TBCD (tubulin folding cofactor D)

2014-11-01  

Identity

HGNC
TBCD
LOCATION
17q25.3
LOCUSID
6904
ALIAS
PEBAT,SSD-1,tfcD
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6904
MIM: 604649
HGNC: 11581
Ensembl: ENSG00000141556

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000141556ENST00000355528Q9BTW9
ENSG00000141556ENST00000539345J3KR97
ENSG00000141556ENST00000571316I3L0V3
ENSG00000141556ENST00000571712I3L1S3
ENSG00000141556ENST00000572794I3L1L0
ENSG00000141556ENST00000572953I3L143
ENSG00000141556ENST00000572984I3L4D2
ENSG00000141556ENST00000574422I3L163
ENSG00000141556ENST00000574975I3L500
ENSG00000141556ENST00000576160I3L131
ENSG00000141556ENST00000576760I3L439
ENSG00000141556ENST00000576996I3L3H4
ENSG00000141556ENST00000577051I3L120

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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

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
parathyroid 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
heart muscle
smooth muscle
skeletal muscle
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
373944372023[MOH SCREENING FOR TBCD IN COCHIN JEWS: COLLABORATION BETWEEN MEDICAL, RESEARCH AND COMMUNITY MEMBERS IN ACHIEVING PUBLIC HEALTH GOALS].0
373944372023[MOH SCREENING FOR TBCD IN COCHIN JEWS: COLLABORATION BETWEEN MEDICAL, RESEARCH AND COMMUNITY MEMBERS IN ACHIEVING PUBLIC HEALTH GOALS].0
297690412018Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report.4
299218752018A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course.8
297690412018Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report.4
299218752018A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course.8
278078452017Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy.13
279281632017TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy.7
285832202017Expression and localization of tubulin cofactors TBCD and TBCE in human gametes.1
289701042017Nucleotide Binding to ARL2 in the TBCD∙ARL2∙β-Tubulin Complex Drives Conformational Changes in β-Tubulin.15
278078452017Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy.13
279281632017TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy.7
285832202017Expression and localization of tubulin cofactors TBCD and TBCE in human gametes.1
289701042017Nucleotide Binding to ARL2 in the TBCD∙ARL2∙β-Tubulin Complex Drives Conformational Changes in β-Tubulin.15
274004362016Higher order signaling: ARL2 as regulator of both mitochondrial fusion and microtubule dynamics allows integration of 2 essential cell functions.0

Citation

Dessen P

TBCD (tubulin folding cofactor D)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

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