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Aliases for CFAP52 Gene

Aliases for CFAP52 Gene

  • Cilia And Flagella Associated Protein 52 2 3 5
  • WD40-Repeat Protein Up-Regulated In HCC 3 4
  • WD40-Repeat Protein Upregulated In HCC 2 3
  • WD Repeat-Containing Protein 16 3 4
  • WD Repeat Domain 16 2 3
  • WDRPUH 3 4
  • WDR16 3 4
  • Cilia- And Flagella-Associated Protein 52 3

External Ids for CFAP52 Gene

Previous HGNC Symbols for CFAP52 Gene

  • WDR16

Summaries for CFAP52 Gene

Entrez Gene Summary for CFAP52 Gene

  • WD repeat-containing proteins, such as WDR16, play crucial roles in a wide range of physiologic functions, including signal transduction, RNA processing, remodeling the cytoskeleton, regulation of vesicular traffic, and cell division (Silva et al., 2005 [PubMed 15967112]).[supplied by OMIM, Mar 2008]

GeneCards Summary for CFAP52 Gene

CFAP52 (Cilia And Flagella Associated Protein 52) is a Protein Coding gene. Diseases associated with CFAP52 include Dextrocardia With Situs Inversus. An important paralog of this gene is WDR90.

UniProtKB/Swiss-Prot for CFAP52 Gene

  • May play a role in cell growth and/or survival.

Additional gene information for CFAP52 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CFAP52 Gene

Genomics for CFAP52 Gene

GeneHancer (GH) Regulatory Elements for CFAP52 Gene

Promoters and enhancers for CFAP52 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I009574 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 -0.5 -510 2.6 MLX ARID4B SIN3A DMAP1 YY1 ZNF143 DEK SP3 SP5 ZHX2 STX8 CFAP52 ENSG00000271851
GH17I009643 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 10.6 +70.1 70140 5.9 PKNOX1 CLOCK FOXA2 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B USP43 ENSG00000265349 ENSG00000262296 CFAP52 STX8
GH17I009676 Enhancer 0.7 ENCODE 11.2 +100.7 100691 1.9 CTCF JUN BATF RAD21 FOSL1 NFE2 FOS FOSL2 RUNX3 STAT1 USP43 CFAP52 STX8 GC17P009688 ENSG00000262296
GH17I009451 Enhancer 0.5 FANTOM5 ENCODE 5.1 -124.2 -124242 1.1 USF1 ENSG00000225751 CFAP52 GC17P009447 ENSG00000262815 STX8
GH17I009227 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 1.3 -348.0 -347954 1.5 MEIS2 STAT1 SUZ12 ZNF316 EGR1 NFATC1 BCL6B MAFK NDEL1 NTN1 CFAP52 GC17M009219 LOC105371533
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CFAP52 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CFAP52 Gene

Genomic Locations for CFAP52 Gene
chr17:9,576,627-9,643,459
(GRCh38/hg38)
Size:
66,833 bases
Orientation:
Plus strand
chr17:9,479,944-9,546,776
(GRCh37/hg19)

Genomic View for CFAP52 Gene

Genes around CFAP52 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFAP52 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CFAP52 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFAP52 Gene

Proteins for CFAP52 Gene

  • Protein details for CFAP52 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N1V2-CFA52_HUMAN
    Recommended name:
    Cilia- and flagella-associated protein 52
    Protein Accession:
    Q8N1V2
    Secondary Accessions:
    • B2RDU7
    • Q5DX23
    • Q8TC73
    • Q8TCI3

    Protein attributes for CFAP52 Gene

    Size:
    620 amino acids
    Molecular mass:
    68298 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • May be a good candidate as a diagnostic marker for HCC as well as a potential molecular target for development of novel therapeutic drugs.
    SequenceCaution:
    • Sequence=BAB85083.1; Type=Frameshift; Positions=183; Evidence={ECO:0000305};

    Alternative splice isoforms for CFAP52 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CFAP52 Gene

Post-translational modifications for CFAP52 Gene

No Post-translational modifications

No data available for DME Specific Peptides for CFAP52 Gene

Domains & Families for CFAP52 Gene

Gene Families for CFAP52 Gene

Suggested Antigen Peptide Sequences for CFAP52 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N1V2

UniProtKB/Swiss-Prot:

CFA52_HUMAN :
  • Belongs to the CFAP52 family.
Family:
  • Belongs to the CFAP52 family.
genes like me logo Genes that share domains with CFAP52: view

Function for CFAP52 Gene

Molecular function for CFAP52 Gene

UniProtKB/Swiss-Prot Function:
May play a role in cell growth and/or survival.

Gene Ontology (GO) - Molecular Function for CFAP52 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15967112
genes like me logo Genes that share ontologies with CFAP52: view
genes like me logo Genes that share phenotypes with CFAP52: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CFAP52 Gene

Localization for CFAP52 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFAP52 Gene

Cytoplasm. Cell projection, cilium, flagellum.

Subcellular locations from

COMPARTMENTS
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 CFAP52 gene
Compartment Confidence
nucleus 3
cytosol 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for CFAP52 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with CFAP52: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CFAP52 Gene

Pathways & Interactions for CFAP52 Gene

SuperPathways for CFAP52 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CFAP52 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CFAP52 Gene

Drugs & Compounds for CFAP52 Gene

No Compound Related Data Available

Transcripts for CFAP52 Gene

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for CFAP52 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b
SP1:
SP2: -
SP3: - -

Relevant External Links for CFAP52 Gene

GeneLoc Exon Structure for
CFAP52
ECgene alternative splicing isoforms for
CFAP52

Expression for CFAP52 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CFAP52 Gene

Protein differential expression in normal tissues from HIPED for CFAP52 Gene

This gene is overexpressed in Testis (53.7) and Heart (15.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CFAP52 Gene



Protein tissue co-expression partners for CFAP52 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CFAP52 Gene:

CFAP52

mRNA Expression by UniProt/SwissProt for CFAP52 Gene:

Q8N1V2-CFA52_HUMAN
Tissue specificity: Highly expressed in testis. Up-regulated in hepatocellular carcinoma (HCC).

Evidence on tissue expression from TISSUES for CFAP52 Gene

  • Lung(4.2)
  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with CFAP52: 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 Phenotype-based relationships between genes and organs from Gene ORGANizer for CFAP52 Gene

Orthologs for CFAP52 Gene

This gene was present in the common ancestor of animals.

Orthologs for CFAP52 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia WDR16 33 34
  • 96.81 (n)
dog
(Canis familiaris)
Mammalia WDR16 33 34
  • 88.33 (n)
cow
(Bos Taurus)
Mammalia WDR16 33 34
  • 87.37 (n)
mouse
(Mus musculus)
Mammalia Wdr16 33 34
  • 86.18 (n)
Cfap52 16
rat
(Rattus norvegicus)
Mammalia Wdr16 33
  • 85.91 (n)
oppossum
(Monodelphis domestica)
Mammalia WDR16 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WDR16 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves WDR16 33 34
  • 71.96 (n)
lizard
(Anolis carolinensis)
Reptilia WDR16 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wdr16 33
  • 68.73 (n)
zebrafish
(Danio rerio)
Actinopterygii wdr16 33 34
  • 66.78 (n)
wufj15f10 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005915 33
  • 50.14 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG10064 33 34
  • 50.11 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7321 34
  • 64 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5015 33
Species where no ortholog for CFAP52 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 CFAP52 Gene

ENSEMBL:
Gene Tree for CFAP52 (if available)
TreeFam:
Gene Tree for CFAP52 (if available)

Paralogs for CFAP52 Gene

Paralogs for CFAP52 Gene

genes like me logo Genes that share paralogs with CFAP52: view

Variants for CFAP52 Gene

Sequence variations from dbSNP and Humsavar for CFAP52 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000013951 -- 9,636,182(+) A/C intron_variant
rs1000186986 -- 9,622,057(+) T/C intron_variant
rs1000195474 -- 9,577,001(+) G/A intron_variant
rs1000222139 -- 9,598,923(+) C/T intron_variant
rs1000244715 -- 9,629,066(+) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CFAP52 Gene

Variant ID Type Subtype PubMed ID
esv3582515 CNV loss 25503493
nsv1115517 CNV duplication 24896259
nsv1975 CNV insertion 18451855
nsv7289 OTHER inversion 18451855
nsv833357 CNV loss 17160897

Variation tolerance for CFAP52 Gene

Residual Variation Intolerance Score: 52.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.08; 37.99% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CFAP52 Gene

Human Gene Mutation Database (HGMD)
CFAP52
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CFAP52

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CFAP52 Gene

Disorders for CFAP52 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CFAP52 Gene - From: Orphanet

Disorder Aliases PubMed IDs
dextrocardia with situs inversus
  • situs inversus
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CFAP52

genes like me logo Genes that share disorders with CFAP52: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CFAP52 Gene

Publications for CFAP52 Gene

  1. WDRPUH, a novel WD-repeat-containing protein, is highly expressed in human hepatocellular carcinoma and involved in cell proliferation. (PMID: 15967112) Silva FP … Furukawa Y (Neoplasia (New York, N.Y.) 2005) 2 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. 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
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. Toward a confocal subcellular atlas of the human proteome. (PMID: 18029348) Barbe L … Andersson-Svahn H (Molecular & cellular proteomics : MCP 2008) 3 58

Products for CFAP52 Gene

Sources for CFAP52 Gene

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