Gene Gene information from NCBI Gene database.
Entrez ID 257236
Gene name Cilia and flagella associated protein 184
Gene symbol CFAP184
Synonyms (NCBI Gene)
CCDC96
Chromosome 4
Chromosome location 4p16.1
miRNA miRNA information provided by mirtarbase database.
24
miRTarBase ID miRNA Experiments Reference
MIRT050295 hsa-miR-25-3p CLASH 23622248
MIRT870673 hsa-miR-1247 CLIP-seq
MIRT870674 hsa-miR-1253 CLIP-seq
MIRT870675 hsa-miR-155 CLIP-seq
MIRT870676 hsa-miR-2052 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183, 33961781
GO:0005737 Component Cytoplasm IEA
GO:0005813 Component Centrosome IEA
GO:0005856 Component Cytoskeleton IEA
GO:0005929 Component Cilium IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619347 26900 ENSG00000173013
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q2M329
Protein name Cilia- and flagella-associated protein 184
Protein function 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 regulatory complex (N-DRC). The complex is positioned parallel to N-DRC and forms a connection
PDB 8J07
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13870 DUF4201 365 541 Domain of unknown function (DUF4201) Coiled-coil
Sequence
MDVSSEHTKDPGGEGGDGESLAARPSKIKASSGPPTSPEPGELESEPEEEEEEQAASQGG
TAADEQAEAPKGLTAAEAAGEEGPGEPGRPAEPQPEPEEPAEVGAEEPAQPEPGAGPEEL
EAEAGAEELEQAAEGKEVRFQASLPLTRIDEEEAAAAPEAETERVEGEEEDKEETQRDGA
ESKERDGEGRPAKSQEEGKRLYGRDEFEDLEWSEEVQKLQEQQLRSDLLDQYRSLLVERN
RSQRYNLYLQHKIFEALRRKKGLEAAEVADRGAEAEAPEKEQAYLRHLGMLEELKKQQAD
DLQWYHQELGQLKRQCQEKLTRVEKEWRRFQALKKQVVMQAMGSCRMRGGRQAALREVEQ
IQALEDKKEKEMSAVRLENIQLKQSLVHFETRMRTQEDLTQGLLLIDFEQLKIENQTFNE
KIEERNEELLKLRSKVTNSVQVITHVKEKLHFMDMENACKKTQLAEIEAQAALGRDILTK
TKQAREGLRTDNIRLNQKCGLLGKDSLLRDLEEKVDKTELLHRRLESLKRHHASLTLSCR
G
VRQKIREAKAFLPS
Sequence length 555
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Orofaciodigital syndrome Uncertain significance rs1723504197 RCV001175197