Gene
CTBP1
C-terminal binding protein 1
- HGNC 2494↗(opens in a new tab)
- Ensembl gene ENSG00000159692↗(opens in a new tab)
- NCBI Gene 1487↗(opens in a new tab)
Summary
- Cytogenetic location
- 4p16.3
- Coordinates
- Chromosome 4: 1,211,445–1,249,130 (GRCh38)
- Exons
- 10 exons across 37.7 kb
- Protein
- 429 amino acids
- Also known as
- BARS
- MANE Select transcript
- ENST00000382952.8NM_001012614.2
- Locus type
- Protein-coding
- Very high
- Confident
- Low
- Very low
This page as data
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How CTBP1 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 2.5 kb of the gene's 37.7 kb; 1,290 of those bases code for the protein.
Sequencing CTBP1
1
position in CTBP1 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 37.7 kb of CTBP1, introns included, not only the 2.5 kb of exons.
Traits linked to CTBP1
The Human Phenotype Ontology lists these as features of the rare conditions CTBP1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Thin dental enamel
- Abnormal lip
- Abnormality of the mouth
- Abnormality of the philtrum
- Abnormally small head
- Downturned corners of mouth
- Downward slanting of the opening between the eyelids
- Eye folds
Show 25 more traits
- Failure of development of between one and six teeth
- Frontal bossing
- High forehead
- High frontal hairline
- Highly arched eyebrow
- Little lower jaw
- Long, narrow head
- Low hairline at back of neck
- Short philtrum
- Wide nasal bridge
- Abnormality of craniofacial shape
- Beaked nose
- Cleft of the mouth
- Cleft upper lip
- Cranial defect
- Delayed eruption of teeth
- Pit in front of the ear
- Prominent area between the eyebrows
- Short upper lip
- Skin tag in front of the ear
- Taurodontia
- Cleft palate
- High palate
- Receding chin
- Webbed neck
Abnormality of the nervous system
- Ataxia
- Global developmental delay
- Inability to coordinate movements when walking
- Motor delay
- EEG abnormality
- Epilepsy
- Intellectual disability, severe
- Degeneration of cerebellum
Show 16 more traits
- Delayed ability to sit
- Delayed speech and language development
- Difficulty sleeping
- Inability to walk
- Intellectual disability
- Morphological central nervous system abnormality
- Repetitive movements
- Tethered cord
- Abnormality of movement
- Absent/small cerebellum
- Agenesis of corpus callosum
- Too much cerebrospinal fluid in the brain
- Absent septum pellucidum
- Cavum septum pellucidum
- Periventricular cysts
- Ventriculomegaly
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 2026.10.17-8666dff2.
Cite this page
Dante Labs. (n.d.). CTBP1 gene: C-terminal binding protein 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/ctbp1
Dante Labs. CTBP1 gene: C-terminal binding protein 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ctbp1
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