Atlas of Genetics and Cytogenetics in Oncology and Haematology


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TBC1D3H (TBC1 domain family member 3H)

Identity

Alias_namesTBC1 domain family
Other alias-
HGNC (Hugo) TBC1D3H
LocusID (NCBI) 729877
Atlas_Id 56263
Location 17q12  [Link to chromosome band 17q12]
Location_base_pair Starts at 36165624 and ends at 36176592 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)TBC1D3H   30708
Cards
Entrez_Gene (NCBI)TBC1D3H  729877  TBC1 domain family member 3H
Aliases
GeneCards (Weizmann)TBC1D3H
Ensembl hg19 (Hinxton)ENSG00000274226 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000274226 [Gene_View]  chr17:36165624-36176592 [Contig_View]  TBC1D3H [Vega]
ICGC DataPortalENSG00000274226
TCGA cBioPortalTBC1D3H
AceView (NCBI)TBC1D3H
Genatlas (Paris)TBC1D3H
WikiGenes729877
SOURCE (Princeton)TBC1D3H
Genetics Home Reference (NIH)TBC1D3H
Genomic and cartography
GoldenPath hg38 (UCSC)TBC1D3H  -     chr17:36165624-36176592 -  17q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TBC1D3H  -     17q12   [Description]    (hg19-Feb_2009)
EnsemblTBC1D3H - 17q12 [CytoView hg19]  TBC1D3H - 17q12 [CytoView hg38]
Mapping of homologs : NCBITBC1D3H [Mapview hg19]  TBC1D3H [Mapview hg38]
OMIM610811   
Gene and transcription
Genbank (Entrez)BI597531 BM844606 BQ292452 BX281608 CB131287
RefSeq transcript (Entrez)NM_001123392
RefSeq genomic (Entrez)NC_000017 NC_018928 NT_187614
Consensus coding sequences : CCDS (NCBI)TBC1D3H
Cluster EST : UnigeneHs.743999 [ NCBI ]
CGAP (NCI)Hs.743999
Alternative Splicing GalleryENSG00000274226
Gene ExpressionTBC1D3H [ NCBI-GEO ]   TBC1D3H [ EBI - ARRAY_EXPRESS ]   TBC1D3H [ SEEK ]   TBC1D3H [ MEM ]
Gene Expression Viewer (FireBrowse)TBC1D3H [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)729877
GTEX Portal (Tissue expression)TBC1D3H
Human Protein AtlasENSG00000274226-TBC1D3H [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP0C7X1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP0C7X1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP0C7X1
Splice isoforms : SwissVarP0C7X1
PhosPhoSitePlusP0C7X1
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)TBC1D3H
DMDM Disease mutations729877
Blocks (Seattle)TBC1D3H
SuperfamilyP0C7X1
Human Protein Atlas [tissue]ENSG00000274226-TBC1D3H [tissue]
Peptide AtlasP0C7X1
IPIIPI00409701   IPI00895782   IPI01013898   IPI00788034   
Protein Interaction databases
DIP (DOE-UCLA)P0C7X1
IntAct (EBI)P0C7X1
FunCoupENSG00000274226
BioGRIDTBC1D3H
STRING (EMBL)TBC1D3H
ZODIACTBC1D3H
Ontologies - Pathways
QuickGOP0C7X1
Ontology : AmiGOGTPase activator activity  intracellular  plasma membrane  intracellular protein transport  endomembrane system  Rab GTPase binding  regulation of vesicle fusion  activation of GTPase activity  
Ontology : EGO-EBIGTPase activator activity  intracellular  plqsma ee-brane  intracellular protein transport  endomembrane system  Rab GTPase binding  regulation of vesicle fusion  activation of GTPase activity  
NDEx NetworkTBC1D3H
Atlas of Cancer Signalling NetworkTBC1D3H
Wikipedia pathwaysTBC1D3H
Orthology - Evolution
OrthoDB729877
GeneTree (enSembl)ENSG00000274226
Phylogenetic Trees/Animal Genes : TreeFamTBC1D3H
HOVERGENP0C7X1
HOGENOMP0C7X1
Homologs : HomoloGeneTBC1D3H
Homology/Alignments : Family Browser (UCSC)TBC1D3H
Gene fusions - Rearrangements
Tumor Fusion PortalTBC1D3H
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBC1D3H [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBC1D3H
dbVarTBC1D3H
ClinVarTBC1D3H
1000_GenomesTBC1D3H 
Exome Variant ServerTBC1D3H
ExAC (Exome Aggregation Consortium)ENSG00000274226
GNOMAD BrowserENSG00000274226
Genetic variants : HAPMAP729877
Genomic Variants (DGV)TBC1D3H [DGVbeta]
DECIPHERTBC1D3H [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTBC1D3H 
Mutations
ICGC Data PortalTBC1D3H 
TCGA Data PortalTBC1D3H 
Broad Tumor PortalTBC1D3H
OASIS PortalTBC1D3H [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDTBC1D3H
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 TBC1D3H
DgiDB (Drug Gene Interaction Database)TBC1D3H
DoCM (Curated mutations)TBC1D3H (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TBC1D3H (select a term)
intoGenTBC1D3H
Cancer3DTBC1D3H(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610811   
Orphanet
DisGeNETTBC1D3H
MedgenTBC1D3H
Genetic Testing Registry TBC1D3H
NextProtP0C7X1 [Medical]
TSGene729877
GENETestsTBC1D3H
Target ValidationTBC1D3H
Huge Navigator TBC1D3H [HugePedia]
snp3D : Map Gene to Disease729877
BioCentury BCIQTBC1D3H
ClinGenTBC1D3H
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD729877
Chemical/Pharm GKB GenePA145007654
Clinical trialTBC1D3H
Miscellaneous
canSAR (ICR)TBC1D3H (select the gene name)
Probes
Litterature
PubMed5 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTBC1D3H
EVEXTBC1D3H
GoPubMedTBC1D3H
iHOPTBC1D3H
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:37:48 CET 2017

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