CIC - capicua transcriptional repressor Gene

Homo sapiens

Also known as MRD45

Gene ID: 23152 | Gene type: protein coding

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

CIC Protein Structure

HMG_box

0
300
600
900
1200
1500
1608 a.a.

Protein Preferred Names

Protein Names

protein capicua homolog

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-15790A	Elobixibat hydrate		/	Unkown

Pre-clinical Phase

Bioactive Molecules (6)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-15888	PTC-209	Inducer	99.85%	Unkown
HY-111490	Desisobutyryl-ciclesonide	Modulator	99.53%	Unkown
HY-16905	T338C Src-IN-1		/	Unkown
HY-15888A	PTC-209 hydrobromide	Activator	99.44%	Unkown
HY-111490R	Desisobutyryl-ciclesonide (Standard)	Modulator	/	Unkown
HY-RS02710	CIC Human Pre-designed siRNA Set A		/	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
Macaca fascicularis	CIC	NCBI
Others	CIC	NCBI

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