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TBC1D23 (TBC1 domain family member 23)

Identity

Alias_namesTBC1 domain family
Alias_symbol (synonym)FLJ11046
Other aliasNS4ATP1
HGNC (Hugo) TBC1D23
LocusID (NCBI) 55773
Atlas_Id 40590
Location 3q12.1  [Link to chromosome band 3q12]
Location_base_pair Starts at 99979661 and ends at 100044096 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
TBC1D23 (3q12.1) / ABI3BP (3q12.2)TBC1D23 (3q12.1) / CMSS1 (3q12.1)TBC1D23 3q12.1 / ABI3BP 3q12.2
TBC1D23 3q12.1 C3orf26

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)TBC1D23   25622
Cards
Entrez_Gene (NCBI)TBC1D23  55773  TBC1 domain family member 23
AliasesNS4ATP1
GeneCards (Weizmann)TBC1D23
Ensembl hg19 (Hinxton)ENSG00000036054 [Gene_View]  chr3:99979661-100044096 [Contig_View]  TBC1D23 [Vega]
Ensembl hg38 (Hinxton)ENSG00000036054 [Gene_View]  chr3:99979661-100044096 [Contig_View]  TBC1D23 [Vega]
ICGC DataPortalENSG00000036054
TCGA cBioPortalTBC1D23
AceView (NCBI)TBC1D23
Genatlas (Paris)TBC1D23
WikiGenes55773
SOURCE (Princeton)TBC1D23
Genetics Home Reference (NIH)TBC1D23
Genomic and cartography
GoldenPath hg19 (UCSC)TBC1D23  -     chr3:99979661-100044096 +  3q12.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)TBC1D23  -     3q12.1   [Description]    (hg38-Dec_2013)
EnsemblTBC1D23 - 3q12.1 [CytoView hg19]  TBC1D23 - 3q12.1 [CytoView hg38]
Mapping of homologs : NCBITBC1D23 [Mapview hg19]  TBC1D23 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB449910 AK001750 AK001908 AK092926 AL713684
RefSeq transcript (Entrez)NM_001199198 NM_018309
RefSeq genomic (Entrez)NC_000003 NC_018914 NT_005612 NW_004929311
Consensus coding sequences : CCDS (NCBI)TBC1D23
Cluster EST : UnigeneHs.477003 [ NCBI ]
CGAP (NCI)Hs.477003
Alternative Splicing GalleryENSG00000036054
Gene ExpressionTBC1D23 [ NCBI-GEO ]   TBC1D23 [ EBI - ARRAY_EXPRESS ]   TBC1D23 [ SEEK ]   TBC1D23 [ MEM ]
Gene Expression Viewer (FireBrowse)TBC1D23 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55773
GTEX Portal (Tissue expression)TBC1D23
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NUY8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NUY8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NUY8
Splice isoforms : SwissVarQ9NUY8
PhosPhoSitePlusQ9NUY8
Domaine pattern : Prosite (Expaxy)RHODANESE_3 (PS50206)    TBC_RABGAP (PS50086)   
Domains : Interpro (EBI)Rab-GTPase-TBC_dom    Rhodanese-like_dom   
Domain families : Pfam (Sanger)RabGAP-TBC (PF00566)    Rhodanese (PF00581)   
Domain families : Pfam (NCBI)pfam00566    pfam00581   
Domain families : Smart (EMBL)TBC (SM00164)  
Conserved Domain (NCBI)TBC1D23
DMDM Disease mutations55773
Blocks (Seattle)TBC1D23
SuperfamilyQ9NUY8
Human Protein AtlasENSG00000036054
Peptide AtlasQ9NUY8
HPRD07727
IPIIPI00788879   IPI00549789   IPI00789869   IPI00945884   IPI00789252   
Protein Interaction databases
DIP (DOE-UCLA)Q9NUY8
IntAct (EBI)Q9NUY8
FunCoupENSG00000036054
BioGRIDTBC1D23
STRING (EMBL)TBC1D23
ZODIACTBC1D23
Ontologies - Pathways
QuickGOQ9NUY8
Ontology : AmiGOprotein binding  regulation of tumor necrosis factor production  positive regulation of interleukin-6 production  regulation of inflammatory response  
Ontology : EGO-EBIprotein binding  regulation of tumor necrosis factor production  positive regulation of interleukin-6 production  regulation of inflammatory response  
NDEx NetworkTBC1D23
Atlas of Cancer Signalling NetworkTBC1D23
Wikipedia pathwaysTBC1D23
Orthology - Evolution
OrthoDB55773
GeneTree (enSembl)ENSG00000036054
Phylogenetic Trees/Animal Genes : TreeFamTBC1D23
HOVERGENQ9NUY8
HOGENOMQ9NUY8
Homologs : HomoloGeneTBC1D23
Homology/Alignments : Family Browser (UCSC)TBC1D23
Gene fusions - Rearrangements
Fusion : MitelmanTBC1D23/ABI3BP [3q12.1/3q12.2]  
Fusion : MitelmanTBC1D23/CMSS1 [3q12.1/3q12.1]  [t(3;3)(q12;q12)]  
Fusion: TCGATBC1D23 3q12.1 ABI3BP 3q12.2 HNSC
Fusion: TCGATBC1D23 3q12.1 C3orf26 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBC1D23 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBC1D23
dbVarTBC1D23
ClinVarTBC1D23
1000_GenomesTBC1D23 
Exome Variant ServerTBC1D23
ExAC (Exome Aggregation Consortium)TBC1D23 (select the gene name)
Genetic variants : HAPMAP55773
Genomic Variants (DGV)TBC1D23 [DGVbeta]
DECIPHER (Syndromes)3:99979661-100044096  ENSG00000036054
CONAN: Copy Number AnalysisTBC1D23 
Mutations
ICGC Data PortalTBC1D23 
TCGA Data PortalTBC1D23 
Broad Tumor PortalTBC1D23
OASIS PortalTBC1D23 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTBC1D23  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTBC1D23
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 TBC1D23
DgiDB (Drug Gene Interaction Database)TBC1D23
DoCM (Curated mutations)TBC1D23 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TBC1D23 (select a term)
intoGenTBC1D23
Cancer3DTBC1D23(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenTBC1D23
Genetic Testing Registry TBC1D23
NextProtQ9NUY8 [Medical]
TSGene55773
GENETestsTBC1D23
Huge Navigator TBC1D23 [HugePedia]
snp3D : Map Gene to Disease55773
BioCentury BCIQTBC1D23
ClinGenTBC1D23
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55773
Chemical/Pharm GKB GenePA142670829
Clinical trialTBC1D23
Miscellaneous
canSAR (ICR)TBC1D23 (select the gene name)
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTBC1D23
EVEXTBC1D23
GoPubMedTBC1D23
iHOPTBC1D23
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 13:30:24 CET 2017

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