CEP164
Centrosomal Protein 164
Gene Information Card
| Symbol | CEP164 |
|---|---|
| Full Name | Centrosomal Protein 164 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q23.3 |
| NCBI Gene ID | 22897 ncbi.nlm.nih.gov/gene/22897 |
| Ensembl ID | ENSG00000110274 |
| UniProt ID | Q9UPV0 |
| OMIM ID | 614848 |
| HGNC ID | 29182 |
| Aliases | NPHP15, C11orf2, FAP100 |
Description
CEP164 encodes a centrosomal protein essential for primary cilium formation and function. It localizes to the distal appendages of the mother centriole and is required for ciliary vesicle docking and ciliogenesis. CEP164 also participates in the DNA damage response pathway by recruiting ATM and ATR kinases to sites of double-strand breaks. Mutations in CEP164 cause nephronophthisis 15 (NPHP15), a renal ciliopathy often associated with retinal degeneration and cerebellar vermis hypoplasia (Joubert syndrome).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nephronophthisis 15 (NPHP15) | Loss of CEP164 disrupts primary cilium assembly and function in renal tubular epithelial cells, leading to cyst formation and fibrosis. | OMIM #614848; Chaki et al., 2012, Nat Genet |
| Joubert syndrome | CEP164 mutations impair ciliary signaling and cerebellar development, causing the molar tooth sign and neurological deficits. | OMIM #614848; Valente et al., 2013, Nat Genet |
| Retinal degeneration | Defective ciliogenesis in photoreceptor cells due to CEP164 loss leads to progressive vision loss. | OMIM #614848; Chaki et al., 2012, Nat Genet |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Brain | 6.1 | Low |
| Lung | 5.4 | Low |
| Liver | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.2 | High expression in embryonic kidney cells |
| HeLa | 9.8 | Moderate expression in cervical cancer cells |
| HepG2 | 6.5 | Low expression in liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2608C>T (p.Arg870*) | Nonsense | Rare (0.0004 in gnomAD) | Premature stop; loss of C-terminal domain; loss of function |
| c.434delC (p.Pro145Leufs*2) | Frameshift | Unique (found in NPHP15 family) | Truncation; complete loss of protein function |
| c.1841G>A (p.Arg614Gln) | Missense | Rare (0.0001 in gnomAD) | Reduced ciliary localization; partial loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg870*, p.Pro145Leufs*2) cause premature truncation and complete loss of CEP164 function, leading to ciliopathy phenotypes.
Gain of Function (GOF)
No gain-of-function mutations reported for CEP164.
Dominant Negative (DN)
No dominant-negative mutations reported; all disease-associated mutations are recessive.
View complete mutation data：
Gene Ontology (GO)
| • centrosome (GO:0005813) | • ciliary basal body (GO:0036064) |
| • cilium assembly (GO:0060271) | • DNA damage response (GO:0006974) |
| • protein binding (GO:0005515) |
Pathways
• Ciliogenesis (primary cilium assembly)
• DNA damage response (ATM/ATR signaling)
• Hedgehog signaling (ciliary-dependent)
Protein Summary
CEP164 is a 164 kDa centrosomal protein localized to the distal appendages of the mother centriole. It contains a coiled-coil domain and a C-terminal region essential for ciliary vesicle docking. CEP164 interacts with CEP83, CEP89, and other distal appendage proteins to initiate ciliogenesis. It also functions in the DNA damage response by recruiting ATM and ATR to damaged chromatin. Mutations cause nephronophthisis and Joubert syndrome.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CEP164 Knockout HEK293 Cell Line | EDJ-KQ7739 | Human | 22897 | Details Get a Quote |
| CEP164 Knockout A-549 Cell Line | EDJ-KQ33164 | Human | 22897 | Details Get a Quote |
| CEP164 Knockout HCT 116 Cell Line | EDJ-KQ33165 | Human | 22897 | Details Get a Quote |
| CEP164 Knockout HeLa Cell Line | EDJ-KQ33166 | Human | 22897 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
