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Aliases for C21orf59 Gene

Aliases for C21orf59 Gene

  • Chromosome 21 Open Reading Frame 59 2 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 C21orf59 Gene

Previous HGNC Symbols for C21orf59 Gene

  • C21orf48

Previous GeneCards Identifiers for C21orf59 Gene

  • GC21M030551
  • GC21M030634
  • GC21M032894
  • GC21M032895
  • GC21M033951
  • GC21M019383

Summaries for C21orf59 Gene

Entrez Gene Summary for C21orf59 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 C21orf59 Gene

C21orf59 (Chromosome 21 Open Reading Frame 59) is a Protein Coding gene. Diseases associated with C21orf59 include Ciliary Dyskinesia, Primary, 26 and Primary Ciliary Dyskinesia 26: C21orf59-Related Primary Ciliary Dyskinesia. An important paralog of this gene is ENSG00000265590.

UniProtKB/Swiss-Prot for C21orf59 Gene

  • May play a role in motile cilia function, possibly by acting on dynein arm assembly.

Gene Wiki entry for C21orf59 Gene

Additional gene information for C21orf59 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C21orf59 Gene

Genomics for C21orf59 Gene

Regulatory Elements for C21orf59 Gene

Enhancers for C21orf59 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH21H032769 1.2 ENCODE 68 -158.5 -158488 3.9 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 SP3 NFYC ZC3H11A ZFP41 PAXBP1 TMEM50B SON DONSON C21orf59 EVA1C URB1 MIS18A-AS1 MIS18A GART
GH21H032492 1.4 Ensembl ENCODE dbSUPER 42.6 +118.2 118186 4.6 PKNOX1 ZNF493 ZFP64 FEZF1 BATF RFX5 EGR1 ZNF350 FOS EGR2 PAXBP1 TMEM50B SCAF4 EVA1C C21orf59 URB1 MIS18A C21orf62-AS1 ENSG00000238390 ENSG00000252045
GH21H032258 1.2 Ensembl ENCODE 42.6 +354.4 354366 0.6 RB1 ZNF493 ZFP64 RAD21 ZNF354C SCRT2 ZNF143 RUNX3 DEK ZNF202 PAXBP1 SCAF4 EVA1C C21orf59 URB1 MIS18A PAXBP1-AS1 C21orf62-AS1 LINC00846 ENSG00000238390
GH21H033539 1.4 ENCODE dbSUPER 23.9 -930.1 -930142 6.5 DMAP1 YY1 ZNF143 SP3 NFYC ZC3H11A MEF2D SSRP1 ZNF610 GLIS1 SON PAXBP1 TMEM50B GART DONSON C21orf140 C21orf59 PAXBP1-AS1 DNAJC28 ENSG00000231355
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C21orf59 on UCSC Golden Path with GeneCards custom track

Promoters for C21orf59 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Locations for C21orf59 Gene

Genomic Locations for C21orf59 Gene
20,788 bases
Minus strand

Genomic View for C21orf59 Gene

Genes around C21orf59 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C21orf59 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C21orf59 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C21orf59 Gene

Proteins for C21orf59 Gene

  • Protein details for C21orf59 Gene (UniProtKB/Swiss-Prot)

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

    Protein attributes for C21orf59 Gene

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

neXtProt entry for C21orf59 Gene

Post-translational modifications for C21orf59 Gene

  • Ubiquitination at posLast=210210 and Lys276
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for C21orf59 Gene

Domains & Families for C21orf59 Gene

Gene Families for C21orf59 Gene

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

Protein Domains for C21orf59 Gene


Suggested Antigen Peptide Sequences for C21orf59 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the UPF0769 family.
  • Belongs to the UPF0769 family.
genes like me logo Genes that share domains with C21orf59: view

Function for C21orf59 Gene

Molecular function for C21orf59 Gene

UniProtKB/Swiss-Prot Function:
May play a role in motile cilia function, possibly by acting on dynein arm assembly.

Phenotypes for C21orf59 Gene

genes like me logo Genes that share phenotypes with C21orf59: view

Human Phenotype Ontology for C21orf59 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for C21orf59 Gene

Localization for C21orf59 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C21orf59 Gene

Cytoplasm. Note=Partially colocalized with SASS6 in cytoplasmic puncta, suggesting a centrosomal localization. {ECO:0000250}.

Subcellular locations from

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 C21orf59 gene
Compartment Confidence
nucleus 5
cytosol 5

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for C21orf59 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 16780588
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA 16780588
genes like me logo Genes that share ontologies with C21orf59: view

Pathways & Interactions for C21orf59 Gene

SuperPathways for C21orf59 Gene

No Data Available

Gene Ontology (GO) - Biological Process for C21orf59 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0048858 cell projection morphogenesis IBA --
genes like me logo Genes that share ontologies with C21orf59: view

No data available for Pathways by source and SIGNOR curated interactions for C21orf59 Gene

Drugs & Compounds for C21orf59 Gene

No Compound Related Data Available

Transcripts for C21orf59 Gene

Unigene Clusters for C21orf59 Gene

Chromosome 21 open reading frame 59:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C21orf59 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c · 4d ^ 5a · 5b ^ 6 ^ 7a · 7b
SP1: - -
SP2: - - -
SP3: -
SP4: - -
SP5: - -
SP6: - - -

Relevant External Links for C21orf59 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for C21orf59 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C21orf59 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for C21orf59 Gene

This gene is overexpressed in Testis (40.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for C21orf59 Gene

Protein tissue co-expression partners for C21orf59 Gene

NURSA nuclear receptor signaling pathways regulating expression of C21orf59 Gene:


SOURCE GeneReport for Unigene cluster for C21orf59 Gene:


Evidence on tissue expression from TISSUES for C21orf59 Gene

  • Nervous system(4.1)
  • Lung(2.4)
  • Pancreas(2)
genes like me logo Genes that share expression patterns with C21orf59: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for C21orf59 Gene

Orthologs for C21orf59 Gene

This gene was present in the common ancestor of animals.

Orthologs for C21orf59 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia C21orf59 34
  • 100 (a)
C21H21orf59 33
  • 99.31 (n)
(Canis familiaris)
Mammalia C21orf59 34
  • 91 (a)
C31H21orf59 33
  • 88.51 (n)
(Bos Taurus)
Mammalia C1H21orf59 33
  • 89.77 (n)
(Monodelphis domestica)
Mammalia -- 34
  • 85 (a)
(Mus musculus)
Mammalia 1110004E09Rik 33 16
  • 84.37 (n)
(Rattus norvegicus)
Mammalia RGD1306954 33
  • 84.14 (n)
(Gallus gallus)
Aves C1H21ORF59 33 34
  • 74.94 (n)
(Anolis carolinensis)
Reptilia -- 34
  • 79 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia c21orf59 33
  • 70.92 (n)
Str.11895 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.4468 33
(Danio rerio)
Actinopterygii C10H21orf59 34
  • 72 (a)
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 33 34
  • 55.29 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7348 34
  • 63 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1942 33
Species where no ortholog for C21orf59 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 C21orf59 Gene

Gene Tree for C21orf59 (if available)
Gene Tree for C21orf59 (if available)

Paralogs for C21orf59 Gene

Paralogs for C21orf59 Gene Pseudogenes for C21orf59 Gene

genes like me logo Genes that share paralogs with C21orf59: view

Variants for C21orf59 Gene

Sequence variations from dbSNP and Humsavar for C21orf59 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs140727644 Ciliary dyskinesia, primary, 26 (CILD26) [MIM:615500] 32,604,237(+) AGGCA(C/T)CTTTC nc-transcript-variant, reference, missense
rs143740376 Pathogenic 32,609,853(+) CCTTC(A/G)TCCAA nc-transcript-variant, reference, stop-gained
rs202094637 Pathogenic 32,602,299(+) TGATA(A/C/G)TACAG nc-transcript-variant, reference, stop-gained
rs398122401 Pathogenic 32,601,941(-) GCCTA(-/TTTA)AACTC nc-transcript-variant, reference, frameshift-variant
rs142517552 Uncertain significance 32,604,268(+) GACAC(C/T)GGCTT nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for C21orf59 Gene

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

Variation tolerance for C21orf59 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)

Relevant External Links for C21orf59 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C21orf59 Gene

Disorders for C21orf59 Gene

MalaCards: The human disease database

(10) MalaCards diseases for C21orf59 Gene - From: HGMD, OMIM, ClinVar, GeneTests, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ciliary dyskinesia, primary, 26
  • primary ciliary dyskinesia 26
primary ciliary dyskinesia 26: c21orf59-related primary ciliary dyskinesia
  • ciliary dyskinesia, primary, 26
kartagener syndrome
  • kartagener's syndrome
ciliary dyskinesia, primary, 1, with or without situs inversus
  • primary ciliary dyskinesia 1
breast lymphoma
  • lymphoma of breast
- elite association - COSMIC cancer census association via MalaCards


  • 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.

Relevant External Links for C21orf59

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with C21orf59: view

No data available for Genatlas for C21orf59 Gene

Publications for C21orf59 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 60
  2. c21orf59/kurly Controls Both Cilia Motility and Polarization. (PMID: 26904945) Jaffe KM … Burdine RD (Cell reports 2016) 2 3 60
  3. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PMID: 15592455) Rush J … Comb MJ (Nature biotechnology 2005) 3 4 60
  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 60
  5. Identification of C21orf59 and ATG2A as novel determinants of renal function-related traits in Japanese by exome-wide association studies. (PMID: 28410202) Yamada Y … Tanaka M (Oncotarget 2017) 3 60

Products for C21orf59 Gene

Sources for C21orf59 Gene

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