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TBCE (tubulin folding cofactor E)

Identity

Alias_namesKCS
HRD
tubulin-specific chaperone e
Kenny-Caffey syndrome
hypoparathyroidism, growth and mental retardation, and dysmorphism
Alias_symbol (synonym)KCS1
pac2
Other aliasPEAMO
HGNC (Hugo) TBCE
LocusID (NCBI) 6905
Atlas_Id 74543
Location 1q42.3  [Link to chromosome band 1q42]
Location_base_pair Starts at 235367360 and ends at 235448968 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
HERC2 (15q13.1) / TBCE (1q42.3)TBCE (1q42.3) / AIM2 (1q23.1)TBCE (1q42.3) / TBC1D22A (22q13.31)
TBCE TBC1D22ATBCE AIM2

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)TBCE   11582
Cards
Entrez_Gene (NCBI)TBCE  6905  tubulin folding cofactor E
AliasesHRD; KCS; KCS1; PEAMO; 
pac2
GeneCards (Weizmann)TBCE
Ensembl hg19 (Hinxton)ENSG00000116957 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000116957 [Gene_View]  chr1:235367360-235448968 [Contig_View]  TBCE [Vega]
ICGC DataPortalENSG00000116957
TCGA cBioPortalTBCE
AceView (NCBI)TBCE
Genatlas (Paris)TBCE
WikiGenes6905
SOURCE (Princeton)TBCE
Genetics Home Reference (NIH)TBCE
Genomic and cartography
GoldenPath hg38 (UCSC)TBCE  -     chr1:235367360-235448968 +  1q42.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TBCE  -     1q42.3   [Description]    (hg19-Feb_2009)
EnsemblTBCE - 1q42.3 [CytoView hg19]  TBCE - 1q42.3 [CytoView hg38]
Mapping of homologs : NCBITBCE [Mapview hg19]  TBCE [Mapview hg38]
OMIM241410   244460   604934   617207   
Gene and transcription
Genbank (Entrez)AK093397 AK292287 AK296185 AK298050 BC008654
RefSeq transcript (Entrez)NM_001079515 NM_001287801 NM_001287802 NM_003193
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TBCE
Cluster EST : UnigeneHs.744998 [ NCBI ]
CGAP (NCI)Hs.744998
Alternative Splicing GalleryENSG00000116957
Gene ExpressionTBCE [ NCBI-GEO ]   TBCE [ EBI - ARRAY_EXPRESS ]   TBCE [ SEEK ]   TBCE [ MEM ]
Gene Expression Viewer (FireBrowse)TBCE [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6905
GTEX Portal (Tissue expression)TBCE
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15813   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15813  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15813
Splice isoforms : SwissVarQ15813
PhosPhoSitePlusQ15813
Domaine pattern : Prosite (Expaxy)CAP_GLY_1 (PS00845)    CAP_GLY_2 (PS50245)   
Domains : Interpro (EBI)CAP-Gly_domain    L_dom-like    Ubiquitin-rel_dom    Ubiquitin_dom   
Domain families : Pfam (Sanger)CAP_GLY (PF01302)    Ubiquitin_2 (PF14560)   
Domain families : Pfam (NCBI)pfam01302    pfam14560   
Domain families : Smart (EMBL)CAP_GLY (SM01052)  
Conserved Domain (NCBI)TBCE
DMDM Disease mutations6905
Blocks (Seattle)TBCE
PDB (SRS)4ICU    4ICV   
PDB (PDBSum)4ICU    4ICV   
PDB (IMB)4ICU    4ICV   
PDB (RSDB)4ICU    4ICV   
Structural Biology KnowledgeBase4ICU    4ICV   
SCOP (Structural Classification of Proteins)4ICU    4ICV   
CATH (Classification of proteins structures)4ICU    4ICV   
SuperfamilyQ15813
Human Protein AtlasENSG00000116957
Peptide AtlasQ15813
HPRD05381
IPIIPI00018402   IPI00922443   
Protein Interaction databases
DIP (DOE-UCLA)Q15813
IntAct (EBI)Q15813
FunCoupENSG00000116957
BioGRIDTBCE
STRING (EMBL)TBCE
ZODIACTBCE
Ontologies - Pathways
QuickGOQ15813
Ontology : AmiGOmicrotubule cytoskeleton organization  protein binding  cytoplasm  microtubule  protein folding  post-chaperonin tubulin folding pathway  mitotic spindle organization  adult locomotory behavior  post-embryonic development  muscle atrophy  developmental growth  peripheral nervous system neuron axonogenesis  chaperone binding  
Ontology : EGO-EBImicrotubule cytoskeleton organization  protein binding  cytoplasm  microtubule  protein folding  post-chaperonin tubulin folding pathway  mitotic spindle organization  adult locomotory behavior  post-embryonic development  muscle atrophy  developmental growth  peripheral nervous system neuron axonogenesis  chaperone binding  
NDEx NetworkTBCE
Atlas of Cancer Signalling NetworkTBCE
Wikipedia pathwaysTBCE
Orthology - Evolution
OrthoDB6905
GeneTree (enSembl)ENSG00000116957
Phylogenetic Trees/Animal Genes : TreeFamTBCE
HOVERGENQ15813
HOGENOMQ15813
Homologs : HomoloGeneTBCE
Homology/Alignments : Family Browser (UCSC)TBCE
Gene fusions - Rearrangements
Fusion: TCGATBCE TBC1D22A
Fusion: TCGATBCE AIM2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBCE [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBCE
dbVarTBCE
ClinVarTBCE
1000_GenomesTBCE 
Exome Variant ServerTBCE
ExAC (Exome Aggregation Consortium)TBCE (select the gene name)
Genetic variants : HAPMAP6905
Genomic Variants (DGV)TBCE [DGVbeta]
DECIPHERTBCE [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTBCE 
Mutations
ICGC Data PortalTBCE 
TCGA Data PortalTBCE 
Broad Tumor PortalTBCE
OASIS PortalTBCE [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTBCE  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTBCE
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 TBCE
DgiDB (Drug Gene Interaction Database)TBCE
DoCM (Curated mutations)TBCE (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TBCE (select a term)
intoGenTBCE
Cancer3DTBCE(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM241410    244460    604934    617207   
Orphanet2178    12261   
MedgenTBCE
Genetic Testing Registry TBCE
NextProtQ15813 [Medical]
TSGene6905
GENETestsTBCE
Huge Navigator TBCE [HugePedia]
snp3D : Map Gene to Disease6905
BioCentury BCIQTBCE
ClinGenTBCE
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6905
Chemical/Pharm GKB GenePA36346
Clinical trialTBCE
Miscellaneous
canSAR (ICR)TBCE (select the gene name)
Probes
Litterature
PubMed40 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTBCE
EVEXTBCE
GoPubMedTBCE
iHOPTBCE
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 11:57:29 CEST 2017

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