CFAP300 (cilia and flagella associated protein 300)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID 85016
Gene name Cilia and flagella associated protein 300
Gene symbol CFAP300
Synonyms (NCBI Gene)
C11orf70CILD38DNAAF17FBB5
Chromosome 11
Chromosome location 11q22.1
SNPs SNP information provided by dbSNP.
6
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (6)
SNP ID Visualize variation Clinical significance Consequence
rs561237622 C>G,T Pathogenic Intron variant, stop gained, missense variant, coding sequence variant
rs745839898 TTT>-,TT Pathogenic Frameshift variant, inframe deletion, coding sequence variant
rs754773453 A>T Pathogenic Intron variant, stop gained, coding sequence variant
rs767760877 C>A,T Pathogenic Coding sequence variant, stop gained, missense variant
rs1555069023 TTT>CC Pathogenic Coding sequence variant, frameshift variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (6)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 29727692
GO:0005737 Component Cytoplasm IEA
GO:0005737 Component Cytoplasm ISS
GO:0005856 Component Cytoskeleton IEA
GO:0031514 Component Motile cilium ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
618058 28188 ENSG00000137691
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BRQ4
Protein name Cilia- and flagella-associated protein 300
Protein 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.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14926 DUF4498 14 → 259 Domain of unknown function (DUF4498) Family
Tissue specificity TISSUE SPECIFICITY: Expressed in nasal epithelial cells. {ECO:0000269|PubMed:29727693}.
Sequence
Sequence length 267
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (5)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CFAP300-related disorder Pathogenic rs1555069023 RCV004758046
Ciliary dyskinesia, primary, 38 Likely pathogenic; Pathogenic rs762224876, rs2496303476, rs1555071691, rs561237622, rs767760877, rs754773453, rs1555069023, rs745839898 RCV002221704
RCV003881668
RCV000664433
RCV000664434
RCV000664435
RCV000664436
RCV000664437
RCV000995710
Heterotaxy Pathogenic rs2135055284 RCV001732149
Melanoma Likely pathogenic rs1942231774 RCV005934777
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Lung cancer Uncertain significance rs780254838 RCV005929988
Show/Hide Text Mining Associations (2)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Ciliary Motility Disorders Associate 29727692, 29727693, 39180133
Ciliary Motility Disorders Inhibit 33635866