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TBC1D3H (TBC1 domain family member 3H)

Identity

Alias (NCBI)-
HGNC (Hugo) TBC1D3H
HGNC Previous nameTBC1 domain family, member 3H
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    TBC1 domain family member 3H
Aliases
GeneCards (Weizmann)TBC1D3H
Ensembl hg19 (Hinxton)ENSG00000274226 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000274226 [Gene_View]  ENSG00000274226 [Sequence]  chr17:36165624-36176592 [Contig_View]  TBC1D3H [Vega]
ICGC DataPortalENSG00000274226
TCGA cBioPortalTBC1D3H
AceView (NCBI)TBC1D3H
Genatlas (Paris)TBC1D3H
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)
GoldenPathTBC1D3H - 17q12 [CytoView hg19]  TBC1D3H - 17q12 [CytoView hg38]
ImmunoBaseENSG00000274226
Genome Data Viewer NCBITBC1D3H [Mapview hg19]  
OMIM610811   
Gene and transcription
Genbank (Entrez)BI597531 BM844606 BQ292452 BX281608 CB131287
RefSeq transcript (Entrez)NM_001123392
Consensus coding sequences : CCDS (NCBI)TBC1D3H
Gene ExpressionTBC1D3H [ NCBI-GEO ]   TBC1D3H [ EBI - ARRAY_EXPRESS ]   TBC1D3H [ SEEK ]   TBC1D3H [ MEM ]
Gene Expression Viewer (FireBrowse)TBC1D3H [ Firebrowse - Broad ]
GenevisibleExpression of TBC1D3H 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
PhosPhoSitePlusP0C7X1
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)TBC1D3H
SuperfamilyP0C7X1
AlphaFold pdb e-kbP0C7X1   
Human Protein Atlas [tissue]ENSG00000274226-TBC1D3H [tissue]
Protein Interaction databases
DIP (DOE-UCLA)P0C7X1
IntAct (EBI)P0C7X1
BioGRIDTBC1D3H
STRING (EMBL)TBC1D3H
ZODIACTBC1D3H
Ontologies - Pathways
QuickGOP0C7X1
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 NetworkTBC1D3H
Atlas of Cancer Signalling NetworkTBC1D3H
Wikipedia pathwaysTBC1D3H
Orthology - Evolution
OrthoDB729877
GeneTree (enSembl)ENSG00000274226
Phylogenetic Trees/Animal Genes : TreeFamTBC1D3H
Homologs : HomoloGeneTBC1D3H
Homology/Alignments : Family Browser (UCSC)TBC1D3H
Gene fusions - Rearrangements
Fusion : QuiverTBC1D3H
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBC1D3H [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBC1D3H
dbVarTBC1D3H
ClinVarTBC1D3H
MonarchTBC1D3H
1000_GenomesTBC1D3H 
Exome Variant ServerTBC1D3H
GNOMAD BrowserENSG00000274226
Varsome BrowserTBC1D3H
ACMGTBC1D3H variants
VarityP0C7X1
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)[gene] [transcripts] [variants]
BioMutaTBC1D3H
DgiDB (Drug Gene Interaction Database)TBC1D3H
DoCM (Curated mutations)TBC1D3H
CIViC (Clinical Interpretations of Variants in Cancer)TBC1D3H
Cancer3DTBC1D3H
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610811   
Orphanet
DisGeNETTBC1D3H
MedgenTBC1D3H
Genetic Testing Registry TBC1D3H
NextProtP0C7X1 [Medical]
GENETestsTBC1D3H
Target ValidationTBC1D3H
Huge Navigator TBC1D3H [HugePedia]
ClinGenTBC1D3H
Clinical trials, drugs, therapy
MyCancerGenomeTBC1D3H
Protein Interactions : CTDTBC1D3H
Pharm GKB GenePA145007654
PharosP0C7X1
Clinical trialTBC1D3H
Miscellaneous
canSAR (ICR)TBC1D3H
HarmonizomeTBC1D3H
DataMed IndexTBC1D3H
Probes
Litterature
PubMed6 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTBC1D3H
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 15:34:25 CEST 2021

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