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    Cfap206 cilia and flagella associated protein 206 [ Mus musculus (house mouse) ]

    Gene ID: 69329, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Cfap206provided by MGI
    Official Full Name
    cilia and flagella associated protein 206provided by MGI
    Primary source
    MGI:MGI:1916579
    See related
    Ensembl:ENSMUSG00000028294 AllianceGenome:MGI:1916579
    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
    1700003M02Rik
    Summary
    Involved in regulation of cilium beat frequency; regulation of flagellated sperm motility; and sperm axoneme assembly. Located in axoneme and ciliary basal body. Is expressed in several structures, including brain; nasal cavity; pharynx; reproductive system; and respiratory system. Orthologous to human CFAP206 (cilia and flagella associated protein 206). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis adult (RPKM 129.5) See more
    Orthologs
    human all
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    Genomic context

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    See Cfap206 in Genome Data Viewer
    Location:
    4 A5; 4 16.86 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (34688574..34730263, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (34688574..34730263, complement)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene origin recognition complex, subunit 3 Neighboring gene arginyl-tRNA synthetase 2, mitochondrial Neighboring gene solute carrier family 35 (CMP-sialic acid transporter), member 1 Neighboring gene STARR-positive B cell enhancer ABC_E6160 Neighboring gene STARR-seq mESC enhancer starr_09914 Neighboring gene STARR-seq mESC enhancer starr_09915 Neighboring gene predicted gene 136 Neighboring gene STARR-seq mESC enhancer starr_09916 Neighboring gene STARR-seq mESC enhancer starr_09917 Neighboring gene small integral membrane protein 8

    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. Bi-allelic truncating variants in CFAP206 cause male infertility in human and mouse. Shen Q, et al. Hum Genet, 2021 Sep. PMID 34255152
    2. The FOXJ1 target Cfap206 is required for sperm motility, mucociliary clearance of the airways and brain development. Beckers A, et al. Development, 2020 Jun 15. PMID 32376681
    3. Tissue expression patterns identify mouse cilia genes. McClintock TS, et al. Physiol Genomics, 2008 Jan 17. PMID 17971504
    4. Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Ko MS, et al. Development, 2000 Apr. PMID 10725249
    5. Genome-wide expression profiling of mid-gestation placenta and embryo using a 15,000 mouse developmental cDNA microarray. Tanaka TS, et al. Proc Natl Acad Sci U S A, 2000 Aug 1. PMID 10922068, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Bi-allelic truncating variants in CFAP206 cause male infertility in human and mouse.
      Title: Bi-allelic truncating variants in CFAP206 cause male infertility in human and mouse.
    2. The FOXJ1 target Cfap206 is required for sperm motility, mucociliary clearance of the airways and brain development.
      Title: The FOXJ1 target Cfap206 is required for sperm motility, mucociliary clearance of the airways and brain development.
    3. 1700003M02Rik is most abundantly expressed in tissues rich in highly ciliated cells, such as olfactory sensory neurons and testis, and is predicted to be important to cilia.
      Title: Tissue expression patterns identify mouse cilia genes.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in axoneme assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cilium movement ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of cilium beat frequency IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of cilium beat frequency IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of flagellated sperm motility IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of flagellated sperm motility IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in sperm axoneme assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sperm axoneme assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    colocalizes_with A axonemal microtubule ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in axoneme IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in axoneme IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in motile cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of radial spoke ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    cilia- and flagella-associated protein 206
    Names
    UPF0704 protein C6orf165 homolog

    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_001347062.1 → NP_001333991.1  cilia- and flagella-associated protein 206 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL928738
      Consensus CDS
      CCDS84713.1
      UniProtKB/Swiss-Prot
      A2AT45, A2AT46, A2AT47, Q6PE87, Q9DAP6
      Related
      ENSMUSP00000029971.6, ENSMUST00000029971.12
      Conserved Domains (1) summary
      pfam12018
      Location:217 → 490
      FAP206; Domain of unknown function

    2. NM_027041.4 → NP_081317.4  cilia- and flagella-associated protein 206 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AL928738, BY234500
      Consensus CDS
      CCDS18031.2
      UniProtKB/Swiss-Prot
      Q6PE87
      Related
      ENSMUSP00000103771.2, ENSMUST00000108136.8
      Conserved Domains (1) summary
      pfam12018
      Location:217 → 490
      DUF3508; Domain of unknown function (DUF3508)

    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
      34688574..34730263 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006538232.4 → XP_006538295.1  cilia- and flagella-associated protein 206 isoform X1

      See identical proteins and their annotated locations for XP_006538295.1

      UniProtKB/Swiss-Prot
      A2AT45, A2AT46, A2AT47, Q6PE87, Q9DAP6
      Conserved Domains (1) summary
      pfam12018
      Location:217 → 490
      FAP206; Domain of unknown function

    2. XM_006538233.4 → XP_006538296.1  cilia- and flagella-associated protein 206 isoform X1

      See identical proteins and their annotated locations for XP_006538296.1

      UniProtKB/Swiss-Prot
      A2AT45, A2AT46, A2AT47, Q6PE87, Q9DAP6
      Conserved Domains (1) summary
      pfam12018
      Location:217 → 490
      FAP206; Domain of unknown function
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6PE87.2 GenPept UniProtKB/Swiss-Prot:Q6PE87

    Gene LinkOut

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

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