Aliases for CTBP2 Gene
External Ids for CTBP2 Gene
Previous GeneCards Identifiers for CTBP2 Gene
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]
GeneCards Summary for CTBP2 Gene
CTBP2 (C-Terminal Binding Protein 2) is a Protein Coding gene. Diseases associated with CTBP2 include Retinitis Pigmentosa 14 and Deafness, Autosomal Recessive 9. Among its related pathways are SMAD Signaling Network and phosphorylation site mutants of CTNNB1 are not targeted to the proteasome by the destruction complex. GO annotations related to this gene include chromatin binding and transcription corepressor activity. An important paralog of this gene is CTBP1.
UniProtKB/Swiss-Prot for CTBP2 Gene
Corepressor targeting diverse transcription regulators. Functions in brown adipose tissue (BAT) differentiation (By similarity).
Isoform 2 probably acts as a scaffold for specialized synapses.