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Aliases for CFAP44 Gene

Aliases for CFAP44 Gene

  • Cilia And Flagella Associated Protein 44 2 3 5
  • WD Repeat-Containing Protein 52 3 4
  • WD Repeat Domain 52 2 3
  • WDR52 3 4
  • Cilia- And Flagella-Associated Protein 44 3
  • SPGF20 3

External Ids for CFAP44 Gene

Previous HGNC Symbols for CFAP44 Gene

  • WDR52

Summaries for CFAP44 Gene

GeneCards Summary for CFAP44 Gene

CFAP44 (Cilia And Flagella Associated Protein 44) is a Protein Coding gene. Diseases associated with CFAP44 include Spermatogenic Failure 20 and Non-Syndromic Male Infertility Due To Sperm Motility Disorder. GO annotations related to this gene include binding.

Additional gene information for CFAP44 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CFAP44 Gene

Genomics for CFAP44 Gene

Regulatory Elements for CFAP44 Gene

Enhancers for CFAP44 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
GH03H113513 1 ENCODE 20.2 -69.8 -69834 2.3 ATF1 ARID4B SIN3A ZNF2 YY1 ELK1 ATF7 RUNX3 SP3 SP5 LOC101180897 CFAP44 NEPRO SIDT1-AS1 USF3 SPICE1 GC03P113463
GH03H113742 1.4 ENCODE dbSUPER 13.7 -301.1 -301106 8.5 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766 ZNF143 NEPRO SPICE1 LOC101180897 CFAP44 BOC QTRT2 USF3 ATP6V1A NAA50 ENSG00000239280
GH03H112559 1.1 ENCODE 13.7 +883.6 883586 4.1 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF143 SLC35A5 NEPRO SPICE1 LOC101180897 CFAP44 BOC CCDC80 MIR567 C3orf52 ENSG00000279349
GH03H112670 1.5 FANTOM5 Ensembl ENCODE dbSUPER 9.9 +772.7 772677 4.6 KLF1 CEBPB FEZF1 ZNF384 NR3C1 EP300 NFIC JUND POLR2A ZNF585B NEPRO CFAP44 CCDC80 SLC35A5 GC03M112647 GC03P112695
GH03H112615 1 ENCODE dbSUPER 13.7 +829.4 829355 1.1 BACH1 ZNF175 PYGO2 ZNF644 RELA IRF9 DIDO1 NFE2 ZNF639 RFX1 NEPRO SPICE1 LOC101180897 CFAP44 BOC CCDC80 LINC01279
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CFAP44 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CFAP44 Gene

Genomic Locations for CFAP44 Gene
158,261 bases
Minus strand

Genomic View for CFAP44 Gene

Genes around CFAP44 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFAP44 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CFAP44 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFAP44 Gene

Proteins for CFAP44 Gene

  • Protein details for CFAP44 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Cilia- and flagella-associated protein 44
    Protein Accession:

    Protein attributes for CFAP44 Gene

    982 amino acids
    Molecular mass:
    111729 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CFAP44 Gene


neXtProt entry for CFAP44 Gene

Post-translational modifications for CFAP44 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CFAP44 Gene

Domains & Families for CFAP44 Gene

Gene Families for CFAP44 Gene

Protein Domains for CFAP44 Gene

Suggested Antigen Peptide Sequences for CFAP44 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the CFAP44 family.
  • Belongs to the CFAP44 family.
genes like me logo Genes that share domains with CFAP44: view

Function for CFAP44 Gene

Phenotypes From GWAS Catalog for CFAP44 Gene

genes like me logo Genes that share phenotypes with CFAP44: view

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CFAP44 Gene

Localization for CFAP44 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFAP44 Gene

Cell projection, cilium, flagellum.

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 CFAP44 gene
Compartment Confidence
nucleus 3
cytosol 1

Gene Ontology (GO) - Cellular Components for CFAP44 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with CFAP44: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CFAP44 Gene

Pathways & Interactions for CFAP44 Gene

SuperPathways for CFAP44 Gene

No Data Available

Interacting Proteins for CFAP44 Gene

Selected Interacting proteins: Q96MT7-CFA44_HUMAN for CFAP44 Gene via IID

Gene Ontology (GO) - Biological Process for CFAP44 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0060285 cilium-dependent cell motility IBA --
genes like me logo Genes that share ontologies with CFAP44: view

No data available for Pathways by source and SIGNOR curated interactions for CFAP44 Gene

Drugs & Compounds for CFAP44 Gene

(1) Drugs for CFAP44 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
hmg coa reductase inhibitors Pharma 0
genes like me logo Genes that share compounds with CFAP44: view

Transcripts for CFAP44 Gene

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CFAP44 Gene

No ASD Table

Relevant External Links for CFAP44 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CFAP44 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CFAP44 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CFAP44 Gene

This gene is overexpressed in Platelet (51.6) and Plasma (14.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CFAP44 Gene

Protein tissue co-expression partners for CFAP44 Gene

NURSA nuclear receptor signaling pathways regulating expression of CFAP44 Gene:

genes like me logo Genes that share expression patterns with CFAP44: view

Primer Products

No data available for 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 CFAP44 Gene

Orthologs for CFAP44 Gene

This gene was present in the common ancestor of animals.

Orthologs for CFAP44 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia WDR52 33 34
  • 98.94 (n)
(Canis familiaris)
Mammalia WDR52 33 34
  • 86.88 (n)
(Bos Taurus)
Mammalia WDR52 33 34
  • 85.85 (n)
(Mus musculus)
Mammalia Wdr52 33 34
  • 79.1 (n)
Cfap44 16
(Rattus norvegicus)
Mammalia Wdr52 33
  • 78.53 (n)
(Monodelphis domestica)
Mammalia WDR52 34
  • 63 (a)
(Ornithorhynchus anatinus)
Mammalia WDR52 34
  • 63 (a)
(Gallus gallus)
Aves WDR52 33 34
  • 62.95 (n)
(Anolis carolinensis)
Reptilia -- 34
  • 61 (a)
-- 34
  • 57 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497083 33
  • 58.04 (n)
(Danio rerio)
Actinopterygii WDR52 34
  • 39 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006735 33
  • 43.68 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG34124 33 34
  • 43.45 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 44 (a)
Species where no ortholog for CFAP44 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 CFAP44 Gene

Gene Tree for CFAP44 (if available)
Gene Tree for CFAP44 (if available)

Paralogs for CFAP44 Gene

No data available for Paralogs for CFAP44 Gene

Variants for CFAP44 Gene

Sequence variations from dbSNP and Humsavar for CFAP44 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1000057792 -- 113,313,708(+) ACAAG(A/T)TCTAA intron-variant
rs1000067093 -- 113,445,183(+) TTCAT(C/T)AGTAC intron-variant, nc-transcript-variant, utr-variant-3-prime, utr-variant-5-prime
rs1000108264 -- 113,368,406(+) ACCCT(A/G)CAAGC intron-variant
rs1000124400 -- 113,441,864(+) GGCAA(C/T)ATCAA intron-variant, upstream-variant-2KB
rs1000128218 -- 113,398,899(+) GTATG(C/G)GGCTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CFAP44 Gene

Variant ID Type Subtype PubMed ID
esv2129010 CNV deletion 18987734
esv2665348 CNV deletion 23128226
esv2667519 CNV deletion 23128226
esv2725780 CNV deletion 23290073
esv3424891 CNV insertion 20981092
esv3562397 CNV deletion 23714750
esv3562398 CNV deletion 23714750
esv3597434 CNV loss 21293372
esv3597437 CNV loss 21293372
nsv1013506 CNV gain 25217958
nsv237142 CNV deletion 16902084
nsv521829 CNV loss 19592680
nsv591293 CNV loss 21841781
nsv822221 CNV loss 20364138
nsv829677 CNV gain 17160897
nsv979867 CNV duplication 23825009

Variation tolerance for CFAP44 Gene

Residual Variation Intolerance Score: 74.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.89; 96.76% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CFAP44 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CFAP44 Gene

Disorders for CFAP44 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CFAP44 Gene - From: OMIM, ClinVar, and Orphanet

Disorder Aliases PubMed IDs
spermatogenic failure 20
non-syndromic male infertility due to sperm motility disorder
  • non-syndromic male infertility due asthenozoospermia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CFAP44

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CFAP44: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CFAP44 Gene

Publications for CFAP44 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 60
  3. Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella. (PMID: 28552195) Tang S … Zhang F (American journal of human genetics 2017) 3 60
  4. Kelch Domain of Gigaxonin Interacts with Intermediate Filament Proteins Affected in Giant Axonal Neuropathy. (PMID: 26460568) Johnson-Kerner BL … Wichterle H (PloS one 2015) 3 60
  5. The rs13064411 polymorphism in the WDR52 gene, associated with PCSK9 levels, modifies statin-induced changes in serum total and LDL cholesterol levels. (PMID: 25602530) de Keyser CE … Stricker BH (Pharmacogenetics and genomics 2015) 3 60

Products for CFAP44 Gene

Sources for CFAP44 Gene

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