CFAP206 (cilia and flagella associated protein 206)

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Gene Gene information from NCBI Gene database.
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Entrez ID 154313
Gene name Cilia and flagella associated protein 206
Gene symbol CFAP206
Synonyms (NCBI Gene)
C6orf165dJ382I10.1
Chromosome 6
Chromosome location 6q15
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26 Show/Hide all (26)
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GO ID Ontology Definition Evidence Reference
GO:0001534 Component Radial spoke ISS
GO:0003341 Process Cilium movement ISS
GO:0003356 Process Regulation of cilium beat frequency IBA
GO:0003356 Process Regulation of cilium beat frequency IEA
GO:0003356 Process Regulation of cilium beat frequency ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IYR0
Protein name Cilia- and flagella-associated protein 206
Protein function Essential for sperm motility and is involved in the regulation of the beating frequency of motile cilia on the epithelial cells of the respiratory tract (By similarity). Required for the establishment of radial spokes in sperm flagella (By simil
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12018 FAP206 214 → 491 Domain of unknown function Family
Sequence 
MPPTQAESVIRSIIREIGQECAAHGEIVSETLIAFMVKAVVLDPSNGFNMDRTLMKSDVQ
NLVKLCMTRLLDTKNPSLDTIKMQVYFDMNYTNRVEFLEEHHRVLESRLGSVTREITDNR
ACAKEELESLYRKIISYVLLRSGLGSPTDIKTVREVTAALQSVFPQAELGTFLTLSKKDK
ERQLKELTMIVTGIRLFNRDCGKGGEGIDDLPAVLHVAIPATMQHIDYQLETARSQVYRY
TAILEKAANDPLMRAELQPYMLKEALYNIRQYEVFLQIILSDIITGAQEVEMMTKQLGAH
LEQLKMTIKSKIAVPTSQVFPIFIALSTLWTSLQDETIVVGVLSNLFTHIQPFLGAHELY
FPERVMQCHLNGATVKTDVCRMKEHMEDRVNVADFRKLEWLFPETTANFDKLLIQYRGFC
AYTFAATDGLLLPGNPAIGILKYKEKYYTFNSKDAAYSFAENPEHYIDIVREKAKKNTEL
IQLLELHQQFETFIPYSQMRDADKHYIKPITKCESSTQTNTHILPPTIVRSYEWNEWELR
RKAIKLANLRQKVTHSVQTDLSHLRRENCSQVYPPKDTSTQSMREDSTGVPRPQIYLAGL
RGGKSEITDEVKVNLTRDVDET
Sequence length 622
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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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 Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Abnormal sperm tail morphology Pathogenic rs751492244 RCV001328500
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anxiety Anxiety disorder Pubtator 38051303 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Depressive Disorder Major depressive disorder Pubtator 38051303 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only

No strongly related genes found yet for CFAP206.

No additional diseases found yet through genes similar to CFAP206.