Gene Gene information from NCBI Gene database.
Entrez ID 29105
Gene name Cilia and flagella associated protein 20
Gene symbol CFAP20
Synonyms (NCBI Gene)
BUG22C16orf80EVORFGTL3fSAP23
Chromosome 16
Chromosome location 16q21
miRNA miRNA information provided by mirtarbase database.
323
miRTarBase ID miRNA Experiments Reference
MIRT740401 hsa-miR-129-5p HITS-CLIP 28735896
MIRT740401 hsa-miR-129-5p HITS-CLIP 28735896
MIRT740401 hsa-miR-129-5p HITS-CLIP 28735896
MIRT740401 hsa-miR-129-5p HITS-CLIP 28735896
MIRT740401 hsa-miR-129-5p HITS-CLIP 28735896
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22681889
GO:0005515 Function Protein binding IPI 24947832, 27173435, 28514442, 31046837, 32296183, 33961781
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617906 29523 ENSG00000070761
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y6A4
Protein name Cilia- and flagella-associated protein 20 (Basal body up-regulated protein 22) (Transcription factor IIB)
Protein function Cilium- and flagellum-specific protein that plays a role in axonemal structure organization and motility (PubMed:24414207). Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is requi
PDB 7UNG , 8J07
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05018 DUF667 1 185 Protein of unknown function (DUF667) Family
Sequence
Sequence length 193
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Rod-cone dystrophy Likely pathogenic rs1487548809, rs1377392375, rs755182323, rs767928662, rs2543436772 RCV002280835
RCV002280836
RCV002280837
RCV002280838
RCV002280839
★★★★★
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
PANCREATIC CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Carcinoma Breast Carcinoma BEFREE 29331492
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 9808423
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung neoplasms Pubtator 32705258 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 29331492
★☆☆☆☆
Found in Text Mining only