CFAP119 (cilia and flagella associated protein 119)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 90835
Gene name Cilia and flagella associated protein 119
Gene symbol CFAP119
Synonyms (NCBI Gene)
C16orf93CCDC189
Chromosome 16
Chromosome location 16p11.2
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (14)
GO ID Ontology Definition Evidence Reference
GO:0001534 Component Radial spoke IEA
GO:0001669 Component Acrosomal vesicle IEA
GO:0001669 Component Acrosomal vesicle ISS
GO:0005737 Component Cytoplasm IEA
GO:0005737 Component Cytoplasm ISS
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
618318 28078 ENSG00000196118
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.
A1A4V9
Protein name Cilia- and flagella-associated protein 119 (Coiled-coil domain-containing protein 189)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14769 CLAMP 126 → 224 Flagellar C1a complex subunit C1a-32 Family
Sequence 
MLNRKTSHFLGMRVQSELEHLSELRREAGKDRSSVHGSAARTRASVRTQWTTAAAAKADE
DPGANLFPPPLPRPRICMWKYLDVHSMHQLEKTTNAEMREVLAELLELGCPEQSLRDAIT
LDLFCHALIFCRQQGFSLEQTSAACALLQDLHKACIATPLGNVEECYRYFTSVLFCHGVR
RPPFSIDLFKEEQLLALEDYVVNTYFRHFKLYKYVFTPQVRLDLSLTYMGLQPPKLWPES
ETEKEESKEMEEQAVTPQKEELETVAPPEPEPSHIHVLRAYIKTQVNKELEQLQGLVEER
LKASEERLSSKLTALERPFQLPPGKGKSKTK
Sequence length 331
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (1)
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
GLYCOGEN STORAGE DISEASE, TYPE IX — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (1)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Asthenozoospermia Asthenozoospermia BEFREE 30975085
★★★★★
★☆☆☆☆
Found in Text Mining only