Gene
TBCK
TBC1 domain containing kinase
- HGNC 28261↗(opens in a new tab)
- Ensembl gene ENSG00000145348↗(opens in a new tab)
- NCBI Gene 93627↗(opens in a new tab)
Summary
- Cytogenetic location
- 4q24
- Coordinates
- Chromosome 4: 106,041,599–106,316,209 (GRCh38)
- Exons
- 26 exons across 274.6 kb
- Protein
- 893 amino acids
- Also known as
- MGC16169, HSPC302, Fy-1, FERRY1
- MANE Select transcript
- ENST00000394708.7NM_001163435.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads TBCK yet. The test sequences your whole genome, so your data includes it all the same.
How TBCK is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 8 kb of the gene's 274.6 kb; 2,682 of those bases code for the protein.
How a genome test reads TBCK
64
positions in TBCK where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 274.6 kb of TBCK, introns included, not only the 8 kb of exons.
Traits linked to TBCK
The Human Phenotype Ontology lists these as features of the rare conditions TBCK can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Absent reflexes
- Bilateral tonic-clonic seizure with focal onset
- Delayed speech and language development
- Extra-axial cerebrospinal fluid accumulation
- Global developmental delay
- Hyperintensity of cerebral white matter on MRI
- IQ less than 20
- Profound global developmental delay
Show 33 more traits
- Reduced brain N-acetyl aspartate level by MRS
- Thin corpus callosum
- Ventriculomegaly
- Decreased reflex response
- Motor delay
- Abnormal periventricular white matter morphology
- Absent speech development
- Decreased compound muscle action potential amplitude
- Diminished deep tendon reflex
- Epilepsy
- Generalized brain degeneration
- Inability to walk
- Loss of developmental milestones
- Multifocal epileptiform discharges
- Multifocal seizures
- Severe global developmental delay
- Too much cerebrospinal fluid in the brain
- Underdevelopment of part of brain called corpus callosum
- Cognitive impairment
- Degeneration of cerebellum
- EEG with generalized epileptiform discharges
- Partial agenesis of the corpus callosum
- Periventricular leukomalacia
- Autism
- Bipolar disorder
- Brain degeneration
- Cerebellar vermis hypoplasia
- Degeneration of cerebrum
- Dysplastic corpus callosum
- Encephalopathy
- Poor speech
- Small basal ganglia
- Small cerebellum
Abnormality of head or neck
- Enlarged cisterna magna
- Broad head shape
- Exaggerated cupid's bow
- Narrow forehead
- Abnormal facial shape
- Abnormally large tongue
- Big calvaria
- Coarse facial features
Show 26 more traits
- Gum enlargement
- High palate
- Highly arched eyebrow
- Nasal tip, upturned
- Prominent nasal bridge
- Tented mouth
- Big lower jaw
- Broad forehead
- Bulbous nose
- Eye folds
- Full lips
- High, narrow palate
- Little lower jaw
- Long eyelashes
- Long philtrum
- Monobrow
- Myopathic facies
- Open mouth
- Prominent metopic ridge
- Short neck
- Sloping forehead
- Tall shaped head
- Thick eyebrow
- Upward slanting of the opening between the eyelids
- Wide nasal bridge
- Abnormally small head
Abnormality of limbs
- Acromelia
- Limb muscle weakness
- Overlapping toe
- Single transverse palmar crease
- Limb undergrowth
- Tapered finger
- Broad finger
- Broad toe
Show 2 more traits
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). TBCK gene: TBC1 domain containing kinase. Retrieved 17 October 2026, from https://dantelabs.com/genes/tbck
Dante Labs. TBCK gene: TBC1 domain containing kinase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tbck
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