TBCD (tubulin folding cofactor D)

2014-11-01 Affiliation

Identity

HGNC

TBCD

LOCATION

17q25.3

LOCUSID

6904

ALIAS

PEBAT,SSD-1,tfcD

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: 6904
MIM: 604649
HGNC: 11581
Ensembl: ENSG00000141556

Variants:

dbSNP: 6904
ClinVar: 6904
TCGA: ENSG00000141556
COSMIC: TBCD

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000141556	ENST00000355528	Q9BTW9
ENSG00000141556	ENST00000539345	J3KR97
ENSG00000141556	ENST00000571316	I3L0V3
ENSG00000141556	ENST00000571712	I3L1S3
ENSG00000141556	ENST00000572794	I3L1L0
ENSG00000141556	ENST00000572953	I3L143
ENSG00000141556	ENST00000572984	I3L4D2
ENSG00000141556	ENST00000574422	I3L163
ENSG00000141556	ENST00000574975	I3L500
ENSG00000141556	ENST00000576160	I3L131
ENSG00000141556	ENST00000576760	I3L439
ENSG00000141556	ENST00000576996	I3L3H4
ENSG00000141556	ENST00000577051	I3L120

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

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
18171676	2008	Cofactor D functions as a centrosomal protein and is required for the recruitment of the gamma-tubulin ring complex at centrosomes and organization of the mitotic spindle.	23
20740604	2010	Effect of TBCD and its regulatory interactor Arl2 on tubulin and microtubule integrity.	21
27666370	2016	Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.	19
17704193	2008	Beta-tubulin cofactor D and ARL2 take part in apical junctional complex disassembly and abrogate epithelial structure.	12
20198315	2010	Association of genetic variants with hemorrhagic stroke in Japanese individuals.	11
27666374	2016	Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.	8
19724895	2009	Association of gene polymorphisms with chronic kidney disease in Japanese individuals.	7
27400436	2016	Higher order signaling: ARL2 as regulator of both mitochondrial fusion and microtubule dynamics allows integration of 2 essential cell functions.	7
28158450	2016	Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway.	7
27807845	2017	Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy.	6

Citation

Dessen P

TBCD (tubulin folding cofactor D)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74542/tbcd