Tbio CIC Protein capicua homolog

Protein Summary

Description

Transcriptional repressor which plays a role in development of the central nervous system (CNS). In concert with ATXN1 and ATXN1L, involved in brain development. 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]

Uniprot Accession IDs

• Q96RK0
• Q7LGI1
• Q9UEG5
• Q9Y6T1

Gene Name

• CIC

Ensembl ID

• ENST00000575354
• ENSP00000458663
• ENSG00000079432

Symbol

• KIAA0306
• MRD45

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
kinase	0.84
ligand (protein) perturbation	0.83
transcription factor	0.83
transcription factor binding site profile	0.81
small molecule perturbation	0.71

Related Tools

Target Illumination GWAS Analytics (TIGA)

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GENEVA

GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.

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GlyGen

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IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 95.19   (req: < 5)

Gene RIFs: 36   (req: <= 3)

Antibodies: 216   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 95.19   (req: >= 5)

Gene RIFs: 36   (req: > 3)

Antibodies: 216   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 10

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

GWAS Traits (12)

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GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
monocyte count	EFO_0005091	2	1	2		78.4
eosinophil count	EFO_0004842	2	1	2		64
Hodgkins lymphoma	EFO_0000183	1	1	1		53.7
balding measurement	EFO_0007825	1	1	1		45.7
mean corpuscular hemoglobin concentration	EFO_0004528	1	1	1		39.6

• Explore on Target Illumination GWAS Analytics (TIGA)

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GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
monocyte count	EFO_0005091	2		78.4
eosinophil count	EFO_0004842	2		64
Hodgkins lymphoma	EFO_0000183	1		53.7
balding measurement	EFO_0007825	1		45.7
mean corpuscular hemoglobin concentration	EFO_0004528	1		39.6

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Orthologs (7)

1 – 5 of 7

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	capicua transcriptional repressor	VGNC:6618	456073
Mouse	capicua transcriptional repressor	MGI:1918972	71722
Rat	capicua transcriptional repressor	RGD:1310706	308435
Dog	capicua transcriptional repressor	VGNC:39270	484475
Horse	capicua transcriptional repressor	VGNC:51016	100069673

Species	Name	OMA	EggNOG	Inparanoid
Chimp	capicua transcriptional repressor
Mouse	capicua transcriptional repressor
Rat	capicua transcriptional repressor
Dog	capicua transcriptional repressor
Horse	capicua transcriptional repressor

Protein Structure (3 Structures, 1 AlphaFold Model)

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Representation

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Color Scheme

  target   atomindex   bfactor   chainname   electrostatic   element   hydrophobicity   resname   sstruc

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More information can be found at RCSB PDB

AF-Q96RK0-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 3 of 3

PDB Structure Id	Ligand	Method	Resolution (Å)	Residues	Fraction of Total Protein	Pub Year	Title

PDB Structure Id	Fraction of Total Protein	Resolution	Pub Year

Gene Ontology Terms (14)

Functions (3)

Components (4)

Processes (7)

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GO Term	Evidence	Assigned by
DNA-binding transcription factor activity, RNA polymerase II-specific	Inferred from Sequence Alignment (ISA)	NTNU_SB
chromatin binding	Inferred from Electronic Annotation (IEA)	Ensembl
DNA binding	Inferred from Electronic Annotation (IEA)	UniProtKB-KW

Protein-Protein Interactions (42)

Explore Interacting Targets

1 – 10 of 42

• See Interactions on String-DB

ATXN1

Tbio

Novelty:  0.00419081

p_int:  0.999999991

p_ni:  8e-9

p_wrong:  1e-9

Score:  0.973

Data Source:  BioPlex,STRINGDB

ZBTB18

Tbio

Family:  TF

Novelty:  0.03802355

p_int:  0.999999811

p_ni:  1.5e-8

p_wrong:  1.74e-7

Score:  0.288

Data Source:  BioPlex,STRINGDB

ATXN1L

Tbio

Novelty:  0.1105313

Score:  0.945

Data Source:  STRINGDB

RBM17

Tbio

Novelty:  0.04840999

Score:  0.858

Data Source:  STRINGDB

PRRC2A

Tbio

Novelty:  0.01493149

Score:  0.657

Data Source:  STRINGDB

ATP5PF

Tbio

Family:  Enzyme

Novelty:  0.00585408

Score:  0.617

Data Source:  STRINGDB

PGLS

Tbio

Family:  Enzyme

Novelty:  0.03252394

Score:  0.565

Data Source:  STRINGDB

UBQLN4

Tbio

Novelty:  0.0428679

Score:  0.549

Data Source:  STRINGDB

FUBP1

Tbio

Novelty:  0.01745195

Score:  0.542

Data Source:  STRINGDB

APBA3

Tbio

Novelty:  0.05059532

Score:  0.534

Data Source:  STRINGDB

Publication Statistics

PubMed Score  95.19

PubMed score by year

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PubTator Score  67.82

PubTator score by year

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Amino Acid Sequence

Residue Counts

Protein Sequence

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UniProt Keyword Find Similar Targets

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3D-structure
Acetylation
Complete proteome
Disease mutation
DNA-binding
Mental retardation
Methylation
Nucleus
Phosphoprotein
Polymorphism

GWAS Trait Find Similar Targets

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balding measurement
chronotype measurement
diet measurement
eosinophil count
Hodgkins lymphoma
leukocyte count
mean corpuscular hemoglobin concentration
monocyte count
myeloid white cell count
neutrophil count

MGI Phenotype Find Similar Targets

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behavior/neurological phenotype
growth/size/body region phenotype
mortality/aging
nervous system phenotype
respiratory system phenotype