CFAP44 (cilia and flagella associated protein 44)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55779
Gene name Gene Name - the full gene name approved by the HGNC.
Cilia and flagella associated protein 44
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CFAP44
Synonyms (NCBI Gene) Gene synonyms aliases
SPGF20, WDR52
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q13.2
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(6)
SNP ID Visualize variation Clinical significance Consequence
rs762760856 A>T Pathogenic Missense variant, coding sequence variant
rs780798708 AT>- Pathogenic Frameshift variant, coding sequence variant
rs866096259 C>A,T Pathogenic Missense variant, stop gained, coding sequence variant
rs1262272674 G>A,C Pathogenic Coding sequence variant, stop gained, genic downstream transcript variant, missense variant
rs1553756374 ATCAAAATCC>- Pathogenic Splice acceptor variant, coding sequence variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(5)
miRTarBase ID miRNA Experiments Reference
MIRT755217 hsa-miR-548c-3p PAR-CLIP 22100165
MIRT755218 hsa-miR-548an PAR-CLIP 22100165
MIRT755219 hsa-miR-5681a PAR-CLIP 22100165
MIRT755220 hsa-miR-6730-5p PAR-CLIP 22100165
MIRT755221 hsa-miR-488-3p PAR-CLIP 22100165
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(15)
GO ID Ontology Definition Evidence Reference
GO:0000226 Process Microtubule cytoskeleton organization IDA 28887034
GO:0000902 Process Cell morphogenesis IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005737 Component Cytoplasm IEA
GO:0005856 Component Cytoskeleton IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
617559 25631 ENSG00000206530
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q96MT7
Protein name Cilia- and flagella-associated protein 44 (WD repeat-containing protein 52)
Protein function Flagellar protein involved in sperm flagellum axoneme organization and function.
PDB 8J07
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 565 → 603 WD domain, G-beta repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Testis-specific. {ECO:0000269|PubMed:29449551}.
Sequence 
MKEPDDQDTDGEKSVTSKSDGKKSLRSSKSESRSPVQEDNTFLEDDTDETFTKGEGSYLE
EDSDEERLEGSLSSFQYGDLQSTTVPQQTPAPAVEEAEEEVKKKISESFFYDYMELASMP
FVTLDSNIPLDLLTLVHSFGYDCRKRANLQLLDDSIAIYIAGNQLIFLNLKTKEQIYLRS
SSGEGIGVIGVHPHKTYFTVAEKGSFPDIIIYEYPSLRPYRVLRDGTEKGYAYVDFNYSG
NLLASVGSNPDYTLTIWNWKEEQPILRTKAFSQEVFKVTFNPDKEEQLTTSGSGHIKFWE
MAFTFTGLKLQGSLGRFGKTITTDIEGYMELPDGKVLSGSEWGNMLLWEGGLIKVELCRG
TSKSCHNGPINQIMLYEGEVITVGSDGYVRIWDFETIDTADVIDETGLLEIEPINELQVD
KNVNLFSMIKMNETGNNFWLAQDANGAIWKLDLSFSNITQDPECLFSFHSGAIEAVAVSP
LTYLMATTALDCSVRIYDFASKTPLAQMKFKQGGTALVWVPRMVNFTGAQIIVGFEDGVV
RILELYDPKGLTIFAGRKKILDADIQLKQVFKPHTACVTALAYERDGEILATGSKDQTVF
FFEVERDYKPIGYINTPGPVCQLMWSPMSHPESTLLIICENGYILEAPLPTIKQEEDDHD
VVSYEIKDMCIKCFHFSSVKSKILRLIEIEKRERQRELKEKIREERRNKLAAEMGEDGEK
EFQEEEEEKEEEEEEEEPLPEIFIPSTPSPILCGFYSEPGKFWVSLGGYDSGFLYHCEFP
PCDESSDFKEQKDEPIDVRYLADTEDNPIQTITFNINKVMMFCGMKNGAIRVYVLNQNDP
SLTSLVDYWHFNMHDNNYGCIKSIANSFDDRFLVTAGADGNIFVFNIFSEFMLRKDMKAK
VPSPRFGIETEPIPEDIEDPKAYSIENARRKREHDKLMKEVGEIKARKREQIKALRSEFC
NLLEMNEKLPKHMQFKRTDFDVDSQIRAEMHRKTAFKIQQVEKELAWEKEKHELGLMKLK
NRFRDPLESDTIVVHAILSDHKISSYRLVQPSKYSKFKRASQSERKPSKLDRFEKEGPGR
KDSQRDAGGSVTIQEESIIEKGKKFRPKTLSEIIVENQIEKTRKLILKAERAQLKIQQRK
KEWEELYKSKPGDDYEDPKDLQAIKEAQVYMGDFNLKTAPDYKIPEHMRINAAKKEEELG
HLDSLVHGNKRHMNKCILSLRDLKVAVVEEIQCLVQELKNIQSTLHISKHIPIPKIPQIH
PEEVPEKRFQYDEETLLNFKQQQMKSKDEKSPGVEQTGSGGPVGGFLKLSSRKDGDLTTR
DSISRSSKASTFSLDIPKCLEFEKAEPTDVELEIMKRDEIKHVYMQQYLVNRIKELVVTF
DAELRLLRHQKLKLDTQMKLSDLHHVTLFQEILLLKNFEKQENILQERVNSLDKEEQYMQ
WKINETLKEMEEKKNEITKLQEQEKALYAGFQAAIGENNKFANFLMKVLKKKIKRVKKKE
VEGDADEDEESEESSEEESSLESDEDESESEDEVFDDSICPTNCDVALFELALHLREKRL
DIEEALVEEKKIVDNLKKEYDTLSKKVKIVATNLNAAEEALEAYQREKQQRLNELLVVIP
LKLHQIEYVVFGEIPSDLSGTLVFSNHALRRLQERIHELQEENSKQQKLNKEWRERRKQL
IREKREMTKTIHKMEETVRQLMISKFGRVVNLEALQTLSVNTTLEELKIRKLRKELANAK
EMKMWEEKIAQMRWELMMKTKEHTRKLYQMNDLCIEKKKLDSRLNTLQNQQGNAFQGPRE
ADVVAREEVTELIQLQAERISALKEEIALLRRKGSLILPPIQSPREKEIQPADL
Sequence length 1854
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 miRNA 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 20 rs780798708, rs1553756374, rs762760856, rs866096259, rs1262272674, rs1553756824 N/A
Show/Hide Unknown Diseases (5)
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
Colorectal Cancer Colorectal cancer N/A N/A GWAS
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
Periodontal Diseases Periodontal disease N/A N/A GWAS
Show/Hide Text Mining Associations (1)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Ocular Motility Disorders Associate 34089056