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    CFAP206 cilia and flagella associated protein 206 [ Homo sapiens (human) ]

    Gene ID: 154313, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CFAP206provided by HGNC
    Official Full Name
    cilia and flagella associated protein 206provided by HGNC
    Primary source
    HGNC:HGNC:21405
    See related
    Ensembl:ENSG00000272514 AllianceGenome:HGNC:21405
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C6orf165; dJ382I10.1
    Summary
    Predicted to be involved in regulation of cilium beat frequency; regulation of flagellated sperm motility; and sperm axoneme assembly. Predicted to be located in A axonemal microtubule and motile cilium. Predicted to be part of radial spoke. Predicted to be active in axoneme and ciliary basal body. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward testis (RPKM 41.8) See more
    Orthologs
    mouse all
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    Genomic context

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    See CFAP206 in Genome Data Viewer
    Location:
    6q15
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (87407972..87464465)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (88616818..88673229)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (88117690..88174183)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene chromosome 6 open reading frame 163 Neighboring gene long intergenic non-protein coding RNA 1590 Neighboring gene TATA-box binding protein associated factor 13 pseudogene 1 Neighboring gene adenosylmethionine decarboxylase 1 pseudogene Neighboring gene ST13, Hsp70 interacting protein pseudogene 16 Neighboring gene uncharacterized LOC124901357 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:88182339-88183245 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24795 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24796 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:88193750-88194949 Neighboring gene solute carrier family 35 member A1 Neighboring gene RNA, U6 small nuclear 444, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. The versatile molecular complex component LC8 promotes several distinct steps of flagellar assembly. Gupta A, et al. J Cell Biol, 2012 Jul 9. PMID 22753897, Free PMC Article
    2. Bi-allelic truncating variants in CFAP206 cause male infertility in human and mouse. Shen Q, et al. Hum Genet, 2021 Sep. PMID 34255152
    3. A genome-scale protein interaction profile of Drosophila p53 uncovers additional nodes of the human p53 network. Lunardi A, et al. Proc Natl Acad Sci U S A, 2010 Apr 6. PMID 20308539, Free PMC Article
    4. Widespread macromolecular interaction perturbations in human genetic disorders. Sahni N, et al. Cell, 2015 Apr 23. PMID 25910212, Free PMC Article
    5. The DNA sequence and analysis of human chromosome 6. Mungall AJ, et al. Nature, 2003 Oct 23. PMID 14574404

    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.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ25974, FLJ46091

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of flagellated sperm motility IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of flagellated sperm motility ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in sperm axoneme assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sperm axoneme assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ciliary basal body ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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

    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_001031743.3 → NP_001026913.1  cilia- and flagella-associated protein 206

      See identical proteins and their annotated locations for NP_001026913.1

      Status: VALIDATED

      Source sequence(s)
      AL049697
      Consensus CDS
      CCDS34498.1
      UniProtKB/Swiss-Prot
      A8K969, E1P507, Q8IYR0, Q8N9U4
      Related
      ENSP00000358575.4, ENST00000369562.9
      Conserved Domains (1) summary
      pfam12018
      Location:218 → 490
      DUF3508; Domain of unknown function (DUF3508)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      87407972..87464465
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      88616818..88673229
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_178823.2: Suppressed sequence

      Description
      NM_178823.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IYR0.2 GenPept UniProtKB/Swiss-Prot:Q8IYR0

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
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