Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CFAP57 Gene

Aliases for CFAP57 Gene

  • Cilia And Flagella Associated Protein 57 2 3 5
  • WD Repeat-Containing Protein 65 3 4
  • WDR65 3 4
  • Cilia- And Flagella-Associated Protein 57 3
  • WD Repeat Domain 65 2
  • VWS2 3

External Ids for CFAP57 Gene

Previous HGNC Symbols for CFAP57 Gene

  • WDR65

Summaries for CFAP57 Gene

Entrez Gene Summary for CFAP57 Gene

  • This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member is thought to function in craniofacial development, possibly in the fusion of lip and palate. A missense mutation in this gene is associated with Van der Woude syndrome 2. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]

GeneCards Summary for CFAP57 Gene

CFAP57 (Cilia And Flagella Associated Protein 57) is a Protein Coding gene. Diseases associated with CFAP57 include Van Der Woude Syndrome 2 and Van Der Woude Syndrome 1.

Additional gene information for CFAP57 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CFAP57 Gene

Genomics for CFAP57 Gene

GeneHancer (GH) Regulatory Elements for CFAP57 Gene

Promoters and enhancers for CFAP57 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
GH01I043171 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 558.6 0.0 -49 1.8 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 POLR2B E2F8 ZNF207 ZNF143 CFAP57 MIR6733 EBNA1BP2 FAM183A
GH01I043231 Enhancer 0.8 Ensembl ENCODE 57.8 +60.4 60368 1.4 JUN USF2 MAX RFX5 FOSL1 MITF NFIC PRDM1 CFAP57 FAM183A ATP6V0B LOC105378685 GC01P043207 EBNA1BP2
GH01I043283 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 21 +113.1 113148 3.2 CTCF TFAP4 FOXA2 SIN3A RAD21 RARA ZNF121 POLR2A EGR1 VEZF1 C1orf210 CFAP57 SZT2 MPL ENSG00000229431 MED8 LOC105378687 CDC20 ELOVL1 TMEM125
GH01I043147 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 17.7 -24.2 -24248 1 HDAC1 PKNOX1 ARID4B NEUROD1 KLF17 SIN3A BMI1 RFX5 ETS1 ZNF335 FAM183A CFAP57 EBNA1BP2 GC01P043162
GH01I043270 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 10.9 +98.5 98530 2.1 BCOR PKNOX1 KLF1 MAX SIN3A ZMYM3 RFX5 CTBP1 ZNF316 POLR2A EBNA1BP2 TMEM125 CFAP57 C1orf210 KDM4A-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CFAP57 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CFAP57 Gene

Genomic Locations for CFAP57 Gene
82,210 bases
Plus strand

Genomic View for CFAP57 Gene

Genes around CFAP57 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFAP57 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CFAP57 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFAP57 Gene

Proteins for CFAP57 Gene

  • Protein details for CFAP57 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Cilia- and flagella-associated protein 57
    Protein Accession:
    Secondary Accessions:
    • A6NKQ3
    • Q17RI9
    • Q5TAI0

    Protein attributes for CFAP57 Gene

    1250 amino acids
    Molecular mass:
    144961 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CFAP57 Gene


neXtProt entry for CFAP57 Gene

Post-translational modifications for CFAP57 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CFAP57 Gene

Domains & Families for CFAP57 Gene

Gene Families for CFAP57 Gene

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

Suggested Antigen Peptide Sequences for CFAP57 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CFAP57: view

No data available for UniProtKB/Swiss-Prot for CFAP57 Gene

Function for CFAP57 Gene

Molecular function for CFAP57 Gene

UniProtKB/Swiss-Prot Induction:
May be an IRF6-target.

Phenotypes From GWAS Catalog for CFAP57 Gene

Phenotypes for CFAP57 Gene

GenomeRNAi human phenotypes for CFAP57:
genes like me logo Genes that share phenotypes with CFAP57: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone 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 CFAP57 Gene

Localization for CFAP57 Gene

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 CFAP57 gene
Compartment Confidence
cytosol 3
extracellular 2
plasma membrane 1
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CFAP57 Gene

Pathways & Interactions for CFAP57 Gene

SuperPathways for CFAP57 Gene

No Data Available

Interacting Proteins for CFAP57 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
Selected Interacting proteins: ENSP00000435310 Q96MR6-CFA57_HUMAN for CFAP57 Gene via STRING IID

Gene Ontology (GO) - Biological Process for CFAP57 Gene


No data available for Pathways by source and SIGNOR curated interactions for CFAP57 Gene

Drugs & Compounds for CFAP57 Gene

No Compound Related Data Available

Transcripts for CFAP57 Gene

mRNA/cDNA for CFAP57 Gene

(16) REFSEQ mRNAs :
(5) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CFAP57 Gene

No ASD Table

Relevant External Links for CFAP57 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CFAP57 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CFAP57 Gene

Protein differential expression in normal tissues from HIPED for CFAP57 Gene

This gene is overexpressed in Bone marrow stromal cell (58.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CFAP57 Gene

NURSA nuclear receptor signaling pathways regulating expression of CFAP57 Gene:


Evidence on tissue expression from TISSUES for CFAP57 Gene

  • Lung(2.4)
  • Blood(2.3)
genes like me logo Genes that share expression patterns with CFAP57: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CFAP57 Gene

Orthologs for CFAP57 Gene

This gene was present in the common ancestor of animals.

Orthologs for CFAP57 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia WDR65 33 34
  • 98.75 (n)
(Canis familiaris)
Mammalia WDR65 33 34
  • 89.35 (n)
(Rattus norvegicus)
Mammalia LOC679641 33
  • 85.17 (n)
(Mus musculus)
Mammalia Wdr65 33 34
  • 85.1 (n)
Cfap57 16
(Ornithorhynchus anatinus)
Mammalia WDR65 34
  • 69 (a)
(Bos Taurus)
Mammalia WDR65 34
  • 46 (a)
(Monodelphis domestica)
Mammalia WDR65 34
  • 42 (a)
(Gallus gallus)
Aves WDR65 33 34
  • 65.44 (n)
(Anolis carolinensis)
Reptilia WDR65 34
  • 35 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia wdr65 33
  • 68.14 (n)
(Danio rerio)
Actinopterygii wdr65 33 34
  • 61.18 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008095 33
  • 45.07 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4329 33 34
  • 44.49 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 31 (a)
Species where no ortholog for CFAP57 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 CFAP57 Gene

Gene Tree for CFAP57 (if available)
Gene Tree for CFAP57 (if available)

Paralogs for CFAP57 Gene

No data available for Paralogs for CFAP57 Gene

Variants for CFAP57 Gene

Sequence variations from dbSNP and Humsavar for CFAP57 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs387907122 uncertain-significance, Van der Woude syndrome 2 43,206,744(+) G/T coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs1000003008 -- 43,218,616(+) AGAGA/AGA genic_downstream_transcript_variant, intron_variant
rs1000039422 -- 43,207,593(+) G/A intron_variant
rs1000043393 -- 43,250,094(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000064956 -- 43,208,299(+) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CFAP57 Gene

Variant ID Type Subtype PubMed ID
dgv252n54 CNV loss 21841781
dgv253n54 CNV loss 21841781
dgv76n106 CNV deletion 24896259
esv2148585 CNV deletion 18987734
esv2565866 CNV deletion 19546169
esv2670515 CNV deletion 23128226
esv2747563 CNV deletion 23290073
esv27491 CNV loss 19812545
esv3561371 CNV deletion 23714750
esv3585863 CNV loss 21293372
esv3585864 CNV loss 21293372
nsv1070418 CNV deletion 25765185
nsv1119682 CNV deletion 24896259
nsv1148867 CNV insertion 26484159
nsv461383 CNV loss 19166990
nsv473567 CNV novel sequence insertion 20440878
nsv523115 CNV loss 19592680
nsv546112 CNV loss 21841781
nsv546113 CNV loss 21841781
nsv822464 CNV loss 20364138
nsv822476 CNV loss 20364138
nsv829693 CNV loss 17160897

Variation tolerance for CFAP57 Gene

Residual Variation Intolerance Score: 73% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.67; 82.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CFAP57 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 CFAP57 Gene

Disorders for CFAP57 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CFAP57 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
van der woude syndrome 2
  • vws2
van der woude syndrome 1
  • vws1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CFAP57

genes like me logo Genes that share disorders with CFAP57: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CFAP57 Gene

Publications for CFAP57 Gene

  1. Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome. (PMID: 21574244) Rorick NK … Schutte BC (American journal of medical genetics. Part A 2011) 2 3 4 58
  2. Transcriptional targeting in the airway using novel gene regulatory elements. (PMID: 22447971) Burnight ER … Sinn PL (American journal of respiratory cell and molecular biology 2012) 2 3 58
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. 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

Products for CFAP57 Gene

Sources for CFAP57 Gene

Loading form....