CFAP298 (cilia and flagella associated protein 298)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 56683
Gene name Cilia and flagella associated protein 298
Gene symbol CFAP298
Synonyms (NCBI Gene)
C21orf48C21orf59CILD26DNAAF16FBB18Kur
Chromosome 21
Chromosome location 21q22.11
Summary 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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
615494 1301 ENSG00000159079
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
31
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Heterotaxy Pathogenic rs2146563694 RCV001732152
Primary ciliary dyskinesia 26 Likely pathogenic; Pathogenic rs202094637, rs750995181, rs746361802, rs2038760864, rs143740376, rs398122401 RCV000074371
RCV003138417
RCV001078454
RCV001078453
RCV000074372
RCV000074373
Show/Hide Unknown Diseases (9)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs140374402 RCV005920994
Cervical cancer Benign rs140374402 RCV005920995
CFAP298-related disorder Likely benign; Benign; Uncertain significance rs375347058, rs111702591, rs192428442, rs759913057, rs773240777, rs138091636, rs76974938 RCV003943478
RCV003914669
RCV003939551
RCV003934385
RCV004758693
RCV003912823
RCV004758725
Clear cell carcinoma of kidney Benign rs140374402 RCV005920996
Show/Hide Text Mining Associations (3)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Hypertension Associate 28562329
Hyperuricemia Associate 28410202
Renal Insufficiency Chronic Associate 28410202