CP (Ceruloplasmin) Gene
Key regulator of copper homeostasis and iron metabolism
Gene Information Card
| Symbol | CP |
|---|---|
| Full Name | ceruloplasmin |
| Gene Type | protein-coding |
| Chromosomal Location | 3q24-q25.1 |
| NCBI Gene ID | 1356 ncbi.nlm.nih.gov/gene/1356 |
| Ensembl ID | ENSG00000047457 |
| UniProt ID | P00450 |
| OMIM ID | 117700 |
| HGNC ID | 2295 |
| Aliases | CP-2, ferroxidase |
Description
The CP gene encodes ceruloplasmin, a copper-containing ferroxidase enzyme that plays a central role in copper transport and iron homeostasis. It oxidizes ferrous iron to ferric iron, facilitating iron loading onto transferrin for transport. Mutations in CP cause aceruloplasminemia, a disorder of iron overload leading to neurodegeneration and diabetes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Aceruloplasminemia | Loss-of-function mutations in CP impair ferroxidase activity, causing iron accumulation in brain and viscera | ClinVar, OMIM |
| Neurodegeneration with brain iron accumulation (NBIA) | Deficient ceruloplasmin leads to oxidative stress and iron deposition in basal ganglia | OMIM, PubMed |
| Copper metabolism disorders | Altered CP levels affect systemic copper distribution | UniProt, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 108.2 | High |
| Brain | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Lung | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 120.5 | Hepatocyte line, high expression |
| SH-SY5Y | 15.2 | Neuroblastoma line, moderate |
| HEK293 | 6.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2602G>A (p.Gly868Arg) | Missense | <0.01% | Loss of ferroxidase activity |
| c.3019_3021del (p.Phe1007del) | Deletion | Rare | Protein misfolding, reduced secretion |
| c.2140C>T (p.Arg714Trp) | Missense | <0.01% | Impaired copper binding |
Mutation functional classification
Loss of Function (LOF)
Most CP mutations result in loss of ferroxidase activity, leading to iron accumulation.
Gain of Function (GOF)
Not reported for CP.
Dominant Negative (DN)
Not established; aceruloplasminemia is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • ferroxidase activity (GO:0004322) | • copper ion binding (GO:0005507) |
| • cellular copper ion homeostasis (GO:0006878) | • iron ion transport (GO:0006826) |
| • oxidation-reduction process (GO:0055114) |
Pathways
• Copper homeostasis (Reactome R-HSA-936837)
• Iron uptake and transport (Reactome R-HSA-917937)
Protein Summary
Ceruloplasmin is a 132 kDa glycoprotein with six copper atoms per molecule. It is the major copper-carrying protein in blood and exhibits ferroxidase activity essential for iron efflux from cells. The protein is primarily synthesized in the liver and secreted into plasma.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CPT1A Knockout HEK293 Cell Line | EDJ-KQ1089 | Human | 1374 | Details Get a Quote |
| LCP2 Knockout HEK293 Cell Line | EDJ-KQ1309 | Human | 3937 | Details Get a Quote |
| UCP1 Knockout HEK293 Cell Line | EDJ-KQ1453 | Human | 7350 | Details Get a Quote |
| CPT1B Knockout HEK293 Cell Line | EDJ-KQ1876 | Human | 1375 | Details Get a Quote |
| CPT1C Knockout HEK293 Cell Line | EDJ-KQ1877 | Human | 126129 | Details Get a Quote |
| MCPH1 Knockout HEK293 Cell Line | EDJ-KQ1944 | Human | 79648 | Details Get a Quote |
| CPS1 Knockout HEK293 Cell Line | EDJ-KQ1984 | Human | 1373 | Details Get a Quote |
| CPD Knockout HEK293 Cell Line | EDJ-KQ2097 | Human | 1362 | Details Get a Quote |
| UCP2 Knockout HEK293 Cell Line | EDJ-KQ2339 | Human | 7351 | Details Get a Quote |
| DCP1A Knockout HEK293 Cell Line | EDJ-KQ2378 | Human | 55802 | Details Get a Quote |
| CPB2 Knockout HEK293 Cell Line | EDJ-KQ2428 | Human | 1361 | Details Get a Quote |
| ACP3 Knockout HEK293 Cell Line | EDJ-KQ2521 | Human | 55 | Details Get a Quote |
| CPNE9 Knockout HEK293 Cell Line | EDJ-KQ2791 | Human | 151835 | Details Get a Quote |
| CPB1 Knockout HEK293 Cell Line | EDJ-KQ2896 | Human | 1360 | Details Get a Quote |
| CPA4 Knockout HEK293 Cell Line | EDJ-KQ3017 | Human | 51200 | Details Get a Quote |
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