• Gene id: 146057

Gene Summary

• Gene Symbol: TTBK2   Gene   UCSC   Ensembl
• Aliases: SCA11, TTBK
• Gene name: tau tubulin kinase 2
• Alternate names: tau-tubulin kinase 2,
• Gene location: 15q15.2 (42920994: 42738729)     Exons: 13     NC_000015.10
• Gene summary(Entrez): 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
• OMIM: 611695

Protein Summary

• Protein general information: Q6IQ55  
  • Name: Tau tubulin kinase 2 (EC 2.7.11.1)
  • Length: 1244  
  • Mass: 137412
• Sequence:

  MSGGGEQLDILSVGILVKERWKVLRKIGGGGFGEIYDALDMLTRENVALKVESAQQPKQVLKMEVAVLKKLQGKD
  HVCRFIGCGRNDRFNYVVMQLQGRNLADLRRSQSRGTFTISTTLRLGRQILESIESIHSVGFLHRDIKPSNFAMG
  RFPSTCRKCYMLDFGLARQFTNSCGDVRPPRAVAGFRGTVRYASINAHRNREMGRHDDLWSLFYMLVEFVVGQLP
  WRKIKDKEQVGSIKERYDHRLMLKHLPPEFSIFLDHISSLDYFTKPDYQLLTSVFDNSIKTFGVIESDPFDWEKT
  GNDGSLTTTTTSTTPQLHTRLTPAAIGIANATPIPGDLLRENTDEVFPDEQLSDGENGIPVGVSPDKLPGSLGHP
  RPQEKDVWEEMDANKNKIKLGICKAATEEENSHGQANGLLNAPSLGSPIRVRSEITQPDRDIPLVRKLRSIHSFE
  LEKRLTLEPKPDTDKFLETCLEKMQKDTSAGKESILPALLHKPCVPAVSRTDHIWHYDEEYLPDASKPASANTPE
  QADGGGSNGFIAVNLSSCKQEIDSKEWVIVDKEQDLQDFRTNEAVGHKTTGSPSDEEPEVLQVLEASPQDEKLQL
  GPWAENDHLKKETSGVVLALSAEGPPTAASEQYTDRLELQPGAASQFIAATPTSLMEAQAEGPLTAITIPRPSVA
  STQSTSGSFHCGQQPEKKDLQPMEPTVELYSPRENFSGLVVTEGEPPSGGSRTDLGLQIDHIGHDMLPNIRESNK
  SQDLGPKELPDHNRLVVREFENLPGETEEKSILLESDNEDEKLSRGQHCIEISSLPGDLVIVEKDHSATTEPLDV
  TKTQTFSVVPNQDKNNEIMKLLTVGTSEISSRDIDPHVEGQIGQVAEMQKNKISKDDDIMSEDLPGHQGDLSTFL
  HQEGKREKITPRNGELFHCVSENEHGAPTRKDMVRSSFVTRHSRIPVLAQEIDSTLESSSPVSAKEKLLQKKAYQ
  PDLVKLLVEKRQFKSFLGDLSSASDKLLEEKLATVPAPFCEEEVLTPFSRLTVDSHLSRSAEDSFLSPIISQSRK
  SKIPRPVSWVNTDQVNSSTSSQFFPRPPPGKPPTRPGVEARLRRYKVLGSSNSDSDLFSRLAQILQNGSQKPRST
  TQCKSPGSPHNPKTPPKSPVVPRRSPSASPRSSSLPRTSSSSPSRAGRPHHDQRSSSPHLGRSKSPPSHSGSSSS
  RRSCQQEHCKPSKNGLKGSGSLHHHSASTKTPQGKSKPASKLSR

• Structural information:
  • Protein Domains: (21..28-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159"-)
  • Interpro: IPR011009  IPR000719  IPR017441  
  • Prosite: PS00107 PS50011
  • STRING: ENSP00000267890
• Other Databases: GeneCards:  TTBK2  Malacards:  TTBK2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007026	negative regulation of microtubule depolymerization	IDA	biological process
GO:1904527	negative regulation of microtubule binding	IDA	biological process
GO:0004672	protein kinase activity	IDA	molecular function
GO:0048156	tau protein binding	NAS	molecular function
GO:0050321	tau-protein kinase activity	NAS	molecular function
GO:0004674	protein serine/threonine kinase activity	NAS	molecular function
GO:0050321	tau-protein kinase activity	TAS	molecular function
GO:0018105	peptidyl-serine phosphorylation	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0051010	microtubule plus-end binding	TAS	molecular function
GO:0019894	kinesin binding	IPI	molecular function
GO:1902817	negative regulation of protein localization to microtubule	IMP	biological process
GO:0021549	cerebellum development	ISS	biological process
GO:0030334	regulation of cell migration	IGI	biological process
GO:0021681	cerebellar granular layer development	ISS	biological process
GO:0000226	microtubule cytoskeleton organization	IGI	biological process
GO:0021935	cerebellar granule cell precursor tangential migration	ISS	biological process
GO:0018105	peptidyl-serine phosphorylation	IBA	biological process
GO:0035869	ciliary transition zone	IBA	cellular component
GO:0036064	ciliary basal body	IBA	cellular component
GO:0060271	cilium assembly	IBA	biological process
GO:0004674	protein serine/threonine kinase activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0018105	peptidyl-serine phosphorylation	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0060271	cilium assembly	ISS	biological process
GO:0036064	ciliary basal body	ISS	cellular component
GO:0035869	ciliary transition zone	ISS	cellular component
GO:0007224	smoothened signaling pathway	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0004672	protein kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0030030	cell projection organization	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005929	cilium	IEA	cellular component
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0097711	ciliary basal body-plasma membrane docking	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005814	centriole	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005814	centriole	IDA	cellular component
GO:0035869	ciliary transition zone	IDA	cellular component
GO:0060271	cilium assembly	IMP	biological process
GO:0005615	extracellular space	HDA	cellular component

Diseases

Associated diseases	References
Spinocerebellar ataxia	KEGG:H00063
Spinocerebellar ataxia	KEGG:H00063
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray