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TBC1D12 (TBC1 domain family member 12)

Identity

Alias_namesTBC1 domain family
Alias_symbol (synonym)KIAA0608
Other alias-
HGNC (Hugo) TBC1D12
LocusID (NCBI) 23232
Atlas_Id 53771
Location 10q23.33  [Link to chromosome band 10q23]
Location_base_pair Starts at 94402429 and ends at 94536332 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ALCAM (3q13.11) / TBC1D12 (10q23.33)ATXN1 (6p22.3) / TBC1D12 (10q23.33)BAZ2A (12q13.3) / TBC1D12 (10q23.33)
FAM35A (10q23.2) / TBC1D12 (10q23.33)HELLS (10q23.33) / TBC1D12 (10q23.33)TBC1D12 (10q23.33) / EXOC6 (10q23.33)
TBC1D12 (10q23.33) / MORN4 (10q24.2)HELLS 10q23.33 / TBC1D12 10q23.33TBC1D12 10q23.33 / EXOC6 10q23.33
TBC1D12 10q23.33 / MORN4 10q24.2

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)TBC1D12   29082
Cards
Entrez_Gene (NCBI)TBC1D12  23232  TBC1 domain family member 12
Aliases
GeneCards (Weizmann)TBC1D12
Ensembl hg19 (Hinxton)ENSG00000108239 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000108239 [Gene_View]  chr10:94402429-94536332 [Contig_View]  TBC1D12 [Vega]
ICGC DataPortalENSG00000108239
TCGA cBioPortalTBC1D12
AceView (NCBI)TBC1D12
Genatlas (Paris)TBC1D12
WikiGenes23232
SOURCE (Princeton)TBC1D12
Genetics Home Reference (NIH)TBC1D12
Genomic and cartography
GoldenPath hg38 (UCSC)TBC1D12  -     chr10:94402429-94536332 +  10q23.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TBC1D12  -     10q23.33   [Description]    (hg19-Feb_2009)
EnsemblTBC1D12 - 10q23.33 [CytoView hg19]  TBC1D12 - 10q23.33 [CytoView hg38]
Mapping of homologs : NCBITBC1D12 [Mapview hg19]  TBC1D12 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB011180 AB449898 AJ404330 AK090865 AL049956
RefSeq transcript (Entrez)NM_015188
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TBC1D12
Cluster EST : UnigeneHs.500598 [ NCBI ]
CGAP (NCI)Hs.500598
Alternative Splicing GalleryENSG00000108239
Gene ExpressionTBC1D12 [ NCBI-GEO ]   TBC1D12 [ EBI - ARRAY_EXPRESS ]   TBC1D12 [ SEEK ]   TBC1D12 [ MEM ]
Gene Expression Viewer (FireBrowse)TBC1D12 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23232
GTEX Portal (Tissue expression)TBC1D12
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60347   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO60347  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO60347
Splice isoforms : SwissVarO60347
PhosPhoSitePlusO60347
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)TBC1D12
DMDM Disease mutations23232
Blocks (Seattle)TBC1D12
SuperfamilyO60347
Human Protein AtlasENSG00000108239
Peptide AtlasO60347
IPIIPI00847137   
Protein Interaction databases
DIP (DOE-UCLA)O60347
IntAct (EBI)O60347
FunCoupENSG00000108239
BioGRIDTBC1D12
STRING (EMBL)TBC1D12
ZODIACTBC1D12
Ontologies - Pathways
QuickGOO60347
Ontology : AmiGOGTPase activator activity  autophagosome  intracellular protein transport  Rab GTPase binding  regulation of vesicle fusion  recycling endosome  activation of GTPase activity  regulation of autophagosome assembly  
Ontology : EGO-EBIGTPase activator activity  autophagosome  intracellular protein transport  Rab GTPase binding  regulation of vesicle fusion  recycling endosome  activation of GTPase activity  regulation of autophagosome assembly  
NDEx NetworkTBC1D12
Atlas of Cancer Signalling NetworkTBC1D12
Wikipedia pathwaysTBC1D12
Orthology - Evolution
OrthoDB23232
GeneTree (enSembl)ENSG00000108239
Phylogenetic Trees/Animal Genes : TreeFamTBC1D12
HOVERGENO60347
HOGENOMO60347
Homologs : HomoloGeneTBC1D12
Homology/Alignments : Family Browser (UCSC)TBC1D12
Gene fusions - Rearrangements
Fusion : MitelmanHELLS/TBC1D12 [10q23.33/10q23.33]  [t(10;10)(q23;q23)]  
Fusion : MitelmanTBC1D12/EXOC6 [10q23.33/10q23.33]  [t(10;10)(q23;q23)]  
Fusion : MitelmanTBC1D12/MORN4 [10q23.33/10q24.2]  [t(10;10)(q23;q24)]  
Fusion: TCGAHELLS 10q23.33 TBC1D12 10q23.33 BRCA
Fusion: TCGATBC1D12 10q23.33 EXOC6 10q23.33 LUSC
Fusion: TCGATBC1D12 10q23.33 MORN4 10q24.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBC1D12 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBC1D12
dbVarTBC1D12
ClinVarTBC1D12
1000_GenomesTBC1D12 
Exome Variant ServerTBC1D12
ExAC (Exome Aggregation Consortium)TBC1D12 (select the gene name)
Genetic variants : HAPMAP23232
Genomic Variants (DGV)TBC1D12 [DGVbeta]
DECIPHERTBC1D12 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTBC1D12 
Mutations
ICGC Data PortalTBC1D12 
TCGA Data PortalTBC1D12 
Broad Tumor PortalTBC1D12
OASIS PortalTBC1D12 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTBC1D12  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTBC1D12
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 TBC1D12
DgiDB (Drug Gene Interaction Database)TBC1D12
DoCM (Curated mutations)TBC1D12 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TBC1D12 (select a term)
intoGenTBC1D12
Cancer3DTBC1D12(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenTBC1D12
Genetic Testing Registry TBC1D12
NextProtO60347 [Medical]
TSGene23232
GENETestsTBC1D12
Huge Navigator TBC1D12 [HugePedia]
snp3D : Map Gene to Disease23232
BioCentury BCIQTBC1D12
ClinGenTBC1D12
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23232
Chemical/Pharm GKB GenePA134891743
Clinical trialTBC1D12
Miscellaneous
canSAR (ICR)TBC1D12 (select the gene name)
Probes
Litterature
PubMed7 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTBC1D12
EVEXTBC1D12
GoPubMedTBC1D12
iHOPTBC1D12
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:40:17 CEST 2017

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