CFAP69 (cilia and flagella associated protein 69)

Gene

• Entrez ID: 79846
• Gene name: Cilia and flagella associated protein 69
• Gene symbol: CFAP69
• Synonyms (NCBI Gene): C7orf63, FAP69, SPGF24
• Chromosome: 7
• Chromosome location: 7q21.13

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs764048407	->AC	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1355278372	G>A	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs1554359569	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant, non coding transcript variant
rs1554359685	G>A	Pathogenic	Intron variant, splice donor variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005737	Component	Cytoplasm	IDA	29606301
GO:0005929	Component	Cilium	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007288	Process	Sperm axoneme assembly	IEA
GO:0007288	Process	Sperm axoneme assembly	IMP	30415212
GO:0007608	Process	Sensory perception of smell	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0030317	Process	Flagellated sperm motility	IMP	30415212
GO:0031514	Component	Motile cilium	IEA
GO:0042048	Process	Olfactory behavior	IBA
GO:0042048	Process	Olfactory behavior	IEA
GO:0042048	Process	Olfactory behavior	ISS
GO:0042995	Component	Cell projection	IEA
GO:0097225	Component	Sperm midpiece	IBA
GO:0097225	Component	Sperm midpiece	IDA	29606301, 30415212
GO:0097730	Component	Non-motile cilium	IBA
GO:0097730	Component	Non-motile cilium	IEA
GO:0097730	Component	Non-motile cilium	ISS
GO:1902093	Process	Positive regulation of flagellated sperm motility	IBA
GO:1902093	Process	Positive regulation of flagellated sperm motility	IEA
GO:1902093	Process	Positive regulation of flagellated sperm motility	ISS
GO:1905516	Process	Positive regulation of fertilization	IEA
GO:1905516	Process	Positive regulation of fertilization	ISS
GO:1990834	Process	Response to odorant	IBA
GO:1990834	Process	Response to odorant	IEA
GO:1990834	Process	Response to odorant	ISS

Other IDs

• MIM: 617949
• HGNC: 26107
• e!Ensembl: ENSG00000105792

Protein

• UniProt ID: A5D8W1
• Protein name: Cilia- and flagella-associated protein 69
• Protein function: Cilium- and flagellum-associated protein (PubMed:29606301). In the olfactory epithelium, regulates the speed of activation and termination of the odor response and thus contributes to the robustness of olfactory transduction pathways (By similar
• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in the testis, specifically in sperm (at protein level) (PubMed:29606301). Expressed in the brain, kidney, liver, lung, and intestine (PubMed:29606301). {ECO:0000269|PubMed:29606301}.
• Sequence:

  MWTEEAGATAEAQESGIRNKSSSSSQIPVVGVVTEDDEAQDVFKPMDLNRVIKLLEETDK
  DGLEEKQLKFVKKLVQCYQNGLPLRDLAQIFKILNLCSGKIKNQPRFIESAYDIIKLCGL
  PFLKKKVSDEITYAEDTANSIALLGDLMKIPSSELRIQICKCIVDFYHAEPPKKHIPGYQ
  QASSSYKIQMAEVGGLAKTMVQSMTLLENQLVEKLWVLKVLQHLSTSEVNCTIMMKAQAA
  SGICTHLNDPDPSGQLLFRSSEILWNLLEKSSKEEVIQQLSNLECLLALKEVFKNLFMRG
  FSHYDRQLRNDILVITTIIAQNPEAPMIECGFTKDLILFATFNEVKSQNLLVKGLKLSNS
  YEDFELKKLLFNVIVILCKDLPTVQLLIDGKVILALFTYVKKPEKQKIIDWSAAQHEELQ
  LHAIATLSSVAPLLIEEYMSCQGNARVLAFLEWCESEDPFFSHGNSFHGTGGRGNKFAQM
  RYSLRLLRAVVYLEDETVNKDLCEKGTIQQMIGIFKNIISKPNEKEEAIVLEIQSDILLI
  LSGLCENHIQRKEIFGTEGVDIVLHVMKTDPRKLQSGLGYNVLLFSTLDSIWCCILGCYP
  SEDYFLEKEGIFLLLDLLALNQKKFCNLILGIMVEFCDNPKTAAHVNAWQGKKDQTAASL
  LIKLWRKEEKELGVKRDKNGKIIDTKKPLFTSFQEEQKIIPLPANCPSIAVMDVSENIRA
  KIYAILGKLDFENLPGLSAEDFVTLCIIHRYLDFKIGEIWNEIYEEIKLEKLRPVTTDKK
  ALEAITTASENIGKMVASLQSDIIESQACQDMQNEQKVYAKIQATHKQRELANKSWEDFL
  ARTSNAKTLKKAKSLQEKAIEASRYHKRPQNAIFHQTHIKGLNTTVPSGGVVTVESTPAR
  LVGGPLVDTDIALKKLPIRGGALQRVKAVKIVDAPKKSIPT

• Sequence length: 941

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
Spermatogenic failure 24	Pathogenic	rs1554359685, rs1554359569, rs764048407, rs1355278372	RCV000626474 RCV000626475 RCV000770754 RCV000770755	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CFAP69-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL IMPAIRMENT OF SPERMATOZOA MOTILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Asthenozoospermia	Asthenozoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	LHGDN	18288132		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35528180	Associate	★☆☆☆☆ Found in Text Mining only
Non-syndromic male infertility due to sperm motility disorder	Non-Syndromic Male Infertility Due To Sperm Motility Disorder	Orphanet			★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37008945	Associate	★☆☆☆☆ Found in Text Mining only
SPERMATOGENIC FAILURE 24	Spermatogenic Failure	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)