TBCK (TBC1 domain containing kinase)

2003-05-01 Dessen P Affiliation

Identity

HGNC

TBCK

LOCATION

4q24

LOCUSID

93627

ALIAS

HSPC302,IHPRF3,TBCKL

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: 93627
MIM: 616899
HGNC: 28261
Ensembl: ENSG00000145348

Variants:

dbSNP: 93627
ClinVar: 93627
TCGA: ENSG00000145348
COSMIC: TBCK

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000145348	ENST00000273980	Q8TEA7
ENSG00000145348	ENST00000361687	Q8TEA7
ENSG00000145348	ENST00000394706	Q8TEA7
ENSG00000145348	ENST00000394708	Q8TEA7
ENSG00000145348	ENST00000467183	Q5HYF5
ENSG00000145348	ENST00000503516	D6RC61
ENSG00000145348	ENST00000503832	H0Y959
ENSG00000145348	ENST00000505574	H0YA45
ENSG00000145348	ENST00000507696	D6R950
ENSG00000145348	ENST00000508666	H0Y8U7
ENSG00000145348	ENST00000509532	D6RDG2
ENSG00000145348	ENST00000509862	D6RDY5

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

Protein levels (Protein atlas)

Not detected

Low

Medium

High

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/tbck-(tbc1-domain-containing-kinase)