Aliases for CFAP20 Gene

Aliases for CFAP20 Gene

  • Cilia And Flagella Associated Protein 20 2 3 5
  • Functional Spliceosome-Associated Protein 23 2 3
  • Cilia- And Flagella-Associated Protein 20 3 4
  • Basal Body Up-Regulated Protein 22 3 4
  • Transcription Factor IIB 3 4
  • C16orf80 3 4
  • BUG22 3 4
  • GTL3 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

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. An important paralog of this gene is C3orf67.

UniProtKB/Swiss-Prot Summary 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).

Additional gene information for CFAP20 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CFAP20 Gene

Genomics for CFAP20 Gene

GeneHancer (GH) Regulatory Elements for CFAP20 Gene

Promoters and enhancers for CFAP20 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CFAP20 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CFAP20

Genomic Locations for CFAP20 Gene

Genomic Locations for CFAP20 Gene
chr16:58,113,592-58,129,392
(GRCh38/hg38)
Size:
15,801 bases
Orientation:
Minus strand
chr16:58,147,496-58,163,354
(GRCh37/hg19)
Size:
15,859 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

Post-translational modifications for CFAP20 Gene

  • Ubiquitination at Lys115 and Lys182
  • 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

Gene Families for CFAP20 Gene

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

Protein Domains for CFAP20 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CFAP20 Gene

GenScript: Design optimal peptide antigens:
  • Transcription factor IIB (CP080_HUMAN)

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

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).

Phenotypes From GWAS Catalog for CFAP20 Gene

Gene Ontology (GO) - Molecular Function for CFAP20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22681889
GO:0005515 protein binding IPI 24947832
genes like me logo Genes that share ontologies with CFAP20: view
genes like me logo Genes that share phenotypes with CFAP20: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFAP20

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , 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.

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 CFAP20 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
mitochondrion 2
cytosol 2
plasma membrane 1
extracellular 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CFAP20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005814 centriole IEA,IDA 20118210
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with CFAP20: view

Pathways & Interactions for CFAP20 Gene

PathCards logo

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:0018095 protein polyglutamylation IMP 24414207
GO:0060271 cilium assembly IMP,IBA 24414207
GO:0060296 regulation of cilium beat frequency involved in ciliary motility IBA,IDA 20118210
GO:2000147 positive regulation of cell motility IBA,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

mRNA/cDNA for CFAP20 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFAP20

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

Expression for CFAP20 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for CFAP20 Gene



Protein tissue co-expression partners for CFAP20 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CFAP20

Evidence on tissue expression from TISSUES for CFAP20 Gene

  • Nervous system(4.8)
  • Muscle(4.3)
genes like me logo Genes that share expression patterns with CFAP20: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia C16orf80 31
  • 100 (a)
OneToOne
C16H16orf80 30
  • 99.83 (n)
dog
(Canis familiaris)
Mammalia C16orf80 31
  • 99 (a)
OneToOne
C2H16orf80 30
  • 91.36 (n)
oppossum
(Monodelphis domestica)
Mammalia C16orf80 31
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C16orf80 31
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C18H16orf80 31 30
  • 93.44 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gtl3 31 30
  • 91.02 (n)
OneToOne
Cfap20 17
chicken
(Gallus gallus)
Aves C11H16ORF80 31 30
  • 85.32 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C16orf80 31
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.5992 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.16654 30
zebrafish
(Danio rerio)
Actinopterygii C19H16orf80 31
  • 99 (a)
OneToOne
zgc:73380 30
  • 82.81 (n)
zgc73380 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3271 30
fruit fly
(Drosophila melanogaster)
Insecta CG5343 30
  • 76.86 (n)
CG17118 31
  • 41 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009680 30
  • 76.24 (n)
worm
(Caenorhabditis elegans)
Secernentea C54C6.6 31 30
  • 65.61 (n)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G12300 30
  • 66.49 (n)
soybean
(Glycine max)
eudicotyledons Gma.17218 30
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3529 30
rice
(Oryza sativa)
Liliopsida Os09g0510200 30
  • 66.67 (n)
Os.6424 30
barley
(Hordeum vulgare)
Liliopsida Hv.12910 30
wheat
(Triticum aestivum)
Liliopsida Ta.1281 30
corn
(Zea mays)
Liliopsida Zm.1408 30
sea squirt
(Ciona savignyi)
Ascidiacea Cin.2012 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2012 30
Species where no ortholog for CFAP20 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CFAP20: view image

Paralogs for CFAP20 Gene

Paralogs for CFAP20 Gene

genes like me logo Genes that share paralogs with CFAP20: view

Variants for CFAP20 Gene

Additional dbSNP identifiers (rs#s) for CFAP20 Gene

Structural Variations from Database of Genomic Variants (DGV) for CFAP20 Gene

Variant ID Type Subtype PubMed ID
esv2618354 CNV insertion 19546169
esv2714546 CNV deletion 23290073
esv2714547 CNV deletion 23290073
esv3638719 CNV gain 21293372
esv3638720 CNV gain 21293372
nsv572760 CNV loss 21841781

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)

Additional Variant Information for CFAP20 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CFAP20

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP 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

Additional Disease Information for 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 (Biology open 2014) 3 4 54
  2. Bug22p, a conserved centrosomal/ciliary protein also present in higher plants, is required for an effective ciliary stroke in Paramecium. (PMID: 20118210) Laligné C … Koll F (Eukaryotic cell 2010) 3 4 54
  3. Sequence and expression pattern of an evolutionarily conserved transcript identified by gene trapping. (PMID: 8688464) Rijkers T … Rüther U (Biochimica et biophysica acta 1996) 2 3 54
  4. ATG5 is required for B cell polarization and presentation of particulate antigens. (PMID: 30196744) Arbogast F … Gros F (Autophagy 2019) 3 54
  5. Parkinson's disease-associated LRRK2-G2019S mutant acts through regulation of SERCA activity to control ER stress in astrocytes. (PMID: 31046837) Lee JH … Jou I (Acta neuropathologica communications 2019) 3 54

Products for CFAP20 Gene

Sources for CFAP20 Gene