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    Ccdc66 coiled-coil domain containing 66 [ Mus musculus (house mouse) ]

    Gene ID: 320234, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Ccdc66provided by MGI
    Official Full Name
    coiled-coil domain containing 66provided by MGI
    Primary source
    MGI:MGI:2443639
    See related
    Ensembl:ENSMUSG00000046753 AllianceGenome:MGI:2443639
    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
    E230015L20Rik
    Summary
    Enables protein homodimerization activity. Involved in detection of light stimulus involved in visual perception. Located in photoreceptor inner segment. Is expressed in several structures, including cerebral cortex ventricular layer; ganglia; nucleus pulposus; spinal cord; and vibrissa. Used to study retinitis pigmentosa. Orthologous to human CCDC66 (coiled-coil domain containing 66). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in CNS E11.5 (RPKM 6.9), bladder adult (RPKM 6.7) and 21 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Ccdc66 in Genome Data Viewer
    Location:
    14 A3; 14 16.51 cM
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (27203047..27230467, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (27481090..27508510, complement)

    Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene Rho guanine nucleotide exchange factor 3 Neighboring gene STARR-seq mESC enhancer starr_36271 Neighboring gene STARR-positive B cell enhancer ABC_E1891 Neighboring gene predicted gene, 52096 Neighboring gene predicted gene, 34702 Neighboring gene STARR-seq mESC enhancer starr_36272 Neighboring gene STARR-seq mESC enhancer starr_36273 Neighboring gene transcription activation suppressor Neighboring gene STARR-positive B cell enhancer ABC_E8897 Neighboring gene STARR-seq mESC enhancer starr_36274 Neighboring gene STARR-seq mESC enhancer starr_36275 Neighboring gene predicted gene, 25697 Neighboring gene predicted gene 7604

    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 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. Neurodegeneration in the olfactory bulb and olfactory deficits in the Ccdc66 -/- mouse model for retinal degeneration. Schreiber S, et al. IBRO Rep, 2018 Dec. PMID 30211337, Free PMC Article
    2. CCDC66 mutations are associated with high myopia through affected cell mitosis. Chen X, et al. J Med Genet, 2024 Feb 21. PMID 37852749
    3. Ccdc66 null mutation causes retinal degeneration and dysfunction. Gerding WM, et al. Hum Mol Genet, 2011 Sep 15. PMID 21680557
    4. Progressive retinal atrophy in Schapendoes dogs: mutation of the newly identified CCDC66 gene. Dekomien G, et al. Neurogenetics, 2010 May. PMID 19777273
    5. Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss. Collin GB, et al. Cells, 2020 Apr 10. PMID 32290105, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CCDC66 mutations are associated with high myopia through affected cell mitosis.
      Title: CCDC66 mutations are associated with high myopia through affected cell mitosis.
    2. Lack of protein CCDC66 causes early, slow progressive generalized progressive retinal atrophy in the Ccdc66 mutant mouse model.
      Title: Ccdc66 null mutation causes retinal degeneration and dysfunction.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Gene trapped (1) 

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables microtubule binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables microtubule binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cilium assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in detection of light stimulus involved in visual perception IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in microtubule bundle formation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in microtubule bundle formation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of protein localization to cilium ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of protein localization to cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in retina homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in Flemming body IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in Flemming body ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cell junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cell junction ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in centriolar satellite ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in centriolar satellite ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in centrosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in ciliary basal body ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in ciliary basal body ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cilium ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in microtubule ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in microtubule ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in photoreceptor inner segment IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in photoreceptor inner segment IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in photoreceptor inner segment ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in photoreceptor outer segment IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 66

    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_177111.3 → NP_796085.3  coiled-coil domain-containing protein 66

      See identical proteins and their annotated locations for NP_796085.3

      Status: VALIDATED

      Source sequence(s)
      BC070471
      Consensus CDS
      CCDS36843.1
      UniProtKB/Swiss-Prot
      Q3ULU6, Q6NS45, Q8C304, Q8C6T6
      Related
      ENSMUSP00000153023.2, ENSMUST00000223689.2
      Conserved Domains (1) summary
      pfam15236
      Location:407 → 559
      CCDC66; Coiled-coil domain-containing protein 66

    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_000080.7 Reference GRCm39 C57BL/6J

      Range
      27203047..27230467 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006519127.4 → XP_006519190.1  coiled-coil domain-containing protein 66 isoform X1

      UniProtKB/Swiss-Prot
      Q6NS45
      Conserved Domains (2) summary
      PTZ00121
      Location:189 → 574
      PTZ00121; MAEBL; Provisional
      pfam15236
      Location:375 → 526
      CCDC66; Coiled-coil domain-containing protein 66

    2. XM_030247861.2 → XP_030103721.1  coiled-coil domain-containing protein 66 isoform X5

      Conserved Domains (1) summary
      pfam15236
      Location:60 → 211
      CCDC66; Coiled-coil domain-containing protein 66

    3. XM_006519131.4 → XP_006519194.1  coiled-coil domain-containing protein 66 isoform X3

      UniProtKB/Swiss-Prot
      Q6NS45
      Related
      ENSMUSP00000052546.8, ENSMUST00000050480.8
      Conserved Domains (2) summary
      PTZ00121
      Location:66 → 451
      PTZ00121; MAEBL; Provisional
      pfam15236
      Location:252 → 403
      CCDC66; Coiled-coil domain-containing protein 66

    4. XM_036158670.1 → XP_036014563.1  coiled-coil domain-containing protein 66 isoform X2

      Conserved Domains (2) summary
      PTZ00121
      Location:188 → 573
      PTZ00121; MAEBL; Provisional
      pfam15236
      Location:374 → 525
      CCDC66; Coiled-coil domain-containing protein 66

    5. XM_011245087.2 → XP_011243389.1  coiled-coil domain-containing protein 66 isoform X4

      Conserved Domains (2) summary
      PTZ00121
      Location:222 → 590
      PTZ00121; MAEBL; Provisional
      pfam15236
      Location:408 → 559
      CCDC66; Coiled-coil domain-containing protein 66
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6NS45.3 GenPept UniProtKB/Swiss-Prot:Q6NS45

    Gene LinkOut

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

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