CFAP184 (cilia and flagella associated protein 184)

Gene

• 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

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
MIRT870677	hsa-miR-21	CLIP-seq
MIRT870678	hsa-miR-3121-3p	CLIP-seq
MIRT870679	hsa-miR-425	CLIP-seq
MIRT870680	hsa-miR-4328	CLIP-seq
MIRT870681	hsa-miR-433	CLIP-seq
MIRT870682	hsa-miR-4645-3p	CLIP-seq
MIRT870683	hsa-miR-514	CLIP-seq
MIRT870684	hsa-miR-514b-3p	CLIP-seq
MIRT870685	hsa-miR-548ad	CLIP-seq
MIRT870686	hsa-miR-577	CLIP-seq
MIRT870687	hsa-miR-590-5p	CLIP-seq
MIRT870688	hsa-miR-642b	CLIP-seq
MIRT870689	hsa-miR-671-5p	CLIP-seq
MIRT870674	hsa-miR-1253	CLIP-seq
MIRT870680	hsa-miR-4328	CLIP-seq
MIRT870681	hsa-miR-433	CLIP-seq
MIRT870682	hsa-miR-4645-3p	CLIP-seq
MIRT870683	hsa-miR-514	CLIP-seq
MIRT870684	hsa-miR-514b-3p	CLIP-seq

Gene ontology (GO)

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
GO:0005930	Component	Axoneme	IBA
GO:0036064	Component	Ciliary basal body	IBA
GO:0042995	Component	Cell projection	IEA
GO:0060271	Process	Cilium assembly	IBA

Other IDs

• MIM: 619347
• HGNC: 26900
• e!Ensembl: ENSG00000173013

Protein

• UniProt ID: 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
  GVRQKIREAKAFLPS

• Sequence length: 555

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Orofaciodigital syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROMES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Ciliopathies	Ciliopathy	Pubtator	32055034	Associate	★☆☆☆☆ Found in Text Mining only