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Aliases for CFAP54 Gene

Aliases for CFAP54 Gene

  • Cilia And Flagella Associated Protein 54 2 3 5
  • Cilia And Flagella Associated 54 2 3
  • C12orf55 3 4
  • C12orf63 3 4
  • Cilia- And Flagella-Associated Protein 54 3
  • Chromosome 12 Open Reading Frame 63 2
  • Chromosome 12 Open Reading Frame 55 2

External Ids for CFAP54 Gene

Previous HGNC Symbols for CFAP54 Gene

  • C12orf63
  • C12orf55

Summaries for CFAP54 Gene

GeneCards Summary for CFAP54 Gene

CFAP54 (Cilia And Flagella Associated Protein 54) is a Protein Coding gene. Diseases associated with CFAP54 include Primary Ciliary Dyskinesia.

UniProtKB/Swiss-Prot for CFAP54 Gene

  • Required for assembly and function of cilia and flagella.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CFAP54 Gene

Genomics for CFAP54 Gene

Regulatory Elements for CFAP54 Gene

Enhancers for CFAP54 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
GH12F096419 1.7 FANTOM5 Ensembl ENCODE 11 -63.7 -63667 12.6 PKNOX1 ZFP64 ZNF493 SIN3A BRCA1 GTF3C2 ZNF121 KLF7 ZNF548 FOS ELK3 NEDD1 CDK17 CFAP54 METAP2 SNRPF USP44 RN7SKP11 GC12P096416
GH12F096206 1.7 FANTOM5 Ensembl ENCODE 10.7 -275.1 -275081 16.9 PKNOX1 WRNIP1 ARID4B SIN3A BRCA1 ZNF143 ZNF207 FOS DEK REST LTA4H CDK17 CFAP54 LOC102723340 PIR48131 ELK3
GH12F096396 1.5 FANTOM5 ENCODE 11.3 -89.8 -89806 5.5 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 CBX5 CDK17 CFAP54 RNU4-24P GC12M096389
GH12F096444 1.5 FANTOM5 Ensembl ENCODE 11.1 -42.7 -42732 4.7 TBP HDAC1 PKNOX1 ATF1 TBL1XR1 RAD21 ZBTB40 BRCA1 RFX5 GATA2 CDK17 CFAP54 NEDD1 RN7SKP11 ENSG00000258272
GH12F096414 1.5 FANTOM5 Ensembl ENCODE 10.9 -73.3 -73313 3.3 ELF3 TBP PKNOX1 RARA GTF3C2 FOS THAP11 ELK4 CEBPB PPARG CFAP54 LTA4H ELK3 GC12P096416 GC12M096404
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CFAP54 on UCSC Golden Path with GeneCards custom track

Promoters for CFAP54 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001466288 254 1200 ATF1 ARID4B SIN3A ZNF48 ZNF2 YY1 GLIS2 ZNF143 ZNF207 KLF7

Genomic Location for CFAP54 Gene

96,489,546 bp from pter
96,875,555 bp from pter
386,010 bases
Plus strand

Genomic View for CFAP54 Gene

Genes around CFAP54 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFAP54 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CFAP54 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFAP54 Gene

Proteins for CFAP54 Gene

  • Protein details for CFAP54 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Cilia- and flagella-associated protein 54
    Protein Accession:
    Secondary Accessions:
    • E9PJL5
    • Q6ZTY8

    Protein attributes for CFAP54 Gene

    3096 amino acids
    Molecular mass:
    351970 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAC86439.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for CFAP54 Gene


neXtProt entry for CFAP54 Gene

Post-translational modifications for CFAP54 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CFAP54 Gene

Domains & Families for CFAP54 Gene

Protein Domains for CFAP54 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the CFAP54 family.
  • Belongs to the CFAP54 family.
genes like me logo Genes that share domains with CFAP54: view

No data available for Gene Families and Suggested Antigen Peptide Sequences for CFAP54 Gene

Function for CFAP54 Gene

Molecular function for CFAP54 Gene

UniProtKB/Swiss-Prot Function:
Required for assembly and function of cilia and flagella.

Phenotypes for CFAP54 Gene

GenomeRNAi human phenotypes for CFAP54:
genes like me logo Genes that share phenotypes with CFAP54: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry 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 CFAP54 Gene

Localization for CFAP54 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFAP54 Gene

Cytoplasm, cytoskeleton, cilium axoneme.

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 CFAP54 gene
Compartment Confidence
cytoskeleton 5
plasma membrane 3
peroxisome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for CFAP54 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005929 cilium IEA --
GO:0005930 axoneme ISS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with CFAP54: view

Pathways & Interactions for CFAP54 Gene

SuperPathways for CFAP54 Gene

No Data Available

Interacting Proteins for CFAP54 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
Selected Interacting proteins: ENSP00000431759 for CFAP54 Gene via STRING

Symbol External ID(s) Details

Gene Ontology (GO) - Biological Process for CFAP54 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007283 spermatogenesis ISS --
GO:0030030 cell projection organization IEA --
GO:0030154 cell differentiation IEA --
GO:0060271 cilium assembly ISS --
GO:0060294 cilium movement involved in cell motility ISS --
genes like me logo Genes that share ontologies with CFAP54: view

No data available for Pathways by source and SIGNOR curated interactions for CFAP54 Gene

Transcripts for CFAP54 Gene

mRNA/cDNA for CFAP54 Gene

(18) REFSEQ mRNAs :
(9) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CFAP54 Gene

No ASD Table

Relevant External Links for CFAP54 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CFAP54 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CFAP54 Gene

Protein differential expression in normal tissues from HIPED for CFAP54 Gene

This gene is overexpressed in Cervix (63.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CFAP54 Gene

Protein tissue co-expression partners for CFAP54 Gene

NURSA nuclear receptor signaling pathways regulating expression of CFAP54 Gene:

genes like me logo Genes that share expression patterns with CFAP54: view

Primer 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 CFAP54 Gene

Orthologs for CFAP54 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CFAP54 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia C12H12orf63 34
  • 99.17 (n)
C12orf55 35
  • 99 (a)
(Canis familiaris)
Mammalia LOC102153340 34
  • 87.4 (n)
C12orf55 35
  • 81 (a)
(Bos Taurus)
Mammalia LOC787705 34
  • 84.89 (n)
C12orf55 35
  • 78 (a)
(Mus musculus)
Mammalia 4930485B16Rik 34
  • 77.32 (n)
Gm872 35
  • 70 (a)
Cfap54 16
(Rattus norvegicus)
Mammalia RGD1565866 34
  • 76.39 (n)
(Ornithorhynchus anatinus)
Mammalia C12orf55 35
  • 65 (a)
(Gallus gallus)
Aves LOC417921 34
  • 60.91 (n)
C12orf55 35
  • 51 (a)
(Anolis carolinensis)
Reptilia C12orf55 35
  • 46 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490177 34
  • 55.66 (n)
(Danio rerio)
Actinopterygii LOC100536124 34
  • 49.11 (n)
C12orf55 35
  • 37 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 44 (a)
Species where no ortholog for CFAP54 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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 CFAP54 Gene

Gene Tree for CFAP54 (if available)
Gene Tree for CFAP54 (if available)

Paralogs for CFAP54 Gene

No data available for Paralogs for CFAP54 Gene

Variants for CFAP54 Gene

Sequence variations from dbSNP and Humsavar for CFAP54 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1010493 -- 96,535,898(-) ATGGA(C/T)TGAAA intron-variant
rs1010494 -- 96,535,861(-) CTTCC(A/T)AAAAA intron-variant
rs1010495 -- 96,535,789(-) ACTCA(A/G)AATGA intron-variant
rs10128769 -- 96,766,271(+) TGAGG(C/T)TTTGT intron-variant
rs10128855 -- 96,766,347(+) TGAAC(A/G)TCAGA intron-variant

Variation tolerance for CFAP54 Gene

Gene Damage Index Score: 10.07; 90.17% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CFAP54 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CFAP54 Gene

Disorders for CFAP54 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CFAP54 Gene - From: DISEASES

Disorder Aliases PubMed IDs
primary ciliary dyskinesia
  • ciliary motility disorder
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CFAP54

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CFAP54: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CFAP54 Gene

Publications for CFAP54 Gene

  1. The finished DNA sequence of human chromosome 12. (PMID: 16541075) Scherer S.E. … Gibbs R.A. (Nature 2006) 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women. (PMID: 20966902) Croteau-Chonka D.C. … Mohlke K.L. (Obesity (Silver Spring) 2011) 3 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 64
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3 64

Products for CFAP54 Gene

Sources for CFAP54 Gene

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