Gene
TBCD
tubulin folding cofactor D
- HGNC 11581↗(opens in a new tab)
- Ensembl gene ENSG00000141556↗(opens in a new tab)
- NCBI Gene 6904↗(opens in a new tab)
Summary
- Cytogenetic location
- 17q25.3
- Coordinates
- Chromosome 17: 82,752,065–82,945,914 (GRCh38)
- Exons
- 39 exons across 193.9 kb
- Protein
- 1,192 amino acids
- MANE Select transcript
- ENST00000355528.9NM_005993.5
- 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 TBCD yet. The test sequences your whole genome, so your data includes it all the same.
How TBCD 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 7.2 kb of the gene's 193.9 kb; 3,579 of those bases code for the protein.
How a genome test reads TBCD
28
positions in TBCD 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 193.9 kb of TBCD, introns included, not only the 7.2 kb of exons.
Traits linked to TBCD
The Human Phenotype Ontology lists these as features of the rare conditions TBCD can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Delayed speech and language development
- Global developmental delay
- Intellectual disability
- Brisk reflexes
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Epilepsy
- Underdevelopment of part of brain called corpus callosum
- Absent speech development
Show 26 more traits
- Ataxia
- Cerebral hypomyelination
- Degeneration of cerebellum
- Generalized tonic seizure
- Grand mal seizures
- Inability to walk
- IQ less than 20
- Loss of developmental milestones
- Paralysis of all four limbs
- Poor speech
- Absent reflexes
- Atrophy/Degeneration affecting the brainstem
- Cataplexy
- CNS hypomyelination
- Epileptic spasm
- IQ between 34 and 49
- Muscle twitch
- Ventriculomegaly
- Dystonia
- Febrile seizure (within the age range of 3 months to 6 years)
- Motor axonal neuropathy
- Repetitive movements
- Diffuse cerebral atrophy
- Encephalopathy
- Gliosis
- Loss of brain cells
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.). TBCD gene: tubulin folding cofactor D. Retrieved 16 October 2026, from https://dantelabs.com/genes/tbcd
Dante Labs. TBCD gene: tubulin folding cofactor D [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/tbcd
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