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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 Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 and Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies. 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 TBC1D22A.

UniProtKB/Swiss-Prot for TBCK Gene

  • Involved in the modulation of mTOR signaling and expression of mTOR complex components (PubMed:27040691, PubMed:23977024). Involved in the regulation of cell proliferation and growth (PubMed:23977024, PubMed:24576458). Involved in the control of actin-cytoskeleton organization (PubMed:23977024).

No data available for CIViC summary , 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
GH04G106260 0.9 ENCODE 18.7 +58.4 58436 5.3 ELF3 HNRNPUL1 FOXA2 NFIB ZFP64 ARID4B THRB RAD21 RARA GATA4 TBCK AIMP1 GC04M106256 GC04M106235
GH04G106343 0.8 dbSUPER 19.1 -23.2 -23176 1.7 SOX13 FOXA2 SUZ12 CEBPG ZBTB40 ZSCAN9 GATA3 ZNF316 MAFK CREM TBCK AIMP1 GC04P106329 GIMD1
GH04G106286 1.2 Ensembl ENCODE 10.8 +33.9 33932 2.2 FOXA2 ATF1 MLX ARID4B DMAP1 YY1 FOS SP5 ZHX2 MXD4 AIMP1 TBCK GC04M106256
GH04G106266 0.7 Ensembl 17 +55.1 55095 0.4 DRAP1 CTCF ZSCAN9 RAD21 ZSCAN5C ZNF143 SMC3 HOMEZ MIXL1 GATAD2A TBCK AIMP1 GC04M106256 GC04M106235
GH04G106314 1.4 ENCODE dbSUPER 8.3 +5.1 5087 4.0 HDGF PKNOX1 FOXA2 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2 TBCK NPNT AIMP1
- 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

Chromosome:
4
Start:
106,041,599 bp from pter
End:
106,321,495 bp from pter
Size:
279,897 bases
Orientation:
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:
    Q8TEA7-TBCK_HUMAN
    Recommended name:
    TBC domain-containing protein kinase-like protein
    Protein Accession:
    Q8TEA7
    Secondary Accessions:
    • B9A6J1
    • Q4W5B3
    • Q4W5E1
    • Q6NUP4
    • Q8N7M8
    • Q8WW57
    • Q96GV6
    • Q9P080

    Protein attributes for TBCK Gene

    Size:
    893 amino acids
    Molecular mass:
    100679 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for TBCK Gene

Post-translational modifications for TBCK Gene

  • Ubiquitination at Lys349 and posLast=706706
  • 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

Q8TEA7

UniProtKB/Swiss-Prot:

TBCK_HUMAN :
  • The protein kinase domain is predicted to be catalytically inactive.
  • Belongs to the protein kinase superfamily.
Domain:
  • The protein kinase domain is predicted to be catalytically inactive.
Family:
  • Belongs to the protein kinase superfamily.
genes like me logo Genes that share domains with TBCK: view

Function for TBCK Gene

Molecular function for TBCK Gene

UniProtKB/Swiss-Prot Function:
Involved in the modulation of mTOR signaling and expression of mTOR complex components (PubMed:27040691, PubMed:23977024). Involved in the regulation of cell proliferation and growth (PubMed:23977024, PubMed:24576458). Involved in the control of actin-cytoskeleton organization (PubMed:23977024).

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

CRISPR Products

Inhibitory RNA Products

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

Localization for TBCK Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBCK Gene

Cytoplasm. Cytoplasm, cytoskeleton, spindle. Midbody. Note=Mainly localized in the cytoplasm during interphase. During metaphase, TBCK accumulates at the mitotic spindle. At the end of mitosis, it is detected at the midbody. {ECO:0000269 PubMed:24576458}.

Subcellular locations from

COMPARTMENTS
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:0005737 cytoplasm IEA,IDA 24576458
GO:0005819 spindle IEA --
GO:0005856 cytoskeleton IEA --
GO:0012505 endomembrane system IBA --
genes like me logo Genes that share ontologies with TBCK: view

Pathways & Interactions for TBCK Gene

No Data Available

Interacting Proteins for TBCK Gene

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:0008283 cell proliferation IMP 23977024
GO:0016049 cell growth IMP 23977024
GO:0030036 actin cytoskeleton organization IMP 23977024
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

Drugs & Compounds for TBCK Gene

No Compound Related Data Available

Transcripts for TBCK Gene

Unigene Clusters for TBCK Gene

TBC1 domain containing kinase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
SP1: - -
SP2:
SP3:

Relevant External Links for TBCK Gene

GeneLoc Exon Structure for
TBCK
ECgene alternative splicing isoforms for
TBCK

Expression for TBCK Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for TBCK Gene



NURSA nuclear receptor signaling pathways regulating expression of TBCK Gene:

TBCK

SOURCE GeneReport for Unigene cluster for TBCK Gene:

Hs.292986

Evidence on tissue expression from TISSUES for TBCK Gene

  • Nervous system(4.8)
  • Blood(4.1)
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 , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia TBCK 34 35
  • 99.44 (n)
dog
(Canis familiaris)
Mammalia TBCK 34 35
  • 93.24 (n)
cow
(Bos Taurus)
Mammalia TBCK 34 35
  • 92.68 (n)
oppossum
(Monodelphis domestica)
Mammalia TBCK 35
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tbck 34 16 35
  • 89.14 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TBCK 35
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tbck 34
  • 87.62 (n)
chicken
(Gallus gallus)
Aves TBCK 34 35
  • 79.25 (n)
lizard
(Anolis carolinensis)
Reptilia TBCK 35
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbck 34
  • 73.89 (n)
zebrafish
(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)
worm
(Caenorhabditis elegans)
Secernentea tbck-1 34 35
  • 44.87 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GYP1 35
  • 14 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 46 (a)
OneToOne
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

ENSEMBL:
Gene Tree for TBCK (if available)
TreeFam:
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
VAR_077816 Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (IHPRF3) [MIM:616900]
VAR_077817 Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (IHPRF3) [MIM:616900]
rs374319146 Pathogenic 106,194,717(+) ACTTA(A/C/T)GAGTA intron-variant, splice-donor-variant

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
esv23259 CNV loss 19812545
esv2525124 CNV deletion 19546169
esv2659170 CNV deletion 23128226
esv2728105 CNV deletion 23290073
esv28666 CNV gain 19812545
esv3304316 CNV mobile element insertion 20981092
esv3377783 CNV insertion 20981092
esv3564388 CNV deletion 23714750
esv3601673 CNV gain 21293372
esv3601674 CNV loss 21293372
esv3601675 CNV gain 21293372
esv3601676 CNV gain 21293372
esv3601677 CNV loss 21293372
esv3601680 CNV loss 21293372
esv3601681 CNV loss 21293372
esv3779 CNV loss 18987735
esv6293 CNV loss 19470904
nsv1000196 CNV loss 25217958
nsv1014993 CNV gain 25217958
nsv1074205 CNV deletion 25765185
nsv437411 CNV loss 16327808
nsv4450 CNV deletion 18451855
nsv499056 CNV loss 21111241
nsv508301 CNV deletion 20534489
nsv511247 CNV gain 21212237
nsv514238 CNV loss 21397061
nsv514239 CNV loss 21397061
nsv522792 CNV gain 19592680
nsv819407 CNV gain 19587683
nsv820470 CNV deletion 20802225
nsv830029 CNV gain 17160897
nsv956310 CNV deletion 24416366

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)
TBCK
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBCK

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

Disorders for TBCK Gene

MalaCards: The human disease database

(3) MalaCards diseases for TBCK Gene - From: ClinVar, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • ihprf3
hypotonia, infantile, with psychomotor retardation and characteristic facies
  • hypotonia, infantile, with psychomotor retardation and characteristic facies 1
hypotonia
- elite association - COSMIC cancer census association via MalaCards
Search TBCK in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TBCK_HUMAN
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (IHPRF3) [MIM:616900]: An autosomal recessive neurodevelopmental disorder characterized by profound developmental disability, intellectual disability and severe hypotonia. Many patients have seizures, and show brain atrophy, dysgenesis of the corpus callosum and white-matter changes on neuroimaging. Non-specific facial dysmorphism is noted in some individuals. {ECO:0000269 PubMed:25558065, ECO:0000269 PubMed:27040691, ECO:0000269 PubMed:27040692}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TBCK

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

No data available for 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. Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia. (PMID: 27040691) Bhoj E.J. … Hakonarson H. (Am. J. Hum. Genet. 2016) 3 4 64
  3. Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy. (PMID: 27040692) Chong J.X. … Doherty D. (Am. J. Hum. Genet. 2016) 3 4 64
  4. A Long Type of TBCK Is a Novel Cytoplasmic and Mitotic Apparatus-Associated Protein Likely Suppressing Cell Proliferation. (PMID: 24576458) Wu J. … Zeng C. (J Genet Genomics 2014) 3 4 64
  5. TBCK influences cell proliferation, cell size and mTOR signaling pathway. (PMID: 23977024) Liu Y. … Zhou T. (PLoS ONE 2013) 3 4 64

Products for TBCK Gene

  • Addgene plasmids for TBCK

Sources for TBCK Gene

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