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Aliases for CFAP43 Gene

Aliases for CFAP43 Gene

  • Cilia And Flagella Associated Protein 43 2 3 5
  • WD Repeat-Containing Protein 96 3 4
  • WD Repeat Domain 96 2 3
  • C10orf79 3 4
  • WDR96 3 4
  • Cilia- And Flagella-Associated Protein 43 3
  • WD Repeat-Containing Protein C10orf79 3
  • Chromosome 10 Open Reading Frame 79 2
  • BA373N18.2 3
  • SPGF19 3

External Ids for CFAP43 Gene

Previous HGNC Symbols for CFAP43 Gene

  • C10orf79
  • WDR96

Summaries for CFAP43 Gene

Entrez Gene Summary for CFAP43 Gene

  • This gene encodes a member of the cilia- and flagella-associated protein family. [provided by RefSeq, Sep 2016]

GeneCards Summary for CFAP43 Gene

CFAP43 (Cilia And Flagella Associated Protein 43) is a Protein Coding gene. Diseases associated with CFAP43 include Spermatogenic Failure 19 and Non-Syndromic Male Infertility Due To Sperm Motility Disorder.

Additional gene information for CFAP43 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 CFAP43 Gene

Genomics for CFAP43 Gene

Regulatory Elements for CFAP43 Gene

Enhancers for CFAP43 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
GH10H104109 1.6 FANTOM5 Ensembl ENCODE dbSUPER 8 +122.2 122212 1.6 HDAC1 PKNOX1 JUN CEBPB SIN3A EBF1 NR3C1 EP300 FOSL1 JUND SFR1 COL17A1 MIR936 STN1 CFAP43 GSTO1 CFAP58 SLK
GH10H104115 1.6 Ensembl ENCODE dbSUPER 7.6 +112.8 112831 8.3 HDGF PKNOX1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF207 ZNF143 MIR936 CFAP43 SFR1 COL17A1
GH10H104219 0.6 ENCODE 16.1 +12.1 12050 2.6 POLR2A HNF4G MAX HNF4A ZNF623 RARA TEAD3 CFAP43 MIR609
GH10H103848 1.9 FANTOM5 Ensembl ENCODE dbSUPER 4.7 +379.6 379584 7.6 PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 FOS SP3 SH3PXD2A ENSG00000260461 STN1 CFAP43 SH3PXD2A-AS1
GH10H104092 1.3 Ensembl ENCODE dbSUPER 6.4 +138.9 138856 2.5 JUN ZEB1 ZNF7 RFX5 FOSL1 HIC1 ZNF366 ZNF143 FOS ZNF639 MIR936 SFR1 CFAP43 COL17A1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CFAP43 on UCSC Golden Path with GeneCards custom track

Promoters for CFAP43 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000033014 -34 1600 FOXA2 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF143 ZNF207 FOS

Genomic Locations for CFAP43 Gene

Genomic Locations for CFAP43 Gene
102,479 bases
Minus strand

Genomic View for CFAP43 Gene

Genes around CFAP43 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFAP43 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CFAP43 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFAP43 Gene

Proteins for CFAP43 Gene

  • Protein details for CFAP43 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Cilia- and flagella-associated protein 43
    Protein Accession:
    Secondary Accessions:
    • Q8N9Z8
    • Q8NE17
    • Q9H085
    • Q9H5W3

    Protein attributes for CFAP43 Gene

    1665 amino acids
    Molecular mass:
    191984 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAC04133.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAB66835.1; Type=Frameshift; Positions=34, 625, 849, 1232, 1348, 1351, 1460, 1473, 1524, 1577; Evidence={ECO:0000305}; Sequence=CAI17220.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI17221.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI40457.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for CFAP43 Gene


neXtProt entry for CFAP43 Gene

Post-translational modifications for CFAP43 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CFAP43 Gene

Domains & Families for CFAP43 Gene

Gene Families for CFAP43 Gene

Protein Domains for CFAP43 Gene

Suggested Antigen Peptide Sequences for CFAP43 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the CFAP43 family.
  • Belongs to the CFAP43 family.
genes like me logo Genes that share domains with CFAP43: view

Function for CFAP43 Gene

Phenotypes From GWAS Catalog for CFAP43 Gene

genes like me logo Genes that share phenotypes with CFAP43: view

Animal Model Products

CRISPR Products

miRNA for CFAP43 Gene

miRTarBase miRNAs that target CFAP43

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CFAP43 Gene

Localization for CFAP43 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFAP43 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 CFAP43 gene
Compartment Confidence
nucleus 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CFAP43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with CFAP43: view

Pathways & Interactions for CFAP43 Gene

SuperPathways for CFAP43 Gene

No Data Available

Interacting Proteins for CFAP43 Gene

Selected Interacting proteins: Q8NDM7-CFA43_HUMAN for CFAP43 Gene via IID

Gene Ontology (GO) - Biological Process for CFAP43 Gene


No data available for Pathways by source and SIGNOR curated interactions for CFAP43 Gene

Drugs & Compounds for CFAP43 Gene

No Compound Related Data Available

Transcripts for CFAP43 Gene

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for CFAP43 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^
SP2: -
SP5: -

ExUns: 22a · 22b ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b ^ 28a · 28b ^ 29a · 29b ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36a · 36b ^ 37 ^ 38a · 38b
SP1: - - - -
SP3: - -

Relevant External Links for CFAP43 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CFAP43 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CFAP43 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CFAP43 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (40.3), Spinal cord (15.7), and Lung (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CFAP43 Gene

NURSA nuclear receptor signaling pathways regulating expression of CFAP43 Gene:

genes like me logo Genes that share expression patterns with CFAP43: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CFAP43 Gene

Orthologs for CFAP43 Gene

This gene was present in the common ancestor of animals.

Orthologs for CFAP43 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia WDR96 34 33
  • 99.56 (n)
(Canis familiaris)
Mammalia WDR96 33 34
  • 86.34 (n)
(Bos Taurus)
Mammalia WDR96 33 34
  • 85.72 (n)
(Rattus norvegicus)
Mammalia Wdr96 33
  • 78.07 (n)
(Mus musculus)
Mammalia Wdr96 34 33
  • 76.97 (n)
Cfap43 16
(Monodelphis domestica)
Mammalia -- 34
  • 59 (a)
-- 34
  • 52 (a)
-- 34
  • 49 (a)
(Ornithorhynchus anatinus)
Mammalia WDR96 34
  • 59 (a)
(Gallus gallus)
Aves WDR96 34 33
  • 58.99 (n)
(Anolis carolinensis)
Reptilia WDR96 34
  • 48 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia wdr96 33
  • 58.05 (n)
(Danio rerio)
Actinopterygii wdr96 33 34
  • 51.89 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003166 33
  • 38.05 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG17687 34
  • 17 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 39 (a)
Species where no ortholog for CFAP43 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 CFAP43 Gene

Gene Tree for CFAP43 (if available)
Gene Tree for CFAP43 (if available)

Paralogs for CFAP43 Gene

No data available for Paralogs for CFAP43 Gene

Variants for CFAP43 Gene

Sequence variations from dbSNP and Humsavar for CFAP43 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs193921081 Uncertain significance 104,185,106(-) GGGTC(A/G)TGGGA reference, missense, utr-variant-5-prime
rs1000000961 -- 104,170,899(+) TCCCA(C/T)CCACG intron-variant
rs1000041148 -- 104,171,203(+) GAAAT(A/G)TGTCT intron-variant
rs1000097070 -- 104,215,270(+) TGAAG(G/T)AAAAG intron-variant, upstream-variant-2KB
rs1000125507 -- 104,159,164(+) CGATA(C/G)AAGAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CFAP43 Gene

Variant ID Type Subtype PubMed ID
nsv948176 CNV duplication 23825009
nsv831971 CNV gain 17160897
nsv7533 CNV insertion 18451855

Variation tolerance for CFAP43 Gene

Residual Variation Intolerance Score: 73.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.29; 62.77% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CFAP43 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CFAP43 Gene

Disorders for CFAP43 Gene

MalaCards: The human disease database

(3) MalaCards diseases for CFAP43 Gene - From: OMIM, ClinVar, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
spermatogenic failure 19
non-syndromic male infertility due to sperm motility disorder
  • non-syndromic male infertility due asthenozoospermia
epithelial recurrent erosion dystrophy
  • recurrent erosion of cornea
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CFAP43

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CFAP43: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CFAP43 Gene

Publications for CFAP43 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 2 3 4 60
  2. 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
  3. Mutations in collagen, type XVII, alpha 1 (COL17A1) cause epithelial recurrent erosion dystrophy (ERED). (PMID: 25676728) Jonsson F … Golovleva I (Human mutation 2015) 4 60
  4. 14-3-3 epsilon dynamically interacts with key components of mitogen-activated protein kinase signal module for selective modulation of the TNF-alpha-induced time course-dependent NF-kappaB activity. (PMID: 20462248) Zuo S … Chen X (Journal of proteome research 2010) 3 60
  5. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PMID: 19913121) Talmud PJ … BRIGHT Consortium (American journal of human genetics 2009) 3 60

Products for CFAP43 Gene

Sources for CFAP43 Gene

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