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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
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