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TBC1D4 (TBC1 domain family member 4)

Identity

Alias_namesTBC1 domain family
Alias_symbol (synonym)KIAA0603
AS160
DKFZp779C0666
Other aliasNIDDM5
HGNC (Hugo) TBC1D4
LocusID (NCBI) 9882
Atlas_Id 45678
Location 13q22.2  [Link to chromosome band 13q22]
Location_base_pair Starts at 75858800 and ends at 76056304 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
TBC1D4 (13q22.2) / COMMD6 (13q22.2)TBC1D4 (13q22.2) / TBC1D4 (13q22.2)TBC1D4 (13q22.2) / TRAPPC12 (2p25.3)
ZNF761 (19q13.42) / TBC1D4 (13q22.2)TBC1D4 13q22.2 / COMMD6 13q22.2TBC1D4 13q22.2 TTC15

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)TBC1D4   19165
Cards
Entrez_Gene (NCBI)TBC1D4  9882  TBC1 domain family member 4
AliasesAS160; NIDDM5
GeneCards (Weizmann)TBC1D4
Ensembl hg19 (Hinxton)ENSG00000136111 [Gene_View]  chr13:75858800-76056304 [Contig_View]  TBC1D4 [Vega]
Ensembl hg38 (Hinxton)ENSG00000136111 [Gene_View]  chr13:75858800-76056304 [Contig_View]  TBC1D4 [Vega]
ICGC DataPortalENSG00000136111
TCGA cBioPortalTBC1D4
AceView (NCBI)TBC1D4
Genatlas (Paris)TBC1D4
WikiGenes9882
SOURCE (Princeton)TBC1D4
Genetics Home Reference (NIH)TBC1D4
Genomic and cartography
GoldenPath hg19 (UCSC)TBC1D4  -     chr13:75858800-76056304 -  13q22.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)TBC1D4  -     13q22.2   [Description]    (hg38-Dec_2013)
EnsemblTBC1D4 - 13q22.2 [CytoView hg19]  TBC1D4 - 13q22.2 [CytoView hg38]
Mapping of homologs : NCBITBC1D4 [Mapview hg19]  TBC1D4 [Mapview hg38]
OMIM612465   616087   
Gene and transcription
Genbank (Entrez)AB011175 AB449885 AK300468 AK304091 AK307493
RefSeq transcript (Entrez)NM_001286658 NM_001286659 NM_014832
RefSeq genomic (Entrez)NC_000013 NC_018924 NG_042850 NT_024524 NW_004929388
Consensus coding sequences : CCDS (NCBI)TBC1D4
Cluster EST : UnigeneHs.210891 [ NCBI ]
CGAP (NCI)Hs.210891
Alternative Splicing GalleryENSG00000136111
Gene ExpressionTBC1D4 [ NCBI-GEO ]   TBC1D4 [ EBI - ARRAY_EXPRESS ]   TBC1D4 [ SEEK ]   TBC1D4 [ MEM ]
Gene Expression Viewer (FireBrowse)TBC1D4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9882
GTEX Portal (Tissue expression)TBC1D4
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60343   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO60343  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO60343
Splice isoforms : SwissVarO60343
PhosPhoSitePlusO60343
Domaine pattern : Prosite (Expaxy)PID (PS01179)    TBC_RABGAP (PS50086)   
Domains : Interpro (EBI)DUF3350    PH_dom-like    PTB/PI_dom    Rab-GTPase-TBC_dom   
Domain families : Pfam (Sanger)DUF3350 (PF11830)    PID (PF00640)    RabGAP-TBC (PF00566)   
Domain families : Pfam (NCBI)pfam11830    pfam00640    pfam00566   
Domain families : Smart (EMBL)PTB (SM00462)  TBC (SM00164)  
Conserved Domain (NCBI)TBC1D4
DMDM Disease mutations9882
Blocks (Seattle)TBC1D4
PDB (SRS)3QYB   
PDB (PDBSum)3QYB   
PDB (IMB)3QYB   
PDB (RSDB)3QYB   
Structural Biology KnowledgeBase3QYB   
SCOP (Structural Classification of Proteins)3QYB   
CATH (Classification of proteins structures)3QYB   
SuperfamilyO60343
Human Protein AtlasENSG00000136111
Peptide AtlasO60343
HPRD18164
IPIIPI00926241   IPI00926460   IPI00926756   IPI00926985   IPI00942269   
Protein Interaction databases
DIP (DOE-UCLA)O60343
IntAct (EBI)O60343
FunCoupENSG00000136111
BioGRIDTBC1D4
STRING (EMBL)TBC1D4
ZODIACTBC1D4
Ontologies - Pathways
QuickGOO60343
Ontology : AmiGOGTPase activator activity  intracellular  cytoplasm  intracellular protein transport  endomembrane system  vesicle-mediated transport  Rab GTPase binding  cytoplasmic vesicle membrane  regulation of vesicle fusion  negative regulation of vesicle fusion  cellular response to insulin stimulus  membrane organization  extracellular exosome  activation of GTPase activity  
Ontology : EGO-EBIGTPase activator activity  intracellular  cytoplasm  intracellular protein transport  endomembrane system  vesicle-mediated transport  Rab GTPase binding  cytoplasmic vesicle membrane  regulation of vesicle fusion  negative regulation of vesicle fusion  cellular response to insulin stimulus  membrane organization  extracellular exosome  activation of GTPase activity  
Pathways : KEGGThyroid hormone signaling pathway   
NDEx NetworkTBC1D4
Atlas of Cancer Signalling NetworkTBC1D4
Wikipedia pathwaysTBC1D4
Orthology - Evolution
OrthoDB9882
GeneTree (enSembl)ENSG00000136111
Phylogenetic Trees/Animal Genes : TreeFamTBC1D4
HOVERGENO60343
HOGENOMO60343
Homologs : HomoloGeneTBC1D4
Homology/Alignments : Family Browser (UCSC)TBC1D4
Gene fusions - Rearrangements
Fusion : MitelmanTBC1D4/COMMD6 [13q22.2/13q22.2]  
Fusion : MitelmanTBC1D4/TRAPPC12 [13q22.2/2p25.3]  [t(2;13)(p25;q22)]  
Fusion: TCGATBC1D4 13q22.2 COMMD6 13q22.2 BRCA
Fusion: TCGATBC1D4 13q22.2 TTC15 BLCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBC1D4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBC1D4
dbVarTBC1D4
ClinVarTBC1D4
1000_GenomesTBC1D4 
Exome Variant ServerTBC1D4
ExAC (Exome Aggregation Consortium)TBC1D4 (select the gene name)
Genetic variants : HAPMAP9882
Genomic Variants (DGV)TBC1D4 [DGVbeta]
DECIPHER (Syndromes)13:75858800-76056304  ENSG00000136111
CONAN: Copy Number AnalysisTBC1D4 
Mutations
ICGC Data PortalTBC1D4 
TCGA Data PortalTBC1D4 
Broad Tumor PortalTBC1D4
OASIS PortalTBC1D4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTBC1D4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTBC1D4
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 TBC1D4
DgiDB (Drug Gene Interaction Database)TBC1D4
DoCM (Curated mutations)TBC1D4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TBC1D4 (select a term)
intoGenTBC1D4
Cancer3DTBC1D4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612465    616087   
Orphanet
MedgenTBC1D4
Genetic Testing Registry TBC1D4
NextProtO60343 [Medical]
TSGene9882
GENETestsTBC1D4
Huge Navigator TBC1D4 [HugePedia]
snp3D : Map Gene to Disease9882
BioCentury BCIQTBC1D4
ClinGenTBC1D4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9882
Chemical/Pharm GKB GenePA38807
Clinical trialTBC1D4
Miscellaneous
canSAR (ICR)TBC1D4 (select the gene name)
Probes
Litterature
PubMed58 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTBC1D4
EVEXTBC1D4
GoPubMedTBC1D4
iHOPTBC1D4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:30:27 CET 2017

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