CIC - capicua transcriptional repressor Gene

Also Known as MRD45

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23152

About CIC

Cytogenetic location: 19q13.2 Genomic coordinates (GRCh38): 19:42,268,530-42,295,796 (from NCBI)

This gene has 10 transcripts (splice variants), 240 orthologues, 1 paralogue and is associated with 122 phenotypes. Ubiquitous expression in testis (RPKM 16.0), endometrium (RPKM 12.0) and 25 other tissues.

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]

CIC Products (7)

mRNA Protein Name
NM_001304815.2 NP_001291744.1 protein capicua homolog isoform CIC-L
NM_001379480.1 NP_001366409.1 protein capicua homolog isoform 3
NM_001379482.1 NP_001366411.1 protein capicua homolog isoform 4
NM_001379484.1 NP_001366413.1 protein capicua homolog isoform 5
NM_001379485.1 NP_001366414.1 protein capicua homolog isoform 6
NM_001386298.1 NP_001373227.1 protein capicua homolog isoform CIC-L
NM_015125.5 NP_055940.3 protein capicua homolog isoform CIC-S

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
16713569 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CIC Protein Structure

HMG_box

HMG_box: HMG (high mobility group) box (200 - 268)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1608 a.a.
Protein Preferred Names Protein Names

protein capicua homolog

CIC Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
CIC Q96RK0 GOLGA2 Homo sapiens Q08379
Y2H Prey Pooling
32296183
Intra
CIC Q96RK0 GOLGA2 Homo sapiens Q08379
Y2H Array
32296183
Intra
CIC Q96RK0 ATXN1 Homo sapiens P54253
GMS
18337722
Intra
CIC Q96RK0 ATXN1 Homo sapiens P54253
Y2H
16713569
Intra
CIC Q96RK0 CENPJ Homo sapiens Q9HC77
Pull Down
16713569
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Intellectual Developmental Disorder, Autosomal Dominant 45

  • MRD45

  • Mental Retardation, Autosomal Dominant 45

  • Autosomal Dominant Intellectual Developmental Disorder 45

  • Autosomal Dominant Mental Retardation 45

  • Mental Retardation, Autosomal Dominant, Type 45
Autosomal Dominant Non-Syndromic Intellectual Disability
Oligodendroglioma

  • Oligodendroglial Neoplasm

  • Oligodendroglial Tumor

  • Oligodendroglial Tumors

  • Well Differentiated Oligodendroglioma
Anaplastic Oligodendroglioma
Nk-Cell Enteropathy
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities

  • MRD30

  • Mental Retardation, Autosomal Dominant 30

  • Intellectual Developmental Disorder, Autosomal Dominant 30

  • Autosomal Dominant Non-Syndromic Intellectual Disability 30

  • Autosomal Dominant Intellectual Developmental Disorder 30

  • Autosomal Dominant Mental Retardation 30

  • Mental Retardation, Autosomal Dominant, Type 30
Mitochondrial Pyruvate Carrier Deficiency

  • MPYCD
Coffin-Siris Syndrome 9

  • Mrd27

  • CSS9

  • Mental Retardation, Autosomal Dominant 27

  • Autosomal Dominant Mental Retardation 27

  • Autosomal Dominant Non-Syndromic Intellectual Disability 27

  • Coffin-Siris Syndrome, Type 9
Spinocerebellar Ataxia 1

  • Spinocerebellar Ataxia Type 1

  • SCA1

  • Olivopontocerebellar Atrophy I

  • Opca1

  • Opca4

  • Menzel Type Opca

  • Schut-Haymaker Type Opca

  • Spinocerebellar Atrophy I

  • Opca I

  • Olivopontocerebellar Atrophy Iv

  • Opca Iv

  • Cerebelloparenchymal Disorder I

  • Cpd1

  • Olivopontocerebellar Atrophy 1

  • Cerebelloparenchymal Disorder 1

  • Olivopontocerebellar Atrophy 4

  • Spinocerebellar Atrophy 1

  • Type 1 Spinocerebellar Ataxia

  • Spinocerebellar Ataxia-1

  • Ataxia, Spinocerebellar, Type 1
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Approval
  • Pre-clinical Phase

Approval

Bioactive Molecules (3)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-B0679 Lubiprostone 99.09% Yes
HY-15790 Elobixibat Inhibitor 99.91% Yes
HY-15790A Elobixibat hydrate Inhibitor 99.34% Unkown

Pre-clinical Phase

Bioactive Molecules (16)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-15888 PTC-209 99.76% Unkown
HY-111490 Desisobutyryl-ciclesonide Modulator 99.77% Unkown
HY-15888A PTC-209 hydrobromide 99.02% Unkown
HY-174866 BT-O2C Inhibitor 99.31% Unkown
HY-RS13089 SLC25A1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-16905 T338C Src-IN-1 Inhibitor / Unkown
HY-111490R Desisobutyryl-ciclesonide (Standard) Modulator / Unkown
HY-125551 L-687908 Inhibitor / Unkown
HY-164532 NS3736 Inhibitor / Unkown
HY-168423 4-CIC hydrochloride / Unkown
HY-RS02710 CIC Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-15790S Elobixibat-d5 Inhibitor / Unkown
HY-B0679S Lubiprostone-d7 / Unkown
HY-RS17676 Cic Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS24137 Cic Rat Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS25067 Slc25a1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris CIC VGNC VGNC:39270
Mus musculus CIC MGD MGI:1918972
Macaca mulatta CIC VGNC VGNC:109599
Felis catus CIC VGNC VGNC:60900
Rattus norvegicus CIC RGD RGD:1310706
Bos taurus CIC VGNC VGNC:27363
Others CIC NCBI