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

Gene ID: 320234, updated on 28-Oct-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, Oct 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

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