Identity
HGNC
LOCATION
4q24
LOCUSID
ALIAS
HSPC302,IHPRF3,TBCKL
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: 93627
MIM: 616899
HGNC: 28261
Ensembl: ENSG00000145348
Variants:
dbSNP: 93627
ClinVar: 93627
TCGA: ENSG00000145348
COSMIC: TBCK
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36522252 | 2023 | Expanding the phenotype of children presenting with hypoventilation with biallelic TBCK pathogenic variants and literature review. | 2 |
| 37353954 | 2023 | Heterozygous variants in TBCK cause a mild neurologic syndrome in humans and mice. | 0 |
| 37455236 | 2023 | TBCK syndrome: a rare multi-organ neurodegenerative disease. | 0 |
| 37876076 | 2023 | Mutation Of TBC1 Domain Containing Kinase (TBCK) With Associated Intellectual Disability And Hypotonia. | 0 |
| 36522252 | 2023 | Expanding the phenotype of children presenting with hypoventilation with biallelic TBCK pathogenic variants and literature review. | 2 |
| 37353954 | 2023 | Heterozygous variants in TBCK cause a mild neurologic syndrome in humans and mice. | 0 |
| 37455236 | 2023 | TBCK syndrome: a rare multi-organ neurodegenerative disease. | 0 |
| 37876076 | 2023 | Mutation Of TBC1 Domain Containing Kinase (TBCK) With Associated Intellectual Disability And Hypotonia. | 0 |
| 36317458 | 2022 | A recurrent single-exon deletion in TBCK might be under-recognized in patients with infantile hypotonia and psychomotor delay. | 0 |
| 36317458 | 2022 | A recurrent single-exon deletion in TBCK might be under-recognized in patients with infantile hypotonia and psychomotor delay. | 0 |
| 30103036 | 2019 | Further delineation of TBCK - Infantile hypotonia with psychomotor retardation and characteristic facies type 3. | 5 |
| 31331056 | 2019 | MiR-1208 Increases the Sensitivity to Cisplatin by Targeting TBCK in Renal Cancer Cells. | 8 |
| 30103036 | 2019 | Further delineation of TBCK - Infantile hypotonia with psychomotor retardation and characteristic facies type 3. | 5 |
| 31331056 | 2019 | MiR-1208 Increases the Sensitivity to Cisplatin by Targeting TBCK in Renal Cancer Cells. | 8 |
| 29283439 | 2018 | Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy. | 15 |
Citation
Dessen P
TBCK (TBC1 domain containing kinase)
Atlas Genet Cytogenet Oncol Haematol. 2003-05-01
Online version: http://atlasgeneticsoncology.org/gene/41350
