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TBC1D3L (TBC1 domain family member 3L)

Identity

Alias (NCBI)-
HGNC (Hugo) TBC1D3L
HGNC Previous nameTBC1 domain family, member 3L
LocusID (NCBI) 101060376
Atlas_Id 74533
Location 17q12  [Link to chromosome band 17q12]
Location_base_pair Starts at 36323872 and ends at 36334759 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)

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)TBC1D3L   51246
Cards
Entrez_Gene (NCBI)TBC1D3L    TBC1 domain family member 3L
Aliases
GeneCards (Weizmann)TBC1D3L
Ensembl hg19 (Hinxton)ENSG00000274512 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000274512 [Gene_View]  ENSG00000274512 [Sequence]  chr17:36323872-36334759 [Contig_View]  TBC1D3L [Vega]
ICGC DataPortalENSG00000274512
TCGA cBioPortalTBC1D3L
AceView (NCBI)TBC1D3L
Genatlas (Paris)TBC1D3L
SOURCE (Princeton)TBC1D3L
Genetics Home Reference (NIH)TBC1D3L
Genomic and cartography
GoldenPath hg38 (UCSC)TBC1D3L  -     chr17:36323872-36334759 +  17q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TBC1D3L  -     17q12   [Description]    (hg19-Feb_2009)
GoldenPathTBC1D3L - 17q12 [CytoView hg19]  TBC1D3L - 17q12 [CytoView hg38]
ImmunoBaseENSG00000274512
Genome Data Viewer NCBITBC1D3L [Mapview hg19]  
Gene and transcription
Genbank (Entrez)AK095385 AK122833 AX775949 AX775951
RefSeq transcript (Entrez)NM_001291459 NM_001369499 NM_001369500 NM_001369501
Consensus coding sequences : CCDS (NCBI)TBC1D3L
Gene ExpressionTBC1D3L [ NCBI-GEO ]   TBC1D3L [ EBI - ARRAY_EXPRESS ]   TBC1D3L [ SEEK ]   TBC1D3L [ MEM ]
Gene Expression Viewer (FireBrowse)TBC1D3L [ Firebrowse - Broad ]
GenevisibleExpression of TBC1D3L in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)101060376
GTEX Portal (Tissue expression)TBC1D3L
Human Protein AtlasENSG00000274512-TBC1D3L [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtB9A6J9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtB9A6J9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProB9A6J9
PhosPhoSitePlusB9A6J9
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)TBC1D3L
SuperfamilyB9A6J9
AlphaFold pdb e-kbB9A6J9   
Human Protein Atlas [tissue]ENSG00000274512-TBC1D3L [tissue]
Protein Interaction databases
DIP (DOE-UCLA)B9A6J9
IntAct (EBI)B9A6J9
BioGRIDTBC1D3L
STRING (EMBL)TBC1D3L
ZODIACTBC1D3L
Ontologies - Pathways
QuickGOB9A6J9
Ontology : AmiGOGTPase activator activity  plasma membrane  intracellular protein transport  activation of GTPase activity  
Ontology : EGO-EBIGTPase activator activity  plasma membrane  intracellular protein transport  activation of GTPase activity  
NDEx NetworkTBC1D3L
Atlas of Cancer Signalling NetworkTBC1D3L
Wikipedia pathwaysTBC1D3L
Orthology - Evolution
OrthoDB101060376
GeneTree (enSembl)ENSG00000274512
Phylogenetic Trees/Animal Genes : TreeFamTBC1D3L
Homologs : HomoloGeneTBC1D3L
Homology/Alignments : Family Browser (UCSC)TBC1D3L
Gene fusions - Rearrangements
Fusion : QuiverTBC1D3L
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBC1D3L [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBC1D3L
dbVarTBC1D3L
ClinVarTBC1D3L
MonarchTBC1D3L
1000_GenomesTBC1D3L 
Exome Variant ServerTBC1D3L
GNOMAD BrowserENSG00000274512
Varsome BrowserTBC1D3L
ACMGTBC1D3L variants
VarityB9A6J9
Genomic Variants (DGV)TBC1D3L [DGVbeta]
DECIPHERTBC1D3L [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTBC1D3L 
Mutations
ICGC Data PortalTBC1D3L 
TCGA Data PortalTBC1D3L 
Broad Tumor PortalTBC1D3L
OASIS PortalTBC1D3L [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDTBC1D3L
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTBC1D3L
DgiDB (Drug Gene Interaction Database)TBC1D3L
DoCM (Curated mutations)TBC1D3L
CIViC (Clinical Interpretations of Variants in Cancer)TBC1D3L
Cancer3DTBC1D3L
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETTBC1D3L
MedgenTBC1D3L
Genetic Testing Registry TBC1D3L
NextProtB9A6J9 [Medical]
GENETestsTBC1D3L
Target ValidationTBC1D3L
Huge Navigator TBC1D3L [HugePedia]
ClinGenTBC1D3L
Clinical trials, drugs, therapy
MyCancerGenomeTBC1D3L
Protein Interactions : CTDTBC1D3L
Pharm GKB GenePA166123745
PharosB9A6J9
Clinical trialTBC1D3L
Miscellaneous
canSAR (ICR)TBC1D3L
HarmonizomeTBC1D3L
DataMed IndexTBC1D3L
Probes
Litterature
PubMed3 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTBC1D3L
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 16:24:57 CEST 2021

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