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TBC1D10A (TBC1 domain family member 10A)

Identity

Alias_namesTBC1D10
TBC1 domain family, member 10
TBC1 domain family, member 10A
Alias_symbol (synonym)EPI64
AC004997.C22.2
Other aliasdJ130H16.1
dJ130H16.2
HGNC (Hugo) TBC1D10A
LocusID (NCBI) 83874
Atlas_Id 56475
Location 22q12.2  [Link to chromosome band 22q12]
Location_base_pair Starts at 30291990 and ends at 30326966 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
DANCR (4q12) / TBC1D10A (22q12.2)MALAT1 (11q13.1) / TBC1D10A (22q12.2)TBC1D10A (22q12.2) / POLR3H (22q13.2)

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)TBC1D10A   23609
Cards
Entrez_Gene (NCBI)TBC1D10A  83874  TBC1 domain family member 10A
AliasesEPI64; TBC1D10; dJ130H16.1; dJ130H16.2
GeneCards (Weizmann)TBC1D10A
Ensembl hg19 (Hinxton)ENSG00000099992 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000099992 [Gene_View]  chr22:30291990-30326966 [Contig_View]  TBC1D10A [Vega]
ICGC DataPortalENSG00000099992
TCGA cBioPortalTBC1D10A
AceView (NCBI)TBC1D10A
Genatlas (Paris)TBC1D10A
WikiGenes83874
SOURCE (Princeton)TBC1D10A
Genetics Home Reference (NIH)TBC1D10A
Genomic and cartography
GoldenPath hg38 (UCSC)TBC1D10A  -     chr22:30291990-30326966 -  22q12.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TBC1D10A  -     22q12.2   [Description]    (hg19-Feb_2009)
EnsemblTBC1D10A - 22q12.2 [CytoView hg19]  TBC1D10A - 22q12.2 [CytoView hg38]
Mapping of homologs : NCBITBC1D10A [Mapview hg19]  TBC1D10A [Mapview hg38]
OMIM610020   
Gene and transcription
Genbank (Entrez)AB449894 AF331038 AK074656 AK093231 AK127939
RefSeq transcript (Entrez)NM_001204240 NM_031937
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TBC1D10A
Cluster EST : UnigeneHs.655273 [ NCBI ]
CGAP (NCI)Hs.655273
Alternative Splicing GalleryENSG00000099992
Gene ExpressionTBC1D10A [ NCBI-GEO ]   TBC1D10A [ EBI - ARRAY_EXPRESS ]   TBC1D10A [ SEEK ]   TBC1D10A [ MEM ]
Gene Expression Viewer (FireBrowse)TBC1D10A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)83874
GTEX Portal (Tissue expression)TBC1D10A
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BXI6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BXI6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BXI6
Splice isoforms : SwissVarQ9BXI6
PhosPhoSitePlusQ9BXI6
Domaine pattern : Prosite (Expaxy)TBC_RABGAP (PS50086)   
Domains : Interpro (EBI)Rab-GTPase-TBC_dom   
Domain families : Pfam (Sanger)RabGAP-TBC (PF00566)   
Domain families : Pfam (NCBI)pfam00566   
Domain families : Smart (EMBL)TBC (SM00164)  
Conserved Domain (NCBI)TBC1D10A
DMDM Disease mutations83874
Blocks (Seattle)TBC1D10A
SuperfamilyQ9BXI6
Human Protein AtlasENSG00000099992
Peptide AtlasQ9BXI6
HPRD18162
IPIIPI00011167   IPI00442351   IPI00877716   IPI00878197   IPI00879220   IPI00879455   IPI00879278   
Protein Interaction databases
DIP (DOE-UCLA)Q9BXI6
IntAct (EBI)Q9BXI6
FunCoupENSG00000099992
BioGRIDTBC1D10A
STRING (EMBL)TBC1D10A
ZODIACTBC1D10A
Ontologies - Pathways
QuickGOQ9BXI6
Ontology : AmiGOguanyl-nucleotide exchange factor activity  GTPase activator activity  protein binding  intracellular  cytosol  plasma membrane  microvillus  intracellular protein transport  endomembrane system  Rab GTPase binding  PDZ domain binding  regulation of vesicle fusion  retrograde transport, endosome to Golgi  cadherin binding  positive regulation of proteolysis  membrane organization  extracellular exosome  activation of GTPase activity  activation of cysteine-type endopeptidase activity  regulation of cilium assembly  
Ontology : EGO-EBIguanyl-nucleotide exchange factor activity  GTPase activator activity  protein binding  intracellular  cytosol  plasma membrane  microvillus  intracellular protein transport  endomembrane system  Rab GTPase binding  PDZ domain binding  regulation of vesicle fusion  retrograde transport, endosome to Golgi  cadherin binding  positive regulation of proteolysis  membrane organization  extracellular exosome  activation of GTPase activity  activation of cysteine-type endopeptidase activity  regulation of cilium assembly  
NDEx NetworkTBC1D10A
Atlas of Cancer Signalling NetworkTBC1D10A
Wikipedia pathwaysTBC1D10A
Orthology - Evolution
OrthoDB83874
GeneTree (enSembl)ENSG00000099992
Phylogenetic Trees/Animal Genes : TreeFamTBC1D10A
HOVERGENQ9BXI6
HOGENOMQ9BXI6
Homologs : HomoloGeneTBC1D10A
Homology/Alignments : Family Browser (UCSC)TBC1D10A
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBC1D10A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBC1D10A
dbVarTBC1D10A
ClinVarTBC1D10A
1000_GenomesTBC1D10A 
Exome Variant ServerTBC1D10A
ExAC (Exome Aggregation Consortium)TBC1D10A (select the gene name)
Genetic variants : HAPMAP83874
Genomic Variants (DGV)TBC1D10A [DGVbeta]
DECIPHERTBC1D10A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTBC1D10A 
Mutations
ICGC Data PortalTBC1D10A 
TCGA Data PortalTBC1D10A 
Broad Tumor PortalTBC1D10A
OASIS PortalTBC1D10A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTBC1D10A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTBC1D10A
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 TBC1D10A
DgiDB (Drug Gene Interaction Database)TBC1D10A
DoCM (Curated mutations)TBC1D10A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TBC1D10A (select a term)
intoGenTBC1D10A
Cancer3DTBC1D10A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610020   
Orphanet
MedgenTBC1D10A
Genetic Testing Registry TBC1D10A
NextProtQ9BXI6 [Medical]
TSGene83874
GENETestsTBC1D10A
Target ValidationTBC1D10A
Huge Navigator TBC1D10A [HugePedia]
snp3D : Map Gene to Disease83874
BioCentury BCIQTBC1D10A
ClinGenTBC1D10A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD83874
Chemical/Pharm GKB GenePA134888210
Clinical trialTBC1D10A
Miscellaneous
canSAR (ICR)TBC1D10A (select the gene name)
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTBC1D10A
EVEXTBC1D10A
GoPubMedTBC1D10A
iHOPTBC1D10A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:58:37 CEST 2017

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