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Aliases for CIC Gene

Aliases for CIC Gene

  • Capicua Transcriptional Repressor 2 3 5
  • Capicua (Drosophila) Homolog 2
  • Capicua Homolog (Drosophila) 2
  • KIAA0306 4

External Ids for CIC Gene

Previous GeneCards Identifiers for CIC Gene

  • GC19P043435
  • GC19P043180
  • GC19P047454
  • GC19P047480
  • GC19P042788
  • GC19P039219
  • GC19P042772

Summaries for CIC Gene

Entrez Gene Summary 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 Superficial Mycosis and Oligodendroglioma. 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 may play a role in development of the central nervous system (CNS).

Gene Wiki entry for CIC Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CIC Gene

Genomics for CIC Gene

Regulatory Elements for CIC Gene

Enhancers for CIC Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around CIC on UCSC Golden Path with GeneCards custom track

Promoters for CIC Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for CIC Gene

Chromosome:
19
Start:
42,268,537 bp from pter
End:
42,295,797 bp from pter
Size:
27,261 bases
Orientation:
Plus strand

Genomic View for CIC Gene

Genes around CIC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CIC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CIC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CIC Gene

Proteins for CIC Gene

  • Protein details for CIC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96RK0-CIC_HUMAN
    Recommended name:
    Protein capicua homolog
    Protein Accession:
    Q96RK0
    Secondary Accessions:
    • Q7LGI1
    • Q9UEG5
    • Q9Y6T1

    Protein attributes for CIC Gene

    Size:
    1608 amino acids
    Molecular mass:
    163820 Da
    Quaternary structure:
    • Interacts with ATXN1 and ATXN1L.
    Miscellaneous:
    • Expressed in medulloblastoma, a pediatric brain tumor which may arise from the granule cell lineage.
    SequenceCaution:
    • Sequence=AAD11988.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CIC Gene

neXtProt entry for CIC Gene

Post-translational modifications for CIC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for CIC Gene

Domains & Families for CIC Gene

Protein Domains for CIC Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CIC Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96RK0

UniProtKB/Swiss-Prot:

CIC_HUMAN :
  • Contains 1 HMG box DNA-binding domain.
Domain:
  • Contains 1 HMG box DNA-binding domain.
genes like me logo Genes that share domains with CIC: view

No data available for Gene Families for CIC Gene

Function for CIC Gene

Molecular function for CIC Gene

UniProtKB/Swiss-Prot Function:
Transcriptional repressor which may play a role in development of the central nervous system (CNS).

Gene Ontology (GO) - Molecular Function for CIC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IEA --
GO:0005515 protein binding IEA,IPI 16713569
genes like me logo Genes that share ontologies with CIC: view
genes like me logo Genes that share phenotypes with CIC: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CIC Gene

Localization for CIC Gene

Subcellular locations from UniProtKB/Swiss-Prot for CIC Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CIC Gene COMPARTMENTS Subcellular localization image for CIC gene
Compartment Confidence
nucleus 5
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CIC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
genes like me logo Genes that share ontologies with CIC: view

Pathways & Interactions for CIC Gene

SuperPathways for CIC Gene

No Data Available

SIGNOR curated interactions for CIC Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for CIC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IBA --
GO:0006351 transcription, DNA-templated IEA --
GO:0048286 lung alveolus development IEA --
genes like me logo Genes that share ontologies with CIC: view

No data available for Pathways by source for CIC Gene

Drugs & Compounds for CIC Gene

No Compound Related Data Available

Transcripts for CIC Gene

Unigene Clusters for CIC Gene

Capicua transcriptional repressor:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CIC Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b · 16c ^ 17 ^ 18 ^ 19 ^ 20
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for CIC Gene

GeneLoc Exon Structure for
CIC
ECgene alternative splicing isoforms for
CIC

Expression for CIC Gene

mRNA expression in normal human tissues for CIC Gene

Protein differential expression in normal tissues from HIPED for CIC Gene

This gene is overexpressed in Pancreas (16.3), Peripheral blood mononuclear cells (14.5), and Fetal testis (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CIC Gene



Protein tissue co-expression partners for CIC Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CIC Gene:

CIC

SOURCE GeneReport for Unigene cluster for CIC Gene:

Hs.388236

mRNA Expression by UniProt/SwissProt for CIC Gene:

Q96RK0-CIC_HUMAN
Tissue specificity: Expressed in fetal brain.
genes like me logo Genes that share expression patterns with CIC: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for CIC Gene

Orthologs for CIC Gene

This gene was present in the common ancestor of animals.

Orthologs for CIC Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia CIC 34
  • 90.22 (n)
  • 94.27 (a)
CIC 35
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cic 34
  • 87.72 (n)
  • 92.07 (a)
Cic 16
Cic 35
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CIC 34
  • 99.59 (n)
  • 99.75 (a)
CIC 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cic 34
  • 87.97 (n)
  • 92.25 (a)
cow
(Bos Taurus)
Mammalia CIC 35
  • 59 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CIC 35
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CIC 35
  • 17 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii Dr.13863 34
cica 35
  • 22 (a)
OneToMany
cicb 35
  • 23 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta cic 36
  • 63 (a)
bbx 35
  • 8 (a)
ManyToMany
cic 35
  • 11 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea gei-3 36
  • 48 (a)
gei-3 35
  • 15 (a)
OneToMany
Species where no ortholog for CIC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for CIC Gene

ENSEMBL:
Gene Tree for CIC (if available)
TreeFam:
Gene Tree for CIC (if available)

Paralogs for CIC Gene

Paralogs for CIC Gene

(7) SIMAP similar genes for CIC Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with CIC: view

Variants for CIC Gene

Sequence variations from dbSNP and Humsavar for CIC Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs17339472 - 42,292,143(+) CCCTG(A/G)GCCCA nc-transcript-variant, reference, missense
VAR_035936 A breast cancer sample
rs770323488 A breast cancer sample 42,290,722(+) CCCCC(A/C/G)CCCCA nc-transcript-variant, reference, missense
VAR_065090 -
rs10425883 -- 42,289,793(+) TTTCT(C/T)CTGGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CIC Gene

Variant ID Type Subtype PubMed ID
esv2422471 CNV deletion 17116639
esv28255 CNV gain 19812545
nsv1160627 CNV deletion 26073780
nsv520239 CNV loss 19592680
nsv522854 CNV gain 19592680
nsv526186 CNV gain 19592680
nsv833834 CNV loss 17160897
nsv953583 CNV deletion 24416366

Variation tolerance for CIC Gene

Residual Variation Intolerance Score: 0.452% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.22; 52.40% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CIC Gene

Human Gene Mutation Database (HGMD)
CIC
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CIC

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CIC Gene

Disorders for CIC Gene

MalaCards: The human disease database

(4) MalaCards diseases for CIC Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
superficial mycosis
  • piedra
oligodendroglioma
  • oligodendroglial neoplasm
pityriasis versicolor
  • infection by pityrosporum furfur
spinocerebellar ataxia 1
  • spinocerebellar ataxia type 1
- elite association - COSMIC cancer census association via MalaCards
Search CIC in MalaCards View complete list of genes associated with diseases

Relevant External Links for CIC

Genetic Association Database (GAD)
CIC
Human Genome Epidemiology (HuGE) Navigator
CIC
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CIC
genes like me logo Genes that share disorders with CIC: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CIC Gene

Publications for CIC Gene

  1. CIC, a gene involved in cerebellar development and ErbB signaling, is significantly expressed in medulloblastomas. (PMID: 15981098) Lee C.-J. … Scotting P.J. (J. Neurooncol. 2005) 2 3 4 65
  2. CIC, a member of a novel subfamily of the HMG-box superfamily, is transiently expressed in developing granule neurons. (PMID: 12393275) Lee C.-J. … Scotting P.J. (Brain Res. Mol. Brain Res. 2002) 2 3 4 65
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 65
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 65
  5. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J. … Lucas S.M. (Nature 2004) 3 4 65

Products for CIC Gene

Sources for CIC Gene

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