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Aliases for CFAP46 Gene

Aliases for CFAP46 Gene

  • Cilia And Flagella Associated Protein 46 2 3
  • Tetratricopeptide Repeat Protein 40 3 4
  • Tetratricopeptide Repeat Domain 40 2 3
  • C10orf123 3 4
  • C10orf124 3 4
  • C10orf92 3 4
  • C10orf93 3 4
  • TTC40 3 4
  • TPR Repeat-Containing Protein C10orf93 3
  • Chromosome 10 Open Reading Frame 123 2
  • Chromosome 10 Open Reading Frame 124 2
  • Chromosome 10 Open Reading Frame 93 2
  • Chromosome 10 Open Reading Frame 92 2
  • Protein CFAP46 3
  • BA288G11.4 3
  • BA288G11.5 3
  • BB137A17.2 3
  • BB137A17.3 3

External Ids for CFAP46 Gene

Previous HGNC Symbols for CFAP46 Gene

  • C10orf123
  • C10orf124
  • C10orf93
  • C10orf92
  • TTC40

Summaries for CFAP46 Gene

GeneCards Summary for CFAP46 Gene

CFAP46 (Cilia And Flagella Associated Protein 46) is a Protein Coding gene.

UniProtKB/Swiss-Prot for CFAP46 Gene

  • As part of the central apparatus of the cilium axoneme plays a role in cilium movement.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CFAP46 Gene

Genomics for CFAP46 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CFAP46 Gene

Chromosome:
10
Start:
132,808,392 bp from pter
End:
132,943,163 bp from pter
Size:
134,772 bases
Orientation:
Minus strand

Genomic View for CFAP46 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CFAP46 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFAP46 Gene

No data available for Regulatory Elements for CFAP46 Gene

Proteins for CFAP46 Gene

  • Protein details for CFAP46 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IYW2-CFA46_HUMAN
    Recommended name:
    Cilia- and flagella-associated protein 46
    Protein Accession:
    Q8IYW2
    Secondary Accessions:
    • B1AP44
    • B7WPK8
    • Q5JSF7
    • Q5SR76
    • Q5SR77
    • Q86ST2
    • Q8N777
    • Q9NTQ5

    Protein attributes for CFAP46 Gene

    Size:
    2715 amino acids
    Molecular mass:
    303500 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH34223.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC05424.1; Type=Erroneous termination; Positions=7; Note=Translated as Gln.; Evidence={ECO:0000305}; Sequence=CAI17262.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI39950.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI39951.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for CFAP46 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CFAP46 Gene

Proteomics data for CFAP46 Gene at MOPED

Post-translational modifications for CFAP46 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CFAP46 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CFAP46 Gene

Domains & Families for CFAP46 Gene

Gene Families for CFAP46 Gene

Protein Domains for CFAP46 Gene

Graphical View of Domain Structure for InterPro Entry

Q8IYW2

UniProtKB/Swiss-Prot:

CFA46_HUMAN :
  • Belongs to the CFAP46 family.
  • Contains 13 TPR repeats.
Family:
  • Belongs to the CFAP46 family.
Similarity:
  • Contains 13 TPR repeats.
genes like me logo Genes that share domains with CFAP46: view

Function for CFAP46 Gene

Molecular function for CFAP46 Gene

UniProtKB/Swiss-Prot Function:
As part of the central apparatus of the cilium axoneme plays a role in cilium movement.

Gene Ontology (GO) - Molecular Function for CFAP46 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008233 peptidase activity IEA --
genes like me logo Genes that share ontologies with CFAP46: view
genes like me logo Genes that share phenotypes with CFAP46: view

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CFAP46

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CFAP46 Gene

Localization for CFAP46 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFAP46 Gene

Cytoplasm, cytoskeleton, cilium axoneme.

Gene Ontology (GO) - Cellular Components for CFAP46 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005856 cytoskeleton IEA --
GO:0005930 axoneme ISS --
genes like me logo Genes that share ontologies with CFAP46: view

No data available for Subcellular locations from COMPARTMENTS for CFAP46 Gene

Pathways & Interactions for CFAP46 Gene

SuperPathways for CFAP46 Gene

No Data Available

Interacting Proteins for CFAP46 Gene

Gene Ontology (GO) - Biological Process for CFAP46 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0035082 axoneme assembly ISS --
GO:0060294 cilium movement involved in cell motility IBA --
genes like me logo Genes that share ontologies with CFAP46: view

No data available for Pathways by source and SIGNOR curated interactions for CFAP46 Gene

Drugs & Compounds for CFAP46 Gene

No Compound Related Data Available

Transcripts for CFAP46 Gene

mRNA/cDNA for CFAP46 Gene

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CFAP46

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CFAP46 Gene

No ASD Table

Relevant External Links for CFAP46 Gene

GeneLoc Exon Structure for
CFAP46
ECgene alternative splicing isoforms for
CFAP46

Expression for CFAP46 Gene

mRNA expression in normal human tissues for CFAP46 Gene

Protein differential expression in normal tissues from HIPED for CFAP46 Gene

This gene is overexpressed in Pancreatic juice (42.5), Peripheral blood mononuclear cells (12.0), Retina (7.1), and Heart (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CFAP46 Gene



genes like me logo Genes that share expression patterns with CFAP46: view

Protein tissue co-expression partners for CFAP46 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CFAP46 Gene

Orthologs for CFAP46 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CFAP46 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TTC40 35
  • 74.87 (n)
  • 67.1 (a)
TTC40 36
  • 70 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TTC40 35
  • 78.41 (n)
  • 73.24 (a)
TTC40 36
  • 67 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TTC40 35
  • 95.83 (n)
  • 94.14 (a)
rat
(Rattus norvegicus)
Mammalia RGD1559985 35
  • 73.07 (n)
  • 66.67 (a)
oppossum
(Monodelphis domestica)
Mammalia TTC40 36
  • 54 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 9330101J02Rik 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 71 (a)
OneToMany
-- 36
  • 49 (a)
OneToMany
-- 36
  • 59 (a)
OneToMany
-- 36
  • 53 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia TTC40 36
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ttc40 35
  • 52.6 (n)
  • 44.21 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC101883185 35
  • 52.04 (n)
  • 40.4 (a)
TTC40 36
  • 27 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 35 (a)
OneToOne
Species with no ortholog for CFAP46:
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • 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 CFAP46 Gene

ENSEMBL:
Gene Tree for CFAP46 (if available)
TreeFam:
Gene Tree for CFAP46 (if available)

Paralogs for CFAP46 Gene

No data available for Paralogs for CFAP46 Gene

Variants for CFAP46 Gene

Sequence variations from dbSNP and Humsavar for CFAP46 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs874008 -- 132,807,938(+) GGAGG(G/T)TGCGT downstream-variant-500B
rs913188 -- 132,811,575(-) GCCCC(C/T)GATCC intron-variant
rs913197 -- 132,810,761(-) CAGCC(A/C/G)GGCCC intron-variant, downstream-variant-500B
rs1806693 -- 132,859,340(-) CCTGG(A/G)TGAAC intron-variant
rs1962173 -- 132,873,935(-) TCTTG(G/T)AACAG intron-variant

Variation tolerance for CFAP46 Gene

Gene Damage Index Score: 17.94; 98.39% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CFAP46 Gene

HapMap Linkage Disequilibrium report
CFAP46

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CFAP46 Gene

Disorders for CFAP46 Gene

Relevant External Links for CFAP46

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CFAP46
genes like me logo Genes that share disorders with CFAP46: view

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CFAP46 Gene

Publications for CFAP46 Gene

  1. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 2 67
  2. Identification of a novel methylated gene in nasopharyngeal carcinoma: TTC40. (PMID: 25101295) Ayadi W. … Mokdad-Gargouri R. (Biomed Res Int 2014) 67
  3. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PMID: 17207965) Lamesch P. … Vidal M. (Genomics 2007) 67
  4. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 67
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 67

Products for CFAP46 Gene

Sources for CFAP46 Gene

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