Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	146057
Gene name	Tau tubulin kinase 2
Gene symbol	TTBK2
Synonyms (NCBI Gene)	SCA11TTBK
Chromosome	15
Chromosome location	15q15.2
Summary	This gene encodes a serine-threonine kinase that putatively phosphorylates tau and tubulin proteins. Mutations in this gene cause spinocerebellar ataxia type 11 (SCA11); a neurodegenerative disease characterized by progressive ataxia and atrophy of the ce

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs80356538	->T	Pathogenic	Coding sequence variant, frameshift variant
rs80356539	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs199635198	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs318240735	CT>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (25)

miRTarBase ID	miRNA	Experiments
MIRT1460779	hsa-miR-1273d	CLIP-seq
MIRT1460780	hsa-miR-3154	CLIP-seq
MIRT1460781	hsa-miR-410	CLIP-seq
MIRT1460782	hsa-miR-4307	CLIP-seq
MIRT1460783	hsa-miR-4768-5p	CLIP-seq
MIRT2138396	hsa-miR-3152-5p	CLIP-seq
MIRT2138397	hsa-miR-3974	CLIP-seq
MIRT2138398	hsa-miR-4263	CLIP-seq
MIRT2138399	hsa-miR-4320	CLIP-seq
MIRT2138400	hsa-miR-4774-3p	CLIP-seq
MIRT2138401	hsa-miR-520d-5p	CLIP-seq
MIRT2138402	hsa-miR-524-5p	CLIP-seq
MIRT2138403	hsa-miR-596	CLIP-seq
MIRT2138398	hsa-miR-4263	CLIP-seq
MIRT2138399	hsa-miR-4320	CLIP-seq
MIRT2359303	hsa-miR-4690-3p	CLIP-seq
MIRT2138401	hsa-miR-520d-5p	CLIP-seq
MIRT2138402	hsa-miR-524-5p	CLIP-seq
MIRT2359304	hsa-miR-548n	CLIP-seq
MIRT2359305	hsa-miR-548t	CLIP-seq
MIRT2138398	hsa-miR-4263	CLIP-seq
MIRT2396448	hsa-miR-4799-5p	CLIP-seq
MIRT2396449	hsa-miR-576-5p	CLIP-seq
MIRT2138403	hsa-miR-596	CLIP-seq
MIRT2138403	hsa-miR-596	CLIP-seq

Show/Hide all (70)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000226	Process	Microtubule cytoskeleton organization	IGI	26323690
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IBA
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	21548880, 26323690
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	NAS	28386764
GO:0005515	Function	Protein binding	IPI	22863007, 25416956, 26323690, 32296183, 32814053, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	21548880
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005814	Component	Centriole	IDA	23141541
GO:0005814	Component	Centriole	IEA
GO:0005829	Component	Cytosol	IDA	21548880
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IDA
GO:0005929	Component	Cilium	IEA
GO:0007026	Process	Negative regulation of microtubule depolymerization	IDA	26323690
GO:0007165	Process	Signal transduction	IBA
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007224	Process	Smoothened signaling pathway	ISS
GO:0008104	Process	Intracellular protein localization	IEA
GO:0008589	Process	Regulation of smoothened signaling pathway	IEA
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0015630	Component	Microtubule cytoskeleton	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0018105	Process	Peptidyl-serine phosphorylation	IDA	21548880, 30375385
GO:0019894	Function	Kinesin binding	IPI	26323690
GO:0021549	Process	Cerebellum development	IEA
GO:0021549	Process	Cerebellum development	ISS	26323690
GO:0021681	Process	Cerebellar granular layer development	IEA
GO:0021681	Process	Cerebellar granular layer development	ISS	26323690
GO:0021915	Process	Neural tube development	IEA
GO:0021935	Process	Cerebellar granule cell precursor tangential migration	IEA
GO:0021935	Process	Cerebellar granule cell precursor tangential migration	ISS	26323690
GO:0030030	Process	Cell projection organization	IEA
GO:0030334	Process	Regulation of cell migration	IGI	26323690
GO:0030900	Process	Forebrain development	IEA
GO:0033365	Process	Protein localization to organelle	IEA
GO:0035869	Component	Ciliary transition zone	IBA
GO:0035869	Component	Ciliary transition zone	IDA	23141541
GO:0035869	Component	Ciliary transition zone	IEA
GO:0035869	Component	Ciliary transition zone	ISS
GO:0036064	Component	Ciliary basal body	IBA
GO:0036064	Component	Ciliary basal body	IDA
GO:0036064	Component	Ciliary basal body	IEA
GO:0036064	Component	Ciliary basal body	ISS
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0042995	Component	Cell projection	IEA
GO:0048156	Function	Tau protein binding	NAS	28386764
GO:0050321	Function	Tau-protein kinase activity	NAS	28386764
GO:0050321	Function	Tau-protein kinase activity	TAS	26323690
GO:0051010	Function	Microtubule plus-end binding	TAS	26323690
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	IMP	23141541
GO:0060271	Process	Cilium assembly	ISS
GO:0097546	Component	Ciliary base	IEA
GO:0106310	Function	Protein serine kinase activity	IEA
GO:1902817	Process	Negative regulation of protein localization to microtubule	IMP	26323690
GO:1902857	Process	Positive regulation of non-motile cilium assembly	IEA
GO:1903828	Process	Negative regulation of protein localization	IEA
GO:1990403	Process	Embryonic brain development	IEA

MIM	HGNC	e!Ensembl
611695	19141	ENSG00000128881

Q6IQ55

Protein name

Tau-tubulin kinase 2 (EC 2.7.11.1)

Protein function

Serine/threonine kinase that acts as a key regulator of ciliogenesis: controls the initiation of ciliogenesis by binding to the distal end of the basal body and promoting the removal of CCP110, which caps the mother centriole, leading to the rec

PDB

6U0K , 6VRF , 7O3B , 7Q8Y , 7Q8Z , 7Q90

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00069	Pkinase	21 → 272	Protein kinase domain	Domain

Sequence

MSGGGEQLDILSVGILVKERWKVLRKIGGGGFGEIYDALDMLTRENVALKVESAQQPKQV
LKMEVAVLKKLQGKDHVCRFIGCGRNDRFNYVVMQLQGRNLADLRRSQSRGTFTISTTLR
LGRQILESIESIHSVGFLHRDIKPSNFAMGRFPSTCRKCYMLDFGLARQFTNSCGDVRPP
RAVAGFRGTVRYASINAHRNREMGRHDDLWSLFYMLVEFVVGQLPWRKIKDKEQVGSIKE
RYDHRLMLKHLPPEFSIFLDHISSLDYFTKPDYQLLTSVFDNSIKTFGVIESDPFDWEKT
GNDGSLTTTTTSTTPQLHTRLTPAAIGIANATPIPGDLLRENTDEVFPDEQLSDGENGIP
VGVSPDKLPGSLGHPRPQEKDVWEEMDANKNKIKLGICKAATEEENSHGQANGLLNAPSL
GSPIRVRSEITQPDRDIPLVRKLRSIHSFELEKRLTLEPKPDTDKFLETCLEKMQKDTSA
GKESILPALLHKPCVPAVSRTDHIWHYDEEYLPDASKPASANTPEQADGGGSNGFIAVNL
SSCKQEIDSKEWVIVDKEQDLQDFRTNEAVGHKTTGSPSDEEPEVLQVLEASPQDEKLQL
GPWAENDHLKKETSGVVLALSAEGPPTAASEQYTDRLELQPGAASQFIAATPTSLMEAQA
EGPLTAITIPRPSVASTQSTSGSFHCGQQPEKKDLQPMEPTVELYSPRENFSGLVVTEGE
PPSGGSRTDLGLQIDHIGHDMLPNIRESNKSQDLGPKELPDHNRLVVREFENLPGETEEK
SILLESDNEDEKLSRGQHCIEISSLPGDLVIVEKDHSATTEPLDVTKTQTFSVVPNQDKN
NEIMKLLTVGTSEISSRDIDPHVEGQIGQVAEMQKNKISKDDDIMSEDLPGHQGDLSTFL
HQEGKREKITPRNGELFHCVSENEHGAPTRKDMVRSSFVTRHSRIPVLAQEIDSTLESSS
PVSAKEKLLQKKAYQPDLVKLLVEKRQFKSFLGDLSSASDKLLEEKLATVPAPFCEEEVL
TPFSRLTVDSHLSRSAEDSFLSPIISQSRKSKIPRPVSWVNTDQVNSSTSSQFFPRPPPG
KPPTRPGVEARLRRYKVLGSSNSDSDLFSRLAQILQNGSQKPRSTTQCKSPGSPHNPKTP
PKSPVVPRRSPSASPRSSSLPRTSSSSPSRAGRPHHDQRSSSPHLGRSKSPPSHSGSSSS
RRSCQQEHCKPSKNGLKGSGSLHHHSASTKTPQGKSKPASKLSR

Sequence length

1244

Interactions

View interactions

	Reactome
			Anchoring of the basal body to the plasma membrane

143

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Spinocerebellar ataxia type 11	Likely pathogenic; Pathogenic	rs778218227, rs770444240, rs80356538, rs80356539, rs2140757755, rs318240735	RCV001647210 RCV001849234 RCV000000895 RCV000000896 RCV002226594 RCV000034277

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs34920950, rs12912026, rs116853892	RCV005925228 RCV005928549 RCV005893379
Autosomal dominant cerebellar ataxia	Likely benign; Uncertain significance	rs377202784, rs886051160, rs571544379	RCV000319628 RCV000329046 RCV000400451
Cervical cancer	Benign	rs12912026	RCV005928551
Cholangiocarcinoma	Benign	rs34920950	RCV005925230
Gastric cancer	Benign	rs12912026	RCV005928552
Malignant tumor of esophagus	Benign	rs34920950, rs12912026	RCV005925229 RCV005928550
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs12912026, rs574547214	RCV005928553 RCV005929349
Spastic ataxia	Conflicting classifications of pathogenicity	rs200125366	RCV001642984
TTBK2-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	rs754220583, rs16957250, rs368815985, rs202004988, rs200405805, rs144199562, rs180791005, rs76000738, rs200124857, rs527763642, rs369686818, rs146279300	RCV003900986 RCV003977757 RCV003392839 RCV004755869 RCV004755871 RCV003957636 RCV003920325 RCV004755870 RCV003969883 RCV003925550 RCV004756150 RCV003905032
Uterine corpus endometrial carcinoma	Benign	rs12912026	RCV005928554

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Amyotrophic Lateral Sclerosis	Associate	37059819
Ataxia	Associate	24030952
Ciliopathies	Associate	34499853
Glioma	Associate	28219405, 31858557, 32196629
Machado Joseph Disease	Associate	10417284
Spinocerebellar Ataxias	Associate	39930500
Spinocerebellar Degenerations	Associate	24030952

TTBK2 (tau tubulin kinase 2)