CFAP221 (cilia and flagella associated protein 221)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
200373
Gene name Gene Name - the full gene name approved by the HGNC.
Cilia and flagella associated protein 221
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CFAP221
Synonyms (NCBI Gene) Gene synonyms aliases
CILD55, FAP221, PCDP1
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q14.2
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(6)
GO ID Ontology Definition Evidence Reference
GO:0003341 Process Cilium movement IEA
GO:0005516 Function Calmodulin binding ISS
GO:0005929 Component Cilium ISS
GO:0005930 Component Axoneme ISS
GO:0044458 Process Motile cilium assembly IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
618704 33720 ENSG00000163075
Protein
Gene Gene ontology Other IDs Protein Associated diseases
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.
Family and domains
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
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (3)
Causal
Disease term Disease name dbSNP ID References
Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder rs786205019 18839057
Ciliary dyskinesia Primary Ciliary Dyskinesia, Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus, Primary ciliary dyskinesia rs397515339, rs267607225, rs267607226, rs786205052, rs267607227, rs118204041, rs118204042, rs118204043, rs137853191, rs121434369, rs397515565, rs397515358, rs137852998, rs397515363, rs79833450
View all (813 more)		 31636325
Kartagener syndrome Kartagener Syndrome, Polynesian Bronchiectasis rs397515339, rs267607227, rs137853191, rs397515363, rs606231164, rs79833450, rs606231165, rs387907021, rs147718607, rs397515563, rs138815960, rs587777047, rs138320978, rs587777059, rs151107532
View all (17 more)		 31636325
Show/Hide Unknown Diseases (3)
Unknown
Disease term Disease name Evidence References Source
Chronic obstructive pulmonary disease Chronic Obstructive Airway Disease 25241909 ClinVar
Attention Deficit Hyperactivity Disorder Attention Deficit Hyperactivity Disorder GWAS
Bipolar Disorder Bipolar Disorder GWAS
Show/Hide Text Mining Associations (2)
Associations from Text Mining
Disease Name Relationship Type References
Ciliary Motility Disorders Associate 31636325, 40250778
Nasopharyngeal Carcinoma Associate 31863646