Aliases for CIC Gene
External Ids for CIC Gene
Previous GeneCards Identifiers for CIC Gene
The protein encoded by this gene is an ortholog of the Drosophila melanogaster capicua gene, and is a member of the high mobility group (HMG)-box superfamily of transcriptional repressors. This protein contains a conserved HMG domain that is involved in DNA binding and nuclear localization, and a conserved C-terminus. Studies suggest that the N-terminal region of this protein interacts with Atxn1 (GeneID:6310), to form a transcription repressor complex, and in vitro studies suggest that polyglutamine-expansion of ATXN1 may alter the repressor activity of this complex. Mutations in this gene have been associated with olidogdendrogliomas (PMID:21817013). In addition, translocation events resulting in gene fusions of this gene with both DUX4 (GeneID:100288687) and FOXO4 (GeneID:4303) have been associated with round cell sarcomas. There are multiple pseudogenes of this gene found on chromosomes 1, 4, 6, 7, 16, 20, and the Y chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]
GeneCards Summary for CIC Gene
CIC (Capicua Transcriptional Repressor) is a Protein Coding gene. Diseases associated with CIC include Mental Retardation, Autosomal Dominant 45 and Autosomal Dominant Non-Syndromic Intellectual Disability. Gene Ontology (GO) annotations related to this gene include chromatin binding. An important paralog of this gene is BBX.
UniProtKB/Swiss-Prot for CIC Gene
Transcriptional repressor which plays a role in development of the central nervous system (CNS). In concert with ATXN1 and ATXN1L, involved in brain development.