Aliases for CFAP70 Gene

Aliases for CFAP70 Gene

  • Cilia And Flagella Associated Protein 70 2 3 5
  • Cilia- And Flagella-Associated Protein 70 3 4
  • Tetratricopeptide Repeat Protein 18 3 4
  • Tetratricopeptide Repeat Domain 18 2 3
  • TPR Repeat Protein 18 3 4
  • TTC18 3 4
  • Tetratricopeptide Repeat-Containing Protein (LOC118491) 3
  • FLJ25765 2
  • SPGF41 3
  • CFAP70 5

External Ids for CFAP70 Gene

Previous HGNC Symbols for CFAP70 Gene

  • TTC18

Summaries for CFAP70 Gene

GeneCards Summary for CFAP70 Gene

CFAP70 (Cilia And Flagella Associated Protein 70) is a Protein Coding gene. Diseases associated with CFAP70 include Spermatogenic Failure 41 and Non-Syndromic Male Infertility Due To Sperm Motility Disorder. An important paralog of this gene is TMTC2.

UniProtKB/Swiss-Prot Summary for CFAP70 Gene

  • Axoneme-binding protein that plays a role in the regulation of ciliary motility and cilium length.

Additional gene information for CFAP70 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CFAP70 Gene

Genomics for CFAP70 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CFAP70 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CFAP70 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CFAP70

Genomic Locations for CFAP70 Gene

Genomic Locations for CFAP70 Gene
chr10:73,253,758-73,361,064
(GRCh38/hg38)
Size:
107,307 bases
Orientation:
Minus strand
chr10:75,013,516-75,118,617
(GRCh37/hg19)
Size:
105,102 bases
Orientation:
Minus strand

Genomic View for CFAP70 Gene

Genes around CFAP70 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFAP70 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CFAP70 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFAP70 Gene

Proteins for CFAP70 Gene

  • Protein details for CFAP70 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T0N1-CFA70_HUMAN
    Recommended name:
    Cilia- and flagella-associated protein 70
    Protein Accession:
    Q5T0N1
    Secondary Accessions:
    • C9JIZ9
    • Q5T0M4
    • Q5T0M9
    • Q5T0N0
    • Q69YH9
    • Q8IYZ8
    • Q8N7D5
    • Q8NI30
    • Q8NI31

    Protein attributes for CFAP70 Gene

    Size:
    1121 amino acids
    Molecular mass:
    125721 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAM20909.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAM20910.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAC05358.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for CFAP70 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CFAP70 Gene

Post-translational modifications for CFAP70 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CFAP70 Gene

Domains & Families for CFAP70 Gene

Gene Families for CFAP70 Gene

Protein Domains for CFAP70 Gene

Suggested Antigen Peptide Sequences for CFAP70 Gene

GenScript: Design optimal peptide antigens:
  • Tetratricopeptide repeat protein 18 (TTC18_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5T0N1

UniProtKB/Swiss-Prot:

CFA70_HUMAN :
  • The conserved TPR domains are dispensable for ciliary targeting. The N-terminal half is important for cilary localization and/or binding to the axoneme.
  • Belongs to the CFAP70 family.
Domain:
  • The conserved TPR domains are dispensable for ciliary targeting. The N-terminal half is important for cilary localization and/or binding to the axoneme.
Family:
  • Belongs to the CFAP70 family.
genes like me logo Genes that share domains with CFAP70: view

Function for CFAP70 Gene

Molecular function for CFAP70 Gene

UniProtKB/Swiss-Prot Function:
Axoneme-binding protein that plays a role in the regulation of ciliary motility and cilium length.

Phenotypes From GWAS Catalog for CFAP70 Gene

Gene Ontology (GO) - Molecular Function for CFAP70 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with CFAP70: view
genes like me logo Genes that share phenotypes with CFAP70: view

Animal Model Products

CRISPR Products

miRNA for CFAP70 Gene

miRTarBase miRNAs that target CFAP70

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFAP70

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CFAP70 Gene

Localization for CFAP70 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFAP70 Gene

Cell projection, cilium, flagellum. Cytoplasm, cytoskeleton, flagellum basal body. Cell projection, cilium. Cytoplasm, cytoskeleton, cilium axoneme. Note=Present all along the flagellum, with a marked signal at the base of the flagellum. {ECO:0000269 PubMed:31621862}.

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 CFAP70 gene
Compartment Confidence
cytoskeleton 5
extracellular 4
cytosol 2
nucleus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for CFAP70 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005929 cilium IEA --
GO:0005930 axoneme IEA,ISS --
GO:0031514 motile cilium IEA --
GO:0036064 ciliary basal body IDA 31621862
GO:0036126 sperm flagellum IEA,IDA 31621862
genes like me logo Genes that share ontologies with CFAP70: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CFAP70 Gene

Pathways & Interactions for CFAP70 Gene

PathCards logo

SuperPathways for CFAP70 Gene

No Data Available

Interacting Proteins for CFAP70 Gene

Gene Ontology (GO) - Biological Process for CFAP70 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003341 cilium movement IEA,ISS --
GO:0008150 biological_process ND --
GO:0060271 cilium assembly IEA,ISS --
genes like me logo Genes that share ontologies with CFAP70: view

No data available for Pathways by source and SIGNOR curated interactions for CFAP70 Gene

Drugs & Compounds for CFAP70 Gene

No Compound Related Data Available

Transcripts for CFAP70 Gene

mRNA/cDNA for CFAP70 Gene

4 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
8 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 CFAP70

Alternative Splicing Database (ASD) splice patterns (SP) for CFAP70 Gene

No ASD Table

Relevant External Links for CFAP70 Gene

GeneLoc Exon Structure for
CFAP70

Expression for CFAP70 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CFAP70 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CFAP70 Gene

This gene is overexpressed in Plasma (49.2), Monocytes (10.5), and Heart (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CFAP70 Gene



Protein tissue co-expression partners for CFAP70 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CFAP70

mRNA Expression by UniProt/SwissProt for CFAP70 Gene:

Q5T0N1-CFA70_HUMAN
Tissue specificity: Expressed in testis.

Evidence on tissue expression from TISSUES for CFAP70 Gene

  • Lung(2.3)
genes like me logo Genes that share expression patterns with CFAP70: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CFAP70 Gene

Orthologs for CFAP70 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CFAP70 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TTC18 30 31
  • 99.7 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TTC18 30 31
  • 90.83 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TTC18 30
  • 88.54 (n)
Mouse
(Mus musculus)
Mammalia Ttc18 30 31
  • 81.62 (n)
OneToOne
Cfap70 17
Rat
(Rattus norvegicus)
Mammalia Ttc18 30
  • 80.91 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 73 (a)
OneToMany
-- 31
  • 70 (a)
OneToMany
-- 31
  • 66 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia TTC18 31
  • 70 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TTC18 30 31
  • 64.93 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TTC18 31
  • 63 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ttc18 30
  • 61.3 (n)
Str.13839 30
Zebrafish
(Danio rerio)
Actinopterygii si:dkey-254e1.1 30
  • 56.1 (n)
TTC18 31
  • 47 (a)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13169 30
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 42 (a)
OneToOne
Species where no ortholog for CFAP70 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 CFAP70 Gene

ENSEMBL:
Gene Tree for CFAP70 (if available)
TreeFam:
Gene Tree for CFAP70 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CFAP70: view image

Paralogs for CFAP70 Gene

Paralogs for CFAP70 Gene

genes like me logo Genes that share paralogs with CFAP70: view

Variants for CFAP70 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CFAP70 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
694584 Pathogenic: SPERMATOGENIC FAILURE 41 73,297,174(-) C/A SPLICE_ACCEPTOR_VARIANT
VAR_083155 Spermatogenic failure 41 (SPGF41) [MIM:618670] p.Phe60Ile
rs12256262 - p.Trp849Leu
rs4294502 - p.Asn944Asp

Additional dbSNP identifiers (rs#s) for CFAP70 Gene

Structural Variations from Database of Genomic Variants (DGV) for CFAP70 Gene

Variant ID Type Subtype PubMed ID
esv3578975 CNV loss 25503493
nsv825467 CNV loss 20364138
nsv831911 CNV loss 17160897

Variation tolerance for CFAP70 Gene

Residual Variation Intolerance Score: 9.27% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.98; 87.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CFAP70 Gene

Human Gene Mutation Database (HGMD)
CFAP70
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CFAP70

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CFAP70 Gene

Disorders for CFAP70 Gene

MalaCards: The human disease database

(4) MalaCards diseases for CFAP70 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spermatogenic failure 41
  • spgf41
non-syndromic male infertility due to sperm motility disorder
  • non-syndromic male infertility due asthenozoospermia
retinitis pigmentosa 10
  • rp10
sparganosis
  • infection by sparganum
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CFA70_HUMAN
  • Spermatogenic failure 41 (SPGF41) [MIM:618670]: An autosomal recessive infertility disorder characterized by oligozoospermia, severe asthenozoospermia and flagellar abnormalities such as short, absent, coiled, and irregular-caliber flagella. Some sperm show tapered heads and acrosomal abnormalities. {ECO:0000269 PubMed:31621862}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with CFAP70: view

No data available for Genatlas for CFAP70 Gene

Publications for CFAP70 Gene

  1. CFAP70 mutations lead to male infertility due to severe astheno-teratozoospermia. A case report. (PMID: 31621862) Beurois J … Coutton C (Human reproduction (Oxford, England) 2019) 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. Large-scale proteomics and phosphoproteomics of urinary exosomes. (PMID: 19056867) Gonzales PA … Knepper MA (Journal of the American Society of Nephrology : JASN 2009) 3
  4. The full-ORF clone resource of the German cDNA Consortium. (PMID: 17974005) Bechtel S … Schupp I (BMC genomics 2007) 4
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3

Products for CFAP70 Gene

Sources for CFAP70 Gene