Aliases for CFAP300 Gene

Aliases for CFAP300 Gene

  • Cilia And Flagella Associated Protein 300 2 3 5
  • Cilia- And Flagella-Associated Protein 300 3 4
  • C11orf70 3 4
  • FBB5 2 3
  • Chromosome 11 Open Reading Frame 70 2
  • Uncharacterized Protein C11orf70 3
  • MGC13040 2
  • CFAP300 5
  • CILD38 3

External Ids for CFAP300 Gene

Previous HGNC Symbols for CFAP300 Gene

  • C11orf70

Summaries for CFAP300 Gene

GeneCards Summary for CFAP300 Gene

CFAP300 (Cilia And Flagella Associated Protein 300) is a Protein Coding gene. Diseases associated with CFAP300 include Ciliary Dyskinesia, Primary, 38 and Primary Ciliary Dyskinesia.

UniProtKB/Swiss-Prot Summary for CFAP300 Gene

  • Cilium- and flagellum-specific protein that plays a role in axonemal structure organization and motility. May play a role in outer and inner dynein arm assembly.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CFAP300 Gene

Genomics for CFAP300 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CFAP300 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
GH11J102046 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 255.3 +0.3 310 1.8 SIN3A EBF1 YY1 SP2 RFX1 EGR1 L3MBTL2 ZBTB8A ZNF629 ZHX2 CFAP300 RF00017-1011 YAP1
GH11J102757 Enhancer 1.1 FANTOM5 Ensembl ENCODE 12.5 +713.4 713391 6.8 PLRG1 CEBPB EP300 GABPA RFX5 STAT3 JUND FOSL1 PRDM6 KLF16 DYNC2H1 CFAP300 MMP1 MMP8 MMP3 MMP27 MMP7 BIRC2 ENSG00000225678 LOC100421658
GH11J102476 Enhancer 1.1 ENCODE dbSUPER 10.6 +429.7 429703 1.7 TBP CEBPA IKZF1 HOMEZ KDM6A THAP11 FOXA2 ZNF511 SMAD4 SAP130 LOC101928424 BIRC2 DYNC2H1 MMP7 MMP20 CFAP300 ENSG00000256916 MMP1 TMEM123 LOC102723838
GH11J102169 Enhancer 1 FANTOM5 Ensembl ENCODE dbSUPER 3.3 +124.2 124244 3.5 CEBPB EP300 STAT3 JUND FOS YAP1 CFAP300 TMEM123 HSALNG0086765 piR-42491-034 BIRC3
GH11J102085 Enhancer 0.9 Ensembl ENCODE 0.3 +38.8 38780 0.9 CEBPA FOXA1 ZFP64 HOMEZ FOXA2 SMAD4 SAP130 ETV4 RARA TEAD3 HSALNG0086761 HSALNG0086760 YAP1 CFAP300
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CFAP300 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CFAP300

Genomic Locations for CFAP300 Gene

Latest Assembly
chr11:102,047,409-102,084,554
(GRCh38/hg38)
Size:
37,146 bases
Orientation:
Plus strand

Previous Assembly
chr11:101,918,168-101,955,285
(GRCh37/hg19 by Entrez Gene)
Size:
37,118 bases
Orientation:
Plus strand

chr11:101,918,174-101,955,291
(GRCh37/hg19 by Ensembl)
Size:
37,118 bases
Orientation:
Plus strand

Genomic View for CFAP300 Gene

Genes around CFAP300 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFAP300 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CFAP300 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFAP300 Gene

Proteins for CFAP300 Gene

  • Protein details for CFAP300 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BRQ4-CF300_HUMAN
    Recommended name:
    Cilia- and flagella-associated protein 300
    Protein Accession:
    Q9BRQ4
    Secondary Accessions:
    • E9PJU1

    Protein attributes for CFAP300 Gene

    Size:
    267 amino acids
    Molecular mass:
    30859 Da
    Quaternary structure:
    • Interacts with DNAAF2.

    Alternative splice isoforms for CFAP300 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CFAP300 Gene

Post-translational modifications for CFAP300 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CFAP300 Gene

Domains & Families for CFAP300 Gene

Gene Families for CFAP300 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CFAP300 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CFAP300 Gene

GenScript: Design optimal peptide antigens:
  • C11orf70 protein (Q7Z2V0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BRQ4

UniProtKB/Swiss-Prot:

CF300_HUMAN :
  • Belongs to the CFAP300 family.
Family:
  • Belongs to the CFAP300 family.
genes like me logo Genes that share domains with CFAP300: view

Function for CFAP300 Gene

Molecular function for CFAP300 Gene

UniProtKB/Swiss-Prot Function:
Cilium- and flagellum-specific protein that plays a role in axonemal structure organization and motility. May play a role in outer and inner dynein arm assembly.
UniProtKB/Swiss-Prot Induction:
Up-regulated during ciliogenesis.

Phenotypes From GWAS Catalog for CFAP300 Gene

Gene Ontology (GO) - Molecular Function for CFAP300 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 29727692
genes like me logo Genes that share ontologies with CFAP300: view
genes like me logo Genes that share phenotypes with CFAP300: view

Human Phenotype Ontology for CFAP300 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CFAP300 Gene

Localization for CFAP300 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFAP300 Gene

Cytoplasm. 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 CFAP300 gene
Compartment Confidence
cytoskeleton 3
extracellular 1
nucleus 1
cytosol 1
mitochondrion 0
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CFAP300 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,ISS --
GO:0005856 cytoskeleton IEA --
GO:0031514 motile cilium ISS --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with CFAP300: view

Pathways & Interactions for CFAP300 Gene

PathCards logo

SuperPathways for CFAP300 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CFAP300 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CFAP300 Gene

Drugs & Compounds for CFAP300 Gene

No Compound Related Data Available

Transcripts for CFAP300 Gene

mRNA/cDNA for CFAP300 Gene

3 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for CFAP300 Gene

No ASD Table

Relevant External Links for CFAP300 Gene

GeneLoc Exon Structure for
CFAP300

Expression for CFAP300 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CFAP300

mRNA Expression by UniProt/SwissProt for CFAP300 Gene:

Q9BRQ4-CF300_HUMAN
Tissue specificity: Expressed in nasal epithelial cells.

Evidence on tissue expression from TISSUES for CFAP300 Gene

  • Pancreas(4.2)
  • Nervous system(4.2)

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CFAP300 Gene

Orthologs for CFAP300 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CFAP300 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C11ORF70 31
  • 100 (a)
OneToOne
C11H11orf70 30
  • 99.38 (n)
Dog
(Canis familiaris)
Mammalia C5H11orf70 30
  • 90.48 (n)
C11orf70 31
  • 89 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia C15H11orf70 30
  • 90.14 (n)
-- 31
  • 88 (a)
OneToMany
-- 31
  • 75 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia 9230110C19Rik 30 31
  • 83.52 (n)
OneToOne
Cfap300 17
Rat
(Rattus norvegicus)
Mammalia LOC654482 30
  • 82.27 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia C11orf70 31
  • 76 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia C11orf70 31
  • 69 (a)
OneToOne
Chicken
(Gallus gallus)
Aves C1H11ORF70 30 31
  • 67.68 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia C11orf70 31
  • 57 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia c11orf70 30
  • 66.14 (n)
Str.17259 30
Zebrafish
(Danio rerio)
Actinopterygii si:rp71-1p14.7 30
  • 58.02 (n)
C21H11orf70 31
  • 49 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 42 (a)
OneToOne
Species where no ortholog for CFAP300 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • 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 CFAP300 Gene

ENSEMBL:
Gene Tree for CFAP300 (if available)
TreeFam:
Gene Tree for CFAP300 (if available)

Paralogs for CFAP300 Gene

No data available for Paralogs for CFAP300 Gene

Variants for CFAP300 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CFAP300 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs1555069023 Pathogenic: Ciliary dyskinesia, primary, 38 102,058,885(+) TTT/CC
NM_032930.3(CFAP300):c.198_200delinsCC (p.Phe67fs)
FRAMESHIFT
rs1555071691 Pathogenic: Ciliary dyskinesia, primary, 38. Ciliary dyskinesia, primary, 38 (CILD38) [MIM:618063] 102,083,171(+) A/Gp.His259Arg
NM_032930.3(CFAP300):c.776A>G (p.His259Arg)
MISSENSE
rs561237622 Pathogenic: Ciliary dyskinesia, primary, 38 102,066,577(+) C/T
NM_032930.3(CFAP300):c.361C>T (p.Arg121Ter)
NONSENSE,INTRON
rs745839898 Pathogenic: Ciliary dyskinesia, primary, 38 102,058,881(+) CT/C
NM_032930.3(CFAP300):c.200del (p.Phe67fs)
FRAMESHIFT
rs754773453 Pathogenic: Ciliary dyskinesia, primary, 38 102,066,649(+) A/T
NM_032930.3(CFAP300):c.433A>T (p.Arg145Ter)
NONSENSE,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CFAP300 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CFAP300 Gene

Variant ID Type Subtype PubMed ID
esv3580072 CNV gain 25503493

Variation tolerance for CFAP300 Gene

Residual Variation Intolerance Score: 23.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.76; 16.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CFAP300 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CFAP300

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CFAP300 Gene

Disorders for CFAP300 Gene

MalaCards: The human disease database

(4) MalaCards diseases for CFAP300 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
ciliary dyskinesia, primary, 38
  • cild38
primary ciliary dyskinesia
  • ciliary motility disorder
kartagener syndrome
  • kartagener's syndrome
hereditary breast ovarian cancer syndrome
  • brca1- and brca2-associated hereditary breast and ovarian cancer
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CF300_HUMAN
  • Ciliary dyskinesia, primary, 38 (CILD38) [MIM:618063]: A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Some patients exhibit randomization of left-right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD38 inheritance is autosomal recessive. {ECO:0000269 PubMed:29727692, ECO:0000269 PubMed:29727693}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for CFAP300

genes like me logo Genes that share disorders with CFAP300: view

No data available for Genatlas for CFAP300 Gene

Publications for CFAP300 Gene

  1. C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia. (PMID: 29727692) Fassad MR … Mitchison HM (American journal of human genetics 2018) 2 3 4 74
  2. Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms. (PMID: 29727693) Höben IM … Omran H (American journal of human genetics 2018) 2 3 4
  3. CFAP300: Mutations in Slavic Patients with Primary Ciliary Dyskinesia and a Role in Ciliary Dynein Arms Trafficking. (PMID: 30916986) Zietkiewicz E … Witt M (American journal of respiratory cell and molecular biology 2019) 2 3
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for CFAP300 Gene

Sources for CFAP300 Gene