CFAP298 (cilia and flagella associated protein 298)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
56683
Gene name Gene Name - the full gene name approved by the HGNC.
Cilia and flagella associated protein 298
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CFAP298
Synonyms (NCBI Gene) Gene synonyms aliases
C21orf48, C21orf59, CILD26, DNAAF16, FBB18, Kur
Chromosome Chromosome number
21
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
21q22.11
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein that plays a critical role in dynein arm assembly and motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Naturally occuring readthrough transcription occurs from this locus to the downstream t-c
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(16)
GO ID Ontology Definition Evidence Reference
GO:0003352 Process Regulation of cilium movement IEA
GO:0003352 Process Regulation of cilium movement IGI 24094744
GO:0003352 Process Regulation of cilium movement IMP 24094744
GO:0005515 Function Protein binding IPI 28514442, 29601588, 33961781
GO:0005634 Component Nucleus HDA 16780588
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
615494 1301 ENSG00000159079
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID P57076
Protein name Cilia- and flagella-associated protein 298 (Protein kurly homolog)
Protein function Plays a role in motile cilium function, possibly by acting on outer dynein arm assembly (PubMed:24094744). Seems to be important for initiation rather than maintenance of cilium motility (By similarity). Required for correct positioning of the c
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF11069 CFAP298 189 → 285 Cilia- and flagella-associated protein 298 Family
Sequence 
MVLLHVKRGDESQFLLQAPGSTELEELTVQVARVYNGRLKVQRLCSEMEELAEHGIFLPP
NMQGLTDDQIEELKLKDEWGEKCVPSGGAVFKKDDIGRRNGQAPNEKMKQVLKKTIEEAK
AIISKKQVEAGVCVTMEMVKDALDQLRGAVMIVYPMGLPPYDPIRMEFENKEDLSGTQAG
LNVIKEAEAQLWWAAKELRRTKKLSDYVGKNEKTKIIAKIQQRGQGAPAREPIISSEEQK
QLMLYYHRRQEELKRLEENDDDAYLNSPWADNTALKRHFHGVKDIKWRPR
Sequence length 290
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 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 Primary ciliary dyskinesia 26 rs143740376, rs398122401, rs202094637, rs746361802, rs2038760864 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Gastritis Gastritis N/A N/A GWAS
Neuroblastoma Neuroblastoma N/A N/A GWAS
Show/Hide Text Mining Associations (3)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Hypertension Associate 28562329
Hyperuricemia Associate 28410202
Renal Insufficiency Chronic Associate 28410202