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Aliases for CFAP298 Gene

Aliases for CFAP298 Gene

  • Cilia And Flagella Associated Protein 298 2 3
  • Chromosome 21 Open Reading Frame 59 2 5
  • Protein Kurly Homolog 3 4
  • C21orf59 3 5
  • C21orf48 3 4
  • Prostate Cancer Upregulated Protein 1 3
  • Chromosome 21 Open Reading Frame 48 2
  • Kurly Homolog (Zebrafish) 2
  • UPF0769 Protein C21orf59 3
  • Kurly Homolog 3
  • CILD26 3
  • FBB18 3
  • Kur 3

External Ids for CFAP298 Gene

Previous HGNC Symbols for CFAP298 Gene

  • C21orf48
  • C21orf59

Summaries for CFAP298 Gene

Entrez Gene Summary for CFAP298 Gene

  • This gene encodes a protein that plays a critical role in dynein arm assembly and motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Naturally occuring readthrough transcription occurs from this locus to the downstream t-complex 10 like (TCP10L) gene. [provided by RefSeq, Apr 2017]

GeneCards Summary for CFAP298 Gene

CFAP298 (Cilia And Flagella Associated Protein 298) is a Protein Coding gene. Diseases associated with CFAP298 include Ciliary Dyskinesia, Primary, 26 and Kartagener Syndrome. An important paralog of this gene is ENSG00000265590.

UniProtKB/Swiss-Prot for CFAP298 Gene

  • Plays a role in motile cilium function, possibly by acting on outer dynein arm assembly (PubMed:24094744). Seems to be important for initiation rather than maintenance of cilium motility (By similarity). Required for correct positioning of the cilium at the apical cell surface, suggesting an additional role in the planar cell polarity (PCP) pathway (By similarity). May suppress canonical Wnt signaling activity (By similarity).

Gene Wiki entry for CFAP298 Gene

Additional gene information for CFAP298 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CFAP298 Gene

Genomics for CFAP298 Gene

GeneHancer (GH) Regulatory Elements for CFAP298 Gene

Promoters and enhancers for CFAP298 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
GH21J032611 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 676 +0.4 419 2.9 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 SP3 ZFP41 CFAP298 ENSG00000265590 SCAF4 PAXBP1 SON TMEM50B GART MIS18A EVA1C DONSON
GH21J032604 Promoter/Enhancer 1 EPDnew ENCODE 650.4 +8.0 8000 2 SP1 RFX1 POLR2A SCRT2 MAX SIN3A CFAP298 EVA1C SNORA80A ENSG00000252045 URB1 URB1-AS1 ENSG00000265590 TCP10L
GH21J032769 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 60 -158.5 -158487 3.9 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 ZNF143 ZNF263 PAXBP1 C21orf62-AS1 SON TMEM50B DONSON CFAP298 MIS18A EVA1C URB1 GART
GH21J033478 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 24.4 -866.8 -866795 2.8 PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 POLR2B TMEM50B PAXBP1 DONSON SON CFAP298 GART FAM243A CRYZL1 EXOSC3P1 IFNGR2
GH21J032492 Enhancer 1.3 Ensembl ENCODE dbSUPER 31.8 +118.2 118186 4.6 PKNOX1 ZNF493 ZFP64 FEZF1 BATF ZNF48 RFX5 ZNF213 EGR1 ZNF350 PAXBP1 TMEM50B SCAF4 EVA1C URB1 CFAP298 MIS18A C21orf62-AS1 ENSG00000238390 ENSG00000252045
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CFAP298 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CFAP298 Gene

Genomic Locations for CFAP298 Gene
chr21:32,592,079-32,612,866
(GRCh38/hg38)
Size:
20,788 bases
Orientation:
Minus strand
chr21:33,964,389-33,985,176
(GRCh37/hg19)
Size:
20,788 bases
Orientation:
Minus strand

Genomic View for CFAP298 Gene

Genes around CFAP298 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFAP298 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CFAP298 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFAP298 Gene

Proteins for CFAP298 Gene

  • Protein details for CFAP298 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P57076-CU059_HUMAN
    Recommended name:
    UPF0769 protein C21orf59
    Protein Accession:
    P57076
    Secondary Accessions:
    • Q53FH0

    Protein attributes for CFAP298 Gene

    Size:
    290 amino acids
    Molecular mass:
    33224 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CFAP298 Gene

Post-translational modifications for CFAP298 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CFAP298 Gene

Domains & Families for CFAP298 Gene

Gene Families for CFAP298 Gene

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

Protein Domains for CFAP298 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CFAP298 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P57076

UniProtKB/Swiss-Prot:

CU059_HUMAN :
  • Belongs to the UPF0769 family.
Family:
  • Belongs to the UPF0769 family.
genes like me logo Genes that share domains with CFAP298: view

Function for CFAP298 Gene

Molecular function for CFAP298 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in motile cilium function, possibly by acting on outer dynein arm assembly (PubMed:24094744). Seems to be important for initiation rather than maintenance of cilium motility (By similarity). Required for correct positioning of the cilium at the apical cell surface, suggesting an additional role in the planar cell polarity (PCP) pathway (By similarity). May suppress canonical Wnt signaling activity (By similarity).

Phenotypes From GWAS Catalog for CFAP298 Gene

genes like me logo Genes that share phenotypes with CFAP298: view

Human Phenotype Ontology for CFAP298 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for CFAP298 Gene

Localization for CFAP298 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFAP298 Gene

Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body. Note=Partially colocalized with SASS6 in cytoplasmic puncta, suggesting a centrosomal localization. {ECO:0000250 UniProtKB:Q5U3Z0}.

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 CFAP298 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 3

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CFAP298 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 16780588
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol HDA 16780588
GO:0005856 cytoskeleton IEA --
GO:0005929 cilium IEA --
genes like me logo Genes that share ontologies with CFAP298: view

Pathways & Interactions for CFAP298 Gene

SuperPathways for CFAP298 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CFAP298 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003352 regulation of cilium movement IMP 24094744
GO:0048858 cell projection morphogenesis IBA --
GO:0060271 cilium assembly IMP 24094744
genes like me logo Genes that share ontologies with CFAP298: view

No data available for Pathways by source and SIGNOR curated interactions for CFAP298 Gene

Drugs & Compounds for CFAP298 Gene

No Compound Related Data Available

Transcripts for CFAP298 Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CFAP298 Gene

No ASD Table

Relevant External Links for CFAP298 Gene

GeneLoc Exon Structure for
CFAP298
ECgene alternative splicing isoforms for
CFAP298

Expression for CFAP298 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of CFAP298 Gene:

CFAP298

Evidence on tissue expression from TISSUES for CFAP298 Gene

  • Nervous system(4.1)
  • Lung(2.4)
  • Pancreas(2)
genes like me logo Genes that share expression patterns with CFAP298: view

No data available for mRNA expression in normal human tissues , 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 CFAP298 Gene

Orthologs for CFAP298 Gene

This gene was present in the common ancestor of animals.

Orthologs for CFAP298 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C21orf59 34
  • 100 (a)
OneToOne
C21H21orf59 33
  • 99.31 (n)
dog
(Canis familiaris)
Mammalia C21orf59 34
  • 91 (a)
OneToOne
C31H21orf59 33
  • 88.51 (n)
cow
(Bos Taurus)
Mammalia C1H21orf59 33
  • 89.77 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 85 (a)
OneToMany
mouse
(Mus musculus)
Mammalia 1110004E09Rik 33
  • 84.37 (n)
Cfap298 16
rat
(Rattus norvegicus)
Mammalia RGD1306954 33
  • 84.14 (n)
chicken
(Gallus gallus)
Aves C1H21ORF59 34 33
  • 74.94 (n)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 79 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia c21orf59 33
  • 70.92 (n)
Str.11895 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.4468 33
zebrafish
(Danio rerio)
Actinopterygii C10H21orf59 34
  • 72 (a)
OneToMany
c21orf59 33
  • 69.89 (n)
sbcb615 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002817 33
  • 57.87 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG18675 34 33
  • 55.29 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7348 34
  • 63 (a)
OneToMany
Cin.1942 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1942 33
Species where no ortholog for CFAP298 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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 CFAP298 Gene

ENSEMBL:
Gene Tree for CFAP298 (if available)
TreeFam:
Gene Tree for CFAP298 (if available)

Paralogs for CFAP298 Gene

Paralogs for CFAP298 Gene

Pseudogenes.org Pseudogenes for CFAP298 Gene

genes like me logo Genes that share paralogs with CFAP298: view

Variants for CFAP298 Gene

Sequence variations from dbSNP and Humsavar for CFAP298 Gene

SNP ID Clin Chr 21 pos Variation AA Info Type
rs111591095 benign, Primary ciliary dyskinesia 32,609,875(-) C/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs113013357 benign, Primary ciliary dyskinesia 32,603,197(-) C/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs138091636 benign, Primary ciliary dyskinesia 32,602,266(-) T/C intron_variant
rs138178722 benign, Primary ciliary dyskinesia 32,612,167(-) T/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs140727644 Ciliary dyskinesia, primary, 26 (CILD26) [MIM:615500] 32,604,237(-) T/C coding_sequence_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for CFAP298 Gene

Variant ID Type Subtype PubMed ID
esv3646886 CNV gain 21293372
esv3646890 CNV loss 21293372
esv3893405 CNV gain 25118596
nsv1063676 CNV gain 25217958

Variation tolerance for CFAP298 Gene

Residual Variation Intolerance Score: 71% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.22; 4.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CFAP298 Gene

Human Gene Mutation Database (HGMD)
CFAP298
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CFAP298

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CFAP298 Gene

Disorders for CFAP298 Gene

MalaCards: The human disease database

(8) MalaCards diseases for CFAP298 Gene - From: HGMD, OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ciliary dyskinesia, primary, 26
  • cild26
kartagener syndrome
  • kartagener's syndrome
ciliary dyskinesia, primary, 1
  • cild1
primary ciliary dyskinesia
  • pcd
eye lymphoma
  • lymphoma of eye
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CU059_HUMAN
  • Ciliary dyskinesia, primary, 26 (CILD26) [MIM:615500]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269 PubMed:24094744}. Note=The disease is caused by mutations affecting the gene represented in this entry. Cilia in nasal epithelia show the absence of both outer and inner dynein-arm components and complete paralysis.

Additional Disease Information for CFAP298

genes like me logo Genes that share disorders with CFAP298: view

No data available for Genatlas for CFAP298 Gene

Publications for CFAP298 Gene

  1. Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. (PMID: 24094744) Austin-Tse C … Hildebrandt F (American journal of human genetics 2013) 2 3 4 58
  2. c21orf59/kurly Controls Both Cilia Motility and Polarization. (PMID: 26904945) Jaffe KM … Burdine RD (Cell reports 2016) 2 3 58
  3. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PMID: 15592455) Rush J … Comb MJ (Nature biotechnology 2005) 3 4 58
  4. 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
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for CFAP298 Gene

Sources for CFAP298 Gene

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