CFAP221 (cilia and flagella associated protein 221)

Gene

• Entrez ID: 200373
• Gene name: Cilia and flagella associated protein 221
• Gene symbol: CFAP221
• Synonyms (NCBI Gene): CILD55, FAP221, PCDP1
• Chromosome: 2
• Chromosome location: 2q14.2

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002177	Component	Manchette	IEA
GO:0002177	Component	Manchette	ISS
GO:0003341	Process	Cilium movement	IEA
GO:0005516	Function	Calmodulin binding	IEA
GO:0005516	Function	Calmodulin binding	ISS
GO:0005576	Component	Extracellular region	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	ISS
GO:0005930	Component	Axoneme	ISS
GO:0030030	Process	Cell projection organization	IEA
GO:0036126	Component	Sperm flagellum	IEA
GO:0042995	Component	Cell projection	IEA
GO:0044458	Process	Motile cilium assembly	IBA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	ISS
GO:0090660	Process	Cerebrospinal fluid circulation	IEA
GO:0097386	Component	Glial cell projection	IEA
GO:0097729	Component	9+2 motile cilium	IBA
GO:0097729	Component	9+2 motile cilium	IEA
GO:0120197	Process	Mucociliary clearance	IEA
GO:0120316	Process	Sperm flagellum assembly	IEA

Other IDs

• MIM: 618704
• HGNC: 33720
• e!Ensembl: ENSG00000163075

Protein

• UniProt ID: Q4G0U5
• Protein name: Cilia- and flagella-associated protein 221 (Primary ciliary dyskinesia protein 1)
• Protein function: May play a role in cilium morphogenesis.
• Tissue specificity: TISSUE SPECIFICITY: Expressed in ciliated respiratory epithelial cells and brain ependymal cells (at protein level). {ECO:0000269|PubMed:18039845}.
• Sequence:

  MAVVKTPSRGLKNAKEPFNNASPHLLKNLVEEPKKRKEVPNHLLESKVYAKLVNNKVIQA
  RPGIIHFGGYQVEKQHQQILHLVNVSNEDTRVHILPPQTKYFEINYVRKEHHLVPGLSLT
  VTVTFSPDEWRYYYDCIRVHCKGDDTLLVPIHAYPVMNSLDFPSFINLSNVLLGESKTYV
  IPLQCSCPVDFEFYITLIQSHQAFAIEPTSGIIPANGKMTVTIKFTPFQYGTAQIKMQLW
  ISQFNSQPYECVFTGTCYPNMALPLEEFERLNTLSKKVNVPPEKAMMHINFHRPPAKPKP
  QKVKEIEYQNLRFPVDLSNPFAVATVLNQEPGKLKIKELREVLDQGTEISKTRQMKEALF
  EQKVRQDIHEEMENHLKWQVHLGKDPMSFKLKKELTEEWQKACAKYKLDRGDPILDEEFQ
  RLKTEVSHKRVVRNQEEKIKEFHPTFDPLINNTWLSRSRAQKRFQQVARKVMIQGRLFNM
  LSAVREMDKESILRKIGQAKQSIAQEANFFKFFLRRISQDDYTSRFSVSPKEVLPFAFPD
  CSPPQDSNELAPDGLGLVPIKSSEVQIKQSYSFFNLQVPQLYKIKRYQPFSVHKSSTSYR
  PQKLARALKQGAEDEVTTITALPKQDSTTQLSGKTSVLSMKPPEALAMSLDYDPLYVFNP
  NPGLFAVMHPLTYAETLIDYHLCSHPKYKFTKESRHGSSIPVTQKQFLHHTDIIPGIMHW
  KSFQSLVLSSLPDPSKMETTKSCDSFNSFMLPIDVPAILDALPEEDRLETVERELCEQNV
  EVMLTPEMIKVEFPMLNYKDIRKEKEVKDQAQPAEKAGEKLLEEMRNLRGKALNTYLILE
  

• Sequence length: 840

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Primary ciliary dyskinesia	Likely pathogenic; Pathogenic	rs2104806661, rs759274091	RCV001849698 RCV001849699	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Young syndrome	Likely pathogenic; Pathogenic	rs2104806661, rs759274091	RCV005437953 RCV005437954	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CFAP221-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC BRONCHITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY MOTILITY DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	GWASDB_DG	18839057		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	GWASCAT_DG	18839057		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchitis, Chronic	Gastric Cancer	GWASCAT_DG	25241909		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	25241909		★☆☆☆☆ Found in Text Mining only
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus	Ciliary Dyskinesia	ORPHANET_DG	31636325		★☆☆☆☆ Found in Text Mining only
Ciliary Motility Disorders	Ciliary dyskinesia	Pubtator	31636325, 40250778	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kartagener Syndrome	Kartagener Syndrome	BEFREE	18039845, 31636325		★☆☆☆☆ Found in Text Mining only
Kartagener Syndrome	Kartagener Syndrome	ORPHANET_DG	31636325		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	31863646	Associate	★☆☆☆☆ Found in Text Mining only
Polynesian Bronchiectasis	Kartagener syndrome	ORPHANET_DG	31636325		★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	18039845, 31636325		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary Ciliary Dyskinesia	Ciliary dyskinesia	ORPHANET_DG	31636325		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary ciliary dyskinesia	Ciliary dyskinesia	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)