CFAP300 (cilia and flagella associated protein 300)

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
85016
Gene name Gene Name - the full gene name approved by the HGNC.
Cilia and flagella associated protein 300
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CFAP300
Synonyms (NCBI Gene) Gene synonyms aliases
C11orf70, CILD38, DNAAF17, FBB5
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q22.1
SNPs SNP information provided by dbSNP.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
618058 28188 ENSG00000137691
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Ciliary dyskinesia ciliary dyskinesia, primary, 38, primary ciliary dyskinesia rs767760877, rs754773453, rs1555069023, rs745839898, rs1555071691, rs561237622 N/A
Show/Hide Text Mining Associations (2)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Ciliary Motility Disorders Associate 29727692, 29727693, 39180133
Ciliary Motility Disorders Inhibit 33635866