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TBC1D22A (TBC1 domain family member 22A)

Identity

Alias_namesC22orf4
chromosome 22 open reading frame 4
TBC1 domain family, member 22A
Other aliasHSC79E021
HGNC (Hugo) TBC1D22A
LocusID (NCBI) 25771
Atlas_Id 56009
Location 22q13.31  [Link to chromosome band 22q13]
Location_base_pair Starts at 46762617 and ends at 47175699 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CGNL1 (15q21.3) / TBC1D22A (22q13.31)POC1A (3p21.2) / TBC1D22A (22q13.31)TBC1D22A (22q13.31) / BACH2 (6q15)
TBC1D22A (22q13.31) / GCAT (22q13.1)TBC1D22A (22q13.31) / GKN1 (2p13.3)TBC1D22A (22q13.31) / GRAMD4 (22q13.31)
TBC1D22A (22q13.31) / GRAP2 (22q13.1)TBC1D22A (22q13.31) / OTUD7A (15q13.3)TBC1D22A (22q13.31) / POLDIP3 (22q13.2)
TBC1D22A (22q13.31) / PRG3 (11q12.1)TBC1D22A (22q13.31) / RIBC2 (22q13.31)TBC1D22A (22q13.31) / TSPAN4 (11p15.5)
TBCE (1q42.3) / TBC1D22A (22q13.31)

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)TBC1D22A   1309
Cards
Entrez_Gene (NCBI)TBC1D22A  25771  TBC1 domain family member 22A
AliasesC22orf4; HSC79E021
GeneCards (Weizmann)TBC1D22A
Ensembl hg19 (Hinxton)ENSG00000054611 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000054611 [Gene_View]  chr22:46762617-47175699 [Contig_View]  TBC1D22A [Vega]
ICGC DataPortalENSG00000054611
TCGA cBioPortalTBC1D22A
AceView (NCBI)TBC1D22A
Genatlas (Paris)TBC1D22A
WikiGenes25771
SOURCE (Princeton)TBC1D22A
Genetics Home Reference (NIH)TBC1D22A
Genomic and cartography
GoldenPath hg38 (UCSC)TBC1D22A  -     chr22:46762617-47175699 +  22q13.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TBC1D22A  -     22q13.31   [Description]    (hg19-Feb_2009)
EnsemblTBC1D22A - 22q13.31 [CytoView hg19]  TBC1D22A - 22q13.31 [CytoView hg38]
Mapping of homologs : NCBITBC1D22A [Mapview hg19]  TBC1D22A [Mapview hg38]
OMIM616879   
Gene and transcription
Genbank (Entrez)AB449908 AK000851 AK055591 AK125705 AK127653
RefSeq transcript (Entrez)NM_001284303 NM_001284304 NM_001284305 NM_014346
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TBC1D22A
Cluster EST : UnigeneHs.435044 [ NCBI ]
CGAP (NCI)Hs.435044
Alternative Splicing GalleryENSG00000054611
Gene ExpressionTBC1D22A [ NCBI-GEO ]   TBC1D22A [ EBI - ARRAY_EXPRESS ]   TBC1D22A [ SEEK ]   TBC1D22A [ MEM ]
Gene Expression Viewer (FireBrowse)TBC1D22A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)25771
GTEX Portal (Tissue expression)TBC1D22A
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WUA7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WUA7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WUA7
Splice isoforms : SwissVarQ8WUA7
PhosPhoSitePlusQ8WUA7
Domaine pattern : Prosite (Expaxy)TBC_RABGAP (PS50086)   
Domains : Interpro (EBI)Rab-GTPase-TBC_dom   
Domain families : Pfam (Sanger)RabGAP-TBC (PF00566)   
Domain families : Pfam (NCBI)pfam00566   
Domain families : Smart (EMBL)TBC (SM00164)  
Conserved Domain (NCBI)TBC1D22A
DMDM Disease mutations25771
Blocks (Seattle)TBC1D22A
PDB (SRS)2QFZ   
PDB (PDBSum)2QFZ   
PDB (IMB)2QFZ   
PDB (RSDB)2QFZ   
Structural Biology KnowledgeBase2QFZ   
SCOP (Structural Classification of Proteins)2QFZ   
CATH (Classification of proteins structures)2QFZ   
SuperfamilyQ8WUA7
Human Protein AtlasENSG00000054611
Peptide AtlasQ8WUA7
HPRD15474
IPIIPI00011032   IPI00413005   IPI00445622   IPI00879388   IPI00879719   IPI00879991   IPI00879836   
Protein Interaction databases
DIP (DOE-UCLA)Q8WUA7
IntAct (EBI)Q8WUA7
FunCoupENSG00000054611
BioGRIDTBC1D22A
STRING (EMBL)TBC1D22A
ZODIACTBC1D22A
Ontologies - Pathways
QuickGOQ8WUA7
Ontology : AmiGOGTPase activator activity  protein binding  intracellular  intracellular protein transport  endomembrane system  Rab GTPase binding  regulation of vesicle fusion  protein homodimerization activity  14-3-3 protein binding  activation of GTPase activity  regulation of cilium assembly  
Ontology : EGO-EBIGTPase activator activity  protein binding  intracellular  intracellular protein transport  endomembrane system  Rab GTPase binding  regulation of vesicle fusion  protein homodimerization activity  14-3-3 protein binding  activation of GTPase activity  regulation of cilium assembly  
NDEx NetworkTBC1D22A
Atlas of Cancer Signalling NetworkTBC1D22A
Wikipedia pathwaysTBC1D22A
Orthology - Evolution
OrthoDB25771
GeneTree (enSembl)ENSG00000054611
Phylogenetic Trees/Animal Genes : TreeFamTBC1D22A
HOVERGENQ8WUA7
HOGENOMQ8WUA7
Homologs : HomoloGeneTBC1D22A
Homology/Alignments : Family Browser (UCSC)TBC1D22A
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBC1D22A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBC1D22A
dbVarTBC1D22A
ClinVarTBC1D22A
1000_GenomesTBC1D22A 
Exome Variant ServerTBC1D22A
ExAC (Exome Aggregation Consortium)TBC1D22A (select the gene name)
Genetic variants : HAPMAP25771
Genomic Variants (DGV)TBC1D22A [DGVbeta]
DECIPHERTBC1D22A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTBC1D22A 
Mutations
ICGC Data PortalTBC1D22A 
TCGA Data PortalTBC1D22A 
Broad Tumor PortalTBC1D22A
OASIS PortalTBC1D22A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTBC1D22A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTBC1D22A
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch TBC1D22A
DgiDB (Drug Gene Interaction Database)TBC1D22A
DoCM (Curated mutations)TBC1D22A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TBC1D22A (select a term)
intoGenTBC1D22A
Cancer3DTBC1D22A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616879   
Orphanet
MedgenTBC1D22A
Genetic Testing Registry TBC1D22A
NextProtQ8WUA7 [Medical]
TSGene25771
GENETestsTBC1D22A
Target ValidationTBC1D22A
Huge Navigator TBC1D22A [HugePedia]
snp3D : Map Gene to Disease25771
BioCentury BCIQTBC1D22A
ClinGenTBC1D22A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD25771
Chemical/Pharm GKB GenePA25888
Clinical trialTBC1D22A
Miscellaneous
canSAR (ICR)TBC1D22A (select the gene name)
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTBC1D22A
EVEXTBC1D22A
GoPubMedTBC1D22A
iHOPTBC1D22A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 1 17:16:26 CEST 2017

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