Gene Gene information from NCBI Gene database.
Entrez ID 29070
Gene name Cilia and flagella associated protein 263
Gene symbol CFAP263
Synonyms (NCBI Gene)
CCDC113HSPC065
Chromosome 16
Chromosome location 16q21
miRNA miRNA information provided by mirtarbase database.
380
miRTarBase ID miRNA Experiments Reference
MIRT028268 hsa-miR-32-5p Sequencing 20371350
MIRT051698 hsa-let-7e-5p CLASH 23622248
MIRT038959 hsa-miR-22-5p CLASH 23622248
MIRT669198 hsa-miR-508-5p HITS-CLIP 23824327
MIRT242415 hsa-miR-25-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25074808, 32296183
GO:0005737 Component Cytoplasm IEA
GO:0005856 Component Cytoskeleton IEA
GO:0005929 Component Cilium IEA
GO:0005930 Component Axoneme IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616070 25002 ENSG00000103021
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H0I3
Protein name Cilia- and flagella-associated protein 263
Protein function Component of centriolar satellites contributing to primary cilium formation (PubMed:25074808). In complex with CFAP263, acts as a regulator of ciliary beating that connects radial spoke 3 (RS3) to the inner dynein arm (IDA) and the nexin-dynein
PDB 8J07
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13870 DUF4201 178 354 Domain of unknown function (DUF4201) Coiled-coil
Sequence
MTDDESESVLSDSHEGSELELPVIQLCGLVEELSYVNSALKTETEMFEKYYAKLEPRDQR
PPRLSEIKISAADYAQFRGRRRSKSRTGMDRGVGLTADQKLELVQKEVADMKDDLRHTRA
NAERDLQHHEAIIEEAEIRWSEVSREVHEFEKDILKAISKKKGSILATQKVMKYIEDMNR
RRDNMKEKLRLKNVSLKVQRKKMLLQLRQKEEVSEALHDVDFQQLKIENAQFLETIEARN
QELTQLKLSSGNTLQVLNAYKSKLHKAMEIYLNLDKEILLRKELLEKIEKETLQVEEDRA
KAEAVNKRLRKQLAEFRAPQVMTYVREKILNADLEKSIRMWERKVEIAEMSLKG
HRKAWN
RMKITNEQLQADYLAGK
Sequence length 377
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BILIARY LIVER CIRRHOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CIRRHOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations