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Aliases for CFAP206 Gene

Aliases for CFAP206 Gene

  • Cilia And Flagella Associated Protein 206 2 3 5
  • C6orf165 3 4
  • Cilia- And Flagella-Associated Protein 206 3
  • Chromosome 6 Open Reading Frame 165 2
  • UPF0704 Protein C6orf165 3
  • DJ382I10.1 3

External Ids for CFAP206 Gene

Previous HGNC Symbols for CFAP206 Gene

  • C6orf165

Summaries for CFAP206 Gene

GeneCards Summary for CFAP206 Gene

CFAP206 (Cilia And Flagella Associated Protein 206) is a Protein Coding gene. An important paralog of this gene is ENSG00000213204.

UniProtKB/Swiss-Prot for CFAP206 Gene

  • May regulate cilium motility through its role in the assembly of the axonemal radial spokes.

Additional gene information for CFAP206 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CFAP206 Gene

Genomics for CFAP206 Gene

GeneHancer (GH) Regulatory Elements for CFAP206 Gene

Promoters and enhancers for CFAP206 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I087407 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.3 264 2.1 ATF1 ARID4B SIN3A ZNF2 ZBTB7B ZNF48 YY1 ZNF766 GLIS2 ZNF213 CFAP206 ENSG00000213204 SLC35A1 PIR56225 GC06M087427
GH06I087421 Enhancer 0.7 ENCODE 6.8 +13.8 13752 1.1 PKNOX1 NEUROD1 SIN3A CEBPG CTBP1 GATA3 RCOR1 FOS SMARCE1 HCFC1 SLC35A1 RNU6-444P CFAP206 PIR56225 GC06M087427 ENSG00000213204
GH06I087393 Enhancer 0.7 ENCODE 0.4 -14.7 -14744 0.1 CTCF ZNF2 RAD21 IRF9 ZNF664 ZNF213 SMC3 ZNF143 BCLAF1 RUNX3 SLC35A1 CFAP206 GC06P087375 SMIM8 LINC01590
GH06I087436 Enhancer 0.9 Ensembl 0.3 +28.6 28629 0.4 PKNOX1 ATF1 ARID4B SIN3A ZNF2 SLC30A9 ZNF766 CBX5 ZNF302 ZNF143 ORC3 ENSG00000272008 LINC01590 SLC35A1 LOC100420741 TAF13P1 ENSG00000213204 CFAP206
GH06I087444 Enhancer 0.4 ENCODE 0.3 +36.7 36718 0.8 SP1 TEAD1 TEAD3 ST13P16 SLC35A1 RNU6-444P LOC100420741 ENSG00000213204 CFAP206
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CFAP206 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CFAP206 Gene

Genomic Locations for CFAP206 Gene
chr6:87,407,972-87,464,473
(GRCh38/hg38)
Size:
56,502 bases
Orientation:
Plus strand
chr6:88,117,701-88,174,183
(GRCh37/hg19)

Genomic View for CFAP206 Gene

Genes around CFAP206 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFAP206 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CFAP206 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFAP206 Gene

Proteins for CFAP206 Gene

  • Protein details for CFAP206 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IYR0-CF206_HUMAN
    Recommended name:
    Cilia- and flagella-associated protein 206
    Protein Accession:
    Q8IYR0
    Secondary Accessions:
    • A8K969
    • E1P507
    • Q8N9U4

    Protein attributes for CFAP206 Gene

    Size:
    622 amino acids
    Molecular mass:
    71193 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC04234.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};

neXtProt entry for CFAP206 Gene

Post-translational modifications for CFAP206 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CFAP206 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CFAP206 Gene

Domains & Families for CFAP206 Gene

Gene Families for CFAP206 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CFAP206 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CFAP206 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IYR0

UniProtKB/Swiss-Prot:

CF206_HUMAN :
  • Belongs to the CFAP206 family.
Family:
  • Belongs to the CFAP206 family.
genes like me logo Genes that share domains with CFAP206: view

Function for CFAP206 Gene

Molecular function for CFAP206 Gene

UniProtKB/Swiss-Prot Function:
May regulate cilium motility through its role in the assembly of the axonemal radial spokes.

Phenotypes From GWAS Catalog for CFAP206 Gene

Gene Ontology (GO) - Molecular Function for CFAP206 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with CFAP206: view

Phenotypes for CFAP206 Gene

GenomeRNAi human phenotypes for CFAP206:
genes like me logo Genes that share phenotypes with CFAP206: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CFAP206 Gene

Localization for CFAP206 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFAP206 Gene

Cytoplasm, cytoskeleton, cilium axoneme.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CFAP206 gene
Compartment Confidence
cytoskeleton 5
cytosol 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CFAP206 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001534 radial spoke ISS --
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005929 cilium IEA --
GO:0031514 motile cilium ISS --
genes like me logo Genes that share ontologies with CFAP206: view

Pathways & Interactions for CFAP206 Gene

SuperPathways for CFAP206 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CFAP206 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003341 cilium movement ISS --
GO:0030030 cell projection organization IEA --
GO:0035082 axoneme assembly ISS --
genes like me logo Genes that share ontologies with CFAP206: view

No data available for Pathways by source and SIGNOR curated interactions for CFAP206 Gene

Drugs & Compounds for CFAP206 Gene

No Compound Related Data Available

Transcripts for CFAP206 Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CFAP206 Gene

No ASD Table

Relevant External Links for CFAP206 Gene

GeneLoc Exon Structure for
CFAP206
ECgene alternative splicing isoforms for
CFAP206

Expression for CFAP206 Gene

NURSA nuclear receptor signaling pathways regulating expression of CFAP206 Gene:

CFAP206

Evidence on tissue expression from TISSUES for CFAP206 Gene

  • Nervous system(4.1)
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CFAP206 Gene

Orthologs for CFAP206 Gene

This gene was present in the common ancestor of animals.

Orthologs for CFAP206 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia -- 34
  • 100 (a)
OneToMany
C6H6orf165 33
  • 99.73 (n)
dog
(Canis familiaris)
Mammalia C12H6orf165 33
  • 87.67 (n)
-- 34
  • 86 (a)
OneToMany
cow
(Bos Taurus)
Mammalia C9H6orf165 33
  • 86.08 (n)
-- 34
  • 82 (a)
OneToMany
mouse
(Mus musculus)
Mammalia 1700003M02Rik 33 34
  • 81.08 (n)
Cfap206 16
rat
(Rattus norvegicus)
Mammalia RGD1310641 33
  • 81.08 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 74 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 71 (a)
OneToMany
chicken
(Gallus gallus)
Aves C6ORF165 33
  • 65.8 (n)
-- 34
  • 58 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 68 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia c6orf165 33
  • 66.72 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:109719 33
  • 55.26 (n)
C20H6orf165 34
  • 48 (a)
OneToMany
Dr.16986 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008870 33
  • 41.68 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG13436 34
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 60 (a)
OneToMany
Species where no ortholog for CFAP206 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CFAP206 Gene

ENSEMBL:
Gene Tree for CFAP206 (if available)
TreeFam:
Gene Tree for CFAP206 (if available)

Paralogs for CFAP206 Gene

Paralogs for CFAP206 Gene

genes like me logo Genes that share paralogs with CFAP206: view

Variants for CFAP206 Gene

Sequence variations from dbSNP and Humsavar for CFAP206 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000099270 -- 87,429,134(+) G/A intron_variant
rs1000130290 -- 87,431,961(+) A/G intron_variant
rs1000163947 -- 87,462,363(+) A/T intron_variant
rs1000241662 -- 87,428,999(+) G/C intron_variant
rs1000266180 -- 87,411,800(+) TTT/TT intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CFAP206 Gene

Variant ID Type Subtype PubMed ID
dgv1200e214 CNV loss 21293372
dgv6085n100 CNV gain 25217958
esv1288596 CNV deletion 17803354
esv1979464 CNV deletion 18987734
esv2732388 CNV deletion 23290073
esv2732389 CNV deletion 23290073
esv2732390 CNV deletion 23290073
esv3087996 CNV deletion 24192839
esv3448264 CNV insertion 20981092
esv3540107 CNV deletion 23714750
esv3609864 CNV gain 21293372
esv994317 CNV insertion 20482838
nsv1109802 CNV deletion 24896259
nsv1147503 CNV deletion 26484159
nsv830722 CNV gain 17160897
nsv965744 CNV duplication 23825009

Variation tolerance for CFAP206 Gene

Residual Variation Intolerance Score: 96.6% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CFAP206 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CFAP206

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CFAP206 Gene

Disorders for CFAP206 Gene

No disorders were found for CFAP206 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CFAP206 Gene

Publications for CFAP206 Gene

  1. The versatile molecular complex component LC8 promotes several distinct steps of flagellar assembly. (PMID: 22753897) Gupta A … Yang P (The Journal of cell biology 2012) 2 3 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 58
  5. Widespread macromolecular interaction perturbations in human genetic disorders. (PMID: 25910212) Sahni N … Vidal M (Cell 2015) 3 58

Products for CFAP206 Gene

Sources for CFAP206 Gene

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