CTBP2 Chromosome 10

C-terminal binding protein 2
3 variants 3 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
MicroRNA protein coding host genes
Locus Type
gene with protein product
Location
10q26.13
Ensembl
ENSG00000175029
Associated Conditions (1)
Pulmonary artery atresia
Key Variants
All Variants (3)
RSID Category Clinical Significance Conditions
RS755416442 Health Risk Pathogenic Pulmonary artery atresia, Pulmonary artery atresia
RS76079088 Health Risk Pathogenic Pulmonary artery atresia, Pulmonary artery atresia
RS76203768 Health Risk Pathogenic Pulmonary artery atresia, Pulmonary artery atresia
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