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

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. An important paralog of this gene is TTC7B.

Additional gene information for CFAP70 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot 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 for CFAP70 Gene

Promoters and enhancers for CFAP70 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
GH10J073362 Enhancer 0.3 Ensembl 770.9 -1.8 -1837 0.6 HLF CFAP70 NUDT13 HSALNG0078834
GH10J073493 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 26.7 -134.2 -134172 3.7 SIN3A SP1 ZBTB40 FOXA1 RBPJ SMARCE1 POLR2A HCFC1 MIXL1 MYC PPP3CB PPP3CB-AS1 SEC24C CFAP70 ENSG00000272140 ZSWIM8 ECD NDST2 GLUD1P3 AP3M1
GH10J073624 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 22.2 -265.0 -265017 3 ZNF785 SIN3A SIX5 FOXA1 POLR2A HCFC1 MIXL1 ZNF362 MYC CC2D1A ENSG00000268584 USP54 lnc-MYOZ1-1 lnc-SEC24C-4 NDST2 ECD NUDT13 ZSWIM8 SEC24C ENSG00000242288
GH10J073243 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 20.4 +114.8 114831 5.5 ZBTB40 RBPJ SMARCE1 POLR2A ATF1 CREB1 HCFC1 MIXL1 ZNF362 MYC DNAJC9 DNAJC9-AS1 lnc-DNAJC9-1 NDST2 SEC24C ZSWIM8 DNAJB12 AP3M1 BMS1P4 ENSG00000272140
GH10J073250 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 20.3 +108.7 108671 3.6 SIN3A SP1 ZBTB40 SIX5 FOXA1 MLX RBPJ SMARCE1 POLR2A USF2 ENSG00000227540 MRPS16 ECD DNAJB12 NDST2 SEC24C ZSWIM8 GLUD1P3 ZSWIM8-AS1 AP3M1
- 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 UCSC Golden Path with GeneCards custom track

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; Positions=Several; Evidence={ECO:0000305}; Sequence=AAM20910.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; Sequence=BAC05358.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; 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 :
  • Belongs to the CFAP70 family.
Family:
  • Belongs to the CFAP70 family.
genes like me logo Genes that share domains with CFAP70: view

Function for CFAP70 Gene

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

Clone Products

No data available for Molecular function , 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.

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
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:0042995 cell projection IEA --
GO:0070062 extracellular exosome HDA 19056867
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:0008150 biological_process ND --
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

CRISPR Products

Inhibitory RNA Products

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

Clone Products

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

No ASD Table

Relevant External Links for CFAP70 Gene

GeneLoc Exon Structure for
CFAP70
ECgene alternative splicing isoforms for
CFAP70

Expression for CFAP70 Gene

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

NURSA nuclear receptor signaling pathways regulating expression of CFAP70 Gene:

CFAP70
genes like me logo Genes that share expression patterns with CFAP70: 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 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 33 32
  • 99.7 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TTC18 33 32
  • 90.83 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TTC18 32
  • 88.54 (n)
mouse
(Mus musculus)
Mammalia Ttc18 33 32
  • 81.62 (n)
OneToOne
Cfap70 17
rat
(Rattus norvegicus)
Mammalia Ttc18 32
  • 80.91 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 73 (a)
OneToMany
-- 33
  • 70 (a)
OneToMany
-- 33
  • 66 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia TTC18 33
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves TTC18 33 32
  • 64.93 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TTC18 33
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ttc18 32
  • 61.3 (n)
Str.13839 32
zebrafish
(Danio rerio)
Actinopterygii si:dkey-254e1.1 32
  • 56.1 (n)
TTC18 33
  • 47 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13169 32
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 42 (a)
OneToOne
Species where no ortholog for CFAP70 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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 from dbSNP and Humsavar for CFAP70 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000026344 -- 73,304,500(-) T/C intron_variant
rs1000050514 -- 73,289,288(-) A/C genic_downstream_transcript_variant, intron_variant
rs1000098722 -- 73,296,600(-) C/G intron_variant
rs1000173975 -- 73,261,578(-) A/T genic_downstream_transcript_variant, intron_variant
rs1000183239 -- 73,269,471(-) C/T genic_downstream_transcript_variant, intron_variant

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

Additional Disease Information for CFAP70

No disorders were found for CFAP70 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CFAP70 Gene

Publications for CFAP70 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  2. Large-scale proteomics and phosphoproteomics of urinary exosomes. (PMID: 19056867) Gonzales PA … Knepper MA (Journal of the American Society of Nephrology : JASN 2009) 3 56
  3. The full-ORF clone resource of the German cDNA Consortium. (PMID: 17974005) Bechtel S … Schupp I (BMC genomics 2007) 4 56
  4. 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 56
  5. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 56

Products for CFAP70 Gene

Sources for CFAP70 Gene