulation of GTPase activity  cadherin binding  activation of GTPase activity  regulation of cilium assembly  
Ontology : EGO-EBIGTPase activator activity  protein binding  nucleus  cytosol  intracellular protein transport  endomembrane system  Rab GTPase binding  cell junction  regulation of vesicle fusion  cytoplasmic vesicle  positive regulation of GTPase activity  cadherin binding  activation of GTPase activity  regulation of cilium assembly  
NDEx NetworkTBC1D2
Atlas of Cancer Signalling NetworkTBC1D2
Wikipedia pathwaysTBC1D2
Orthology - Evolution
OrthoDB55357
GeneTree (enSembl)ENSG00000095383
Phylogenetic Trees/Animal Genes : TreeFamTBC1D2HOVERGENQ9BYX2
HOGENOMQ9BYX2
Homologs : HomoloGeneTBC1D2
Homology/Alignments : Family Browser (UCSC)TBC1D2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBC1D2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBC1D2
dbVarTBC1D2
ClinVarTBC1D2
1000_GenomesTBC1D2 
Exome Variant ServerTBC1D2
ExAC (Exome Aggregation Consortium)TBC1D2 (select the gene name)
Genetic variants : HAPMAP55357
Genomic Variants (DGV)TBC1D2 [DGVbeta]
DECIPHERTBC1D2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTBC1D2 
Mutations
ICGC Data PortalTBC1D2 
TCGA Data PortalTBC1D2 
Broad Tumor PortalTBC1D2
OASIS PortalTBC1D2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTBC1D2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTBC1D2
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 TBC1D2
DgiDB (Drug Gene Interaction Database)TBC1D2
DoCM (Curated mutations)TBC1D2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TBC1D2 (select a term)
intoGenTBC1D2
Cancer3DTBC1D2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609871   
Orphanet
MedgenTBC1D2
Genetic Testing Registry TBC1D2
NextProtQ9BYX2 [Medical]
TSGene55357
GENETestsTBC1D2
Target ValidationTBC1D2
Huge Navigator TBC1D2 [HugePedia]
snp3D : Map Gene to Disease55357
BioCentury BCIQTBC1D2
ClinGenTBC1D2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55357
Chemical/Pharm GKB GenePA38280
Clinical trialTBC1D2
Miscellaneous
canSAR (ICR)TBC1D2 (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTBC1D2
EVEXTBC1D2
GoPubMedTBC1D2
iHOPTBC1D2
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 19:34:16 CEST 2017

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