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Aliases for CFAP57 Gene

Aliases for CFAP57 Gene

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

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

Genomics for CFAP57 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CFAP57 Gene

Chromosome:
1
Start:
43,172,149 bp from pter
End:
43,254,358 bp from pter
Size:
82,210 bases
Orientation:
Plus strand

Genomic View for CFAP57 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CFAP57 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFAP57 Gene

No data available for Regulatory Elements for CFAP57 Gene

Proteins for CFAP57 Gene

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

    Protein Symbol:
    Q96MR6-CFA57_HUMAN
    Recommended name:
    Cilia- and flagella-associated protein 57
    Protein Accession:
    Q96MR6
    Secondary Accessions:
    • A6NKQ3
    • Q17RI9
    • Q5TAI0

    Protein attributes for CFAP57 Gene

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

    Alternative splice isoforms for CFAP57 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CFAP57 Gene

Proteomics data for CFAP57 Gene at MOPED

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

Protein Domains for CFAP57 Gene

Suggested Antigen Peptide Sequences for CFAP57 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96MR6

UniProtKB/Swiss-Prot:

CFA57_HUMAN :
  • Contains 10 WD repeats.
Similarity:
  • Contains 10 WD repeats.
genes like me logo Genes that share domains with CFAP57: view

Function for CFAP57 Gene

Molecular function for CFAP57 Gene

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

Gene Ontology (GO) - Molecular Function for CFAP57 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with CFAP57: view

Phenotypes for CFAP57 Gene

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

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CFAP57 Gene

Localization for CFAP57 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS 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 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000435310%0d%0a9606.ENSP00000306245%0d%0a9606.ENSP00000247668%0d%0a
Selected Interacting proteins: ENSP00000435310 for CFAP57 Gene via STRING

Gene Ontology (GO) - Biological Process for CFAP57 Gene

None

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

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

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

No ASD Table

Relevant External Links for CFAP57 Gene

GeneLoc Exon Structure for
CFAP57
ECgene alternative splicing isoforms for
CFAP57

Expression for CFAP57 Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for CFAP57 Gene



genes like me logo Genes that share expression patterns with CFAP57: view

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

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 and Protein tissue co-expression partners 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
dog
(Canis familiaris)
Mammalia WDR65 35
  • 89.35 (n)
  • 90.8 (a)
WDR65 36
  • 46 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Wdr65 35
  • 85.1 (n)
  • 87.74 (a)
Wdr65 16
Wdr65 36
  • 44 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia WDR65 35
  • 98.75 (n)
  • 98.37 (a)
WDR65 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC679641 35
  • 85.17 (n)
  • 85.52 (a)
cow
(Bos Taurus)
Mammalia WDR65 36
  • 46 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia WDR65 36
  • 42 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WDR65 36
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves WDR65 35
  • 65.44 (n)
  • 58.82 (a)
WDR65 36
  • 29 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia WDR65 36
  • 35 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wdr65 35
  • 68.14 (n)
  • 69.07 (a)
zebrafish
(Danio rerio)
Actinopterygii wdr65 35
  • 61.18 (n)
  • 55.58 (a)
wdr65 36
  • 33 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008095 35
  • 45.07 (n)
  • 32.62 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG4329 35
  • 44.49 (n)
  • 29.14 (a)
CG4329 36
  • 15 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 31 (a)
OneToOne
Species with no ortholog for CFAP57:
  • 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

ENSEMBL:
Gene Tree for CFAP57 (if available)
TreeFam:
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 Sequence Context AA Info Type MAF
rs491497 -- 43,253,699(+) CATGG(G/T)TGGGG intron-variant
rs586904 -- 43,179,339(+) AGAGG(C/T)GAGGC intron-variant
rs606655 -- 43,178,706(+) TTCAA(C/G)CATTG intron-variant
rs621559 -- 43,179,740(+) CCTCC(A/G)TACCC intron-variant
rs683113 -- 43,179,026(+) aaact(A/G)tcgca intron-variant

Variation tolerance for CFAP57 Gene

Residual Variation Intolerance Score: 73.05% 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)

Relevant External Links for CFAP57 Gene

HapMap Linkage Disequilibrium report
CFAP57

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CFAP57 Gene

Disorders for CFAP57 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
van der woude syndrome 2
  • vws2
van der woude syndrome
  • myopathy, actin, congenital, with excess of thin myofilaments
- elite association

Relevant External Links for CFAP57

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. Transcriptional targeting in the airway using novel gene regulatory elements. (PMID: 22447971) Burnight E.R. … Sinn P.L. (Am. J. Respir. Cell Mol. Biol. 2012) 2 67
  2. Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome. (PMID: 21574244) Rorick N.K. … Schutte B.C. (Am. J. Med. Genet. A 2011) 2 67
  3. Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2. (PMID: 24322204) Winham S.J. … Biernacka J.M. (Mol. Psychiatry 2013) 67
  4. A genome-wide association study identifies a locus on chromosome 14q21 as a predictor of leukocyte telomere length and as a marker of susceptibility for bladder cancer. (PMID: 21460395) Gu J. … Wu X. (Cancer Prev Res (Phila) 2011) 67
  5. Toward a confocal subcellular atlas of the human proteome. (PMID: 18029348) Barbe L. … Andersson-Svahn H. (Mol. Cell Proteomics 2008) 67

Products for CFAP57 Gene

Sources for CFAP57 Gene

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