CFAP410

CFAP410
Identifiers
Aliases	CFAP410 , LRRC76, YF5/A2, chromosome 21 open reading frame 2, RDMS, SMDAX, C21orf2, cilia and flagella associated protein 410, Cilia- and flagella-associated protein 410
External IDs	OMIM: 603191; MGI: 1915134; HomoloGene: 3619; GeneCards: CFAP410; OMA:CFAP410 - orthologs
Gene location (Human) Chr. Chromosome 21 (human) [1] Band 21q22.3 Start 44,328,944 bp [1] End 44,339,402 bp [1]
Gene location (Mouse) Chr. Chromosome 10 (mouse) [2] Band 10 C1|10 39.72 cM Start 77,814,358 bp [2] End 77,822,739 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right uterine tube anterior pituitary right frontal lobe right lobe of thyroid gland left lobe of thyroid gland nucleus accumbens C1 segment amygdala putamen apex of heart Top expressed in right kidney dentate gyrus of hippocampal formation granule cell superior frontal gyrus primary visual cortex spermatocyte proximal tubule granulocyte pituitary gland lens cumulus cell More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding molecular function Cellular component plasma membrane cytoplasm cell projection mitochondrion cytoskeleton photoreceptor outer segment photoreceptor connecting cilium ciliary basal body cilium motile cilium Biological process cell projection organization cytoskeleton organization regulation of cell shape cellular response to DNA damage stimulus smoothened signaling pathway cilium assembly motile cilium assembly cilium movement involved in cell motility Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 755 67884 Ensembl ENSG00000160226 ENSMUSG00000020284 UniProt O43822 Q8C6G1 RefSeq (mRNA) NM_001271440 NM_001271441 NM_001271442 NM_004928 NM_026431 RefSeq (protein) NP_001258369 NP_001258370 NP_001258371 NP_004919 NP_080707 Location (UCSC) Chr 21: 44.33 – 44.34 Mb Chr 10: 77.81 – 77.82 Mb PubMed search [3] [4]
Wikidata
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Cilia and Flagella Associated Protein 410 (CFAP410, also known as C21orf2 or LRRC76) is a protein that in humans is encoded by the CFAP410 gene. It is essential for ciliogenesis. ^[5] Mutations in CFAP410 have been linked to Jeune syndrome, Joubert syndrome, various ciliopathies, and amyotrophic lateral sclerosis. ^{[6] [7]}

References

1. GRCh38: Ensembl release 89: ENSG00000160226 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000020284 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TT, Racher H, et al. (2015-07-13). "An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes". Nat Cell Biol. 17 (8): 1074–1087. doi:10.1038/ncb3201. PMC   4536769 . PMID   26167768.
6. Sangermano R, Gupta P, Price C, Han J, Navarro J, Condroyer C, et al. (2024-11-08). "Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration". npj Genomic Medicine. 9 (1) 58. doi:10.1038/s41525-024-00439-3. PMC   11549414 . PMID   39516462.
7. De Decker M, Zelina P, Moens TG, Beckers J, Contardo M, Dittlau KS, et al. (2025-03-06). "C21ORF2 mutations point towards primary cilia dysfunction in amyotrophic lateral sclerosis". Brain. 148 (3): 803–816. doi:10.1093/brain/awae331. PMC   11884758 . PMID   39703094.