TBCK (TBC1 domain containing kinase)

2003-05-01  

Identity

HGNC
LOCATION
4q24
LOCUSID
ALIAS
HSPC302,IHPRF3,TBCKL
FUSION GENES

Other Information

Locus ID:

NCBI: 93627
MIM: 616899
HGNC: 28261
Ensembl: ENSG00000145348

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000145348ENST00000273980Q8TEA7
ENSG00000145348ENST00000361687Q8TEA7
ENSG00000145348ENST00000394706Q8TEA7
ENSG00000145348ENST00000394708Q8TEA7
ENSG00000145348ENST00000467183Q5HYF5
ENSG00000145348ENST00000503516D6RC61
ENSG00000145348ENST00000503832H0Y959
ENSG00000145348ENST00000505574H0YA45
ENSG00000145348ENST00000507696D6R950
ENSG00000145348ENST00000508666H0Y8U7
ENSG00000145348ENST00000509532D6RDG2
ENSG00000145348ENST00000509862D6RDY5

Expression (GTEx)

0
5
10
15

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
239770242013TBCK influences cell proliferation, cell size and mTOR signaling pathway.13
270406912016Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.13
270406922016Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.11
203320992010A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts.8
245764582014A long type of TBCK is a novel cytoplasmic and mitotic apparatus-associated protein likely suppressing cell proliferation.5
276339812016Gene fusions AHRR-NCOA2, NCOA2-ETV4, ETV4-AHRR, P4HA2-TBCK, and TBCK-P4HA2 resulting from the translocations t(5;8;17)(p15;q13;q21) and t(4;5)(q24;q31) in a soft tissue angiofibroma.5
277480292017TBCK-related intellectual disability syndrome: Case study of two patients.4
292834392018Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy.4
301030362019Further delineation of TBCK - Infantile hypotonia with psychomotor retardation and characteristic facies type 3.2
305910812018Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease - a new type of neuronal ceroid lipofuscinosis (CLN15)?2

Citation

Dessen P

TBCK (TBC1 domain containing kinase)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/41350/tbck