1. Gene Aliases

CP, Ceruloplasmin, AB073614, Ceruloplasmin (Ferroxidase), Ferroxidase, EC 1.16.3.1, CP-2

[https://www.genecards.org/cgi-bin/carddisp.pl?gene=CP&keywords=cp]

2. Association with Toxicity and/or Disease at a Transcriptional Level

3. Summary of Protein Family and Structure

4. Proteins Known to Interact with Gene Product

Interactions with experimental support

Interactions with text mining support

5. Links to Gene Databases

6. GO Terms, MSigDB Signatures, Pathways Containing Gene with Descriptions of Gene Sets

Pathways:

GO terms:

copper ion transport [The directed movement of copper (Cu) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. GO:0006825]

female pregnancy [The set of physiological processes that allow an embryo or foetus to develop within the body of a female animal. It covers the time from fertilization of a female ovum by a male spermatozoon until birth. GO:0007565]

intracellular iron ion homeostasis [A homeostatic process involved in the maintenance of a steady state level of iron ions within a cell. GO:0006879]

iron ion transport [The directed movement of iron (Fe) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. GO:0006826]

lactation [The regulated release of milk from the mammary glands and the period of time that a mother lactates to feed her young. GO:0007595]

liver development [The process whose specific outcome is the progression of the liver over time, from its formation to the mature structure. The liver is an exocrine gland which secretes bile and functions in metabolism of protein and carbohydrate and fat, synthesizes substances involved in the clotting of the blood, synthesizes vitamin A, detoxifies poisonous substances, stores glycogen, and breaks down worn-out erythrocytes. GO:0001889]

lung development [The process whose specific outcome is the progression of the lung over time, from its formation to the mature structure. In all air-breathing vertebrates the lungs are developed from the ventral wall of the oesophagus as a pouch which divides into two sacs. In amphibians and many reptiles the lungs retain very nearly this primitive sac-like character, but in the higher forms the connection with the esophagus becomes elongated into the windpipe and the inner walls of the sacs become more and more divided, until, in the mammals, the air spaces become minutely divided into tubes ending in small air cells, in the walls of which the blood circulates in a fine network of capillaries. In mammals the lungs are more or less divided into lobes, and each lung occupies a separate cavity in the thorax. GO:0030324]

mammary gland involution [The tissue remodeling that removes differentiated mammary epithelia during weaning. GO:0060056]

plasma membrane copper ion transport [The directed movement of copper ions across the plasma membrane. GO:0015679]

response to copper ion [Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a copper ion stimulus. GO:0046688]

response to nutrient [Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nutrient stimulus. GO:0007584]

MSigDB Signatures:

WP_NEPHROGENESIS: Nephrogenesis [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/WP_NEPHROGENESIS.html]

KEGG_RENAL_CELL_CARCINOMA: Renal cell carcinoma [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/KEGG_RENAL_CELL_CARCINOMA.html]

WP_NEPHROTIC_SYNDROME: Nephrotic syndrome [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/WP_NEPHROTIC_SYNDROME.html]

WP_WNT_SIGNALING_IN_KIDNEY_DISEASE: Wnt signaling in kidney disease [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/WP_WNT_SIGNALING_IN_KIDNEY_DISEASE.html]

WP_MARKERS_OF_KIDNEY_CELL_LINEAGE: Markers of kidney cell lineage [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/WP_MARKERS_OF_KIDNEY_CELL_LINEAGE.html]

WP_GENES_CONTROLLING_NEPHROGENESIS: Genes controlling nephrogenesis [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/WP_GENES_CONTROLLING_NEPHROGENESIS.html]

WP_PROXIMAL_TUBULE_TRANSPORT: Proximal tubule transport [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/WP_PROXIMAL_TUBULE_TRANSPORT.html]

REACTOME_VASOPRESSIN_REGULATES_RENAL_WATER_HOMEOSTASIS_VIA_AQUAPORINS: Vasopressin regulates renal water homeostasis via Aquaporins [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/REACTOME_VASOPRESSIN_REGULATES_RENAL_WATER_HOMEOSTASIS_VIA_AQUAPORINS.html]

KEGG_ALDOSTERONE_REGULATED_SODIUM_REABSORPTION: Aldosterone-regulated sodium reabsorption [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/KEGG_ALDOSTERONE_REGULATED_SODIUM_REABSORPTION.html]

REACTOME_NEPHRIN_FAMILY_INTERACTIONS: Nephrin family interactions [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/REACTOME_NEPHRIN_FAMILY_INTERACTIONS.html]

WP_RENIN_ANGIOTENSIN_ALDOSTERONE_SYSTEM_RAAS: Renin angiotensin aldosterone system RAAS [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/WP_RENIN_ANGIOTENSIN_ALDOSTERONE_SYSTEM_RAAS.html]

WP_CLEAR_CELL_RENAL_CELL_CARCINOMA_PATHWAYS: Clear cell renal cell carcinoma pathways [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/WP_CLEAR_CELL_RENAL_CELL_CARCINOMA_PATHWAYS.html]

WP_UREA_CYCLE_AND_RELATED_DISEASES: Urea cycle and related diseases [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/WP_UREA_CYCLE_AND_RELATED_DISEASES.html]

KEGG_RENIN_ANGIOTENSIN_SYSTEM: Renin-angiotensin system [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/KEGG_RENIN_ANGIOTENSIN_SYSTEM.html]

WP_PRIMARY_FOCAL_SEGMENTAL_GLOMERULOSCLEROSIS_FSGS: Primary focal segmental glomerulosclerosis FSGS [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/WP_PRIMARY_FOCAL_SEGMENTAL_GLOMERULOSCLEROSIS_FSGS.html]

WP_TYPE_2_PAPILLARY_RENAL_CELL_CARCINOMA: Type 2 papillary renal cell carcinoma [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/WP_TYPE_2_PAPILLARY_RENAL_CELL_CARCINOMA.html]

REACTOME_DISEASES_OF_IMMUNE_SYSTEM: Diseases of Immune System [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/REACTOME_DISEASES_OF_IMMUNE_SYSTEM.html]

WP_REGUCALCIN_IN_PROXIMAL_TUBULE_EPITHELIAL_KIDNEY_CELLS: Regucalcin in proximal tubule epithelial kidney cells [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/WP_REGUCALCIN_IN_PROXIMAL_TUBULE_EPITHELIAL_KIDNEY_CELLS.html]

WP_DEVELOPMENT_OF_URETERIC_COLLECTION_SYSTEM: Development of ureteric collection system [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/WP_DEVELOPMENT_OF_URETERIC_COLLECTION_SYSTEM.html]

KEGG_ALLOGRAFT_REJECTION: Allograft rejection [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/KEGG_ALLOGRAFT_REJECTION.html]

WP_ALLOGRAFT_REJECTION: Allograft rejection [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/WP_ALLOGRAFT_REJECTION.html]

KEGG_PROXIMAL_TUBULE_BICARBONATE_RECLAMATION: Proximal tubule bicarbonate reclamation [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/KEGG_PROXIMAL_TUBULE_BICARBONATE_RECLAMATION.html]

WP_MET_IN_TYPE_1_PAPILLARY_RENAL_CELL_CARCINOMA: MET in type 1 papillary renal cell carcinoma [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/WP_MET_IN_TYPE_1_PAPILLARY_RENAL_CELL_CARCINOMA.html]

KEGG_MEDICUS_REFERENCE_ANGIOTENSIN_ALDOSTERONE_SIGNALING_PATHWAY: Pathway Definition from KEGG: AngII -> AGTR1 -> GNAQ -> PLCB -> IP3 -> Ca2+ -> CALM -> CAMK -> CREB => CYP11B2 -> Aldosterone [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/KEGG_MEDICUS_REFERENCE_ANGIOTENSIN_ALDOSTERONE_SIGNALING_PATHWAY.html]

WP_ANGIOTENSIN_II_RECEPTOR_TYPE_1_PATHWAY: Angiotensin II receptor type 1 pathway [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/WP_ANGIOTENSIN_II_RECEPTOR_TYPE_1_PATHWAY.html]

REACTOME_PARASITE_INFECTION: Parasite infection [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/REACTOME_PARASITE_INFECTION.html]

KEGG_SYSTEMIC_LUPUS_ERYTHEMATOSUS: Systemic lupus erythematosus [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/KEGG_SYSTEMIC_LUPUS_ERYTHEMATOSUS.html]

REACTOME_TRANSPORT_OF_RCBL_WITHIN_THE_BODY: Transport of RCbl within the body [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/REACTOME_TRANSPORT_OF_RCBL_WITHIN_THE_BODY.html]

REACTOME_PROTEIN_LOCALIZATION: Protein localization [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/REACTOME_PROTEIN_LOCALIZATION.html]

WP_HEREDITARY_LEIOMYOMATOSIS_AND_RENAL_CELL_CARCINOMA_PATHWAY: Hereditary leiomyomatosis and renal cell carcinoma pathway [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/WP_HEREDITARY_LEIOMYOMATOSIS_AND_RENAL_CELL_CARCINOMA_PATHWAY.html]

WP_COMPLEMENT_SYSTEM: Complement system [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/WP_COMPLEMENT_SYSTEM.html]

KEGG_MEDICUS_VARIANT_MUTATION_ACTIVATED_KCNJ5_TO_ANGIOTENSIN_ALDOSTERONE_SIGNALING_PATHWAY: Pathway Definition from KEGG: KCNJ5* -> Na+ -> (CACNA1D,CACNA1H) -> Ca2+ -> CALM -> CAMK -> CREB => CYP11B2 -> Aldosterone [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/KEGG_MEDICUS_VARIANT_MUTATION_ACTIVATED_KCNJ5_TO_ANGIOTENSIN_ALDOSTERONE_SIGNALING_PATHWAY.html]

REACTOME_AQUAPORIN_MEDIATED_TRANSPORT: Aquaporin-mediated transport [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/REACTOME_AQUAPORIN_MEDIATED_TRANSPORT.html]

REACTOME_CARGO_TRAFFICKING_TO_THE_PERICILIARY_MEMBRANE: Cargo trafficking to the periciliary membrane [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/REACTOME_CARGO_TRAFFICKING_TO_THE_PERICILIARY_MEMBRANE.html]

WP_BLADDER_CANCER: Bladder cancer [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/WP_BLADDER_CANCER.html]

KEGG_BLADDER_CANCER: Bladder cancer [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/KEGG_BLADDER_CANCER.html]

REACTOME_DISEASES_OF_METABOLISM: Diseases of metabolism [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/REACTOME_DISEASES_OF_METABOLISM.html]

REACTOME_SODIUM_COUPLED_PHOSPHATE_COTRANSPORTERS: Sodium-coupled phosphate cotransporters [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/REACTOME_SODIUM_COUPLED_PHOSPHATE_COTRANSPORTERS.html]

WP_UREA_CYCLE_AND_ASSOCIATED_PATHWAYS: Urea cycle and associated pathways [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/WP_UREA_CYCLE_AND_ASSOCIATED_PATHWAYS.html]

KEGG_RIBOSOME: Ribosome [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/KEGG_RIBOSOME.html]

KEGG_MEDICUS_VARIANT_MUTATION_INACTIVATED_ATP2B3_TO_ANGIOTENSIN_ALDOSTERONE_SIGNALING_PATHWAY: Pathway Definition from KEGG: ATP2B3* -> Ca2+ -> CALM -> CAMK -> CREB => CYP11B2 -> Aldosterone [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/KEGG_MEDICUS_VARIANT_MUTATION_INACTIVATED_ATP2B3_TO_ANGIOTENSIN_ALDOSTERONE_SIGNALING_PATHWAY.html]

KEGG_PROSTATE_CANCER: Prostate cancer [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/KEGG_PROSTATE_CANCER.html]

REACTOME_EICOSANOID_LIGAND_BINDING_RECEPTORS: Eicosanoid ligand-binding receptors [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/REACTOME_EICOSANOID_LIGAND_BINDING_RECEPTORS.html]

WP_CREATINE_PATHWAY: Creatine pathway [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/WP_CREATINE_PATHWAY.html]

WP_VASOPRESSIN_REGULATED_WATER_REABSORPTION: Vasopressin regulated water reabsorption [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/WP_VASOPRESSIN_REGULATED_WATER_REABSORPTION.html]

REACTOME_PHYSIOLOGICAL_FACTORS: Physiological factors [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/REACTOME_PHYSIOLOGICAL_FACTORS.html]

REACTOME_UREA_CYCLE: Urea cycle [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/REACTOME_UREA_CYCLE.html]

REACTOME_CREATINE_METABOLISM: Creatine metabolism [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/REACTOME_CREATINE_METABOLISM.html]

KEGG_MEDICUS_VARIANT_MUTATION_ACTIVATED_CACNA1D_H_TO_ANGIOTENSIN_ALDOSTERONE_SIGNALING_PATHWAY: Pathway Definition from KEGG: (CACNA1D*,CACNA1H*) -> Ca2+ -> CALM -> CAMK -> CREB => CYP11B2 -> Aldosterone [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/KEGG_MEDICUS_VARIANT_MUTATION_ACTIVATED_CACNA1D_H_TO_ANGIOTENSIN_ALDOSTERONE_SIGNALING_PATHWAY.html]

REACTOME_CARGO_CONCENTRATION_IN_THE_ER: Cargo concentration in the ER [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/REACTOME_CARGO_CONCENTRATION_IN_THE_ER.html]

REACTOME_VITAMINS: Vitamins [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/REACTOME_VITAMINS.html]

WP_SPINAL_CORD_INJURY: Spinal cord injury [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/WP_SPINAL_CORD_INJURY.html]

REACTOME_ORGANIC_CATION_TRANSPORT: Organic cation transport [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/REACTOME_ORGANIC_CATION_TRANSPORT.html]

REACTOME_LIGAND_RECEPTOR_INTERACTIONS: Ligand-receptor interactions [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/REACTOME_LIGAND_RECEPTOR_INTERACTIONS.html]

WP_MINERALOCORTICOID_BIOSYNTHESIS: Mineralocorticoid biosynthesis [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/WP_MINERALOCORTICOID_BIOSYNTHESIS.html]

REACTOME_MINERALOCORTICOID_BIOSYNTHESIS: Mineralocorticoid biosynthesis [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/REACTOME_MINERALOCORTICOID_BIOSYNTHESIS.html]

BIOCARTA_ERYTH_PATHWAY: Erythrocyte Differentiation Pathway [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/BIOCARTA_ERYTH_PATHWAY.html]

KEGG_MEDICUS_VARIANT_CYP11B1_CYP11B2_FUSION_TO_ACTH_CORTISOL_SIGNALING_PATHWAY: Pathway Definition from KEGG: ACTH -> (MC2R+MRAP) -> GNAS -> ADCY -> cAMP -> PKA -> (NR5A1,NR4A1,SP1,PBX1,CREB) => CYP11B2* -> Aldosterone [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/KEGG_MEDICUS_VARIANT_CYP11B1_CYP11B2_FUSION_TO_ACTH_CORTISOL_SIGNALING_PATHWAY.html]

REACTOME_GLYCOSAMINOGLYCAN_METABOLISM: Glycosaminoglycan metabolism [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/REACTOME_GLYCOSAMINOGLYCAN_METABOLISM.html]

WP_PRE_IMPLANTATION_EMBRYO: Pre implantation embryo [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/WP_PRE_IMPLANTATION_EMBRYO.html]

KEGG_MEDICUS_VARIANT_MUTATION_INACTIVATED_ATP1A1_TO_ANGIOTENSIN_ALDOSTERONE_SIGNALING_PATHWAY: Pathway Definition from KEGG: ATP1A1* -> Na+ -> (CACNA1D,CACNA1H) -> Ca2+ -> CALM -> CAMK -> CREB => CYP11B2 -> Aldosterone [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/KEGG_MEDICUS_VARIANT_MUTATION_INACTIVATED_ATP1A1_TO_ANGIOTENSIN_ALDOSTERONE_SIGNALING_PATHWAY.html]

REACTOME_HCMV_EARLY_EVENTS: HCMV Early Events [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/REACTOME_HCMV_EARLY_EVENTS.html]

REACTOME_RA_BIOSYNTHESIS_PATHWAY: RA biosynthesis pathway [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/REACTOME_RA_BIOSYNTHESIS_PATHWAY.html]

WP_GLYCOSAMINOGLYCAN_DEGRADATION: Glycosaminoglycan degradation [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/WP_GLYCOSAMINOGLYCAN_DEGRADATION.html]

KEGG_GLYCOSAMINOGLYCAN_DEGRADATION: Glycosaminoglycan degradation [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/KEGG_GLYCOSAMINOGLYCAN_DEGRADATION.html]

REACTOME_CALCINEURIN_ACTIVATES_NFAT: Calcineurin activates NFAT [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/REACTOME_CALCINEURIN_ACTIVATES_NFAT.html]

WP_GPCRS_OTHER: GPCRs other [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/WP_GPCRS_OTHER.html]

REACTOME_ORGANIC_ANION_TRANSPORTERS: Organic anion transporters [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/REACTOME_ORGANIC_ANION_TRANSPORTERS.html]

REACTOME_ER_QUALITY_CONTROL_COMPARTMENT_ERQC: ER Quality Control Compartment (ERQC) [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/REACTOME_ER_QUALITY_CONTROL_COMPARTMENT_ERQC.html]

REACTOME_ADAPTIVE_IMMUNE_SYSTEM: Adaptive Immune System [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/REACTOME_ADAPTIVE_IMMUNE_SYSTEM.html]

WP_METAPATHWAY_BIOTRANSFORMATION_PHASE_I_AND_II: Metapathway biotransformation Phase I and II [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/WP_METAPATHWAY_BIOTRANSFORMATION_PHASE_I_AND_II.html]

KEGG_DILATED_CARDIOMYOPATHY: Dilated cardiomyopathy [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/KEGG_DILATED_CARDIOMYOPATHY.html]

REACTOME_COLLAGEN_FORMATION: Collagen formation [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/REACTOME_COLLAGEN_FORMATION.html]

KEGG_MEDICUS_REFERENCE_REGULATION_OF_FIBRINOLYTIC_SYSTEM_PAI: Pathway Definition from KEGG: PAI -| (PLAU,PLAT) [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/KEGG_MEDICUS_REFERENCE_REGULATION_OF_FIBRINOLYTIC_SYSTEM_PAI.html]

REACTOME_NEURONAL_SYSTEM: Neuronal System [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/REACTOME_NEURONAL_SYSTEM.html]

WP_TYPE_II_DIABETES_MELLITUS: Type II diabetes mellitus [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/WP_TYPE_II_DIABETES_MELLITUS.html]

KEGG_TYPE_II_DIABETES_MELLITUS: Type II diabetes mellitus [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/KEGG_TYPE_II_DIABETES_MELLITUS.html]

KEGG_VASOPRESSIN_REGULATED_WATER_REABSORPTION: Vasopressin-regulated water reabsorption [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/KEGG_VASOPRESSIN_REGULATED_WATER_REABSORPTION.html]

REACTOME_LDL_CLEARANCE: LDL clearance [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/REACTOME_LDL_CLEARANCE.html]

REACTOME_ENDOSOMAL_VACUOLAR_PATHWAY: Endosomal/Vacuolar pathway [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/REACTOME_ENDOSOMAL_VACUOLAR_PATHWAY.html]

REACTOME_DISEASES_ASSOCIATED_WITH_GLYCOSAMINOGLYCAN_METABOLISM: Diseases associated with glycosaminoglycan metabolism [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/REACTOME_DISEASES_ASSOCIATED_WITH_GLYCOSAMINOGLYCAN_METABOLISM.html]

REACTOME_ATTACHMENT_OF_GPI_ANCHOR_TO_UPAR: Attachment of GPI anchor to uPAR [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/REACTOME_ATTACHMENT_OF_GPI_ANCHOR_TO_UPAR.html]

KEGG_LYSOSOME: Lysosome [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/KEGG_LYSOSOME.html]

REACTOME_MEMBRANE_TRAFFICKING: Membrane Trafficking [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/REACTOME_MEMBRANE_TRAFFICKING.html]

KEGG_MEDICUS_REFERENCE_PTH_PTH1R_PKA_SIGNALING_PATHWAY: Pathway Definition from KEGG: PTH -> PTH1R -> GNAS -> ADCY -> cAMP -> PKA [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/KEGG_MEDICUS_REFERENCE_PTH_PTH1R_PKA_SIGNALING_PATHWAY.html]

REACTOME_ION_HOMEOSTASIS: Ion homeostasis [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/REACTOME_ION_HOMEOSTASIS.html]

WP_UROTENSIN_II_MEDIATED_SIGNALING_PATHWAY: Urotensin II mediated signaling pathway [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/WP_UROTENSIN_II_MEDIATED_SIGNALING_PATHWAY.html]

KEGG_TYPE_I_DIABETES_MELLITUS: Type I diabetes mellitus [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/KEGG_TYPE_I_DIABETES_MELLITUS.html]

REACTOME_SODIUM_CALCIUM_EXCHANGERS: Sodium/Calcium exchangers [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/REACTOME_SODIUM_CALCIUM_EXCHANGERS.html]

REACTOME_PURINE_SALVAGE: Purine salvage [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/REACTOME_PURINE_SALVAGE.html]

REACTOME_LEISHMANIA_INFECTION: Leishmania infection [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/REACTOME_LEISHMANIA_INFECTION.html]

KEGG_LEISHMANIA_INFECTION: Leishmania infection [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/KEGG_LEISHMANIA_INFECTION.html]

REACTOME_HEMOSTASIS: Hemostasis [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/REACTOME_HEMOSTASIS.html]

KEGG_MEDICUS_REFERENCE_RENIN_ANGIOTENSIN_SIGNALING_PATHWAY: Pathway Definition from KEGG: AGT -- REN -> AngI -- ACE -> AngII -> AGTR [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/KEGG_MEDICUS_REFERENCE_RENIN_ANGIOTENSIN_SIGNALING_PATHWAY.html]

WP_CHOLESTASIS: Cholestasis [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/WP_CHOLESTASIS.html]

WP_ACE_INHIBITOR_PATHWAY: ACE inhibitor pathway [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/WP_ACE_INHIBITOR_PATHWAY.html]

REACTOME_SIGNALING_BY_VEGF: Signaling by VEGF [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/REACTOME_SIGNALING_BY_VEGF.html]

BIOCARTA_RANKL_PATHWAY: Bone Remodelling [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/BIOCARTA_RANKL_PATHWAY.html]

KEGG_MEDICUS_REFERENCE_CASR_PTH_SIGNALING_PATHWAY: Pathway Definition from KEGG: Ca2+ -> CASR -> GNAQ -> PLCB -> IP3 -> Ca2+ -| PTH [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/KEGG_MEDICUS_REFERENCE_CASR_PTH_SIGNALING_PATHWAY.html]

KEGG_VIBRIO_CHOLERAE_INFECTION: Vibrio cholerae infection [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/KEGG_VIBRIO_CHOLERAE_INFECTION.html]

The list of signatures has been truncated to include only signatures with the highest tissue association scores.

7. Gene Descriptions

NCBI Gene Summary: The protein encoded by this gene is a metalloprotein that binds most of the copper in plasma and is involved in the peroxidation of Fe(II)transferrin to Fe(III) transferrin. Mutations in this gene cause aceruloplasminemia, which results in iron accumulation and tissue damage, and is associated with diabetes and neurologic abnormalities. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq, Feb 2012]

GeneCards Summary: CP (Ceruloplasmin) is a Protein Coding gene. Diseases associated with CP include Aceruloplasminemia and Hermansky-Pudlak Syndrome 3. Among its related pathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs). Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and copper ion binding. An important paralog of this gene is HEPHL1.

UniProtKB/Swiss-Prot Summary: Ceruloplasmin is a blue, copper-binding (6-7 atoms per molecule) glycoprotein. It has ferroxidase activity oxidizing Fe(2+) to Fe(3+) without releasing radical oxygen species. It is involved in iron transport across the cell membrane. Provides Cu(2+) ions for the ascorbate-mediated deaminase degradation of the heparan sulfate chains of GPC1. May also play a role in fetal lung development or pulmonary antioxidant defense.

8. Cellular Location of Gene Product

Distinct positivity in plasma and extracellular matrix. Predicted location: Secreted, Intracellular (different isoforms) [https://www.proteinatlas.org/ENSG00000047457/subcellular]

9. Mechanistic Information

Summary

Ceruloplasmin (Cp) gene dysregulation in kidney diseases and toxicities can be explained through its role in iron and copper homeostasis and its response to cellular stress [CS: 9]. When the kidney experiences toxic events, or the development of conditions like diabetic kidney disease (DKD), there is an increased production of harmful substances, like radical oxygen species, and disruptions in metal ion balance [CS: 9]. Cp, encoded by the CP gene, plays a crucial role in mitigating these effects [CS: 9].

In the context of DKD, where ferroptosis is involved, ceruloplasmin's function as a ferroxidase becomes crucial [CS: 8]. By oxidizing Fe(2+) to Fe(3+), Cp limits iron's capacity to generate harmful radicals, protecting the kidney cells from ferroptosis [CS: 9]. Similarly, in conditions where there's increased expression of Cp in response to inflammation or tissue damage, as seen in chronic exposure to toxins like depleted uranium, Cp aids in maintaining the balance of copper and iron [CS: 7]. This mechanism helps to counteract the toxic effects of such exposure, which often include oxidative stress and iron accumulation [CS: 8].

10. Upstream Regulators

11. Tissues/Cell Type Where Genes are Overexpressed

Tissue type enchanced: liver (tissue enriched) [https://www.proteinatlas.org/ENSG00000047457/tissue]

Cell type enchanced: club cells, glandular and luminal cells, hepatocytes, kupffer cells, muller glia cells (cell type enhanced) [https://www.proteinatlas.org/ENSG00000047457/single+cell+type]

12. Role of Gene in Other Tissues

13. Chemicals Known to Elicit Transcriptional Response of Biomarker in Tissue of Interest

Compounds that increase expression of the gene:

Compounds that decrease expression of the gene:

14. DisGeNet Biomarker Associations to Disease in Organ of Interest