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TBC1D12 (TBC1 domain family member 12)

Identity

Alias (NCBI)-
HGNC (Hugo) TBC1D12
HGNC Alias symbKIAA0608
HGNC Previous nameTBC1 domain family, member 12
LocusID (NCBI) 23232
Atlas_Id 53771
Location 10q23.33  [Link to chromosome band 10q23]
Location_base_pair Starts at 94402541 and ends at 94536332 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)
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    TBC1 domain family member 12
Aliases
GeneCards (Weizmann)TBC1D12
Ensembl hg19 (Hinxton)ENSG00000108239 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000108239 [Gene_View]  ENSG00000108239 [Sequence]  chr10:94402541-94536332 [Contig_View]  TBC1D12 [Vega]
ICGC DataPortalENSG00000108239
TCGA cBioPortalTBC1D12
AceView (NCBI)TBC1D12
Genatlas (Paris)TBC1D12
SOURCE (Princeton)TBC1D12
Genetics Home Reference (NIH)TBC1D12
Genomic and cartography
GoldenPath hg38 (UCSC)TBC1D12  -     chr10:94402541-94536332 +  10q23.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TBC1D12  -     10q23.33   [Description]    (hg19-Feb_2009)
GoldenPathTBC1D12 - 10q23.33 [CytoView hg19]  TBC1D12 - 10q23.33 [CytoView hg38]
ImmunoBaseENSG00000108239
Genome Data Viewer NCBITBC1D12 [Mapview hg19]  
Gene and transcription
Genbank (Entrez)AB011180 AB449898 AJ404330 AK090865 AL049956
RefSeq transcript (Entrez)NM_015188
Consensus coding sequences : CCDS (NCBI)TBC1D12
Gene ExpressionTBC1D12 [ NCBI-GEO ]   TBC1D12 [ EBI - ARRAY_EXPRESS ]   TBC1D12 [ SEEK ]   TBC1D12 [ MEM ]
Gene Expression Viewer (FireBrowse)TBC1D12 [ Firebrowse - Broad ]
GenevisibleExpression of TBC1D12 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23232
GTEX Portal (Tissue expression)TBC1D12
Human Protein AtlasENSG00000108239-TBC1D12 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusO60347
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)TBC1D12
SuperfamilyO60347
AlphaFold pdb e-kbO60347   
Human Protein Atlas [tissue]ENSG00000108239-TBC1D12 [tissue]
Protein Interaction databases
DIP (DOE-UCLA)O60347
IntAct (EBI)O60347
BioGRIDTBC1D12
STRING (EMBL)TBC1D12
ZODIACTBC1D12
Ontologies - Pathways
QuickGOO60347
Ontology : AmiGOGTPase activator activity  autophagosome  intracellular protein transport  recycling endosome  activation of GTPase activity  regulation of autophagosome assembly  
Ontology : EGO-EBIGTPase activator activity  autophagosome  intracellular protein transport  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
Homologs : HomoloGeneTBC1D12
Homology/Alignments : Family Browser (UCSC)TBC1D12
Gene fusions - Rearrangements
Fusion : MitelmanHELLS/TBC1D12 [10q23.33/10q23.33]  
Fusion : MitelmanTBC1D12/EXOC6 [10q23.33/10q23.33]  
Fusion : MitelmanTBC1D12/MORN4 [10q23.33/10q24.2]  
Fusion : QuiverTBC1D12
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBC1D12 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBC1D12
dbVarTBC1D12
ClinVarTBC1D12
MonarchTBC1D12
1000_GenomesTBC1D12 
Exome Variant ServerTBC1D12
GNOMAD BrowserENSG00000108239
Varsome BrowserTBC1D12
ACMGTBC1D12 variants
VarityO60347
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]  
Somatic Mutations in Cancer : COSMIC3DTBC1D12
Mutations and Diseases : HGMDTBC1D12
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTBC1D12
DgiDB (Drug Gene Interaction Database)TBC1D12
DoCM (Curated mutations)TBC1D12
CIViC (Clinical Interpretations of Variants in Cancer)TBC1D12
Cancer3DTBC1D12
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETTBC1D12
MedgenTBC1D12
Genetic Testing Registry TBC1D12
NextProtO60347 [Medical]
GENETestsTBC1D12
Target ValidationTBC1D12
Huge Navigator TBC1D12 [HugePedia]
ClinGenTBC1D12
Clinical trials, drugs, therapy
MyCancerGenomeTBC1D12
Protein Interactions : CTDTBC1D12
Pharm GKB GenePA134891743
PharosO60347
Clinical trialTBC1D12
Miscellaneous
canSAR (ICR)TBC1D12
HarmonizomeTBC1D12
DataMed IndexTBC1D12
Probes
Litterature
PubMed10 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTBC1D12
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 15:34:20 CEST 2021

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