• Gene id: 56683

Gene Summary

• Gene Symbol: CFAP298   Gene   UCSC   Ensembl
• Aliases: C21orf48, C21orf59, CILD26, FBB18, Kur
• Gene name: cilia and flagella associated protein 298
• Alternate names: cilia- and flagella-associated protein 298, UPF0769 protein C21orf59, kurly homolog, prostate cancer upregulated protein 1, protein kurly homolog,
• Gene location: 21q22.11 (31391674: 31538210)     Exons: 16     NC_000017.11
• Gene summary(Entrez): 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
• OMIM: 615494

SNPs

rs202094637

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000021.9   g.32602299G>A
NC_000021.9   g.32602299G>C
NC_000021.8   g.33974609G>A
NC_000021.8   g.33974609G>C
NG_033839.2   g.15310C>T
NG_033839.2   g.15310C>G
NM_021254.4   c.735C>T
NM_021254.4   c.735C>G
NM_021254.3   c.735C>T
NM_021254.3   c.735C>G
NM_021254.2   c.73

rs143740376

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000021.9   g.32609853G>A
NC_000021.8   g.33982163G>A
NG_033839.2   g.7756C>T
NM_021254.4   c.292C>T
NM_021254.3   c.292C>T
NM_021254.2   c.292C>T
NM_001350334.2   c.63C>T
NM_001350334.1   c.63C>T
NM_001350336.2   c.292C>T
NM_001350336.1   c.292C>T
NM_001350337.2   c.29

Protein Summary

• Protein general information: P57076  
  • Name: Cilia and flagella associated protein 298 (Protein kurly homolog)
  • Length: 290  
  • Mass: 33224
• Sequence:

  MVLLHVKRGDESQFLLQAPGSTELEELTVQVARVYNGRLKVQRLCSEMEELAEHGIFLPPNMQGLTDDQIEELKL
  KDEWGEKCVPSGGAVFKKDDIGRRNGQAPNEKMKQVLKKTIEEAKAIISKKQVEAGVCVTMEMVKDALDQLRGAV
  MIVYPMGLPPYDPIRMEFENKEDLSGTQAGLNVIKEAEAQLWWAAKELRRTKKLSDYVGKNEKTKIIAKIQQRGQ
  GAPAREPIISSEEQKQLMLYYHRRQEELKRLEENDDDAYLNSPWADNTALKRHFHGVKDIKWRPR

• Structural information:
  • Interpro: IPR021298  
  • STRING: ENSP00000290155
• Other Databases: GeneCards:  CFAP298  Malacards:  CFAP298

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0003352	regulation of cilium movement	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	HDA	cellular component
GO:0003352	regulation of cilium movement	IGI	biological process
GO:0003352	regulation of cilium movement	IMP	biological process
GO:0060271	cilium assembly	IMP	biological process
GO:0005829	cytosol	HDA	cellular component

Diseases

Associated diseases	References
Primary ciliary dyskinesia	KEGG:H00564
Primary ciliary dyskinesia	KEGG:H00564
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray