Atlas of Genetics and Cytogenetics in Oncology and Haematology


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TBC1D23 (TBC1 domain family member 23)

Identity

Alias (NCBI)NS4ATP1
PCH11
HGNC (Hugo) TBC1D23
HGNC Alias symbFLJ11046
HGNC Previous nameTBC1 domain family, member 23
LocusID (NCBI) 55773
Atlas_Id 40590
Location 3q12.1  [Link to chromosome band 3q12]
Location_base_pair Starts at 100260992 and ends at 100325236 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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    TBC1 domain family member 23
AliasesNS4ATP1; PCH11
GeneCards (Weizmann)TBC1D23
Ensembl hg19 (Hinxton)ENSG00000036054 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000036054 [Gene_View]  ENSG00000036054 [Sequence]  chr3:100260992-100325236 [Contig_View]  TBC1D23 [Vega]
ICGC DataPortalENSG00000036054
TCGA cBioPortalTBC1D23
AceView (NCBI)TBC1D23
Genatlas (Paris)TBC1D23
SOURCE (Princeton)TBC1D23
Genetics Home Reference (NIH)TBC1D23
Genomic and cartography
GoldenPath hg38 (UCSC)TBC1D23  -     chr3:100260992-100325236 +  3q12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TBC1D23  -     3q12.1   [Description]    (hg19-Feb_2009)
GoldenPathTBC1D23 - 3q12.1 [CytoView hg19]  TBC1D23 - 3q12.1 [CytoView hg38]
ImmunoBaseENSG00000036054
Genome Data Viewer NCBITBC1D23 [Mapview hg19]  
OMIM617687   617695   
Gene and transcription
Genbank (Entrez)AB449910 AK001750 AK001908 AK092926 AL713684
RefSeq transcript (Entrez)NM_001199198 NM_018309
Consensus coding sequences : CCDS (NCBI)TBC1D23
Gene ExpressionTBC1D23 [ NCBI-GEO ]   TBC1D23 [ EBI - ARRAY_EXPRESS ]   TBC1D23 [ SEEK ]   TBC1D23 [ MEM ]
Gene Expression Viewer (FireBrowse)TBC1D23 [ Firebrowse - Broad ]
GenevisibleExpression of TBC1D23 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55773
GTEX Portal (Tissue expression)TBC1D23
Human Protein AtlasENSG00000036054-TBC1D23 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ9NUY8
Domaine pattern : Prosite (Expaxy)RHODANESE_3 (PS50206)    TBC_RABGAP (PS50086)   
Domains : Interpro (EBI)Rab-GTPase-TBC_dom    Rab-GTPase_TBC_sf    Rhodanese-like_dom    Rhodanese-like_dom_sf    TBC1D23   
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
PDB (RSDB)6JL7    6JM5   
PDB Europe6JL7    6JM5   
PDB (PDBSum)6JL7    6JM5   
PDB (IMB)6JL7    6JM5   
Structural Biology KnowledgeBase6JL7    6JM5   
SCOP (Structural Classification of Proteins)6JL7    6JM5   
CATH (Classification of proteins structures)6JL7    6JM5   
SuperfamilyQ9NUY8
AlphaFold pdb e-kbQ9NUY8   
Human Protein Atlas [tissue]ENSG00000036054-TBC1D23 [tissue]
HPRD07727
Protein Interaction databases
DIP (DOE-UCLA)Q9NUY8
IntAct (EBI)Q9NUY8
BioGRIDTBC1D23
STRING (EMBL)TBC1D23
ZODIACTBC1D23
Ontologies - Pathways
QuickGOQ9NUY8
Ontology : AmiGOprotein binding  Golgi apparatus  trans-Golgi network  trans-Golgi network  cytosol  brain development  vesicle-mediated transport  neuron projection development  cytoplasmic vesicle  retrograde transport, endosome to Golgi  retrograde transport, endosome to Golgi  vesicle tethering to Golgi  vesicle tethering to Golgi  embryonic brain development  embryonic brain development  
Ontology : EGO-EBIprotein binding  Golgi apparatus  trans-Golgi network  trans-Golgi network  cytosol  brain development  vesicle-mediated transport  neuron projection development  cytoplasmic vesicle  retrograde transport, endosome to Golgi  retrograde transport, endosome to Golgi  vesicle tethering to Golgi  vesicle tethering to Golgi  embryonic brain development  embryonic brain development  
NDEx NetworkTBC1D23
Atlas of Cancer Signalling NetworkTBC1D23
Wikipedia pathwaysTBC1D23
Orthology - Evolution
OrthoDB55773
GeneTree (enSembl)ENSG00000036054
Phylogenetic Trees/Animal Genes : TreeFamTBC1D23
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]  
Fusion : QuiverTBC1D23
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBC1D23 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBC1D23
dbVarTBC1D23
ClinVarTBC1D23
MonarchTBC1D23
1000_GenomesTBC1D23 
Exome Variant ServerTBC1D23
GNOMAD BrowserENSG00000036054
Varsome BrowserTBC1D23
ACMGTBC1D23 variants
VarityQ9NUY8
Genomic Variants (DGV)TBC1D23 [DGVbeta]
DECIPHERTBC1D23 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DTBC1D23
Mutations and Diseases : HGMDTBC1D23
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTBC1D23
DgiDB (Drug Gene Interaction Database)TBC1D23
DoCM (Curated mutations)TBC1D23
CIViC (Clinical Interpretations of Variants in Cancer)TBC1D23
Cancer3DTBC1D23
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM617687    617695   
Orphanet
DisGeNETTBC1D23
MedgenTBC1D23
Genetic Testing Registry TBC1D23
NextProtQ9NUY8 [Medical]
GENETestsTBC1D23
Target ValidationTBC1D23
Huge Navigator TBC1D23 [HugePedia]
ClinGenTBC1D23
Clinical trials, drugs, therapy
MyCancerGenomeTBC1D23
Protein Interactions : CTDTBC1D23
Pharm GKB GenePA142670829
PharosQ9NUY8
Clinical trialTBC1D23
Miscellaneous
canSAR (ICR)TBC1D23
HarmonizomeTBC1D23
DataMed IndexTBC1D23
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTBC1D23
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:34:22 CEST 2021

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