Aliases for CFAP54 Gene

Aliases for CFAP54 Gene

  • Cilia And Flagella Associated Protein 54 2 3 5
  • Cilia- And Flagella-Associated Protein 54 3 4
  • Cilia And Flagella Associated 54 2 3
  • C12orf55 3 4
  • C12orf63 3 4
  • 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 Summary for CFAP54 Gene

Additional gene information for CFAP54 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CFAP54 Gene

Genomics for CFAP54 Gene

GeneHancer (GH) Regulatory Elements for CFAP54 Gene

Promoters and enhancers for CFAP54 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J096486 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 750.6 -0.9 -907 3.6 SIN3A ZNF24 ZBTB40 CTCF RBPJ POLR2A CTBP1 HCFC1 MYC MAX CFAP54 NEDD1 ENSG00000257878 LTA4H CDK17 SNRPF ELK3 ENSG00000258272
GH12J096436 Promoter/Enhancer 0.9 EPDnew FANTOM5 dbSUPER 761.3 -53.0 -52990 0.4 ZBTB17 MAX POLR2A CFAP54 CDK17 RF00017-1217 RF00017-1218 ENSG00000258272
GH12J096491 Enhancer 0.2 Ensembl 750.6 +1.6 1555 0.2 CFAP54 lnc-CDK17-8
GH12J096396 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.3 -90.2 -90204 6.3 ZNF785 ZNF24 ZBTB40 CTCF SMARCE1 POLR2A TCF7L2 CTBP1 MIXL1 ZNF362 CDK17 lnc-CFAP54-4 CFAP54 USP44 RNU4-24P METAP2 lnc-LTA4H-7 ENSG00000257169
GH12J096419 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.1 -63.7 -63667 12.6 POLR2A HLF L3MBTL2 ZNF121 ZNF652 CEBPG ZNF548 PRDM1 ZNF680 ZNF404 CDK17 RN7SKP11 RF00100-031 RF00017-1216 lnc-CDK17-6 ELK3 CFAP54 SNRPF piR-42491-049 piR-33614-064
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CFAP54 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CFAP54 Gene

Genomic Locations for CFAP54 Gene
386,010 bases
Plus strand
385,985 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

Other Protein References for CFAP54 Gene

No data available for DME Specific Peptides for CFAP54 Gene

Domains & Families for CFAP54 Gene

Gene Families for CFAP54 Gene

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

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 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 From GWAS Catalog for CFAP54 Gene

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

Animal Model Products

CRISPR 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 4
plasma membrane 3
peroxisome 1
cytosol 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Microtubules (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CFAP54 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005856 cytoskeleton IEA --
GO:0005929 cilium IEA --
GO:0005930 axoneme ISS,IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CFAP54: view

Pathways & Interactions for CFAP54 Gene

PathCards logo

SuperPathways for CFAP54 Gene

No Data Available

Interacting Proteins for CFAP54 Gene

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,IEA --
GO:0060294 cilium movement involved in cell motility IEA,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

Drugs & Compounds for CFAP54 Gene

No Compound Related Data Available

Transcripts for CFAP54 Gene

mRNA/cDNA for CFAP54 Gene

(3) REFSEQ mRNAs :
(15) Additional mRNA sequences :
(9) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR 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 CGAP 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

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 , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 32
  • 99.17 (n)
C12orf55 33
  • 99 (a)
(Canis familiaris)
Mammalia LOC102153340 32
  • 87.4 (n)
C12orf55 33
  • 81 (a)
(Bos Taurus)
Mammalia LOC787705 32
  • 84.89 (n)
C12orf55 33
  • 78 (a)
(Mus musculus)
Mammalia 4930485B16Rik 32
  • 77.32 (n)
Gm872 33
  • 70 (a)
Cfap54 17
(Rattus norvegicus)
Mammalia RGD1565866 32
  • 76.39 (n)
(Ornithorhynchus anatinus)
Mammalia C12orf55 33
  • 65 (a)
(Gallus gallus)
Aves LOC417921 32
  • 60.91 (n)
C12orf55 33
  • 51 (a)
(Anolis carolinensis)
Reptilia C12orf55 33
  • 46 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490177 32
  • 55.66 (n)
(Danio rerio)
Actinopterygii LOC100536124 32
  • 49.11 (n)
C12orf55 33
  • 37 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 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)
Evolutionary constrained regions (ECRs) for CFAP54: view image

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 Variation AA Info Type
rs1000014607 -- 96,570,139(+) C/T intron_variant
rs1000017026 -- 96,705,048(+) A/T intron_variant
rs1000019277 -- 96,544,068(+) CTAAATC/C intron_variant
rs1000029484 -- 96,534,503(+) A/T intron_variant
rs1000041661 -- 96,841,623(+) A/G 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)

Additional Variant Information 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
  • pcd
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CFAP54

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 SE … Baylor College of Medicine Human Genome Sequencing Center Sequence Production Team (Nature 2006) 3 4 56
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  3. Quantitative mapping of RNA-mediated nuclear estrogen receptor β interactome in human breast cancer cells. (PMID: 29509190) Giurato G … Tarallo R (Scientific data 2018) 3 56
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 56
  5. Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women. (PMID: 20966902) Croteau-Chonka DC … Mohlke KL (Obesity (Silver Spring, Md.) 2011) 3 56

Products for CFAP54 Gene

Sources for CFAP54 Gene