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)
End	44,339,402 bp
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)
End	77,822,739 bp
RNA expression pattern
	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
	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
	755
	67884
	ENSG00000160226
	ENSMUSG00000020284
	O43822
	Q8C6G1
	NM_001271440; NM_001271441; NM_001271442; NM_004928
	NM_026431
	NP_001258369; NP_001258370; NP_001258371; NP_004919
	NP_080707
	Wikidata
View/Edit Human	View/Edit Mouse

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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000160226 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000020284 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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.
^ 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.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000160226 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid26167768-5] 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.

[pmid38405922-6] 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.

[pmid39703094-7] 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.

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