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: 390594
MIM: 613727
HGNC: 37227
Ensembl: ENSG00000234438
Variants:
dbSNP: 390594
ClinVar: 390594
TCGA: ENSG00000234438
COSMIC: KBTBD13
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000234438 | ENST00000432196 | C9JR72 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36335629 | 2022 | KBTBD13 is a novel cardiomyopathy gene. | 1 |
| 36335629 | 2022 | KBTBD13 is a novel cardiomyopathy gene. | 1 |
| 33693846 | 2021 | NEM6, KBTBD13-Related Congenital Myopathy: Myopathological Analysis in 18 Dutch Patients Reveals Ring Rods Fibers, Cores, Nuclear Clumps, and Granulo-Filamentous Protein Material. | 0 |
| 33693846 | 2021 | NEM6, KBTBD13-Related Congenital Myopathy: Myopathological Analysis in 18 Dutch Patients Reveals Ring Rods Fibers, Cores, Nuclear Clumps, and Granulo-Filamentous Protein Material. | 0 |
| 31671076 | 2020 | KBTBD13 is an actin-binding protein that modulates muscle kinetics. | 21 |
| 31671076 | 2020 | KBTBD13 is an actin-binding protein that modulates muscle kinetics. | 21 |
| 22542517 | 2012 | KBTBD13 interacts with Cullin 3 to form a functional ubiquitin ligase. | 21 |
| 22542517 | 2012 | KBTBD13 interacts with Cullin 3 to form a functional ubiquitin ligase. | 21 |
| 21109227 | 2010 | Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. | 67 |
| 21109227 | 2010 | Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. | 67 |
Citation
Dessen P
KBTBD13 (kelch repeat and BTB domain containing 13)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/64750/kbtbd13-(kelch-repeat-and-btb-domain-containing-13)
