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TBC1D30 (TBC1 domain family member 30)

Identity

Alias_namesTBC1 domain family
Alias_symbol (synonym)KIAA0984
Other alias-
HGNC (Hugo) TBC1D30
LocusID (NCBI) 23329
Atlas_Id 54690
Location 12q14.3  [Link to chromosome band 12q14]
Location_base_pair Starts at 65218352 and ends at 65274798 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
AUTS2 (7q11.22) / TBC1D30 (12q14.3)COG5 (7q22.3) / TBC1D30 (12q14.3)MAGI1 (3p14.1) / TBC1D30 (12q14.3)
TBC1D30 (12q14.3) / PPM1H (12q14.1)AUTS2 7q11.22 / TBC1D30 12q14.3COG5 7q22.3 / TBC1D30 12q14.3
MAGI1 3p14.1 / TBC1D30 12q14.3TBC1D30 12q14.3 / PPM1H 12q14.1

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)TBC1D30   29164
Cards
Entrez_Gene (NCBI)TBC1D30  23329  TBC1 domain family member 30
Aliases
GeneCards (Weizmann)TBC1D30
Ensembl hg19 (Hinxton)ENSG00000111490 [Gene_View]  chr12:65218352-65274798 [Contig_View]  TBC1D30 [Vega]
Ensembl hg38 (Hinxton)ENSG00000111490 [Gene_View]  chr12:65218352-65274798 [Contig_View]  TBC1D30 [Vega]
ICGC DataPortalENSG00000111490
TCGA cBioPortalTBC1D30
AceView (NCBI)TBC1D30
Genatlas (Paris)TBC1D30
WikiGenes23329
SOURCE (Princeton)TBC1D30
Genetics Home Reference (NIH)TBC1D30
Genomic and cartography
GoldenPath hg19 (UCSC)TBC1D30  -     chr12:65218352-65274798 +  12q14.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)TBC1D30  -     12q14.3   [Description]    (hg38-Dec_2013)
EnsemblTBC1D30 - 12q14.3 [CytoView hg19]  TBC1D30 - 12q14.3 [CytoView hg38]
Mapping of homologs : NCBITBC1D30 [Mapview hg19]  TBC1D30 [Mapview hg38]
OMIM615077   
Gene and transcription
Genbank (Entrez)AB023201 AB449914 AK055404 AK299508 AL050074
RefSeq transcript (Entrez)NM_015279
RefSeq genomic (Entrez)NC_000012 NC_018923 NT_029419 NW_004929384
Consensus coding sequences : CCDS (NCBI)TBC1D30
Cluster EST : UnigeneHs.192492 [ NCBI ]
CGAP (NCI)Hs.192492
Alternative Splicing GalleryENSG00000111490
Gene ExpressionTBC1D30 [ NCBI-GEO ]   TBC1D30 [ EBI - ARRAY_EXPRESS ]   TBC1D30 [ SEEK ]   TBC1D30 [ MEM ]
Gene Expression Viewer (FireBrowse)TBC1D30 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23329
GTEX Portal (Tissue expression)TBC1D30
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y2I9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y2I9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y2I9
Splice isoforms : SwissVarQ9Y2I9
PhosPhoSitePlusQ9Y2I9
Domaine pattern : Prosite (Expaxy)TBC_RABGAP (PS50086)   
Domains : Interpro (EBI)Rab-GTPase-TBC_dom    Tbc1d30_C   
Domain families : Pfam (Sanger)DUF4682 (PF15733)    RabGAP-TBC (PF00566)   
Domain families : Pfam (NCBI)pfam15733    pfam00566   
Domain families : Smart (EMBL)TBC (SM00164)  
Conserved Domain (NCBI)TBC1D30
DMDM Disease mutations23329
Blocks (Seattle)TBC1D30
SuperfamilyQ9Y2I9
Human Protein AtlasENSG00000111490
Peptide AtlasQ9Y2I9
IPIIPI00180403   IPI00736778   IPI00942609   IPI01018836   IPI01011044   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y2I9
IntAct (EBI)Q9Y2I9
FunCoupENSG00000111490
BioGRIDTBC1D30
STRING (EMBL)TBC1D30
ZODIACTBC1D30
Ontologies - Pathways
QuickGOQ9Y2I9
Ontology : AmiGOGTPase activator activity  plasma membrane  intracellular protein transport  endomembrane system  Rab GTPase binding  regulation of vesicle fusion  ciliary basal body  primary cilium  activation of GTPase activity  negative regulation of cilium assembly  
Ontology : EGO-EBIGTPase activator activity  plasma membrane  intracellular protein transport  endomembrane system  Rab GTPase binding  regulation of vesicle fusion  ciliary basal body  primary cilium  activation of GTPase activity  negative regulation of cilium assembly  
NDEx NetworkTBC1D30
Atlas of Cancer Signalling NetworkTBC1D30
Wikipedia pathwaysTBC1D30
Orthology - Evolution
OrthoDB23329
GeneTree (enSembl)ENSG00000111490
Phylogenetic Trees/Animal Genes : TreeFamTBC1D30
HOVERGENQ9Y2I9
HOGENOMQ9Y2I9
Homologs : HomoloGeneTBC1D30
Homology/Alignments : Family Browser (UCSC)TBC1D30
Gene fusions - Rearrangements
Fusion : MitelmanAUTS2/TBC1D30 [7q11.22/12q14.3]  [t(7;12)(q11;q14)]  
Fusion : MitelmanCOG5/TBC1D30 [7q22.3/12q14.3]  [t(7;12)(q31;q14)]  
Fusion : MitelmanMAGI1/TBC1D30 [3p14.1/12q14.3]  [t(3;12)(p14;q14)]  
Fusion : MitelmanTBC1D30/PPM1H [12q14.3/12q14.1]  [t(12;12)(q14;q14)]  
Fusion: TCGAAUTS2 7q11.22 TBC1D30 12q14.3 LGG
Fusion: TCGACOG5 7q22.3 TBC1D30 12q14.3 PRAD
Fusion: TCGAMAGI1 3p14.1 TBC1D30 12q14.3 PRAD
Fusion: TCGATBC1D30 12q14.3 PPM1H 12q14.1 GBM
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBC1D30 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBC1D30
dbVarTBC1D30
ClinVarTBC1D30
1000_GenomesTBC1D30 
Exome Variant ServerTBC1D30
ExAC (Exome Aggregation Consortium)TBC1D30 (select the gene name)
Genetic variants : HAPMAP23329
Genomic Variants (DGV)TBC1D30 [DGVbeta]
DECIPHER (Syndromes)12:65218352-65274798  ENSG00000111490
CONAN: Copy Number AnalysisTBC1D30 
Mutations
ICGC Data PortalTBC1D30 
TCGA Data PortalTBC1D30 
Broad Tumor PortalTBC1D30
OASIS PortalTBC1D30 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTBC1D30  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTBC1D30
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 TBC1D30
DgiDB (Drug Gene Interaction Database)TBC1D30
DoCM (Curated mutations)TBC1D30 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TBC1D30 (select a term)
intoGenTBC1D30
Cancer3DTBC1D30(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615077   
Orphanet
MedgenTBC1D30
Genetic Testing Registry TBC1D30
NextProtQ9Y2I9 [Medical]
TSGene23329
GENETestsTBC1D30
Huge Navigator TBC1D30 [HugePedia]
snp3D : Map Gene to Disease23329
BioCentury BCIQTBC1D30
ClinGenTBC1D30
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23329
Chemical/Pharm GKB GenePA162405327
Clinical trialTBC1D30
Miscellaneous
canSAR (ICR)TBC1D30 (select the gene name)
Probes
Litterature
PubMed7 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTBC1D30
EVEXTBC1D30
GoPubMedTBC1D30
iHOPTBC1D30
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:30:26 CET 2017

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