Gene
TBCE
tubulin folding cofactor E
- HGNC 11582(opens in a new tab)
- Ensembl gene ENSG00000284770(opens in a new tab)
- NCBI Gene 6905(opens in a new tab)
Summary
- Cytogenetic location
- 1q42.3
- Coordinates
- Chromosome 1: 235,367,427–235,452,443 (GRCh38)
- Exons
- 17 exons across 85 kb
- Protein
- 527 amino acids
- Also known as
- KCS1, pac2
- Previous symbols
- KCS, HRD
- MANE Select transcript
- ENST00000642610.2NM_003193.5
- 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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How TBCE 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 5.4 kb of the gene's 85 kb; 1,584 of those bases code for the protein.
How a genome test reads TBCE
16
positions in TBCE 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 85 kb of TBCE, introns included, not only the 5.4 kb of exons.
Traits linked to TBCE
The Human Phenotype Ontology lists these as features of the rare conditions TBCE can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Epilepsy
- Global developmental delay
- Intellectual disability
- Low calcium seizures
- Progressive brain disease
- Spastic ataxia
- Absent speech development
- Ataxia
Show 11 more traits
- Degeneration of cerebellum
- Difficulty articulating speech
- Hypocalcemic tetany
- Loss of developmental milestones
- Peripheral axonal neuropathy
- Underdevelopment of part of brain called corpus callosum
- Iron accumulation in substantia nigra
- Loss of articulate speech
- Ventriculomegaly
- Delayed myelination
- Encephalopathy
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.). TBCE gene: tubulin folding cofactor E. Retrieved 17 October 2026, from https://dantelabs.com/genes/tbce
Dante Labs. TBCE gene: tubulin folding cofactor E [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tbce
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