TBCE (tubulin folding cofactor E)

2014-11-01  

Identity

HGNC
TBCE
LOCATION
1q42.3
LOCUSID
6905
ALIAS
HRD,KCS,KCS1,PEAMO,pac2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000284770ENST00000366601A0A2U3TZJ6
ENSG00000284770ENST00000406207Q15813
ENSG00000284770ENST00000543662Q15813
ENSG00000284770ENST00000642339A0A2R8YH53
ENSG00000284770ENST00000642372A0A2R8Y6G3
ENSG00000284770ENST00000642463A0A2R8Y5H6
ENSG00000284770ENST00000642610Q15813
ENSG00000284770ENST00000643125A0A2R8Y4V6
ENSG00000284770ENST00000643142A0A2R8Y787
ENSG00000284770ENST00000643238A0A2R8Y784
ENSG00000284770ENST00000643524A0A2R8YH53
ENSG00000284770ENST00000643615A0A2R8YH53
ENSG00000284770ENST00000643994A0A2R8YH53
ENSG00000284770ENST00000644037A0A2R8Y5H6
ENSG00000284770ENST00000644217A0A2R8Y5Q8
ENSG00000284770ENST00000644265A0A2R8Y7H8
ENSG00000284770ENST00000644578A0A2R8Y7E7
ENSG00000284770ENST00000644838A0A2R8Y809
ENSG00000284770ENST00000644910A0A2R8Y720
ENSG00000284770ENST00000645372A0A2R8Y897
ENSG00000284770ENST00000645551A0A2R8Y787
ENSG00000284770ENST00000645582A0A2R8YH53
ENSG00000284770ENST00000645662A0A2R8YH53
ENSG00000284770ENST00000645899A0A2R8YHI9
ENSG00000284770ENST00000645964A0A2R8Y4P2
ENSG00000284770ENST00000646104A0A2R8YH53
ENSG00000284770ENST00000646186A0A2R8Y5H6
ENSG00000284770ENST00000646286A0A2R8Y597
ENSG00000284770ENST00000646463A0A2R8Y5H6
ENSG00000284770ENST00000646536A0A2R8Y809
ENSG00000284770ENST00000646821A0A2R8YFM3
ENSG00000284770ENST00000646848A0A2R8YER9
ENSG00000284770ENST00000646929A0A2R8Y3S1
ENSG00000284770ENST00000647151A0A2R8YFG9
ENSG00000284770ENST00000647322A0A2R8Y4E7
ENSG00000284770ENST00000647332A0A2R8YH53
ENSG00000284770ENST00000647407A0A2R8Y6L2
ENSG00000284770ENST00000647418A0A2R8YH53
ENSG00000284770ENST00000647489A0A2R8YH53
ENSG00000284770ENST00000651186A0A2R8Y6Q1

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Protein foldingREACTOMER-HSA-391251
Post-chaperonin tubulin folding pathwayREACTOMER-HSA-389977

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
362581382023Hypoparathyroidism-Retardation-Dysmorphism Syndrome due to a Variant in the Tubulin-Specific Chaperone E Gene as a Cause of Combined Immune Deficiency.2
362581382023Hypoparathyroidism-Retardation-Dysmorphism Syndrome due to a Variant in the Tubulin-Specific Chaperone E Gene as a Cause of Combined Immune Deficiency.2
322759462020Defective proteasome biogenesis into skin fibroblasts isolated from Rett syndrome subjects with MeCP2 non-sense mutations.4
322759462020Defective proteasome biogenesis into skin fibroblasts isolated from Rett syndrome subjects with MeCP2 non-sense mutations.4
306387652019Additional Tunisian patients with Sanjad-Sakati syndrome: A review toward a consensus on diagnostic criteria.4
306387652019Additional Tunisian patients with Sanjad-Sakati syndrome: A review toward a consensus on diagnostic criteria.4
285832202017Expression and localization of tubulin cofactors TBCD and TBCE in human gametes.1
285832202017Expression and localization of tubulin cofactors TBCD and TBCE in human gametes.1
276663692016TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.24
276663692016TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.24
259088462015The structure of the complex between α-tubulin, TBCE and TBCB reveals a tubulin dimer dissociation mechanism.20
262313222015Sanjad-Sakati syndrome in a Tunisian child.6
259088462015The structure of the complex between α-tubulin, TBCE and TBCB reveals a tubulin dimer dissociation mechanism.20
262313222015Sanjad-Sakati syndrome in a Tunisian child.6
201036242010Efficacious 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