CFAP410: Cilia and Flagella Associated Protein 410
A gene encoding a centrosomal protein involved in ciliogenesis and associated with skeletal ciliopathies and cancer
Gene Information Card
| Symbol | CFAP410 |
|---|---|
| Full Name | Cilia and Flagella Associated Protein 410 |
| Gene Type | Protein coding |
| Chromosomal Location | 21q22.3 |
| NCBI Gene ID | 755 ncbi.nlm.nih.gov/gene/755 |
| Ensembl ID | ENSG00000160224 |
| UniProt ID | Q9Y6K1 |
| OMIM ID | 603191 |
| HGNC ID | 1420 |
| Aliases | C21orf2, C21orf2, C21orf2, C21orf2, C21orf2 |
Description
CFAP410 (Cilia and Flagella Associated Protein 410), formerly known as C21orf2, encodes a centrosomal protein essential for ciliogenesis. It localizes to the centrosome and basal body, interacting with other ciliary proteins to regulate microtubule organization and ciliary assembly. Mutations in CFAP410 cause autosomal recessive spondylometaphyseal dysplasia with cone-rod dystrophy (SMD-CRD) and axial spondylometaphyseal dysplasia. The gene is also implicated in cancer through altered expression and somatic mutations.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spondylometaphyseal dysplasia with cone-rod dystrophy (SMD-CRD) | Loss-of-function mutations in CFAP410 disrupt ciliary function, leading to skeletal abnormalities and retinal degeneration. | OMIM #602271; multiple case reports (e.g., PMID: 28125082) |
| Axial spondylometaphyseal dysplasia | Biallelic CFAP410 mutations impair ciliogenesis, causing vertebral and metaphyseal dysplasia. | OMIM #602271; PMID: 28125082 |
| Retinitis pigmentosa | CFAP410 mutations can cause retinal ciliopathy, leading to progressive photoreceptor degeneration. | ClinVar; PMID: 28125082 |
| Cancer (various) | Somatic mutations and altered expression of CFAP410 have been reported in lung, breast, and colorectal cancers, potentially affecting centrosome function and genomic stability. | COSMIC; PMID: 25631445 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Retina | 8.3 | Medium |
| Lung | 6.1 | Medium |
| Brain | 4.2 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.2 | Cervical cancer cell line |
| HEK293 | 8.7 | Embryonic kidney cells |
| A549 | 7.5 | Lung carcinoma cell line |
| MCF7 | 5.9 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.335G>A (p.Arg112His) | Missense | Rare (0.0002 in gnomAD) | Likely loss-of-function; associated with SMD-CRD |
| c.418C>T (p.Arg140*) | Nonsense | Rare | Loss-of-function; truncating protein, causes SMD-CRD |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss-of-function; abolishes translation initiation |
| c.632_633del (p.Glu211Valfs*2) | Frameshift | Rare | Loss-of-function; premature stop, associated with SMD-CRD |
Mutation functional classification
Loss of Function (LOF)
Most CFAP410 mutations are loss-of-function (nonsense, frameshift, missense) leading to impaired ciliogenesis and skeletal/retinal phenotypes.
Gain of Function (GOF)
No gain-of-function mutations reported in CFAP410.
Dominant Negative (DN)
No dominant-negative mutations reported; disease inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • centrosome (GO:0005813) | • cilium (GO:0005929) |
| • cilium assembly (GO:0060271) | • protein binding (GO:0005515) |
| • centriole (GO:0005814) | • ciliary basal body (GO:0036064) |
Pathways
• Ciliogenesis (REACT: R-HSA-5617833)
• Centrosome maturation (REACT: R-HSA-380270)
Protein Summary
CFAP410 encodes a 410-amino acid protein (UniProt Q9Y6K1) that localizes to the centrosome and basal body. It interacts with CEP290, C2CD3, and other ciliary proteins to promote ciliogenesis. The protein contains a coiled-coil domain and is involved in microtubule anchoring and centriole duplication. Loss of CFAP410 disrupts primary cilium formation, leading to skeletal and retinal ciliopathies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CFAP410 Knockout HEK293 Cell Line | EDJ-KQ4173 | Human | 755 | Details Get a Quote |
| CFAP410 Knockout A-549 Cell Line | EDJ-KQ26612 | Human | 755 | Details Get a Quote |
| CFAP410 Knockout HCT 116 Cell Line | EDJ-KQ26613 | Human | 755 | Details Get a Quote |
| CFAP410 Knockout HeLa Cell Line | EDJ-KQ26614 | Human | 755 | Details Get a Quote |
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