CTBP2

Chr 10

C-terminal binding protein 2

NCBI Gene: 1488 ENSG00000175029 UniProt: P56545 OMIM: 602619

This gene encodes a transcriptional repressor and a synaptic ribbon component essential for specialized synapses, both containing NAD+ binding domains. Mutations cause autosomal recessive developmental and epileptic encephalopathy with onset in infancy, characterized by severe intellectual disability, seizures, and visual impairment. The gene shows moderate constraint against loss-of-function variants, suggesting some tolerance to complete gene loss.

OMIM ResearchSummary from RefSeq, UniProt

This gene produces alternative transcripts encoding two distinct proteins. One protein is a transcriptional repressor, while the other isoform is a major component of specialized synapses known as synaptic ribbons. Both proteins contain a NAD+ binding domain similar to NAD+-dependent 2-hydroxyacid dehydrogenases. A portion of the 3' untranslated region was used to map this gene to chromosome 21q21.3; however, it was noted that similar loci elsewhere in the genome are likely. Blast analysis shows that this gene is present on chromosome 10. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2014]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.53

LOEUF

Mechanism· predicted