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TBC1D16 (TBC1 domain family member 16)

Identity

Alias (NCBI)-
HGNC (Hugo) TBC1D16
HGNC Alias symbMGC25062
FLJ20748
HGNC Previous nameTBC1 domain family, member 16
LocusID (NCBI) 125058
Atlas_Id 52050
Location 17q25.3  [Link to chromosome band 17q25]
Location_base_pair Starts at 79932343 and ends at 80035872 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)
LOC100132987 () / TBC1D16 (17q25.3)TBC1D16 (17q25.3) / ATP1B1 (1q24.2)TBC1D16 (17q25.3) / RNF213 (17q25.3)

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

 



Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(17;17)(q25;q25) TBC1D16/RNF213


External links

 

Nomenclature
HGNC (Hugo)TBC1D16   28356
Cards
Entrez_Gene (NCBI)TBC1D16    TBC1 domain family member 16
Aliases
GeneCards (Weizmann)TBC1D16
Ensembl hg19 (Hinxton)ENSG00000167291 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000167291 [Gene_View]  ENSG00000167291 [Sequence]  chr17:79932343-80035872 [Contig_View]  TBC1D16 [Vega]
ICGC DataPortalENSG00000167291
TCGA cBioPortalTBC1D16
AceView (NCBI)TBC1D16
Genatlas (Paris)TBC1D16
SOURCE (Princeton)TBC1D16
Genetics Home Reference (NIH)TBC1D16
Genomic and cartography
GoldenPath hg38 (UCSC)TBC1D16  -     chr17:79932343-80035872 -  17q25.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TBC1D16  -     17q25.3   [Description]    (hg19-Feb_2009)
GoldenPathTBC1D16 - 17q25.3 [CytoView hg19]  TBC1D16 - 17q25.3 [CytoView hg38]
ImmunoBaseENSG00000167291
Genome Data Viewer NCBITBC1D16 [Mapview hg19]  
OMIM616637   
Gene and transcription
Genbank (Entrez)AB449902 AK000755 AK091923 AK097283 AL157485
RefSeq transcript (Entrez)NM_001271844 NM_001271845 NM_001271846 NM_019020
Consensus coding sequences : CCDS (NCBI)TBC1D16
Gene ExpressionTBC1D16 [ NCBI-GEO ]   TBC1D16 [ EBI - ARRAY_EXPRESS ]   TBC1D16 [ SEEK ]   TBC1D16 [ MEM ]
Gene Expression Viewer (FireBrowse)TBC1D16 [ Firebrowse - Broad ]
GenevisibleExpression of TBC1D16 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)125058
GTEX Portal (Tissue expression)TBC1D16
Human Protein AtlasENSG00000167291-TBC1D16 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TBP0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TBP0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TBP0
PhosPhoSitePlusQ8TBP0
Domaine pattern : Prosite (Expaxy)TBC_RABGAP (PS50086)   
Domains : Interpro (EBI)Rab-GTPase-TBC_dom    Rab-GTPase_TBC_sf   
Domain families : Pfam (Sanger)RabGAP-TBC (PF00566)   
Domain families : Pfam (NCBI)pfam00566   
Domain families : Smart (EMBL)TBC (SM00164)  
Conserved Domain (NCBI)TBC1D16
SuperfamilyQ8TBP0
AlphaFold pdb e-kbQ8TBP0   
Human Protein Atlas [tissue]ENSG00000167291-TBC1D16 [tissue]
HPRD10261
Protein Interaction databases
DIP (DOE-UCLA)Q8TBP0
IntAct (EBI)Q8TBP0
BioGRIDTBC1D16
STRING (EMBL)TBC1D16
ZODIACTBC1D16
Ontologies - Pathways
QuickGOQ8TBP0
Ontology : AmiGOregulation of receptor recycling  GTPase activator activity  GTPase activator activity  protein binding  early endosome  early endosome  cytosol  intracellular protein transport  activation of GTPase activity  regulation of cilium assembly  
Ontology : EGO-EBIregulation of receptor recycling  GTPase activator activity  GTPase activator activity  protein binding  early endosome  early endosome  cytosol  intracellular protein transport  activation of GTPase activity  regulation of cilium assembly  
NDEx NetworkTBC1D16
Atlas of Cancer Signalling NetworkTBC1D16
Wikipedia pathwaysTBC1D16
Orthology - Evolution
OrthoDB125058
GeneTree (enSembl)ENSG00000167291
Phylogenetic Trees/Animal Genes : TreeFamTBC1D16
Homologs : HomoloGeneTBC1D16
Homology/Alignments : Family Browser (UCSC)TBC1D16
Gene fusions - Rearrangements
Fusion : MitelmanTBC1D16/RNF213 [17q25.3/17q25.3]  
Fusion : QuiverTBC1D16
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBC1D16 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBC1D16
dbVarTBC1D16
ClinVarTBC1D16
MonarchTBC1D16
1000_GenomesTBC1D16 
Exome Variant ServerTBC1D16
GNOMAD BrowserENSG00000167291
Varsome BrowserTBC1D16
ACMGTBC1D16 variants
VarityQ8TBP0
Genomic Variants (DGV)TBC1D16 [DGVbeta]
DECIPHERTBC1D16 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTBC1D16 
Mutations
ICGC Data PortalTBC1D16 
TCGA Data PortalTBC1D16 
Broad Tumor PortalTBC1D16
OASIS PortalTBC1D16 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTBC1D16  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTBC1D16
Mutations and Diseases : HGMDTBC1D16
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTBC1D16
DgiDB (Drug Gene Interaction Database)TBC1D16
DoCM (Curated mutations)TBC1D16
CIViC (Clinical Interpretations of Variants in Cancer)TBC1D16
Cancer3DTBC1D16
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616637   
Orphanet
DisGeNETTBC1D16
MedgenTBC1D16
Genetic Testing Registry TBC1D16
NextProtQ8TBP0 [Medical]
GENETestsTBC1D16
Target ValidationTBC1D16
Huge Navigator TBC1D16 [HugePedia]
ClinGenTBC1D16
Clinical trials, drugs, therapy
MyCancerGenomeTBC1D16
Protein Interactions : CTDTBC1D16
Pharm GKB GenePA134881634
PharosQ8TBP0
Clinical trialTBC1D16
Miscellaneous
canSAR (ICR)TBC1D16
HarmonizomeTBC1D16
DataMed IndexTBC1D16
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTBC1D16
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 15:34:21 CEST 2021

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