SDCCAG8
Serologically Defined Colon Cancer Antigen 8
Gene Information Card
| Symbol | SDCCAG8 |
|---|---|
| Full Name | Serologically Defined Colon Cancer Antigen 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q43-q44 |
| NCBI Gene ID | 10806 ncbi.nlm.nih.gov/gene/10806 |
| Ensembl ID | ENSG00000143178 |
| UniProt ID | Q86SQ7 |
| OMIM ID | 613524 |
| HGNC ID | 10671 |
| Aliases | NPHP10, SLSN7, CCCAP, HSPC229, NY-CO-8, hSDCCAG8 |
Description
SDCCAG8 encodes a centrosomal protein involved in ciliogenesis and cell cycle regulation. Mutations in this gene cause nephronophthisis-related ciliopathies, including Senior-Løken syndrome type 7 and Bardet-Biedl syndrome. The protein localizes to the centrosome and interacts with other ciliary proteins to maintain primary cilium function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nephronophthisis 10 | Loss of SDCCAG8 disrupts ciliary signaling and renal tubular structure | OMIM #613524 |
| Senior-Løken syndrome 7 | Defective ciliary function leads to retinal degeneration and renal fibrosis | OMIM #613615 |
| Bardet-Biedl syndrome 16 | Impaired centrosomal protein complex affects ciliary transport | OMIM #615993 |
| Retinitis pigmentosa | Ciliary dysfunction in photoreceptor cells causes progressive vision loss | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 20.1 | High |
| Kidney | 12.3 | Medium |
| Retina | 9.8 | Medium |
| Brain | 6.5 | Low |
| Lung | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | Embryonic kidney cells |
| ARPE-19 | 11.2 | Retinal pigment epithelial cells |
| HeLa | 8.7 | Cervical cancer cells |
| HepG2 | 5.3 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1306C>T (p.Arg436*) | Nonsense | Rare | Premature truncation, loss of function |
| c.1150_1151del (p.Leu384Valfs*2) | Frameshift | Rare | Loss of protein function |
| c.1645G>A (p.Gly549Arg) | Missense | Rare | Impaired centrosomal localization |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations cause premature termination codons, leading to nonsense-mediated decay or truncated nonfunctional protein.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
Not described; disease inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • Centrosome | • Cilium assembly |
| • Cell cycle | • Protein binding |
| • Cytoplasm |
Pathways
• Ciliopathy
• Centrosome cycle
• Hedgehog signaling
Protein Summary
SDCCAG8 is a 714-amino-acid centrosomal protein that localizes to the basal body of primary cilia. It interacts with OFD1, CEP290, and other ciliopathy-associated proteins to regulate ciliogenesis and cell cycle progression. Loss of function leads to ciliary defects and multisystem disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SDCCAG8 Knockout HEK293 Cell Line | EDJ-KQ7176 | Human | 10806 | Details Get a Quote |
| SDCCAG8 Knockout A-549 Cell Line | EDJ-KQ32101 | Human | 10806 | Details Get a Quote |
| SDCCAG8 Knockout HeLa Cell Line | EDJ-KQ32103 | Human | 10806 | Details Get a Quote |
| SDCCAG8 Knockout HCT 116 Cell Line | EDJ-KQ30725 | Human | 10806 | Details Get a Quote |
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