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

Gene ID: 154313, updated on 7-Apr-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 motile cilium. Predicted to be part of radial spoke. Predicted to be active in axoneme and ciliary basal body. Predicted to colocalize with A axonemal microtubule. [provided by Alliance of Genome Resources, Apr 2022]
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_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (87407972..87464465)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (88616818..88673229)
105.20220307 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

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

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 (15) 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)

Genotypes

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_2023_10

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.

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