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Aliases for TBCK Gene

Aliases for TBCK Gene

  • TBC1 Domain Containing Kinase 2 3 5
  • TBCKL 3 4
  • TBC Domain-Containing Protein Kinase-Like Protein 3
  • HSPC302 3
  • IHPRF3 3

External Ids for TBCK Gene

Previous GeneCards Identifiers for TBCK Gene

  • GC04M106967
  • GC04M102701

Summaries for TBCK Gene

Entrez Gene Summary for TBCK Gene

  • This gene encodes a protein that contains a protein kinase domain, a Rhodanase-like domain and the Tre-2/Bub2/Cdc16 (TBC) domain. The encoded protein is thought to play a role in actin organization, cell growth and cell proliferation by regulating the mammalian target of the rapamycin (mTOR) signaling pathway. This protein may also be involved in the transcriptional regulation of the components of the mTOR complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

GeneCards Summary for TBCK Gene

TBCK (TBC1 Domain Containing Kinase) is a Protein Coding gene. Diseases associated with TBCK include Seizure Disorder and Visual Epilepsy. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is TBC1D22B.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBCK Gene

Genomics for TBCK Gene

Regulatory Elements for TBCK Gene

Enhancers for TBCK Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04F106260 0.9 ENCODE 18.6 +58.4 58436 5.3 ELF3 ZFP64 ARID4B THRB RAD21 RARA GATA4 CREM MIXL1 ZNF654 TBCK AIMP1 GC04M106256 GC04M106235
GH04F106286 1.3 Ensembl ENCODE 10.8 +33.9 33932 2.2 ATF1 MLX ARID4B DMAP1 YY1 FOS SP5 ZHX2 MXD4 MIER2 AIMP1 TBCK GC04M106256
GH04F106358 0.8 Ensembl ENCODE 10.7 -37.6 -37628 0.9 CTBP1 GATA3 JUND FOSL2 FOS TBCK AIMP1 GIMD1 GC04P106329
GH04F106311 0.9 Ensembl ENCODE 8.3 +8.6 8566 2.1 SCRT1 ZNF362 NR2F1 BHLHE40 RAD51 IKZF1 SCRT2 PRDM1 TBCK NPNT AIMP1 GC04M106256
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TBCK on UCSC Golden Path with GeneCards custom track

Genomic Location for TBCK Gene

106,041,599 bp from pter
106,321,495 bp from pter
279,897 bases
Minus strand

Genomic View for TBCK Gene

Genes around TBCK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBCK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBCK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBCK Gene

Proteins for TBCK Gene

  • Protein details for TBCK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    TBC domain-containing protein kinase-like protein
    Protein Accession:
    Secondary Accessions:
    • B9A6J1
    • Q4W5B3
    • Q4W5E1
    • Q6NUP4
    • Q8N7M8
    • Q8WW57
    • Q96GV6
    • Q9P080

    Protein attributes for TBCK Gene

    893 amino acids
    Molecular mass:
    100679 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAF28980.1; Type=Frameshift; Positions=507, 516, 660, 665, 672; Evidence={ECO:0000305}; Sequence=BAC05244.1; Type=Miscellaneous discrepancy; Note=intron retention.; Evidence={ECO:0000305};

    Alternative splice isoforms for TBCK Gene


neXtProt entry for TBCK Gene

Post-translational modifications for TBCK Gene

  • Ubiquitination at Lys 349 and Lys 706
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TBCK Gene

Domains & Families for TBCK Gene

Gene Families for TBCK Gene

Suggested Antigen Peptide Sequences for TBCK Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • The protein kinase domain is predicted to be catalytically inactive.
  • Belongs to the protein kinase superfamily.
  • The protein kinase domain is predicted to be catalytically inactive.
  • Contains 1 protein kinase domain.
  • Contains 1 Rab-GAP TBC domain.
  • Contains 1 rhodanese domain.
  • Belongs to the protein kinase superfamily.
genes like me logo Genes that share domains with TBCK: view

Function for TBCK Gene

Gene Ontology (GO) - Molecular Function for TBCK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity NAS 12471243
GO:0005096 GTPase activator activity IBA --
GO:0005524 ATP binding NAS 12471243
GO:0017137 Rab GTPase binding IBA --
genes like me logo Genes that share ontologies with TBCK: view
genes like me logo Genes that share phenotypes with TBCK: view

Animal Model Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TBCK Gene

Localization for TBCK Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TBCK gene
Compartment Confidence
cytoskeleton 5
nucleus 3
cytosol 3
plasma membrane 2
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for TBCK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IBA --
GO:0012505 endomembrane system IBA --
genes like me logo Genes that share ontologies with TBCK: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for TBCK Gene

Pathways & Interactions for TBCK Gene

No Data Available

Interacting Proteins for TBCK Gene

Selected Interacting proteins: Q8TEA7-TBCK_HUMAN for TBCK Gene via IID

Gene Ontology (GO) - Biological Process for TBCK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 NOT protein phosphorylation IEA,NAS 12471243
GO:0006886 intracellular protein transport IBA --
GO:0031338 regulation of vesicle fusion IBA --
GO:0090630 activation of GTPase activity IBA --
genes like me logo Genes that share ontologies with TBCK: view

No data available for Pathways by source and SIGNOR curated interactions for TBCK Gene

Transcripts for TBCK Gene

Unigene Clusters for TBCK Gene

TBC1 domain containing kinase:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TBCK Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
SP1: - -

Relevant External Links for TBCK Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TBCK Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TBCK Gene

Protein differential expression in normal tissues from HIPED for TBCK Gene

This gene is overexpressed in Testis (10.4), Peripheral blood mononuclear cells (9.8), and Spleen (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TBCK Gene

NURSA nuclear receptor signaling pathways regulating expression of TBCK Gene:


SOURCE GeneReport for Unigene cluster for TBCK Gene:

genes like me logo Genes that share expression patterns with TBCK: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for TBCK Gene

Orthologs for TBCK Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TBCK Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TBCK 34 35
  • 99.44 (n)
(Canis familiaris)
Mammalia TBCK 34 35
  • 93.24 (n)
(Bos Taurus)
Mammalia TBCK 34 35
  • 92.68 (n)
(Monodelphis domestica)
Mammalia TBCK 35
  • 90 (a)
(Mus musculus)
Mammalia Tbck 34 16 35
  • 89.14 (n)
(Ornithorhynchus anatinus)
Mammalia TBCK 35
  • 89 (a)
(Rattus norvegicus)
Mammalia Tbck 34
  • 87.62 (n)
(Gallus gallus)
Aves TBCK 34 35
  • 79.25 (n)
(Anolis carolinensis)
Reptilia TBCK 35
  • 87 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tbck 34
  • 73.89 (n)
(Danio rerio)
Actinopterygii tbck 34 35
  • 69.17 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4041 34 35
  • 49.29 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000552 34
  • 47.47 (n)
(Caenorhabditis elegans)
Secernentea tbck-1 34 35
  • 44.87 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GYP1 35
  • 14 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 46 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8382 34
Species where no ortholog for TBCK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TBCK Gene

Gene Tree for TBCK (if available)
Gene Tree for TBCK (if available)

Paralogs for TBCK Gene

Paralogs for TBCK Gene

genes like me logo Genes that share paralogs with TBCK: view

Variants for TBCK Gene

Sequence variations from dbSNP and Humsavar for TBCK Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
VAR_041385 A colorectal adenocarcinoma sample
VAR_041387 A head & Neck squamous cell carcinoma sample
rs374319146 Pathogenic 106,194,717(+) ACTTA(A/C/T)GAGTA intron-variant, splice-donor-variant
rs376699648 Pathogenic 106,235,355(+) TTTTT(A/T)ATATG nc-transcript-variant, reference, stop-gained
rs575822089 Pathogenic 106,262,103(+) CTTTC(A/G)GTCCA intron-variant, nc-transcript-variant, reference, stop-gained, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for TBCK Gene

Variant ID Type Subtype PubMed ID
dgv890n67 CNV loss 20364138
dgv9193n54 CNV loss 21841781
dgv9194n54 CNV loss 21841781
dgv9195n54 CNV loss 21841781
dgv9196n54 CNV loss 21841781
dgv9197n54 CNV loss 21841781
dgv9198n54 CNV loss 21841781
dgv9199n54 CNV loss 21841781
dgv9200n54 CNV loss 21841781
dgv966e199 CNV deletion 23128226
dgv97n17 CNV loss 16327808
nsv956310 CNV deletion 24416366
nsv830029 CNV gain 17160897
nsv820470 CNV deletion 20802225
nsv819407 CNV gain 19587683
nsv522792 CNV gain 19592680
nsv514239 CNV loss 21397061
nsv514238 CNV loss 21397061
nsv511247 CNV gain 21212237
nsv508301 CNV deletion 20534489
nsv499056 CNV loss 21111241
nsv4450 CNV deletion 18451855
nsv437411 CNV loss 16327808
nsv1074205 CNV deletion 25765185
nsv1014993 CNV gain 25217958
nsv1000196 CNV loss 25217958
esv6293 CNV loss 19470904
esv3779 CNV loss 18987735
esv3601681 CNV loss 21293372
esv3601680 CNV loss 21293372
esv3601677 CNV loss 21293372
esv3601676 CNV gain 21293372
esv3601675 CNV gain 21293372
esv3601674 CNV loss 21293372
esv3601673 CNV gain 21293372
esv3564388 CNV deletion 23714750
esv3377783 CNV insertion 20981092
esv3304316 CNV mobile element insertion 20981092
esv28666 CNV gain 19812545
esv2728105 CNV deletion 23290073
esv2659170 CNV deletion 23128226
esv2525124 CNV deletion 19546169
esv23259 CNV loss 19812545

Variation tolerance for TBCK Gene

Residual Variation Intolerance Score: 18.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.47; 82.11% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TBCK Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBCK Gene

Disorders for TBCK Gene

MalaCards: The human disease database

(2) MalaCards diseases for TBCK Gene - From: ClinVar

Disorder Aliases PubMed IDs
seizure disorder
  • epilepsy
visual epilepsy
  • epilepsy, visual
- elite association - COSMIC cancer census association via MalaCards
Search TBCK in MalaCards View complete list of genes associated with diseases

Relevant External Links for TBCK

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with TBCK: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TBCK Gene

Publications for TBCK Gene

  1. The protein kinase complement of the human genome. (PMID: 12471243) Manning G. … Sudarsanam S. (Science 2002) 2 3 4 64
  2. A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts. (PMID: 20332099) Kalsi G. … Riley B.P. (Hum. Mol. Genet. 2010) 3 46 64
  3. Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. (PMID: 19077034) Ishibashi K. … Fukuda M. (Genes Cells 2009) 3 4 64
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for TBCK Gene

Sources for TBCK Gene

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