CFAP418 (cilia and flagella associated protein 418)

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
157657
Gene name Gene Name - the full gene name approved by the HGNC.
Cilia and flagella associated protein 418
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CFAP418
Synonyms (NCBI Gene) Gene synonyms aliases
BBS21, C8orf37, CORD16, FAP418, MOT25, RP64, smalltalk
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q22.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a ubiquitously expressed protein of unknown function. It has high levels of mRNA expression in the brain, heart, and retina and the protein co-localizes with polyglutamylated tubulin at the base of the primary cilium in human retinal pig
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(9)
SNP ID Visualize variation Clinical significance Consequence
rs143893647 A>C Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs387907136 G>A Likely-pathogenic, pathogenic Coding sequence variant, missense variant
rs387907137 T>C Pathogenic Coding sequence variant, missense variant
rs748014296 C>T Pathogenic Coding sequence variant, stop gained
rs766087213 T>A Pathogenic Coding sequence variant, stop gained
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(7)
GO ID Ontology Definition Evidence Reference
GO:0001917 Component Photoreceptor inner segment IEA
GO:0001917 Component Photoreceptor inner segment ISS
GO:0005515 Function Protein binding IPI 27173435, 36233334
GO:0005737 Component Cytoplasm IDA 22177090
GO:0005737 Component Cytoplasm IEA
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
614477 27232 ENSG00000156172
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Q96NL8
Protein name Cilia- and flagella-associated protein 418
Protein function May be involved in photoreceptor outer segment disk morphogenesis (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14996 RMP 55 → 207 Retinal Maintenance Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed, with highest levels in heart and brain. Also expressed in the retina (at protein level). {ECO:0000269|PubMed:22177090}.
Sequence
Sequence length 207
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 (4)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Bardet-Biedl Syndrome bardet-biedl syndrome 21 rs766087213, rs1587357327, rs387907136, rs751922029 N/A
Cone-rod dystrophy cone-rod dystrophy 16 rs1064792853, rs1085307121, rs387907136 N/A
retinal dystrophy Retinal dystrophy rs387907136 N/A
Retinitis Pigmentosa retinitis pigmentosa 64, Autosomal recessive retinitis pigmentosa, retinitis pigmentosa rs1064792852, rs387907136, rs387907137, rs1060505042, rs748014296 N/A
Show/Hide Unknown Diseases (4)
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
Anorexia Anorexia nervosa N/A N/A GWAS
Borderline personality disorder Borderline personality disorder N/A N/A GWAS
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Mental Depression Major depressive disorder N/A N/A GWAS