Identity
HGNC
LOCATION
1q42.3
LOCUSID
ALIAS
HRD,KCS,KCS1,PEAMO,pac2
FUSION GENES
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
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)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36258138 | 2023 | Hypoparathyroidism-Retardation-Dysmorphism Syndrome due to a Variant in the Tubulin-Specific Chaperone E Gene as a Cause of Combined Immune Deficiency. | 2 |
| 36258138 | 2023 | Hypoparathyroidism-Retardation-Dysmorphism Syndrome due to a Variant in the Tubulin-Specific Chaperone E Gene as a Cause of Combined Immune Deficiency. | 2 |
| 32275946 | 2020 | Defective proteasome biogenesis into skin fibroblasts isolated from Rett syndrome subjects with MeCP2 non-sense mutations. | 4 |
| 32275946 | 2020 | Defective proteasome biogenesis into skin fibroblasts isolated from Rett syndrome subjects with MeCP2 non-sense mutations. | 4 |
| 30638765 | 2019 | Additional Tunisian patients with Sanjad-Sakati syndrome: A review toward a consensus on diagnostic criteria. | 4 |
| 30638765 | 2019 | Additional Tunisian patients with Sanjad-Sakati syndrome: A review toward a consensus on diagnostic criteria. | 4 |
| 28583220 | 2017 | Expression and localization of tubulin cofactors TBCD and TBCE in human gametes. | 1 |
| 28583220 | 2017 | Expression and localization of tubulin cofactors TBCD and TBCE in human gametes. | 1 |
| 27666369 | 2016 | TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy. | 24 |
| 27666369 | 2016 | TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy. | 24 |
| 25908846 | 2015 | The structure of the complex between α-tubulin, TBCE and TBCB reveals a tubulin dimer dissociation mechanism. | 20 |
| 26231322 | 2015 | Sanjad-Sakati syndrome in a Tunisian child. | 6 |
| 25908846 | 2015 | The structure of the complex between α-tubulin, TBCE and TBCB reveals a tubulin dimer dissociation mechanism. | 20 |
| 26231322 | 2015 | Sanjad-Sakati syndrome in a Tunisian child. | 6 |
| 20103624 | 2010 | Efficacious immune therapy in chronic myelogenous leukemia (CML) recognizes antigens that are expressed on CML progenitor cells. | 26 |
Citation
Dessen P
TBCE (tubulin folding cofactor E)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/74543/tbce-(tubulin-folding-cofactor-e)
