CEP19
Centrosomal Protein 19
Gene Information Card
| Symbol | CEP19 |
|---|---|
| Full Name | Centrosomal Protein 19 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q29 |
| NCBI Gene ID | 84984 ncbi.nlm.nih.gov/gene/84984 |
| Ensembl ID | ENSG00000163874 |
| UniProt ID | Q96LK0 |
| OMIM ID | 615587 |
| HGNC ID | 28209 |
| Aliases | C3orf34, MBO1 |
Description
CEP19 encodes a centrosomal protein involved in primary cilium assembly and function. It localizes to the centrosome and is required for ciliogenesis. Mutations in CEP19 are associated with morbid obesity and ciliopathy phenotypes, including impaired glucose metabolism and insulin resistance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Morbid obesity (ciliopathy) | Loss-of-function mutations disrupt ciliary transport, impairing leptin signaling and energy homeostasis | OMIM #615587; ClinVar |
| Metabolic syndrome | Defective cilia in hypothalamic neurons alter appetite regulation and insulin sensitivity | OMIM; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Adipose tissue | 6.1 | Low |
| Liver | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.0 | Moderate expression |
| HEK293 | 10.5 | Detectable |
| HepG2 | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113*) | Nonsense | Rare | Premature stop, loss of protein function |
| c.1A>G (p.Met1?) | Start loss | Rare | No translation initiation, complete loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to truncated or absent CEP19 protein, disrupting ciliogenesis.
Gain of Function (GOF)
None reported.
Dominant Negative (DN)
None reported.
View complete mutation data：
Gene Ontology (GO)
| • centrosome (GO:0005813) | • ciliary basal body (GO:0036064) |
| • cilium assembly (GO:0060271) | • protein binding (GO:0005515) |
Pathways
• Ciliogenesis
• Centrosome cycle
Protein Summary
CEP19 is a 19 kDa centrosomal protein that localizes to the basal body of primary cilia. It interacts with other ciliary proteins to facilitate intraflagellar transport and ciliary membrane docking. Loss of CEP19 function leads to defective cilia, contributing to obesity and metabolic disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CEP19 Knockout HEK293 Cell Line | EDJ-KQ10298 | Human | 84984 | Details Get a Quote |
| CEP19 Knockout A-549 Cell Line | EDJ-KQ37573 | Human | 84984 | Details Get a Quote |
| CEP19 Knockout HCT 116 Cell Line | EDJ-KQ37574 | Human | 84984 | Details Get a Quote |
| CEP19 Knockout HeLa Cell Line | EDJ-KQ37575 | Human | 84984 | Details Get a Quote |
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