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

Gene ID: 69329, updated on 5-Mar-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, Apr 2022]
Expression
Restricted expression toward testis adult (RPKM 129.5) See more
Orthologs
human all
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Genomic context

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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 (16) 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
acts_upstream_of_or_within cell projection organization IEA
Inferred from Electronic Annotation
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
is_active_in axoneme IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in axoneme IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
  
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 cilium IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in cytoskeleton IEA
Inferred from Electronic Annotation
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

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