Atlas of Genetics and Cytogenetics in Oncology and Haematology


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TBC1D20 (TBC1 domain family member 20)

Identity

Alias (NCBI)C20orf140
WARBM4
HGNC (Hugo) TBC1D20
HGNC Alias symbdJ852M4.2
HGNC Previous nameC20orf140
HGNC Previous namechromosome 20 open reading frame 140
 TBC1 domain family, member 20
LocusID (NCBI) 128637
Atlas_Id 74519
Location 20p13  [Link to chromosome band 20p13]
Location_base_pair Starts at 435480 and ends at 462533 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)
C5orf24 (5q31.1) / TBC1D20 (20p13)TBC1D20 (20p13) / FN1 (2q35)TBC1D20 (20p13) / RAB29 (1q32.1)

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)TBC1D20   16133
Cards
Entrez_Gene (NCBI)TBC1D20    TBC1 domain family member 20
AliasesC20orf140; WARBM4
GeneCards (Weizmann)TBC1D20
Ensembl hg19 (Hinxton)ENSG00000125875 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000125875 [Gene_View]  ENSG00000125875 [Sequence]  chr20:435480-462533 [Contig_View]  TBC1D20 [Vega]
ICGC DataPortalENSG00000125875
TCGA cBioPortalTBC1D20
AceView (NCBI)TBC1D20
Genatlas (Paris)TBC1D20
SOURCE (Princeton)TBC1D20
Genetics Home Reference (NIH)TBC1D20
Genomic and cartography
GoldenPath hg38 (UCSC)TBC1D20  -     chr20:435480-462533 -  20p13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TBC1D20  -     20p13   [Description]    (hg19-Feb_2009)
GoldenPathTBC1D20 - 20p13 [CytoView hg19]  TBC1D20 - 20p13 [CytoView hg38]
ImmunoBaseENSG00000125875
Genome Data Viewer NCBITBC1D20 [Mapview hg19]  
OMIM611663   615663   
Gene and transcription
Genbank (Entrez)AB449906 AF116909 AK055573 AK092063 AK095110
RefSeq transcript (Entrez)NM_144628
Consensus coding sequences : CCDS (NCBI)TBC1D20
Gene ExpressionTBC1D20 [ NCBI-GEO ]   TBC1D20 [ EBI - ARRAY_EXPRESS ]   TBC1D20 [ SEEK ]   TBC1D20 [ MEM ]
Gene Expression Viewer (FireBrowse)TBC1D20 [ Firebrowse - Broad ]
GenevisibleExpression of TBC1D20 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)128637
GTEX Portal (Tissue expression)TBC1D20
Human Protein AtlasENSG00000125875-TBC1D20 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96BZ9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96BZ9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96BZ9
PhosPhoSitePlusQ96BZ9
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)TBC1D20
PDB (RSDB)4HL4    4HLQ   
PDB Europe4HL4    4HLQ   
PDB (PDBSum)4HL4    4HLQ   
PDB (IMB)4HL4    4HLQ   
Structural Biology KnowledgeBase4HL4    4HLQ   
SCOP (Structural Classification of Proteins)4HL4    4HLQ   
CATH (Classification of proteins structures)4HL4    4HLQ   
SuperfamilyQ96BZ9
AlphaFold pdb e-kbQ96BZ9   
Human Protein Atlas [tissue]ENSG00000125875-TBC1D20 [tissue]
HPRD15472
Protein Interaction databases
DIP (DOE-UCLA)Q96BZ9
IntAct (EBI)Q96BZ9
BioGRIDTBC1D20
STRING (EMBL)TBC1D20
ZODIACTBC1D20
Ontologies - Pathways
QuickGOQ96BZ9
Ontology : AmiGOacrosome assembly  GTPase activator activity  GTPase activator activity  protein binding  endoplasmic reticulum  endoplasmic reticulum membrane  endoplasmic reticulum membrane  endoplasmic reticulum to Golgi vesicle-mediated transport  endoplasmic reticulum to Golgi vesicle-mediated transport  Golgi organization  virion assembly  integral component of Golgi membrane  small GTPase binding  nuclear membrane  endoplasmic reticulum-Golgi intermediate compartment membrane  lipid droplet organization  positive regulation of GTPase activity  positive regulation by host of viral genome replication  positive regulation by virus of viral protein levels in host cell  COPII vesicle coating  lens fiber cell morphogenesis  seminiferous tubule development  COPII-coated vesicle cargo loading  regulation of cilium assembly  positive regulation of ER to Golgi vesicle-mediated transport  
Ontology : EGO-EBIacrosome assembly  GTPase activator activity  GTPase activator activity  protein binding  endoplasmic reticulum  endoplasmic reticulum membrane  endoplasmic reticulum membrane  endoplasmic reticulum to Golgi vesicle-mediated transport  endoplasmic reticulum to Golgi vesicle-mediated transport  Golgi organization  virion assembly  integral component of Golgi membrane  small GTPase binding  nuclear membrane  endoplasmic reticulum-Golgi intermediate compartment membrane  lipid droplet organization  positive regulation of GTPase activity  positive regulation by host of viral genome replication  positive regulation by virus of viral protein levels in host cell  COPII vesicle coating  lens fiber cell morphogenesis  seminiferous tubule development  COPII-coated vesicle cargo loading  regulation of cilium assembly  positive regulation of ER to Golgi vesicle-mediated transport  
NDEx NetworkTBC1D20
Atlas of Cancer Signalling NetworkTBC1D20
Wikipedia pathwaysTBC1D20
Orthology - Evolution
OrthoDB128637
GeneTree (enSembl)ENSG00000125875
Phylogenetic Trees/Animal Genes : TreeFamTBC1D20
Homologs : HomoloGeneTBC1D20
Homology/Alignments : Family Browser (UCSC)TBC1D20
Gene fusions - Rearrangements
Fusion : QuiverTBC1D20
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBC1D20 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBC1D20
dbVarTBC1D20
ClinVarTBC1D20
MonarchTBC1D20
1000_GenomesTBC1D20 
Exome Variant ServerTBC1D20
GNOMAD BrowserENSG00000125875
Varsome BrowserTBC1D20
ACMGTBC1D20 variants
VarityQ96BZ9
Genomic Variants (DGV)TBC1D20 [DGVbeta]
DECIPHERTBC1D20 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTBC1D20 
Mutations
ICGC Data PortalTBC1D20 
TCGA Data PortalTBC1D20 
Broad Tumor PortalTBC1D20
OASIS PortalTBC1D20 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTBC1D20  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTBC1D20
Mutations and Diseases : HGMDTBC1D20
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTBC1D20
DgiDB (Drug Gene Interaction Database)TBC1D20
DoCM (Curated mutations)TBC1D20
CIViC (Clinical Interpretations of Variants in Cancer)TBC1D20
Cancer3DTBC1D20
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611663    615663   
Orphanet2322   
DisGeNETTBC1D20
MedgenTBC1D20
Genetic Testing Registry TBC1D20
NextProtQ96BZ9 [Medical]
GENETestsTBC1D20
Target ValidationTBC1D20
Huge Navigator TBC1D20 [HugePedia]
ClinGenTBC1D20
Clinical trials, drugs, therapy
MyCancerGenomeTBC1D20
Protein Interactions : CTDTBC1D20
Pharm GKB GenePA25683
PharosQ96BZ9
Clinical trialTBC1D20
Miscellaneous
canSAR (ICR)TBC1D20
HarmonizomeTBC1D20
DataMed IndexTBC1D20
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTBC1D20
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 16:24:56 CEST 2021

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