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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. Gene Ontology (GO) annotations related to this gene include binding. An important paralog of this gene is EML5.

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

GeneHancer (GH) Regulatory Elements for CFAP44 Gene

Promoters and enhancers for CFAP44 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
GH03J113441 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 659.6 +3.6 3590 0.8 RFX1 NFIA ARID4B SIN3A ELF1 POLR2A RFX3 HNF4A CFAP44 MIR8076
GH03J112559 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 22.6 +883.6 883586 4.1 HDGF PKNOX1 CLOCK SMAD1 MLX ARNT ARID4B SIN3A DMAP1 YY1 SLC35A5 ATG3 NEPRO SPICE1 CFAP44 LOC101180897 BOC CCDC80 MIR567 C3orf52
GH03J113513 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 20.2 -69.8 -69842 2.3 ATF1 ARID4B SIN3A ZNF2 ZNF48 YY1 POLR2B E2F8 ELK1 ATF7 SPICE1 LOC101180897 CFAP44 NEPRO SIDT1-AS1 USF3 GC03P113463
GH03J113742 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 13.7 -301.1 -301106 8.5 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766 ATP6V1A NAA50 ENSG00000242659 SPICE1 QTRT2 NEPRO LOC101180897 CFAP44 BOC USF3
GH03J112990 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 9.9 +453.7 453661 2.6 HDGF SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 ZNF207 GTPBP8 CD200R1 ENSG00000272844 NEPRO USF3 SPICE1 CFAP44 PIR55468
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers 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
154,681 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

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFAP44

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:0031514 motile cilium IEA --
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

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

mRNA/cDNA for CFAP44 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFAP44

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 34 33
  • 98.94 (n)
(Canis familiaris)
Mammalia WDR52 34 33
  • 86.88 (n)
(Bos Taurus)
Mammalia WDR52 34 33
  • 85.85 (n)
(Mus musculus)
Mammalia Wdr52 34 33
  • 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 34 33
  • 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 34 33
  • 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)
Evolutionary constrained regions (ECRs) for CFAP44: view image

Paralogs for CFAP44 Gene

Paralogs for CFAP44 Gene

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

Variants for CFAP44 Gene

Sequence variations from dbSNP and Humsavar for CFAP44 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs780798708 pathogenic, SPERMATOGENIC FAILURE 20 113,380,945(-) AT/ coding_sequence_variant, frameshift, genic_upstream_transcript_variant, non_coding_transcript_variant, upstream_transcript_variant
rs1000057792 -- 113,313,708(-) A/C/T genic_downstream_transcript_variant, intron_variant
rs1000067093 -- 113,445,183(-) T/C 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant
rs1000108264 -- 113,368,406(-) A/G intron_variant
rs1000124400 -- 113,441,864(-) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_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)

Additional Variant Information for CFAP44 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 CFAP44 Gene

Disorders for CFAP44 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
spermatogenic failure 20
  • spgf20
non-syndromic male infertility due to sperm motility disorder
  • non-syndromic male infertility due asthenozoospermia
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CFAP44

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 58
  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 58
  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 58
  4. SPATA2 Links CYLD to LUBAC, Activates CYLD, and Controls LUBAC Signaling. (PMID: 27591049) Elliott PR … Gyrd-Hansen M (Molecular cell 2016) 3 58
  5. 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 58

Products for CFAP44 Gene

Sources for CFAP44 Gene

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