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TBCE (tubulin folding cofactor E)

Identity

Alias (NCBI)HRD
KCS
KCS1
PEAMO
pac2
HGNC (Hugo) TBCE
HGNC Alias symbKCS1
pac2
HGNC Previous nameKCS
 HRD
HGNC Previous nametubulin-specific chaperone e
 Kenny-Caffey syndrome
 hypoparathyroidism, growth and mental retardation, and dysmorphism
LocusID (NCBI) 6905
Atlas_Id 74543
Location 1q42.3  [Link to chromosome band 1q42]
Location_base_pair Starts at 235367427 and ends at 235452443 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)
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    tubulin folding cofactor E
AliasesHRD; KCS; KCS1; PEAMO; 
pac2
GeneCards (Weizmann)TBCE
Ensembl hg19 (Hinxton)ENSG00000284770 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000284770 [Gene_View]  ENSG00000284770 [Sequence]  chr1:235367427-235452443 [Contig_View]  TBCE [Vega]
ICGC DataPortalENSG00000284770
TCGA cBioPortalTBCE
AceView (NCBI)TBCE
Genatlas (Paris)TBCE
SOURCE (Princeton)TBCE
Genetics Home Reference (NIH)TBCE
Genomic and cartography
GoldenPath hg38 (UCSC)TBCE  -     chr1:235367427-235452443 +  1q42.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TBCE  -     1q42.3   [Description]    (hg19-Feb_2009)
GoldenPathTBCE - 1q42.3 [CytoView hg19]  TBCE - 1q42.3 [CytoView hg38]
ImmunoBaseENSG00000284770
Genome Data Viewer NCBITBCE [Mapview hg19]  
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
Consensus coding sequences : CCDS (NCBI)TBCE
Gene ExpressionTBCE [ NCBI-GEO ]   TBCE [ EBI - ARRAY_EXPRESS ]   TBCE [ SEEK ]   TBCE [ MEM ]
Gene Expression Viewer (FireBrowse)TBCE [ Firebrowse - Broad ]
GenevisibleExpression of TBCE in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6905
GTEX Portal (Tissue expression)TBCE
Human Protein AtlasENSG00000284770-TBCE [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ15813
Domaine pattern : Prosite (Expaxy)CAP_GLY_1 (PS00845)    CAP_GLY_2 (PS50245)   
Domains : Interpro (EBI)CAP-Gly_dom_sf    CAP-Gly_domain    LRR_dom_sf    Ubiquitin-like_dom    Ubiquitin-like_domsf    Ubl_TBCE   
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
PDB (RSDB)4ICU    4ICV   
PDB Europe4ICU    4ICV   
PDB (PDBSum)4ICU    4ICV   
PDB (IMB)4ICU    4ICV   
Structural Biology KnowledgeBase4ICU    4ICV   
SCOP (Structural Classification of Proteins)4ICU    4ICV   
CATH (Classification of proteins structures)4ICU    4ICV   
SuperfamilyQ15813
AlphaFold pdb e-kbQ15813   
Human Protein Atlas [tissue]ENSG00000284770-TBCE [tissue]
HPRD05381
Protein Interaction databases
DIP (DOE-UCLA)Q15813
IntAct (EBI)Q15813
BioGRIDTBCE
STRING (EMBL)TBCE
ZODIACTBCE
Ontologies - Pathways
QuickGOQ15813
Ontology : AmiGOmicrotubule cytoskeleton organization  microtubule cytoskeleton organization  protein binding  cytoplasm  microtubule  protein folding  tubulin complex assembly  post-chaperonin tubulin folding pathway  post-chaperonin tubulin folding pathway  mitotic spindle organization  alpha-tubulin binding  chaperone binding  
Ontology : EGO-EBImicrotubule cytoskeleton organization  microtubule cytoskeleton organization  protein binding  cytoplasm  microtubule  protein folding  tubulin complex assembly  post-chaperonin tubulin folding pathway  post-chaperonin tubulin folding pathway  mitotic spindle organization  alpha-tubulin binding  chaperone binding  
NDEx NetworkTBCE
Atlas of Cancer Signalling NetworkTBCE
Wikipedia pathwaysTBCE
Orthology - Evolution
OrthoDB6905
GeneTree (enSembl)ENSG00000284770
Phylogenetic Trees/Animal Genes : TreeFamTBCE
Homologs : HomoloGeneTBCE
Homology/Alignments : Family Browser (UCSC)TBCE
Gene fusions - Rearrangements
Fusion : QuiverTBCE
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBCE [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBCE
dbVarTBCE
ClinVarTBCE
MonarchTBCE
1000_GenomesTBCE 
Exome Variant ServerTBCE
GNOMAD BrowserENSG00000284770
Varsome BrowserTBCE
ACMGTBCE variants
VarityQ15813
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]  
Somatic Mutations in Cancer : COSMIC3DTBCE
Mutations and Diseases : HGMDTBCE
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTBCE
DgiDB (Drug Gene Interaction Database)TBCE
DoCM (Curated mutations)TBCE
CIViC (Clinical Interpretations of Variants in Cancer)TBCE
Cancer3DTBCE
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM241410    244460    604934    617207   
Orphanet2178    12261   
DisGeNETTBCE
MedgenTBCE
Genetic Testing Registry TBCE
NextProtQ15813 [Medical]
GENETestsTBCE
Target ValidationTBCE
Huge Navigator TBCE [HugePedia]
ClinGenTBCE
Clinical trials, drugs, therapy
MyCancerGenomeTBCE
Protein Interactions : CTDTBCE
Pharm GKB GenePA36346
PharosQ15813
Clinical trialTBCE
Miscellaneous
canSAR (ICR)TBCE
HarmonizomeTBCE
DataMed IndexTBCE
Probes
Litterature
PubMed50 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTBCE
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Oct 4 16:24:58 CEST 2021

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