CIC
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. [provided by RefSeq, Feb 2015].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| capicua transcriptional repressor | MIM:612082 | Ensembl:ENSG00000079432 | HGNC:HGNC:14214 | PA26513 | 19q13.2 |
Gene Categories:
CLINICALLY ACTIONABLEGO terms in CIC
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IBA | GO:0005634 | nucleus |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | IEA | GO:0032991 | protein-containing complex |
| CC | IDA | GO:0043231 | intracellular membrane-bounded organelle |
| BP | IBA | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0006351 | transcription, DNA-templated |
| BP | ISS | GO:0007420 | brain development |
| BP | ISS | GO:0007612 | learning |
| BP | ISS | GO:0007613 | memory |
| BP | ISS | GO:0035176 | social behavior |
| BP | ISS | GO:0045892 | negative regulation of transcription, DNA-templated |
| BP | IEA | GO:0048286 | lung alveolus development |
| MF | ISA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | ISM | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | NAS | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | IEA | GO:0003677 | DNA binding |
| MF | IEA | GO:0003682 | chromatin binding |
| MF | IPI | GO:0005515 | protein binding |
Gene expression in normal tissue: CIC
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CIC
| Database | Pathway ID | Pathway Des. |
|---|
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD150 | RITA | 7 |
| iGMDRD405 | PIK-75 | 3 |
| iGMDRD48 | Dexamethasone | 1 |
| iGMDRD512 | nutlin 3 | 1 |
| iGMDRD177 | Teniposide | 3 |
| iGMDRD341 | Triacsin c | 4 |
| iGMDRD698 | Neratinib | 3 |
| iGMDRD434 | BMS-536924 | 4 |
| iGMDRD77 | Itraconazole | 3 |
| iGMDRD137 | Indisulam | 3 |
| iGMDRD147 | Prima-1 | 1 |
| iGMDRD505 | Pevonedistat | 2 |
| iGMDRD322 | FK 866 | 3 |
| iGMDRD82 | Quiflapon | 3 |
| iGMDRD872 | BRD7137 | 2 |
| iGMDRD414 | MST-312 | 2 |
| iGMDRD286 | Nsc 632839 | 1 |
| iGMDRD871 | BRD6368 | 2 |
| iGMDRD144 | NSC95397 | 2 |
| iGMDRD781 | Sirolimus | 8 |
| iGMDRD494 | Neopeltolide | 3 |
| iGMDRD126 | Tipifarnib | 6 |
| iGMDRD420 | Leucascandrolide A | 3 |
| iGMDRD889 | Compound 7d-cis | 2 |
| iGMDRD280 | CYTOCHALASIN B | 3 |
| iGMDRD679 | Bistramide A | 7 |
| iGMDRD466 | Chaetocin | 3 |
| iGMDRD297 | Austocystin D | 1 |
| iGMDRD470 | Trametinib | 1 |
| iGMDRD375 | GW-405833 | 3 |
| iGMDRD71 | Sparfosic acid | 3 |
| iGMDRD608 | Refametinib | 1 |
| iGMDRD446 | LY 2183240 | 3 |
| iGMDRD61 | Kinetin riboside | 4 |
| iGMDRD171 | Pemetrexed | 1 |
| iGMDRD870 | BRD63610 | 1 |
| iGMDRD513 | BML-259 | 3 |
| iGMDRD270 | Ciclosporin | 3 |
| iGMDRD255 | SB225002 | 2 |
| iGMDRD64 | Parbendazole | 1 |
| iGMDRD524 | ISX-9 | 3 |
| iGMDRD356 | PNU-74654 | 3 |
| iGMDRD399 | Selumetinib | 3 |
| iGMDRD74 | Idarubicin | 2 |
| iGMDRD887 | Compound 23 citrate | 3 |
| iGMDRD100 | Zebularine | 3 |
| iGMDRD188 | Piperlongumine | 2 |
| iGMDRD780 | PP-30 | 2 |
| iGMDRD398 | Sepantronium | 2 |
| iGMDRD562 | Navitoclax | 6 |
| iGMDRD577 | BIX01294 | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CIC
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