Seroatlas · Human Serome Atlas

TTBK2

Tau-tubulin kinase 2

Also known as: KIAA0847, SCA11, TTBK2_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q6IQ55
Gene: TTBK2
Ensembl: ENSG00000128881
Chromosome: 15
Canonical length: 1244 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
Subcellular location: Microtubules,Primary cilium,Primary cilium transition zone,Basal body,Cytosol

OverviewNCBI Gene

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 cerebellum and brainstem. [provided by RefSeq, Aug 2009]

Canonical amino-acid sequenceUniProt

1244 residues, UniProt reviewed canonical sequence.

>Q6IQ55|TTBK2
     1  MSGGGEQLDI LSVGILVKER WKVLRKIGGG GFGEIYDALD MLTRENVALK VESAQQPKQV
    61  LKMEVAVLKK LQGKDHVCRF IGCGRNDRFN YVVMQLQGRN LADLRRSQSR GTFTISTTLR
   121  LGRQILESIE SIHSVGFLHR DIKPSNFAMG RFPSTCRKCY MLDFGLARQF TNSCGDVRPP
   181  RAVAGFRGTV RYASINAHRN REMGRHDDLW SLFYMLVEFV VGQLPWRKIK DKEQVGSIKE
   241  RYDHRLMLKH LPPEFSIFLD HISSLDYFTK PDYQLLTSVF DNSIKTFGVI ESDPFDWEKT
   301  GNDGSLTTTT TSTTPQLHTR LTPAAIGIAN ATPIPGDLLR ENTDEVFPDE QLSDGENGIP
   361  VGVSPDKLPG SLGHPRPQEK DVWEEMDANK NKIKLGICKA ATEEENSHGQ ANGLLNAPSL
   421  GSPIRVRSEI TQPDRDIPLV RKLRSIHSFE LEKRLTLEPK PDTDKFLETC LEKMQKDTSA
   481  GKESILPALL HKPCVPAVSR TDHIWHYDEE YLPDASKPAS ANTPEQADGG GSNGFIAVNL
   541  SSCKQEIDSK EWVIVDKEQD LQDFRTNEAV GHKTTGSPSD EEPEVLQVLE ASPQDEKLQL
   601  GPWAENDHLK KETSGVVLAL SAEGPPTAAS EQYTDRLELQ PGAASQFIAA TPTSLMEAQA
   661  EGPLTAITIP RPSVASTQST SGSFHCGQQP EKKDLQPMEP TVELYSPREN FSGLVVTEGE
   721  PPSGGSRTDL GLQIDHIGHD MLPNIRESNK SQDLGPKELP DHNRLVVREF ENLPGETEEK
   781  SILLESDNED EKLSRGQHCI EISSLPGDLV IVEKDHSATT EPLDVTKTQT FSVVPNQDKN
   841  NEIMKLLTVG TSEISSRDID PHVEGQIGQV AEMQKNKISK DDDIMSEDLP GHQGDLSTFL
   901  HQEGKREKIT PRNGELFHCV SENEHGAPTR KDMVRSSFVT RHSRIPVLAQ EIDSTLESSS
   961  PVSAKEKLLQ KKAYQPDLVK LLVEKRQFKS FLGDLSSASD KLLEEKLATV PAPFCEEEVL
  1021  TPFSRLTVDS HLSRSAEDSF LSPIISQSRK SKIPRPVSWV NTDQVNSSTS SQFFPRPPPG
  1081  KPPTRPGVEA RLRRYKVLGS SNSDSDLFSR LAQILQNGSQ KPRSTTQCKS PGSPHNPKTP
  1141  PKSPVVPRRS PSASPRSSSL PRTSSSSPSR AGRPHHDQRS SSPHLGRSKS PPSHSGSSSS
  1201  RRSCQQEHCK PSKNGLKGSG SLHHHSASTK TPQGKSKPAS KLSR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TTBK2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.59
Highest tissue expression: 28 nTPM

Expression across tissuesHPA

Tissue

testis: 28 nTPM
retina: 16 nTPM
cerebellum: 9.9 nTPM
cerebral cortex: 9.5 nTPM
skeletal muscle: 8.3 nTPM
hypothalamus: 7.6 nTPM

Single-cell type

choroid plexus epithelial cells: 268 nCPM
myonuclei: 266 nCPM
late spermatids: 255 nCPM
respiratory ciliated cells: 223 nCPM
rod photoreceptor cells: 216 nCPM
thyrotrophs: 200 nCPM

Immune cell

classical monocyte: 0.5 nTPM
MAIT T-cell: 0.5 nTPM
NK-cell: 0.4 nTPM
intermediate monocyte: 0.3 nTPM
memory B-cell: 0.3 nTPM
naive B-cell: 0.3 nTPM

Brain region

cerebral cortex: 82 nTPM
pons: 82 nTPM
thalamus: 78 nTPM
medulla oblongata: 76 nTPM
hypothalamus: 72 nTPM
white matter: 69 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TTBK2.

Disease | AllUniProt

Conditions TTBK2 is implicated in, by any mechanism.

Spinocerebellar ataxia 11 (SCA11) MIM:604432

Disease | GeneticClinVar

10 pathogenic / likely-pathogenic of 540 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Spinocerebellar ataxia type 11

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.26
gnomAD pLI: 1
gnomAD missense Z: 1.39
DepMap mean gene effect: -0.06
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

Protein kinase domain
Protein kinase-like domain superfamily
Protein kinase, ATP binding site
Casein kinase 1/Serine/threonine-protein kinase-like
Protein kinase domain
Tau-Tubulin Kinase 2, catalytic domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of TTBK2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TTBK2 as an antibody target. Whether an autoantibody or antibody against TTBK2 could matter depends on whether native TTBK2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TTBK2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label TTBK2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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