CFAP77 (cilia and flagella associated protein 77)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
389799
Gene name Gene Name - the full gene name approved by the HGNC.
Cilia and flagella associated protein 77
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CFAP77
Synonyms (NCBI Gene) Gene synonyms aliases
C9orf171
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q34.13
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(14)
miRTarBase ID miRNA Experiments Reference
MIRT717996 hsa-miR-596 HITS-CLIP 19536157
MIRT717995 hsa-miR-6808-5p HITS-CLIP 19536157
MIRT717994 hsa-miR-6893-5p HITS-CLIP 19536157
MIRT717993 hsa-miR-940 HITS-CLIP 19536157
MIRT717992 hsa-miR-18a-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(15)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956
GO:0005737 Component Cytoplasm IEA
GO:0005856 Component Cytoskeleton IEA
GO:0005879 Component Axonemal microtubule IDA 36191189
GO:0005929 Component Cilium IDA 28282151
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
621136 33776 ENSG00000188523
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q6ZQR2
Protein name Cilia- and flagella-associated protein 77
Protein function Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating.
PDB 7UNG , 8J07
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14825 DUF4483 100 → 240 Domain of unknown function (DUF4483) Family
Tissue specificity TISSUE SPECIFICITY: Expressed in airway epithelial cells. {ECO:0000269|PubMed:36191189}.
Sequence 
MPEARSSGPDLTRWRKQQQPVRRTVSQVCPPPRRPLTVADIRSGMENERLGVVRDSMFQN
PLIVKAAGPASVGTSYSVYDSSAVQKVIPSLAGHHIKGGPQAELGKPRERSYSLPGINFN
YGLYIRGLDGGVPEAIGRWNVFKQQPTCPHELTRNYIAMNRGAVKAGLVTARENLLYRQL
NDIRISDQDDRRMKKEPPPLPPNMTFGIRARPSTPFFDLLQHRYLQLWVQEQKATQKAIK
LEKKQKVVLGKLYETRSSQLRKYKPPVKLDTLWHMPHFQKVGRHLDTFPTEADRQRALKA
HREECAVRQGTLRMGNYTHP
Sequence length 320
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 miRNA Gene ontology Other IDs Protein Associated diseases
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
Ischemic Stroke Ischemic stroke 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
Opioid Related Disorders Associate 30874594