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Cc2d1b coiled-coil and C2 domain containing 1B [ Mus musculus (house mouse) ]

Gene ID: 319965, updated on 27-Nov-2024

Summary

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Official Symbol
Cc2d1bprovided by MGI
Official Full Name
coiled-coil and C2 domain containing 1Bprovided by MGI
Primary source
MGI:MGI:2443076
See related
Ensembl:ENSMUSG00000028582 AllianceGenome:MGI:2443076
Gene type
protein coding
RefSeq status
PROVISIONAL
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Freud2; A830039B04Rik
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. Located in cytosol and endosome membrane. Is expressed in facial ganglion; glossopharyngeal ganglion; trigeminal ganglion; and vagus ganglion. Orthologous to human CC2D1B (coiled-coil and C2 domain containing 1B). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in thymus adult (RPKM 12.4), placenta adult (RPKM 10.8) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Cc2d1b in Genome Data Viewer
Location:
4 C7; 4 50.64 cM
Exon count:
26
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (108477105..108495801)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (108619940..108638604)

Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E1036 Neighboring gene PRP38 pre-mRNA processing factor 38 (yeast) domain containing A Neighboring gene origin recognition complex, subunit 1 Neighboring gene predicted gene 12743 Neighboring gene zinc finger, FYVE domain containing 9 Neighboring gene ribosomal protein L9 pseudogene Neighboring gene predicted gene, 53266

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Cc2d1b Contributes to the Regulation of Developmental Myelination in the Central Nervous System. Acheta J, et al. Front Mol Neurosci, 2022. PMID 35592111, Free PMC Article
  2. Male-Specific cAMP Signaling in the Hippocampus Controls Spatial Memory Deficits in a Mouse Model of Autism and Intellectual Disability. Zamarbide M, et al. Biol Psychiatry, 2019 May 1. PMID 30732858, Free PMC Article
  3. Loss of the Intellectual Disability and Autism Gene Cc2d1a and Its Homolog Cc2d1b Differentially Affect Spatial Memory, Anxiety, and Hyperactivity. Zamarbide M, et al. Front Genet, 2018. PMID 29552027, Free PMC Article
  4. Freud-2/CC2D1B mediates dual repression of the serotonin-1A receptor gene. Hadjighassem MR, et al. Eur J Neurosci, 2011 Jan. PMID 21155902, Free PMC Article
  5. The Mammalian Orthologs of Drosophila Lgd, CC2D1A and CC2D1B, Function in the Endocytic Pathway, but Their Individual Loss of Function Does Not Affect Notch Signalling. Drusenheimer N, et al. PLoS Genet, 2015 Dec. PMID 26720614, Free PMC Article

See all (34) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CC2D1A and CC2D1B role and function in the endocytic pathway and Notch signalling.
    Title: The Mammalian Orthologs of Drosophila Lgd, CC2D1A and CC2D1B, Function in the Endocytic Pathway, but Their Individual Loss of Function Does Not Affect Notch Signalling.
  2. data show that Freud-2 is the second component that, with Freud-1, mediates dual repression of the 5-HT1A receptor gene at the dual repressor element.
    Title: Freud-2/CC2D1B mediates dual repression of the serotonin-1A receptor gene.
  3. Paper describes a function of Cc2d1b/Cc2d1a and its Drosophila homologue l(2)gd in D.melanogaster in Notch trafficking.
    Title: The Drosophila Notch inhibitor and tumor suppressor gene lethal (2) giant discs encodes a conserved regulator of endosomal trafficking.
Submit: New GeneRIF Correction

Variation

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Alleles

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
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 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 
Process Evidence Code Pubs
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 transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endosome membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in intracellular membrane-bounded organelle ISO
Inferred from Sequence Orthology
more info
  
located_in nucleoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
coiled-coil and C2 domain-containing protein 1B
Names
FRE under dual repression-binding protein 2
five prime repressor element under dual repression-binding protein 2
freud-2

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)

  1. NM_177045.3 → NP_796019.1  coiled-coil and C2 domain-containing protein 1B

    See identical proteins and their annotated locations for NP_796019.1

    Status: PROVISIONAL

    Source sequence(s)
    AK043839
    Consensus CDS
    CCDS18454.1
    UniProtKB/Swiss-Prot
    B2RQ40, Q3UJ60, Q69Z95, Q8BRN9
    UniProtKB/TrEMBL
    Q7TPN1
    Related
    ENSMUSP00000030320.7, ENSMUST00000030320.13
    Conserved Domains (2) summary
    smart00685
    Location:527 → 584
    DM14; Repeats in fly CG4713, worm Y37H9A.3 and human FLJ20241
    cd08690
    Location:686 → 843
    C2_Freud-1; C2 domain found in 5' repressor element under dual repression binding protein-1 (Freud-1)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000070.7 Reference GRCm39 C57BL/6J

    Range
    108477105..108495801
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006503153.3 → XP_006503216.1  coiled-coil and C2 domain-containing protein 1B isoform X1

    Conserved Domains (1) summary
    smart00685
    Location:278 → 335
    DM14; Repeats in fly CG4713, worm Y37H9A.3 and human FLJ20241

RNA

  1. XR_004941922.1 RNA Sequence

  2. XR_376326.3 RNA Sequence

  3. XR_004941923.1 RNA Sequence

  4. XR_376327.3 RNA Sequence

  5. XR_376325.4 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8BRN9.1 GenPept UniProtKB/Swiss-Prot:Q8BRN9

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
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