TBCE (tubulin folding cofactor E)

2014-11-01 Affiliation

Identity

HGNC

TBCE

LOCATION

1q42.3

LOCUSID

6905

ALIAS

HRD,KCS,KCS1,PEAMO,pac2

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 6905
MIM: 604934
HGNC: 11582
Ensembl: ENSG00000284770

Variants:

dbSNP: 6905
ClinVar: 6905
TCGA: ENSG00000284770
COSMIC: TBCE

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000284770	ENST00000366601	A0A2U3TZJ6
ENSG00000284770	ENST00000406207	Q15813
ENSG00000284770	ENST00000543662	Q15813
ENSG00000284770	ENST00000642339	A0A2R8YH53
ENSG00000284770	ENST00000642372	A0A2R8Y6G3
ENSG00000284770	ENST00000642463	A0A2R8Y5H6
ENSG00000284770	ENST00000642610	Q15813
ENSG00000284770	ENST00000643125	A0A2R8Y4V6
ENSG00000284770	ENST00000643142	A0A2R8Y787
ENSG00000284770	ENST00000643238	A0A2R8Y784
ENSG00000284770	ENST00000643524	A0A2R8YH53
ENSG00000284770	ENST00000643615	A0A2R8YH53
ENSG00000284770	ENST00000643994	A0A2R8YH53
ENSG00000284770	ENST00000644037	A0A2R8Y5H6
ENSG00000284770	ENST00000644217	A0A2R8Y5Q8
ENSG00000284770	ENST00000644265	A0A2R8Y7H8
ENSG00000284770	ENST00000644578	A0A2R8Y7E7
ENSG00000284770	ENST00000644838	A0A2R8Y809
ENSG00000284770	ENST00000644910	A0A2R8Y720
ENSG00000284770	ENST00000645372	A0A2R8Y897
ENSG00000284770	ENST00000645551	A0A2R8Y787
ENSG00000284770	ENST00000645582	A0A2R8YH53
ENSG00000284770	ENST00000645662	A0A2R8YH53
ENSG00000284770	ENST00000645899	A0A2R8YHI9
ENSG00000284770	ENST00000645964	A0A2R8Y4P2
ENSG00000284770	ENST00000646104	A0A2R8YH53
ENSG00000284770	ENST00000646186	A0A2R8Y5H6
ENSG00000284770	ENST00000646286	A0A2R8Y597
ENSG00000284770	ENST00000646463	A0A2R8Y5H6
ENSG00000284770	ENST00000646536	A0A2R8Y809
ENSG00000284770	ENST00000646821	A0A2R8YFM3
ENSG00000284770	ENST00000646848	A0A2R8YER9
ENSG00000284770	ENST00000646929	A0A2R8Y3S1
ENSG00000284770	ENST00000647151	A0A2R8YFG9
ENSG00000284770	ENST00000647322	A0A2R8Y4E7
ENSG00000284770	ENST00000647332	A0A2R8YH53
ENSG00000284770	ENST00000647407	A0A2R8Y6L2
ENSG00000284770	ENST00000647418	A0A2R8YH53
ENSG00000284770	ENST00000647489	A0A2R8YH53
ENSG00000284770	ENST00000651186	A0A2R8Y6Q1

Pathways

Pathway	Source	External ID
Metabolism of proteins	REACTOME	R-HSA-392499
Protein folding	REACTOME	R-HSA-391251
Post-chaperonin tubulin folding pathway	REACTOME	R-HSA-389977

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
12389028	2002	Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.	46
20201926	2010	Human variation in alcohol response is influenced by variation in neuronal signaling genes.	45
12389029	2002	A missense mutation in Tbce causes progressive motor neuronopathy in mice.	31
12446740	2002	Missense mutation in the tubulin-specific chaperone E (Tbce) gene in the mouse mutant progressive motor neuronopathy, a model of human motoneuron disease.	24
20103624	2010	Efficacious immune therapy in chronic myelogenous leukemia (CML) recognizes antigens that are expressed on CML progenitor cells.	22
19297412	2009	Drosophila Tubulin-specific chaperone E functions at neuromuscular synapses and is required for microtubule network formation.	21
17184771	2007	Role of cofactors B (TBCB) and E (TBCE) in tubulin heterodimer dissociation.	18
19168853	2009	Gigaxonin controls vimentin organization through a tubulin chaperone-independent pathway.	18
25908846	2015	The structure of the complex between α-tubulin, TBCE and TBCB reveals a tubulin dimer dissociation mechanism.	9

Citation

Dessen P

TBCE (tubulin folding cofactor E)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74543/tbce