Cc2d1a coiled-coil and C2 domain containing 1A [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cc2d1aprovided by MGI
Official Full Name: coiled-coil and C2 domain containing 1Aprovided by MGI
Primary source: MGI:MGI:2384831
See related: Ensembl:ENSMUSG00000036686 AllianceGenome:MGI:2384831
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Tape; Freud-1
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]
Expression: Ubiquitous expression in colon adult (RPKM 20.2), CNS E18 (RPKM 19.8) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 C2; 8 40.32 cM

Exon count:: 29

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (84859457..84874546, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (84132828..84147917, complement)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Heterozygous Cc2d1a mice show sex-dependent changes in the Beclin-1/p62 ratio with impaired prefrontal cortex and hippocampal autophagy.
Title: Heterozygous Cc2d1a mice show sex-dependent changes in the Beclin-1/p62 ratio with impaired prefrontal cortex and hippocampal autophagy.
High-Fat Diet Exacerbates Autistic-Like Restricted Repetitive Behaviors and Social Abnormalities in CC2D1A Conditional Knockout Mice.
Title: High-Fat Diet Exacerbates Autistic-Like Restricted Repetitive Behaviors and Social Abnormalities in CC2D1A Conditional Knockout Mice.
Partial changes in apoptotic pathways in hippocampus and hypothalamus of Cc2d1a heterozygous.
Title: Partial changes in apoptotic pathways in hippocampus and hypothalamus of Cc2d1a heterozygous.
Effects of the Cc2d1a/Freud-1 Knockdown in the Hippocampus of BTBR Mice on the Autistic-Like Behavior, Expression of Serotonin 5-HT1A and D2 Dopamine Receptors, and CREB and NF-kB Intracellular Signaling.
Title: Effects of the Cc2d1a/Freud-1 Knockdown in the Hippocampus of BTBR Mice on the Autistic-Like Behavior, Expression of Serotonin 5-HT(1A) and D2 Dopamine Receptors, and CREB and NF-kB Intracellular Signaling.
Loss of CC2D1A in Glutamatergic Neurons Results in Autistic-Like Features in Mice.
Title: Loss of CC2D1A in Glutamatergic Neurons Results in Autistic-Like Features in Mice.
Effects of a Cc2d1a/Freud-1 Knockdown in the Hippocampus on Behavior, the Serotonin System, and BDNF.
Title: Effects of a Cc2d1a/Freud-1 Knockdown in the Hippocampus on Behavior, the Serotonin System, and BDNF.
Disregulation of Autophagy in the Transgenerational Cc2d1a Mouse Model of Autism.
Title: Disregulation of Autophagy in the Transgenerational Cc2d1a Mouse Model of Autism.
Our findings establish a critical link between elevated Rac1 activity, structural and synaptic plasticity alterations, and cognitive impairment caused by Cc2d1a deletion.
Title: Conditional Deletion of CC2D1A Reduces Hippocampal Synaptic Plasticity and Impairs Cognitive Function through Rac1 Hyperactivation.
Findings show that CC2D1A regulates cAMP intracellular signaling in a male-specific manner in the hippocampus, leading to male-specific cognitive deficits.
Title: Male-Specific cAMP Signaling in the Hippocampus Controls Spatial Memory Deficits in a Mouse Model of Autism and Intellectual Disability.
Cc2d1a conditional knockout mice therefore recapitulate features of both cognitive and social impairment caused by human CC2D1A mutation
Title: Cc2d1a Loss of Function Disrupts Functional and Morphological Development in Forebrain Neurons Leading to Cognitive and Social Deficits.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (6) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within apical dendrite arborization	IMP Inferred from Mutant Phenotype more info	PubMed
NOT acts_upstream_of_or_within centrosome cycle	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within dendrite arborization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within endosome organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of snRNA transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
NOT acts_upstream_of_or_within regulation of Notch signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of postsynapse assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of postsynapse assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of respiratory gaseous exchange	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of respiratory gaseous exchange by nervous system process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
NOT located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in endosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in fibrillar center	ISO Inferred from Sequence Orthology more info
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in synapse	IEP Inferred from Expression Pattern more info	PubMed
is_active_in synapse	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: coiled-coil and C2 domain-containing protein 1A

Names: 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

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001381871.1 → NP_001368800.1 coiled-coil and C2 domain-containing protein 1A isoform 2

Status: VALIDATED

Source sequence(s)

AC159266

UniProtKB/TrEMBL

E9PX94

Related

ENSMUSP00000112556.3, ENSMUST00000117424.9

Conserved Domains (3) summary

smart00685
Location:342 → 400

DM14; Repeats in fly CG4713, worm Y37H9A.3 and human FLJ20241

cd08690
Location:644 → 801

C2_Freud-1; C2 domain found in 5' repressor element under dual repression binding protein-1 (Freud-1)

PHA03247
Location:191 → 481

PHA03247; large tegument protein UL36; Provisional
NM_001381872.1 → NP_001368801.1 coiled-coil and C2 domain-containing protein 1A isoform 3

Status: VALIDATED

Source sequence(s)

AC159266

UniProtKB/TrEMBL

E9PX94

Conserved Domains (3) summary

smart00685
Location:273 → 331

DM14; Repeats in fly CG4713, worm Y37H9A.3 and human FLJ20241

cd08690
Location:576 → 733

C2_Freud-1; C2 domain found in 5' repressor element under dual repression binding protein-1 (Freud-1)

pfam05109
Location:105 → 411

Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
NM_001381873.1 → NP_001368802.1 coiled-coil and C2 domain-containing protein 1A isoform 4

Status: VALIDATED

Source sequence(s)

AC159266

UniProtKB/TrEMBL

E9PX94

Conserved Domains (3) summary

smart00685
Location:310 → 368

DM14; Repeats in fly CG4713, worm Y37H9A.3 and human FLJ20241

cd08690
Location:613 → 770

C2_Freud-1; C2 domain found in 5' repressor element under dual repression binding protein-1 (Freud-1)

pfam05109
Location:142 → 448

Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
NM_145970.2 → NP_666082.2 coiled-coil and C2 domain-containing protein 1A isoform 1

See identical proteins and their annotated locations for NP_666082.2

Status: VALIDATED

Source sequence(s)

AC159266

Consensus CDS

CCDS40407.1

UniProtKB/Swiss-Prot

Q2MJB5, Q8K1A6, Q8R3Z4

UniProtKB/TrEMBL

E9PX94

Related

ENSMUSP00000046449.9, ENSMUST00000040383.9

Conserved Domains (3) summary

smart00685
Location:342 → 400

DM14; Repeats in fly CG4713, worm Y37H9A.3 and human FLJ20241

cd08690
Location:645 → 802

C2_Freud-1; C2 domain found in 5' repressor element under dual repression binding protein-1 (Freud-1)

pfam07404
Location:442 → 496

TEBP_beta; Telomere-binding protein beta subunit (TEBP beta)