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Aliases for CFAP20 Gene

Aliases for CFAP20 Gene

  • Cilia And Flagella Associated Protein 20 2 3 5
  • Functional Spliceosome-Associated Protein 23 2 3
  • Basal Body Up-Regulated Protein 22 3 4
  • Transcription Factor IIB 3 4
  • C16orf80 3 4
  • Flagellar Associated Protein 20 Homolog (Chlamydomonas) 2
  • Flagellar Associated Protein 20 Homolog 3
  • Chromosome 16 Open Reading Frame 80 2
  • UPF0468 Protein C16orf80 3
  • Gene Trap Locus 3 3
  • FSAP23 3
  • EVORF 3
  • BUG22 4
  • GTL3 3

External Ids for CFAP20 Gene

Previous HGNC Symbols for CFAP20 Gene

  • C16orf80

Summaries for CFAP20 Gene

GeneCards Summary for CFAP20 Gene

CFAP20 (Cilia And Flagella Associated Protein 20) is a Protein Coding gene. Diseases associated with CFAP20 include familial atrial fibrillation. GO annotations related to this gene include poly(A) RNA binding.

UniProtKB/Swiss-Prot for CFAP20 Gene

  • Cilium- and flagellum-specific protein that plays a role in axonemal structure organization and motility. Involved in the regulation of the size and morphology of cilia (PubMed:24414207). Required for axonemal microtubules polyglutamylation (PubMed:24414207).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CFAP20 Gene

Genomics for CFAP20 Gene

Regulatory Elements for CFAP20 Gene

Enhancers for CFAP20 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CFAP20 on UCSC Golden Path with GeneCards custom track

Promoters for CFAP20 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CFAP20 on UCSC Golden Path with GeneCards custom track

Genomic Location for CFAP20 Gene

Chromosome:
16
Start:
58,113,588 bp from pter
End:
58,129,450 bp from pter
Size:
15,863 bases
Orientation:
Minus strand

Genomic View for CFAP20 Gene

Genes around CFAP20 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFAP20 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CFAP20 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFAP20 Gene

Proteins for CFAP20 Gene

  • Protein details for CFAP20 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y6A4-CFA20_HUMAN
    Recommended name:
    Cilia- and flagella-associated protein 20
    Protein Accession:
    Q9Y6A4

    Protein attributes for CFAP20 Gene

    Size:
    193 amino acids
    Molecular mass:
    22774 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CFAP20 Gene

Proteomics data for CFAP20 Gene at MOPED

Post-translational modifications for CFAP20 Gene

  • Ubiquitination at Lys 115 and Lys 182
  • Modification sites at PhosphoSitePlus

Other Protein References for CFAP20 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CFAP20 Gene

Domains & Families for CFAP20 Gene

Protein Domains for CFAP20 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CFAP20 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y6A4

UniProtKB/Swiss-Prot:

CFA20_HUMAN :
  • Belongs to the CFAP20 family.
Family:
  • Belongs to the CFAP20 family.
genes like me logo Genes that share domains with CFAP20: view

No data available for Gene Families for CFAP20 Gene

Function for CFAP20 Gene

Molecular function for CFAP20 Gene

UniProtKB/Swiss-Prot Function:
Cilium- and flagellum-specific protein that plays a role in axonemal structure organization and motility. Involved in the regulation of the size and morphology of cilia (PubMed:24414207). Required for axonemal microtubules polyglutamylation (PubMed:24414207).
genes like me logo Genes that share phenotypes with CFAP20: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CFAP20 Gene

Localization for CFAP20 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFAP20 Gene

Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, cilium basal body. Cell projection, cilium.

Gene Ontology (GO) - Cellular Components for CFAP20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005814 centriole IDA 20118210
GO:0005929 cilium IEA,IDA 20118210
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with CFAP20: view

No data available for Subcellular locations from COMPARTMENTS for CFAP20 Gene

Pathways & Interactions for CFAP20 Gene

SuperPathways for CFAP20 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CFAP20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development TAS 8688464
GO:0060296 regulation of cilium beat frequency involved in ciliary motility IDA 20118210
genes like me logo Genes that share ontologies with CFAP20: view

No data available for Pathways by source and SIGNOR curated interactions for CFAP20 Gene

Drugs & Compounds for CFAP20 Gene

(4) Drugs for CFAP20 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for CFAP20 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CFAP20: view

Transcripts for CFAP20 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for CFAP20 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c · 4d · 4e ^ 5 ^ 6a · 6b
SP1: - - - -
SP2: - - -
SP3: - - - -
SP4: -
SP5: -
SP6:

Relevant External Links for CFAP20 Gene

GeneLoc Exon Structure for
CFAP20
ECgene alternative splicing isoforms for
CFAP20

Expression for CFAP20 Gene

mRNA expression in normal human tissues for CFAP20 Gene

Protein differential expression in normal tissues from HIPED for CFAP20 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (12.6) and Tlymphocyte (10.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CFAP20 Gene



genes like me logo Genes that share expression patterns with CFAP20: view

Protein tissue co-expression partners for CFAP20 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CFAP20 Gene

Orthologs for CFAP20 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CFAP20 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia C18H16orf80 35
  • 93.44 (n)
  • 99.48 (a)
C18H16orf80 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C2H16orf80 35
  • 91.36 (n)
  • 99.48 (a)
C16orf80 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gtl3 35
  • 91.02 (n)
  • 99.48 (a)
Cfap20 16
Gtl3 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia C16H16orf80 35
  • 99.83 (n)
  • 100 (a)
C16orf80 36
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C16orf80 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C16orf80 36
  • 99 (a)
OneToOne
chicken
(Gallus gallus)
Aves C11H16ORF80 35
  • 85.32 (n)
  • 98.96 (a)
C11H16ORF80 36
  • 99 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C16orf80 36
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.5992 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.16654 35
zebrafish
(Danio rerio)
Actinopterygii zgc73380 35
zgc:73380 35
  • 82.81 (n)
  • 98.96 (a)
C19H16orf80 36
  • 99 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3271 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009680 35
  • 76.24 (n)
  • 96.28 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG5343 35
  • 76.86 (n)
  • 92.23 (a)
CG17118 36
  • 41 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C54C6.6 35
  • 65.61 (n)
  • 77.37 (a)
C54C6.6 36
  • 73 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G12300 35
  • 66.49 (n)
  • 77.13 (a)
soybean
(Glycine max)
eudicotyledons Gma.17218 35
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3529 35
barley
(Hordeum vulgare)
Liliopsida Hv.12910 35
rice
(Oryza sativa)
Liliopsida Os.6424 35
Os09g0510200 35
  • 66.67 (n)
  • 78.82 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.1281 35
corn
(Zea mays)
Liliopsida Zm.1408 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2012 35
Species with no ortholog for CFAP20:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • 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)
  • rat (Rattus norvegicus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for CFAP20 Gene

ENSEMBL:
Gene Tree for CFAP20 (if available)
TreeFam:
Gene Tree for CFAP20 (if available)

Paralogs for CFAP20 Gene

No data available for Paralogs for CFAP20 Gene

Variants for CFAP20 Gene

Sequence variations from dbSNP and Humsavar for CFAP20 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs14272 -- 58,113,783(+) CAGGC(A/G)GCGGA utr-variant-3-prime
rs4784892 -- 58,119,756(+) TGCCC(A/G)CCTCA intron-variant
rs4784893 -- 58,119,772(+) CATCT(A/C)ATGTT intron-variant
rs4784894 -- 58,119,773(+) ATCTC(A/C)TGTTC intron-variant
rs4784895 -- 58,119,810(+) CATCT(A/C)CTGTT intron-variant

Variation tolerance for CFAP20 Gene

Residual Variation Intolerance Score: 30.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.20; 4.59% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CFAP20 Gene

HapMap Linkage Disequilibrium report
CFAP20

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CFAP20 Gene

Disorders for CFAP20 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CFAP20 Gene - From: DISEASES

Disorder Aliases PubMed IDs
familial atrial fibrillation
  • atrial fibrillation, familial, 1
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CFAP20

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CFAP20
genes like me logo Genes that share disorders with CFAP20: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CFAP20 Gene

Publications for CFAP20 Gene

  1. Bug22 influences cilium morphology and the post-translational modification of ciliary microtubules. (PMID: 24414207) Mendes Maia T. … Basto R. (Biol. Open 2014) 3 4 67
  2. Sequence and expression pattern of an evolutionarily conserved transcript identified by gene trapping. (PMID: 8688464) Rijkers T. … RA1ther U. (Biochim. Biophys. Acta 1996) 2 3
  3. Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes. (PMID: 25609649) Li X. … Chen J. (Mol. Syst. Biol. 2015) 3
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  5. A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning. (PMID: 26673895) KA+rlA+ K. … GAPrlich D. (Elife 2015) 3

Products for CFAP20 Gene

Sources for CFAP20 Gene

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