TTBK2 (tau tubulin kinase 2)

2006-10-01  

Identity

HGNC
TTBK2
LOCATION
15q15.2
LOCUSID
146057
ALIAS
SCA11,TTBK
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 146057
MIM: 611695
HGNC: 19141
Ensembl: ENSG00000128881

Variants:

dbSNP: 146057
ClinVar: 146057
TCGA: ENSG00000128881
COSMIC: TTBK2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000128881ENST00000267890Q6IQ55
ENSG00000128881ENST00000562880H3BTY5
ENSG00000128881ENST00000564431H3BQ25
ENSG00000128881ENST00000566931H3BMY7
ENSG00000128881ENST00000567274A0A0B4J292
ENSG00000128881ENST00000567840Q6IQ55
ENSG00000128881ENST00000622375Q8IWY7

Expression (GTEx)

0
5
10
15
20
25
30
35
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

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Anchoring of the basal body to the plasma membraneREACTOMER-HSA-5620912

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
368927832024Spinocerebellar ataxia type 11 (SCA11): TTBK2 variants, functions and associated disease mechanisms.0
378487002024A Novel TTBK2 Mutation in a Chinese Pedigree with Spinocerebellar Ataxia 11.0
368927832024Spinocerebellar ataxia type 11 (SCA11): TTBK2 variants, functions and associated disease mechanisms.0
378487002024A Novel TTBK2 Mutation in a Chinese Pedigree with Spinocerebellar Ataxia 11.0
370598192023Modulation of tau tubulin kinases (TTBK1 and TTBK2) impacts ciliogenesis.4
370598192023Modulation of tau tubulin kinases (TTBK1 and TTBK2) impacts ciliogenesis.4
344998532022Molecular mechanisms underlying the role of the centriolar CEP164-TTBK2 complex in ciliopathies.6
344998532022Molecular mechanisms underlying the role of the centriolar CEP164-TTBK2 complex in ciliopathies.6
338462492021A complex of distal appendage-associated kinases linked to human disease regulates ciliary trafficking and stability.10
338462492021A complex of distal appendage-associated kinases linked to human disease regulates ciliary trafficking and stability.10
321297032020Phosphorylation of multiple proteins involved in ciliogenesis by Tau Tubulin kinase 2.19
321966292020Circular RNA TTBK2 regulates cell proliferation, invasion and ferroptosis via miR-761/ITGB8 axis in glioma.53
321297032020Phosphorylation of multiple proteins involved in ciliogenesis by Tau Tubulin kinase 2.19
321966292020Circular RNA TTBK2 regulates cell proliferation, invasion and ferroptosis via miR-761/ITGB8 axis in glioma.53
314556682019Phosphorylation of CEP83 by TTBK2 is necessary for cilia initiation.34

Citation

Dessen P

TTBK2 (tau tubulin kinase 2)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43548/css/lib/gene-explorer/