Cc2d1a - coiled-coil and C2 domain containing 1A Gene

Also Known as Tape; Freud-1

Species: Mus musculus

Gene Type: protein coding

Gene ID: 212139

Summary

Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Acts upstream of or within negative regulation of transcription by RNA polymerase II. Predicted to be located in cytosol; fibrillar center; and plasma membrane. Predicted to be active in nucleus. Is expressed in brain. Human ortholog(s) of this gene implicated in autosomal recessive non-syndromic intellectual disability and intellectual disability. Orthologous to human CC2D1A (coiled-coil and C2 domain containing 1A). [provided by Alliance of Genome Resources, Apr 2022]

Cc2d1a Products (4)

mRNA	Protein	Name
NM_001381871.1	NP_001368800.1	coiled-coil and C2 domain-containing protein 1A isoform 2
NM_001381872.1	NP_001368801.1	coiled-coil and C2 domain-containing protein 1A isoform 3
NM_001381873.1	NP_001368802.1	coiled-coil and C2 domain-containing protein 1A isoform 4
NM_145970.2	NP_666082.2	coiled-coil and C2 domain-containing protein 1A isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	21155902	MGI
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	21155902	MGI
enables protein binding	IPI IPI: Inferred from physical interaction	26720614	MGI

Biological Process GO Annotation	Evidence	Verweise	Source
acts upstream of or within apical dendrite arborization	IMP IMP: Inferred from mutant phenotype	26826102	MGI
NOT acts upstream of or within centrosome cycle	IDA IDA: Inferred from direct assay	26720614	MGI
acts upstream of or within dendrite arborization	IMP IMP: Inferred from mutant phenotype	26826102	MGI
acts upstream of or within endosome organization	IMP IMP: Inferred from mutant phenotype	26720614	MGI
acts upstream of or within negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	21155902	MGI
NOT acts upstream of or within regulation of Notch signaling pathway	IMP IMP: Inferred from mutant phenotype	26720614	MGI
involved in regulation of postsynapse assembly	IDA IDA: Inferred from direct assay	26826102	MGI
involved in regulation of postsynapse assembly	IMP IMP: Inferred from mutant phenotype	26826102	MGI
acts upstream of or within regulation of respiratory gaseous exchange	IMP IMP: Inferred from mutant phenotype	26826102	MGI
acts upstream of or within regulation of respiratory gaseous exchange by nervous system process	IMP IMP: Inferred from mutant phenotype	26720614	MGI

Cellular Component GO Annotation	Evidence	Verweise	Source
NOT located in centrosome	IDA IDA: Inferred from direct assay	26720614	MGI
located in cytosol	IDA IDA: Inferred from direct assay	26720614	MGI
located in endosome membrane	IDA IDA: Inferred from direct assay	26720614	MGI
is active in glutamatergic synapse	IDA IDA: Inferred from direct assay	26826102	MGI
is active in glutamatergic synapse	IMP IMP: Inferred from mutant phenotype	26826102	MGI
is active in synapse	IDA IDA: Inferred from direct assay	30992372	MGI
is active in synapse	IEP IEP: Inferred from expression pattern	30992372	MGI
is active in synapse	IMP IMP: Inferred from mutant phenotype	30992372	MGI

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

Protein Preferred Names	Protein Names
coiled-coil and C2 domain-containing protein 1A	5-HT1A receptor FRE under dual repression-binding protein 1 five prime repressor element under dual repression-binding protein 1 five' repressor element under dual repression binding protein 1 putative NFkB activating protein

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS02018	CC2D1A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21101	Cc2d1a Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27620	Cc2d1a Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Cc2d1a	NCBI	NCBI:54862