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

Aliases for CFAP43 Gene

Aliases for CFAP43 Gene

  • Cilia And Flagella Associated Protein 43 2 3 5
  • Cilia- And Flagella-Associated Protein 43 3 4
  • WD Repeat-Containing Protein 96 3 4
  • WD Repeat Domain 96 2 3
  • C10orf79 3 4
  • WDR96 3 4
  • 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 Hydrocephalus, Normal-Pressure, 1.

UniProtKB/Swiss-Prot Summary for CFAP43 Gene

  • Flagellar protein involved in sperm flagellum axoneme organization and function.

Additional gene information for CFAP43 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CFAP43 Gene

Genomics for CFAP43 Gene

GeneHancer (GH) Regulatory Elements for CFAP43 Gene

Promoters and enhancers for CFAP43 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
GH10J104267 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.3 -36.3 -36299 3.1 ZBTB40 ZNF217 EP300 SIN3A USF1 SP1 PHF8 ZFX REST POLR2A GSTO2 MIR4482 lnc-CFAP43-4 CFAP43 GSTO1 PDCD11 PCGF6 CFAP58 CFAP58-DT
GH10J104231 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 515.7 +0.2 165 2 HNRNPK ZBTB40 EP300 SIN3A NRF1 SP1 NCOR1 PHF8 FOS ZFX CFAP43 GSTO1 GSTO2 MIR609
GH10J104115 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 7.6 +112.8 112830 8.3 FOXK2 ZBTB40 EP300 CTCF ZSCAN5C SIN3A NRF1 TCF12 POLR2G USF1 SFR1 MIR936 CFAP43 lnc-CFAP43-5 RF00017-796
GH10J104219 Enhancer 0.7 Ensembl ENCODE 16.1 +12.4 12350 3.2 ZNF623 ZFP36 RARA POLR2A HNF4A TEAD3 BHLHE40 MAX SPI1 HNF4G MIR609 CFAP43 COL17A1
GH10J104080 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 6.3 +148.7 148678 6.7 CTCF ZSCAN5C ZNF10 ZIC2 POLR2A OSR2 BCL11A WT1 ZBTB17 TCF7L2 COL17A1 CFAP43 CFAP58 lnc-CFAP43-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CFAP43 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CFAP43

Genomic Locations for CFAP43 Gene

Genomic Locations for CFAP43 Gene
chr10:104,129,888-104,232,366
(GRCh38/hg38)
Size:
102,479 bases
Orientation:
Minus strand
chr10:105,889,646-105,992,120
(GRCh37/hg19)
Size:
102,475 bases
Orientation:
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:
    Q8NDM7-CFA43_HUMAN
    Recommended name:
    Cilia- and flagella-associated protein 43
    Protein Accession:
    Q8NDM7
    Secondary Accessions:
    • Q8N9Z8
    • Q8NE17
    • Q9H085
    • Q9H5W3

    Protein attributes for CFAP43 Gene

    Size:
    1665 amino acids
    Molecular mass:
    191984 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC04133.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAB66835.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for CFAP43 Gene

    UniProtKB/Swiss-Prot:

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:
  • WD repeat-containing protein 96 (WDR96_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NDM7

UniProtKB/Swiss-Prot:

CFA43_HUMAN :
  • Belongs to the CFAP43 family.
Family:
  • Belongs to the CFAP43 family.
genes like me logo Genes that share domains with CFAP43: view

Function for CFAP43 Gene

Molecular function for CFAP43 Gene

UniProtKB/Swiss-Prot Function:
Flagellar protein involved in sperm flagellum axoneme organization and function.

Phenotypes From GWAS Catalog for CFAP43 Gene

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

Human Phenotype Ontology for CFAP43 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for CFAP43 Gene

miRTarBase miRNAs that target CFAP43

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFAP43

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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. Cytoplasm, cytoskeleton, flagellum axoneme.

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 CFAP43 gene
Compartment Confidence
cytoskeleton 4
nucleus 2
cytosol 2

Gene Ontology (GO) - Cellular Components for CFAP43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005929 cilium IEA --
GO:0005930 axoneme ISS --
GO:0031514 motile cilium IEA --
genes like me logo Genes that share ontologies with CFAP43: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CFAP43 Gene

Pathways & Interactions for CFAP43 Gene

PathCards logo

SuperPathways for CFAP43 Gene

No Data Available

Interacting Proteins for CFAP43 Gene

;

Gene Ontology (GO) - Biological Process for CFAP43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007288 sperm axoneme assembly ISS,IEA --
GO:0030030 cell projection organization IEA --
GO:1905419 sperm flagellum movement involved in flagellated sperm motility IEA --
genes like me logo Genes that share ontologies with CFAP43: view

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

mRNA/cDNA for CFAP43 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFAP43

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 ^
SP1:
SP2: -
SP3:
SP4:
SP5: -
SP6:
SP7:

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: - - - -
SP2:
SP3: - -
SP4:
SP5:
SP6:
SP7:

Relevant External Links for CFAP43 Gene

GeneLoc Exon Structure for
CFAP43

Expression for CFAP43 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CFAP43

mRNA Expression by UniProt/SwissProt for CFAP43 Gene:

Q8NDM7-CFA43_HUMAN
Tissue specificity: Testis-specific.
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 , 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
chimpanzee
(Pan troglodytes)
Mammalia WDR96 31 30
  • 99.56 (n)
OneToOne
dog
(Canis familiaris)
Mammalia WDR96 31 30
  • 86.34 (n)
OneToOne
cow
(Bos Taurus)
Mammalia WDR96 31 30
  • 85.72 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Wdr96 30
  • 78.07 (n)
mouse
(Mus musculus)
Mammalia Wdr96 31 30
  • 76.97 (n)
OneToOne
Cfap43 17
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 59 (a)
OneToMany
-- 31
  • 52 (a)
OneToMany
-- 31
  • 49 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia WDR96 31
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves WDR96 31 30
  • 58.99 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia WDR96 31
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wdr96 30
  • 58.05 (n)
zebrafish
(Danio rerio)
Actinopterygii wdr96 31 30
  • 51.89 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003166 30
  • 38.05 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG17687 31
  • 17 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 39 (a)
OneToOne
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

ENSEMBL:
Gene Tree for CFAP43 (if available)
TreeFam:
Gene Tree for CFAP43 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CFAP43: view image

Paralogs for CFAP43 Gene

No data available for Paralogs for CFAP43 Gene

Variants for CFAP43 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CFAP43 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
430937 Pathogenic: SPERMATOGENIC FAILURE 19 104,140,589(-) TGAGCTCAGGAGTTTG SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT
708135 Benign: not provided 104,207,673(-) G/A MISSENSE_VARIANT
708370 Benign: not provided 104,166,556(-) A/C MISSENSE_VARIANT
709932 Benign: not provided 104,132,169(-) G/C MISSENSE_VARIANT
710445 Benign: not provided 104,185,057(-) C/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for CFAP43 Gene

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

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

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)

Additional Variant Information for CFAP43 Gene

Human Gene Mutation Database (HGMD)
CFAP43
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CFAP43

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

Disorders for CFAP43 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
spermatogenic failure 19
  • spgf19
hydrocephalus, normal-pressure, 1
  • hydnp1
normal pressure hydrocephalus
  • low pressure hydrocephalus
non-syndromic male infertility due to sperm motility disorder
  • non-syndromic male infertility due asthenozoospermia
epithelial recurrent erosion dystrophy
  • ered
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CFA43_HUMAN
  • Spermatogenic failure 19 (SPGF19) [MIM:617592]: An infertility disorder caused by spermatogenesis defects and characterized by abnormally shaped spermatozoa in the semen of affected individuals. SPGF19 patients have spermatozoa with absent, short, coiled, bent, and/or irregular-caliber flagella, which impair sperm motility. {ECO:0000269 PubMed:28552195, ECO:0000269 PubMed:29449551}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CFAP43

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

No data available for 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 54
  2. Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human. (PMID: 29449551) Coutton C … Ray PF (Nature communications 2018) 3 4 54
  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 4 54
  4. Novel Mutations in CFAP44 and CFAP43 Cause Multiple Morphological Abnormalities of the Sperm Flagella (MMAF). (PMID: 29277146) Sha YW … Li L (Reproductive sciences (Thousand Oaks, Calif.) 2019) 3 54
  5. Mutations in collagen, type XVII, alpha 1 (COL17A1) cause epithelial recurrent erosion dystrophy (ERED). (PMID: 25676728) Jonsson F … Golovleva I (Human mutation 2015) 4 54

Products for CFAP43 Gene

Sources for CFAP43 Gene