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TBC1D7 (TBC1 domain family member 7)

Identity

Alias_namesTBC1 domain family
Alias_symbol (synonym)dJ257A7.3
FLJ32666
Other aliasMGCPH
PIG51
TBC7
HGNC (Hugo) TBC1D7
LocusID (NCBI) 51256
Atlas_Id 51525
Location 6p24.1  [Link to chromosome band 6p24]
Location_base_pair Starts at 13304951 and ends at 13328583 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)
TBC1D7 (6p24.1) / TBC1D7 (6p24.1)

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)TBC1D7   21066
Cards
Entrez_Gene (NCBI)TBC1D7  51256  TBC1 domain family member 7
AliasesMGCPH; PIG51; TBC7
GeneCards (Weizmann)TBC1D7
Ensembl hg19 (Hinxton)ENSG00000145979 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000145979 [Gene_View]  ENSG00000145979 [Sequence]  chr6:13304951-13328583 [Contig_View]  TBC1D7 [Vega]
ICGC DataPortalENSG00000145979
TCGA cBioPortalTBC1D7
AceView (NCBI)TBC1D7
Genatlas (Paris)TBC1D7
WikiGenes51256
SOURCE (Princeton)TBC1D7
Genetics Home Reference (NIH)TBC1D7
Genomic and cartography
GoldenPath hg38 (UCSC)TBC1D7  -     chr6:13304951-13328583 -  6p24.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TBC1D7  -     6p24.1   [Description]    (hg19-Feb_2009)
EnsemblTBC1D7 - 6p24.1 [CytoView hg19]  TBC1D7 - 6p24.1 [CytoView hg38]
Mapping of homologs : NCBITBC1D7 [Mapview hg19]  TBC1D7 [Mapview hg38]
OMIM612655   
Gene and transcription
Genbank (Entrez)AB449888 AF151073 AK223445 AL833474 AY542308
RefSeq transcript (Entrez)NM_001143964 NM_001143965 NM_001143966 NM_001258457 NM_001318805 NM_001318806 NM_016495
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TBC1D7
Cluster EST : UnigeneHs.484678 [ NCBI ]
CGAP (NCI)Hs.484678
Alternative Splicing GalleryENSG00000145979
Gene ExpressionTBC1D7 [ NCBI-GEO ]   TBC1D7 [ EBI - ARRAY_EXPRESS ]   TBC1D7 [ SEEK ]   TBC1D7 [ MEM ]
Gene Expression Viewer (FireBrowse)TBC1D7 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51256
GTEX Portal (Tissue expression)TBC1D7
Human Protein AtlasENSG00000145979-TBC1D7 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9P0N9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9P0N9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9P0N9
Splice isoforms : SwissVarQ9P0N9
PhosPhoSitePlusQ9P0N9
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   
Conserved Domain (NCBI)TBC1D7
DMDM Disease mutations51256
Blocks (Seattle)TBC1D7
PDB (SRS)3QWL    4Z6Y    5EJC   
PDB (PDBSum)3QWL    4Z6Y    5EJC   
PDB (IMB)3QWL    4Z6Y    5EJC   
PDB (RSDB)3QWL    4Z6Y    5EJC   
Structural Biology KnowledgeBase3QWL    4Z6Y    5EJC   
SCOP (Structural Classification of Proteins)3QWL    4Z6Y    5EJC   
CATH (Classification of proteins structures)3QWL    4Z6Y    5EJC   
SuperfamilyQ9P0N9
Human Protein Atlas [tissue]ENSG00000145979-TBC1D7 [tissue]
Peptide AtlasQ9P0N9
HPRD18165
IPIIPI00009425   IPI00794257   IPI00642601   IPI00641647   IPI00065460   IPI00871459   IPI00644942   IPI00645471   IPI00640168   IPI00643529   
Protein Interaction databases
DIP (DOE-UCLA)Q9P0N9
IntAct (EBI)Q9P0N9
FunCoupENSG00000145979
BioGRIDTBC1D7
STRING (EMBL)TBC1D7
ZODIACTBC1D7
Ontologies - Pathways
QuickGOQ9P0N9
Ontology : AmiGOGTPase activator activity  GTPase activator activity  protein binding  cytosol  Rab GTPase binding  Rab GTPase binding  positive regulation of protein ubiquitination  cytoplasmic vesicle  negative regulation of TOR signaling  negative regulation of TOR signaling  ciliary basal body  positive regulation of GTPase activity  response to growth factor  activation of GTPase activity  activation of GTPase activity  negative regulation of cilium assembly  
Ontology : EGO-EBIGTPase activator activity  GTPase activator activity  protein binding  cytosol  Rab GTPase binding  Rab GTPase binding  positive regulation of protein ubiquitination  cytoplasmic vesicle  negative regulation of TOR signaling  negative regulation of TOR signaling  ciliary basal body  positive regulation of GTPase activity  response to growth factor  activation of GTPase activity  activation of GTPase activity  negative regulation of cilium assembly  
NDEx NetworkTBC1D7
Atlas of Cancer Signalling NetworkTBC1D7
Wikipedia pathwaysTBC1D7
Orthology - Evolution
OrthoDB51256
GeneTree (enSembl)ENSG00000145979
Phylogenetic Trees/Animal Genes : TreeFamTBC1D7
HOVERGENQ9P0N9
HOGENOMQ9P0N9
Homologs : HomoloGeneTBC1D7
Homology/Alignments : Family Browser (UCSC)TBC1D7
Gene fusions - Rearrangements
Fusion : QuiverTBC1D7
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBC1D7 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBC1D7
dbVarTBC1D7
ClinVarTBC1D7
1000_GenomesTBC1D7 
Exome Variant ServerTBC1D7
ExAC (Exome Aggregation Consortium)ENSG00000145979
GNOMAD BrowserENSG00000145979
Varsome BrowserTBC1D7
Genetic variants : HAPMAP51256
Genomic Variants (DGV)TBC1D7 [DGVbeta]
DECIPHERTBC1D7 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTBC1D7 
Mutations
ICGC Data PortalTBC1D7 
TCGA Data PortalTBC1D7 
Broad Tumor PortalTBC1D7
OASIS PortalTBC1D7 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTBC1D7  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTBC1D7
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 TBC1D7
DgiDB (Drug Gene Interaction Database)TBC1D7
DoCM (Curated mutations)TBC1D7 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TBC1D7 (select a term)
intoGenTBC1D7
Cancer3DTBC1D7(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612655   
Orphanet20223   
DisGeNETTBC1D7
MedgenTBC1D7
Genetic Testing Registry TBC1D7
NextProtQ9P0N9 [Medical]
TSGene51256
GENETestsTBC1D7
Target ValidationTBC1D7
Huge Navigator TBC1D7 [HugePedia]
snp3D : Map Gene to Disease51256
BioCentury BCIQTBC1D7
ClinGenTBC1D7
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51256
Chemical/Pharm GKB GenePA134929978
Clinical trialTBC1D7
Miscellaneous
canSAR (ICR)TBC1D7 (select the gene name)
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTBC1D7
EVEXTBC1D7
GoPubMedTBC1D7
iHOPTBC1D7
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 Nov 6 11:43:56 CET 2018

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