Gene: CIC

Alternate names for this Gene: MRD45

Gene Summary: 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.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.2

Description of this Gene: capicua transcriptional repressor

Type of Gene: protein-coding

rs112808618 in CIC gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs373584239 in CIC gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 PMID 21076407 2010 A de novo paradigm for mental retardation.

PMID 28288114 2017 Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.

rs1555773554 in CIC gene and Muscle hypotonia PMID 21076407 2010 A de novo paradigm for mental retardation.

PMID 24307393 2014 Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.

PMID 28263302 2017 Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.

PMID 28288114 2017 Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.