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Aliases for CFAP46 Gene

Aliases for CFAP46 Gene

  • Cilia And Flagella Associated Protein 46 2 3 5
  • 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
  • Cilia- And Flagella-Associated Protein 46 3
  • 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 , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CFAP46 Gene

Genomics for CFAP46 Gene

Regulatory Elements for CFAP46 Gene

Enhancers for CFAP46 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
GH10G132574 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.8 +367.7 367677 2.4 HDGF PKNOX1 TBL1XR1 KLF17 BMI1 ZNF2 RAD21 RARA ZNF366 ZSCAN5C CFAP46 PWWP2B INPP5A JAKMIP3 DPYSL4 PIR45643
GH10G133329 1.5 FANTOM5 Ensembl ENCODE 7.6 -386.7 -386740 1.0 WRNIP1 ARID4B ZNF2 ZNF48 ZNF121 GLIS2 ZNF143 KLF7 FOS KLF13 CFAP46 PRAP1 CALY GC10M133326
GH10G132848 0.6 Ensembl ENCODE 16.8 +94.3 94331 1.7 EZH2 CFAP46 NKX6-2 LINC01168 LOC105378571 GC10P132846
GH10G133273 1.7 FANTOM5 ENCODE dbSUPER 5 -334.0 -334040 7.5 HDGF PKNOX1 FOXA2 ARID4B SIN3A ZBTB7B ZNF143 ZNF207 FOS JUNB ADAM8 TUBGCP2 ECHS1 VENTX ENSG00000235245 CFAP46 GC10P133285 PIR44208
GH10G133158 0.8 ENCODE 10.6 -216.0 -215992 1.7 CTCF PKNOX1 ZNF777 ZNF792 ZIC2 ZKSCAN1 ZFHX2 GLIS2 ZBTB48 PATZ1 KNDC1 ENSG00000235245 CFAP46 RPL5P28
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CFAP46 on UCSC Golden Path with GeneCards custom track

Promoters for CFAP46 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000035485 563 801 CTCF MXI1 SAP130 ARID4B SIN3A BMI1 MTA3 ZNF366 EZH2 MAZ

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

Genes around CFAP46 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFAP46 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CFAP46 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for CFAP46 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CFAP46 Gene

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

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q8IYW2

UniProtKB/Swiss-Prot:

CFA46_HUMAN :
  • Belongs to the CFAP46 family.
Family:
  • Belongs to the CFAP46 family.
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.
genes like me logo Genes that share phenotypes with CFAP46: view

Animal Model Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , 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.

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 CFAP46 gene
Compartment Confidence
cytoskeleton 4
cytosol 2
plasma membrane 1
mitochondrion 1
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for CFAP46 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005929 cilium IEA --
GO:0005930 axoneme IBA,ISS --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with CFAP46: view

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:0030030 cell projection organization 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

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for CFAP46 Gene

NURSA nuclear receptor signaling pathways regulating expression of CFAP46 Gene:

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

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 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
chimpanzee
(Pan troglodytes)
Mammalia TTC40 34
  • 95.83 (n)
dog
(Canis familiaris)
Mammalia TTC40 35 34
  • 78.41 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TTC40 35 34
  • 74.87 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1559985 34
  • 73.07 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 71 (a)
OneToMany
-- 35
  • 59 (a)
OneToMany
-- 35
  • 53 (a)
OneToMany
-- 35
  • 49 (a)
OneToMany
mouse
(Mus musculus)
Mammalia 9330101J02Rik 35
  • 70 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TTC40 35
  • 54 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TTC40 35
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ttc40 34
  • 52.6 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC101883185 34
  • 52.04 (n)
TTC40 35
  • 27 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 35 (a)
OneToOne
Species where no ortholog for CFAP46 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)
  • 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
rs1000022934 -- 132,903,300(+) TCCTG(C/T)GCACA intron-variant
rs1000032104 -- 132,869,037(+) GGGCT(C/T)GGGCC intron-variant
rs1000111609 -- 132,906,844(+) CGTGT(A/G)ATGCC intron-variant
rs1000140335 -- 132,885,342(+) TTAAA(C/T)GTGGG intron-variant
rs1000153228 -- 132,938,991(+) TCCAG(C/T)GCAGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CFAP46 Gene

Variant ID Type Subtype PubMed ID
dgv1462n54 CNV loss 21841781
dgv1463n54 CNV gain 21841781
dgv1464n54 CNV gain 21841781
dgv183n67 CNV gain 20364138
dgv526e59 CNV duplication 20981092
dgv527e59 CNV duplication 20981092
dgv555n106 CNV duplication 24896259
dgv995n100 CNV gain 25217958
dgv996n100 CNV gain 25217958
esv1075802 CNV insertion 17803354
esv1134627 CNV deletion 17803354
esv1221093 CNV insertion 17803354
esv1448769 CNV insertion 17803354
esv1494269 CNV insertion 17803354
esv1497519 CNV insertion 17803354
esv1504000 CNV insertion 17803354
esv1556853 CNV insertion 17803354
esv1640821 CNV insertion 17803354
esv1709311 CNV insertion 17803354
esv1741659 CNV insertion 17803354
esv1750868 CNV insertion 17803354
esv2000499 CNV deletion 18987734
esv2057808 CNV deletion 18987734
esv22659 CNV gain 19812545
esv24374 CNV gain+loss 19812545
esv25979 CNV gain 19812545
esv2657857 CNV deletion 23128226
esv2660773 CNV deletion 23128226
esv2663472 CNV deletion 23128226
esv2665299 CNV deletion 23128226
esv2665894 CNV deletion 23128226
esv2678958 CNV deletion 23128226
esv2740901 CNV deletion 23290073
esv2743736 CNV deletion 23290073
esv2743737 CNV deletion 23290073
esv2743738 CNV deletion 23290073
esv2743739 CNV deletion 23290073
esv2743740 CNV deletion 23290073
esv2743742 CNV deletion 23290073
esv2743743 CNV deletion 23290073
esv2743744 CNV deletion 23290073
esv2743745 CNV deletion 23290073
esv2743746 CNV deletion 23290073
esv2743747 CNV deletion 23290073
esv2743748 CNV deletion 23290073
esv2743749 CNV deletion 23290073
esv2743750 CNV deletion 23290073
esv2743751 CNV deletion 23290073
esv2743753 CNV deletion 23290073
esv2743754 CNV deletion 23290073
esv2743755 CNV deletion 23290073
esv2743756 CNV deletion 23290073
esv2743757 CNV deletion 23290073
esv2743758 CNV deletion 23290073
esv2743759 CNV deletion 23290073
esv2743760 CNV deletion 23290073
esv2743761 CNV deletion 23290073
esv2743762 CNV deletion 23290073
esv2743764 CNV deletion 23290073
esv2743765 CNV deletion 23290073
esv2743766 CNV deletion 23290073
esv2743767 CNV deletion 23290073
esv2743768 CNV deletion 23290073
esv2743769 CNV deletion 23290073
esv2743770 CNV deletion 23290073
esv2743771 CNV deletion 23290073
esv2743772 CNV deletion 23290073
esv2743773 CNV deletion 23290073
esv2743775 CNV deletion 23290073
esv2743776 CNV deletion 23290073
esv2743777 CNV deletion 23290073
esv2743778 CNV deletion 23290073
esv2743779 CNV deletion 23290073
esv2743780 CNV deletion 23290073
esv2750852 CNV gain 17911159
esv2759792 CNV gain 17122850
esv3335009 CNV duplication 20981092
esv3577894 CNV gain 25503493
esv3577905 CNV gain 25503493
esv3625008 CNV gain 21293372
esv3625009 CNV loss 21293372
esv3625010 CNV gain 21293372
esv3625011 CNV gain 21293372
esv3625012 CNV loss 21293372
esv3625014 CNV gain 21293372
esv3625015 CNV gain 21293372
esv3625016 CNV loss 21293372
esv3625017 CNV gain 21293372
esv3625018 CNV gain 21293372
esv3891900 CNV gain 25118596
nsv1042708 CNV gain 25217958
nsv1047858 CNV loss 25217958
nsv1054934 CNV gain 25217958
nsv1075823 CNV duplication 25765185
nsv1110681 CNV insertion 24896259
nsv1121825 CNV deletion 24896259
nsv1125517 CNV tandem duplication 24896259
nsv1134076 CNV deletion 24896259
nsv1135780 CNV deletion 24896259
nsv1140462 CNV tandem duplication 24896259
nsv1148824 CNV duplication 26484159
nsv1150899 CNV insertion 26484159
nsv1151473 CNV deletion 26484159
nsv1152395 CNV deletion 26484159
nsv24470 CNV deletion 16902084
nsv25054 CNV deletion 16902084
nsv467498 CNV gain 19166990
nsv467499 CNV gain 19166990
nsv470977 CNV loss 18288195
nsv470978 CNV loss 18288195
nsv509378 CNV insertion 20534489
nsv509379 CNV insertion 20534489
nsv522491 CNV loss 19592680
nsv528260 CNV loss 19592680
nsv552526 CNV gain 21841781
nsv552537 CNV loss 21841781
nsv552538 CNV gain 21841781
nsv818788 CNV gain 17921354
nsv825667 CNV gain 20364138
nsv832032 CNV loss 17160897
nsv832033 CNV loss 17160897
nsv832034 CNV loss 17160897
nsv832035 CNV loss 17160897
nsv952700 CNV deletion 24416366
nsv952701 CNV deletion 24416366
nsv952702 CNV deletion 24416366

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CFAP46

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CFAP46 Gene

Disorders for CFAP46 Gene

Relevant External Links for CFAP46

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CFAP46

No disorders were found for CFAP46 Gene.

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 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P. … Rogers J. (Nature 2004) 3 4 64
  4. 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) 3 4 64
  5. Identification of a novel methylated gene in nasopharyngeal carcinoma: TTC40. (PMID: 25101295) Ayadi W. … Mokdad-Gargouri R. (Biomed Res Int 2014) 3 64

Products for CFAP46 Gene

Sources for CFAP46 Gene

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