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TBC1D24 (TBC1 domain family member 24)

Identity

Alias_namesDFNB86
deafness, autosomal recessive 86
TBC1 domain family, member 24
Alias_symbol (synonym)KIAA1171
TLDC6
DFNA65
Other aliasDOORS
EIEE16
FIME
HGNC (Hugo) TBC1D24
LocusID (NCBI) 57465
Atlas_Id 55985
Location 16p13.3  [Link to chromosome band 16p13]
Location_base_pair Starts at 2475146 and ends at 2505733 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)
NPIPB7 (16q23.1) / TBC1D24 (16p13.3)PRSS53 (16p11.2) / TBC1D24 (16p13.3)TBC1D24 (16p13.3) / CHD4 (12p13.31)
TBC1D24 (16p13.3) / FAM98A (2p22.3)TBC1D24 (16p13.3) / MAU2 (19p13.11)TBC1D24 (16p13.3) / TBC1D24 (16p13.3)

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)TBC1D24   29203
Cards
Entrez_Gene (NCBI)TBC1D24  57465  TBC1 domain family member 24
AliasesDFNA65; DFNB86; DOORS; EIEE16; 
FIME; TLDC6
GeneCards (Weizmann)TBC1D24
Ensembl hg19 (Hinxton)ENSG00000162065 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000162065 [Gene_View]  ENSG00000162065 [Sequence]  chr16:2475146-2505733 [Contig_View]  TBC1D24 [Vega]
ICGC DataPortalENSG00000162065
TCGA cBioPortalTBC1D24
AceView (NCBI)TBC1D24
Genatlas (Paris)TBC1D24
WikiGenes57465
SOURCE (Princeton)TBC1D24
Genetics Home Reference (NIH)TBC1D24
Genomic and cartography
GoldenPath hg38 (UCSC)TBC1D24  -     chr16:2475146-2505733 +  16p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TBC1D24  -     16p13.3   [Description]    (hg19-Feb_2009)
EnsemblTBC1D24 - 16p13.3 [CytoView hg19]  TBC1D24 - 16p13.3 [CytoView hg38]
Mapping of homologs : NCBITBC1D24 [Mapview hg19]  TBC1D24 [Mapview hg38]
OMIM220500   605021   613577   614617   615338   616044   
Gene and transcription
Genbank (Entrez)AB032997 AB449911 AI685478 AK074509 BC112389
RefSeq transcript (Entrez)NM_001199107 NM_020705
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TBC1D24
Cluster EST : UnigeneHs.353087 [ NCBI ]
CGAP (NCI)Hs.353087
Alternative Splicing GalleryENSG00000162065
Gene ExpressionTBC1D24 [ NCBI-GEO ]   TBC1D24 [ EBI - ARRAY_EXPRESS ]   TBC1D24 [ SEEK ]   TBC1D24 [ MEM ]
Gene Expression Viewer (FireBrowse)TBC1D24 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57465
GTEX Portal (Tissue expression)TBC1D24
Human Protein AtlasENSG00000162065-TBC1D24 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9ULP9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9ULP9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9ULP9
Splice isoforms : SwissVarQ9ULP9
PhosPhoSitePlusQ9ULP9
Domains : Interpro (EBI)Rab-GTPase-TBC_dom    Rab-GTPase_TBC_sf    TLDc_dom   
Domain families : Pfam (Sanger)RabGAP-TBC (PF00566)    TLD (PF07534)   
Domain families : Pfam (NCBI)pfam00566    pfam07534   
Domain families : Smart (EMBL)TBC (SM00164)  TLDc (SM00584)  
Conserved Domain (NCBI)TBC1D24
DMDM Disease mutations57465
Blocks (Seattle)TBC1D24
SuperfamilyQ9ULP9
Human Protein Atlas [tissue]ENSG00000162065-TBC1D24 [tissue]
Peptide AtlasQ9ULP9
IPIIPI00297333   IPI00644477   
Protein Interaction databases
DIP (DOE-UCLA)Q9ULP9
IntAct (EBI)Q9ULP9
FunCoupENSG00000162065
BioGRIDTBC1D24
STRING (EMBL)TBC1D24
ZODIACTBC1D24
Ontologies - Pathways
QuickGOQ9ULP9
Ontology : AmiGOGTPase activator activity  protein binding  cytoplasm  plasma membrane  cell junction  neuron projection development  neuromuscular junction  terminal bouton  positive regulation of GTPase activity  regulation of cilium assembly  
Ontology : EGO-EBIGTPase activator activity  protein binding  cytoplasm  plasma membrane  cell junction  neuron projection development  neuromuscular junction  terminal bouton  positive regulation of GTPase activity  regulation of cilium assembly  
NDEx NetworkTBC1D24
Atlas of Cancer Signalling NetworkTBC1D24
Wikipedia pathwaysTBC1D24
Orthology - Evolution
OrthoDB57465
GeneTree (enSembl)ENSG00000162065
Phylogenetic Trees/Animal Genes : TreeFamTBC1D24
HOVERGENQ9ULP9
HOGENOMQ9ULP9
Homologs : HomoloGeneTBC1D24
Homology/Alignments : Family Browser (UCSC)TBC1D24
Gene fusions - Rearrangements
Fusion : QuiverTBC1D24
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBC1D24 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBC1D24
dbVarTBC1D24
ClinVarTBC1D24
1000_GenomesTBC1D24 
Exome Variant ServerTBC1D24
ExAC (Exome Aggregation Consortium)ENSG00000162065
GNOMAD BrowserENSG00000162065
Varsome BrowserTBC1D24
Genetic variants : HAPMAP57465
Genomic Variants (DGV)TBC1D24 [DGVbeta]
DECIPHERTBC1D24 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTBC1D24 
Mutations
ICGC Data PortalTBC1D24 
TCGA Data PortalTBC1D24 
Broad Tumor PortalTBC1D24
OASIS PortalTBC1D24 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTBC1D24  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTBC1D24
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch TBC1D24
DgiDB (Drug Gene Interaction Database)TBC1D24
DoCM (Curated mutations)TBC1D24 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TBC1D24 (select a term)
intoGenTBC1D24
Cancer3DTBC1D24(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM220500    605021    613577    614617    615338    616044   
Orphanet22084    22083    22082    20841    12046    12047    11526   
DisGeNETTBC1D24
MedgenTBC1D24
Genetic Testing Registry TBC1D24
NextProtQ9ULP9 [Medical]
TSGene57465
GENETestsTBC1D24
Target ValidationTBC1D24
Huge Navigator TBC1D24 [HugePedia]
snp3D : Map Gene to Disease57465
BioCentury BCIQTBC1D24
ClinGenTBC1D24
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57465
Chemical/Pharm GKB GenePA144596267
Clinical trialTBC1D24
Miscellaneous
canSAR (ICR)TBC1D24 (select the gene name)
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTBC1D24
EVEXTBC1D24
GoPubMedTBC1D24
iHOPTBC1D24
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 6 11:43:48 CET 2018

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