Identity
HGNC
LOCATION
17q25.3
LOCUSID
ALIAS
PEBAT,SSD-1,tfcD
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: 6904
MIM: 604649
HGNC: 11581
Ensembl: ENSG00000141556
Variants:
dbSNP: 6904
ClinVar: 6904
TCGA: ENSG00000141556
COSMIC: TBCD
RNA/Proteins
Expression (GTEx)
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 |
|---|---|---|---|
| 37394437 | 2023 | [MOH SCREENING FOR TBCD IN COCHIN JEWS: COLLABORATION BETWEEN MEDICAL, RESEARCH AND COMMUNITY MEMBERS IN ACHIEVING PUBLIC HEALTH GOALS]. | 0 |
| 37394437 | 2023 | [MOH SCREENING FOR TBCD IN COCHIN JEWS: COLLABORATION BETWEEN MEDICAL, RESEARCH AND COMMUNITY MEMBERS IN ACHIEVING PUBLIC HEALTH GOALS]. | 0 |
| 29769041 | 2018 | Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report. | 4 |
| 29921875 | 2018 | A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course. | 8 |
| 29769041 | 2018 | Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report. | 4 |
| 29921875 | 2018 | A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course. | 8 |
| 27807845 | 2017 | Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy. | 13 |
| 27928163 | 2017 | TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy. | 7 |
| 28583220 | 2017 | Expression and localization of tubulin cofactors TBCD and TBCE in human gametes. | 1 |
| 28970104 | 2017 | Nucleotide Binding to ARL2 in the TBCD∙ARL2∙β-Tubulin Complex Drives Conformational Changes in β-Tubulin. | 15 |
| 27807845 | 2017 | Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy. | 13 |
| 27928163 | 2017 | TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy. | 7 |
| 28583220 | 2017 | Expression and localization of tubulin cofactors TBCD and TBCE in human gametes. | 1 |
| 28970104 | 2017 | Nucleotide Binding to ARL2 in the TBCD∙ARL2∙β-Tubulin Complex Drives Conformational Changes in β-Tubulin. | 15 |
| 27400436 | 2016 | Higher 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/tbcd-(tubulin-folding-cofactor-d)
