Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID	79846
Gene name	Cilia and flagella associated protein 69
Gene symbol	CFAP69
Synonyms (NCBI Gene)	C7orf63FAP69SPGF24
Chromosome	7
Chromosome location	7q21.13

Show/Hide all (4)

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

Show/Hide all (27)

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

MIM	HGNC	e!Ensembl
617949	26107	ENSG00000105792

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

Family and domains

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

Interactions

View interactions

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Spermatogenic failure 24	Pathogenic	rs1554359685, rs1554359569, rs764048407, rs1355278372	RCV000626474 RCV000626475 RCV000770754 RCV000770755

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
CFAP69-related disorder	Benign; Likely benign	rs1029365, rs7803620, rs1134956, rs3761805, rs150000646, rs199768856, rs200376912, rs754902261, rs17865323, rs17866223, rs149099697, rs151205971, rs138300755, rs188534119	RCV003980691 RCV003980692 RCV003980693 RCV003984711 RCV003941864 RCV003971852 RCV003959123 RCV003976946 RCV003913221 RCV003913222 RCV004758062 RCV003940479 RCV004758063 RCV003940480

Show/Hide Text Mining Associations (2)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms	Associate	35528180
Prostatic Neoplasms	Associate	37008945

CFAP69 (cilia and flagella associated protein 69)