CFAP69 (cilia and flagella associated protein 69)

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79846
Gene name Gene Name - the full gene name approved by the HGNC.
Cilia and flagella associated protein 69
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CFAP69
Synonyms (NCBI Gene) Gene synonyms aliases
C7orf63, FAP69, SPGF24
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q21.13
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
617949 26107 ENSG00000105792
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
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
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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Spermatogenic Failure spermatogenic failure 24 rs1355278372, rs1554359685, rs1554359569, rs764048407 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Non-Syndromic Male Infertility Due To Sperm Motility Disorder non-syndromic male infertility due to sperm motility disorder N/A N/A GenCC
Show/Hide Text Mining Associations (2)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 35528180
Prostatic Neoplasms Associate 37008945