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TBC1D30 (TBC1 domain family member 30)

Identity

Alias (NCBI)-
HGNC (Hugo) TBC1D30
HGNC Alias symbKIAA0984
HGNC Previous nameTBC1 domain family, member 30
LocusID (NCBI) 23329
Atlas_Id 54690
Location 12q14.3  [Link to chromosome band 12q14]
Location_base_pair Starts at 64824647 and ends at 64881033 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)
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    TBC1 domain family member 30
Aliases
GeneCards (Weizmann)TBC1D30
Ensembl hg19 (Hinxton)ENSG00000111490 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000111490 [Gene_View]  ENSG00000111490 [Sequence]  chr12:64824647-64881033 [Contig_View]  TBC1D30 [Vega]
ICGC DataPortalENSG00000111490
TCGA cBioPortalTBC1D30
AceView (NCBI)TBC1D30
Genatlas (Paris)TBC1D30
SOURCE (Princeton)TBC1D30
Genetics Home Reference (NIH)TBC1D30
Genomic and cartography
GoldenPath hg38 (UCSC)TBC1D30  -     chr12:64824647-64881033 +  12q14.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TBC1D30  -     12q14.3   [Description]    (hg19-Feb_2009)
GoldenPathTBC1D30 - 12q14.3 [CytoView hg19]  TBC1D30 - 12q14.3 [CytoView hg38]
ImmunoBaseENSG00000111490
Genome Data Viewer NCBITBC1D30 [Mapview hg19]  
OMIM615077   
Gene and transcription
Genbank (Entrez)AB023201 AB449914 AK055404 AK299508 AL050074
RefSeq transcript (Entrez)NM_001330186 NM_001330187 NM_001330188 NM_001364838 NM_015279
Consensus coding sequences : CCDS (NCBI)TBC1D30
Gene ExpressionTBC1D30 [ NCBI-GEO ]   TBC1D30 [ EBI - ARRAY_EXPRESS ]   TBC1D30 [ SEEK ]   TBC1D30 [ MEM ]
Gene Expression Viewer (FireBrowse)TBC1D30 [ Firebrowse - Broad ]
GenevisibleExpression of TBC1D30 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23329
GTEX Portal (Tissue expression)TBC1D30
Human Protein AtlasENSG00000111490-TBC1D30 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ9Y2I9
Domaine pattern : Prosite (Expaxy)TBC_RABGAP (PS50086)   
Domains : Interpro (EBI)Rab-GTPase-TBC_dom    Rab-GTPase_TBC_sf    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
SuperfamilyQ9Y2I9
AlphaFold pdb e-kbQ9Y2I9   
Human Protein Atlas [tissue]ENSG00000111490-TBC1D30 [tissue]
Protein Interaction databases
DIP (DOE-UCLA)Q9Y2I9
IntAct (EBI)Q9Y2I9
BioGRIDTBC1D30
STRING (EMBL)TBC1D30
ZODIACTBC1D30
Ontologies - Pathways
QuickGOQ9Y2I9
Ontology : AmiGOGTPase activator activity  GTPase activator activity  cytosol  plasma membrane  cilium  intracellular protein transport  small GTPase binding  ciliary basal body  positive regulation of GTPase activity  activation of GTPase activity  negative regulation of cilium assembly  
Ontology : EGO-EBIGTPase activator activity  GTPase activator activity  cytosol  plasma membrane  cilium  intracellular protein transport  small GTPase binding  ciliary basal body  positive regulation of GTPase activity  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
Homologs : HomoloGeneTBC1D30
Homology/Alignments : Family Browser (UCSC)TBC1D30
Gene fusions - Rearrangements
Fusion : MitelmanAUTS2/TBC1D30 [7q11.22/12q14.3]  
Fusion : MitelmanCOG5/TBC1D30 [7q22.3/12q14.3]  
Fusion : MitelmanMAGI1/TBC1D30 [3p14.1/12q14.3]  
Fusion : MitelmanTBC1D30/PPM1H [12q14.3/12q14.1]  
Fusion : QuiverTBC1D30
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBC1D30 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBC1D30
dbVarTBC1D30
ClinVarTBC1D30
MonarchTBC1D30
1000_GenomesTBC1D30 
Exome Variant ServerTBC1D30
GNOMAD BrowserENSG00000111490
Varsome BrowserTBC1D30
ACMGTBC1D30 variants
VarityQ9Y2I9
Genomic Variants (DGV)TBC1D30 [DGVbeta]
DECIPHERTBC1D30 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DTBC1D30
Mutations and Diseases : HGMDTBC1D30
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTBC1D30
DgiDB (Drug Gene Interaction Database)TBC1D30
DoCM (Curated mutations)TBC1D30
CIViC (Clinical Interpretations of Variants in Cancer)TBC1D30
Cancer3DTBC1D30
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615077   
Orphanet
DisGeNETTBC1D30
MedgenTBC1D30
Genetic Testing Registry TBC1D30
NextProtQ9Y2I9 [Medical]
GENETestsTBC1D30
Target ValidationTBC1D30
Huge Navigator TBC1D30 [HugePedia]
ClinGenTBC1D30
Clinical trials, drugs, therapy
MyCancerGenomeTBC1D30
Protein Interactions : CTDTBC1D30
Pharm GKB GenePA162405327
PharosQ9Y2I9
Clinical trialTBC1D30
Miscellaneous
canSAR (ICR)TBC1D30
HarmonizomeTBC1D30
DataMed IndexTBC1D30
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTBC1D30
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 15:34:23 CEST 2021

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