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Aliases for CP Gene

Aliases for CP Gene

  • Ceruloplasmin 2 3 3 5
  • Ceruloplasmin (Ferroxidase) 2 3
  • Ferroxidase 2 4
  • EC 4
  • CP-2 3

External Ids for CP Gene

Previous GeneCards Identifiers for CP Gene

  • GC03M145840
  • GC03M149776
  • GC03M150161
  • GC03M150212
  • GC03M150211
  • GC03M150374
  • GC03M148880
  • GC03M146261

Summaries for CP Gene

Entrez Gene Summary for CP Gene

  • 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 for CP Gene

CP (Ceruloplasmin) is a Protein Coding gene. Diseases associated with CP include Aceruloplasminemia and Hemosiderosis. Among its related pathways are Ferroptosis and IL-1 Family Signaling Pathways. 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 for CP Gene

  • 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 (By similarity).

Gene Wiki entry for CP Gene

Additional gene information for CP Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CP Gene

Genomics for CP Gene

GeneHancer (GH) Regulatory Elements for CP Gene

Promoters and enhancers for CP Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J149213 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 669.1 +2.2 2186 13 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 IRF4 YY1 SLC30A9 CP HPS3 HLTF LOC101927942 GC03M149178
GH03J149242 Enhancer 1.1 Ensembl ENCODE 29 -24.0 -24008 6.2 PKNOX1 FOXA2 FEZF1 IRF4 TCF12 FOS RUNX3 RXRA JUNB REST CP HPS3 LOC101927942 ENSG00000244468 CPHL1P
GH03J149297 Enhancer 1.4 Ensembl ENCODE dbSUPER 10.4 -77.9 -77941 4.3 ATF1 PKNOX1 FOXA2 ARID4B NEUROD1 SIN3A FEZF1 ZNF2 BRCA1 YY1 TM4SF18 TM4SF1 TM4SF1-AS1 CP CPHL1P ENSG00000244468
GH03J149196 Enhancer 1 Ensembl ENCODE dbSUPER 12 +24.5 24472 3.1 PKNOX1 NANOG CEBPB CEBPG ZIC2 ETS1 SP1 POLR2A CTBP2 POU5F1 CP HPS3 TMEM183B GC03M149178
GH03J149199 Enhancer 0.7 ENCODE dbSUPER 12 +22.4 22426 0.2 MEIS2 PKNOX1 ZNF766 NFIC PRDM6 ZSCAN5C PRDM10 CP GC03M149178
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CP on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CP gene promoter:
  • TBP
  • AP-1
  • c-Jun
  • ATF-2
  • XBP-1
  • Pax-2
  • Pax-2a

Genomic Locations for CP Gene

Genomic Locations for CP Gene
59,646 bases
Minus strand
59,646 bases
Minus strand

Genomic View for CP Gene

Genes around CP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CP Gene

Proteins for CP Gene

  • Protein details for CP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q14063
    • Q2PP18
    • Q9UKS4

    Protein attributes for CP Gene

    1065 amino acids
    Molecular mass:
    122205 Da
    Name=Cu cation; Xref=ChEBI:CHEBI:23378;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CP Gene

neXtProt entry for CP Gene

Post-translational modifications for CP Gene

  • Glycosylation at posLast=926926, posLast=762762, Asn588, Ser492, Asn397, posLast=358358, and Asn138
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • CERU_HUMAN (85)

Antibody Products

  • Invitrogen Antibodies for CP (AFLGC-CP)

No data available for DME Specific Peptides for CP Gene

Domains & Families for CP Gene

Gene Families for CP Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Candidate cardiovascular disease genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for CP Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the multicopper oxidase family.
  • Belongs to the multicopper oxidase family.
genes like me logo Genes that share domains with CP: view

Function for CP Gene

Molecular function for CP Gene

UniProtKB/Swiss-Prot Function:
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 (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
4 Fe(2+) + 4 H(+) + O(2) = 4 Fe(3+) + 2 H(2)O.
GENATLAS Biochemistry:
ceruloplasmin (130kDa),alpha-2-glycoprotein,with retinal and glial cell specific expression,essential for iron homeostasis and neuronal survival

Enzyme Numbers (IUBMB) for CP Gene

Phenotypes From GWAS Catalog for CP Gene

Gene Ontology (GO) - Molecular Function for CP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004322 ferroxidase activity TAS --
GO:0005507 copper ion binding IEA --
GO:0016491 oxidoreductase activity IEA --
GO:0046872 metal ion binding IEA --
GO:0051087 chaperone binding IPI 19996109
genes like me logo Genes that share ontologies with CP: view
genes like me logo Genes that share phenotypes with CP: view

Human Phenotype Ontology for CP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CP Gene

MGI Knock Outs for CP:
  • Cp Cp<tm1Hrs>
  • Cp Cp<tm1Yos>
  • Cp Cp<tm1Samd>
  • Cp Cp<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

miRNA for CP Gene

miRTarBase miRNAs that target CP

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CP

No data available for Transcription Factor Targets and HOMER Transcription for CP Gene

Localization for CP Gene

Subcellular locations from UniProtKB/Swiss-Prot for CP Gene

Secreted. Note=Colocalizes with GCP1 in secretory intracellular compartments. {ECO:0000250}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CP gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
lysosome 5
mitochondrion 2
cytosol 2
golgi apparatus 2
plasma membrane 1
cytoskeleton 1
nucleus 1

Gene Ontology (GO) - Cellular Components for CP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA,TAS 19996109
GO:0005623 cell IEA --
GO:0005765 lysosomal membrane HDA 17897319
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with CP: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CP Gene

Pathways & Interactions for CP Gene

genes like me logo Genes that share pathways with CP: view

SIGNOR curated interactions for CP Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for CP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006825 copper ion transport IEA --
GO:0006879 cellular iron ion homeostasis IEA,TAS --
GO:0043687 post-translational protein modification TAS --
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with CP: view

Drugs & Compounds for CP Gene

(61) Drugs for CP Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Carrier, binder 202
Iron Approved Pharma Target 1259
Zinc Approved, Investigational Pharma Target 2430
Oxygen Approved, Vet_approved Pharma 0
Cupric oxide Approved Pharma Carrier, binder 0

(55) Additional Compounds for CP Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • FE (II) ion
  • Fe(II)
  • Fe(2+)
  • Ferrous ion
  • Iron ion(2+)
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
genes like me logo Genes that share compounds with CP: view

Transcripts for CP Gene

Unigene Clusters for CP Gene

Ceruloplasmin (ferroxidase):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CP

Alternative Splicing Database (ASD) splice patterns (SP) for CP Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16a · 16b · 16c ^ 17a ·
SP1: -
SP2: -
SP3: -
SP8: -
SP9: -

ExUns: 17b ^ 18a · 18b ^ 19a · 19b ^ 20a · 20b ^ 21 ^ 22a · 22b · 22c ^ 23a · 23b
SP6: -
SP10: - -

Relevant External Links for CP Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CP Gene

This gene is overexpressed in Liver (x32.6).

Protein differential expression in normal tissues from HIPED for CP Gene

This gene is overexpressed in Serum (17.3), Synovial fluid (14.3), Plasma (11.2), and Vitreous humor (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CP Gene

Protein tissue co-expression partners for CP Gene

NURSA nuclear receptor signaling pathways regulating expression of CP Gene:


SOURCE GeneReport for Unigene cluster for CP Gene:


mRNA Expression by UniProt/SwissProt for CP Gene:

Tissue specificity: Expressed by the liver and secreted in plasma.

Evidence on tissue expression from TISSUES for CP Gene

  • Liver(5)
  • Nervous system(4.7)
  • Bone marrow(4.3)
  • Eye(3.7)
  • Blood(3.1)
  • Intestine(2.9)
  • Kidney(2.9)
  • Heart(2.8)
  • Lung(2.7)
  • Spleen(2.5)
  • Adrenal gland(2)
  • Pancreas(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CP Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • ear
  • eye
  • eyelid
  • face
  • head
  • neck
  • heart
  • kidney
  • liver
  • pancreas
  • blood
  • blood vessel
  • bone marrow
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with CP: view

Orthologs for CP Gene

This gene was present in the common ancestor of chordates.

Orthologs for CP Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CP 34
  • 100 (a)
(Bos Taurus)
Mammalia LOC514194 33
  • 88.18 (n)
CP 34
  • 84 (a)
(Canis familiaris)
Mammalia CP 34 33
  • 87.33 (n)
(Mus musculus)
Mammalia Cp 16 34 33
  • 84.18 (n)
(Rattus norvegicus)
Mammalia Cp 33
  • 83.78 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 72 (a)
-- 34
  • 67 (a)
-- 34
  • 61 (a)
(Monodelphis domestica)
Mammalia CP 34
  • 72 (a)
(Gallus gallus)
Aves CP 34 33
  • 67.02 (n)
(Anolis carolinensis)
Reptilia -- 34
  • 70 (a)
-- 34
  • 61 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cp 33
  • 63.34 (n)
(Danio rerio)
Actinopterygii cp 34 33 33
  • 59.58 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8345 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 40 (a)
Species where no ortholog for CP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CP Gene

Gene Tree for CP (if available)
Gene Tree for CP (if available)
Evolutionary constrained regions (ECRs) for CP: view image

Paralogs for CP Gene

Paralogs for CP Gene

(7) SIMAP similar genes for CP Gene using alignment to 7 proteins:

  • A5PL27_HUMAN
  • D6RE86_HUMAN
  • H7C5N5_HUMAN
  • H7C5R1_HUMAN
  • Q6NSB2_HUMAN Pseudogenes for CP Gene

genes like me logo Genes that share paralogs with CP: view

Variants for CP Gene

Sequence variations from dbSNP and Humsavar for CP Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1053669 benign, Hermansky-Pudlak syndrome, Deficiency of ferroxidase 149,172,945(-) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant
rs1053709 benign, conflicting-interpretations-of-pathogenicity, not specified, Deficiency of ferroxidase 149,186,647(-) T/G coding_sequence_variant, intron_variant, non_coding_transcript_variant, synonymous_variant
rs1064797073 likely-pathogenic, Deficiency of ferroxidase 149,198,401(-) C/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs11537809 likely-benign, Deficiency of ferroxidase, Hermansky-Pudlak syndrome 149,172,557(-) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CP Gene

Variant ID Type Subtype PubMed ID
esv3305220 CNV mobile element insertion 20981092
esv3309338 CNV mobile element insertion 20981092
esv3326828 CNV insertion 20981092
esv3383842 CNV insertion 20981092
esv3386128 CNV insertion 20981092
nsv4055 CNV deletion 18451855
nsv528012 CNV loss 19592680
nsv998572 CNV loss 25217958

Variation tolerance for CP Gene

Residual Variation Intolerance Score: 92.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.69; 66.03% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CP Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CP Gene

Disorders for CP Gene

MalaCards: The human disease database

(45) MalaCards diseases for CP Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
  • hypoceruloplasminemia, hereditary
  • haemosiderosis
wilson disease
  • wnd; wd
nutmeg liver
  • chronic passive congestion of liver
menkes disease
  • mk; mnk
- elite association - COSMIC cancer census association via MalaCards
Search CP in MalaCards View complete list of genes associated with diseases


  • Aceruloplasminemia (ACERULOP) [MIM:604290]: An autosomal recessive disorder of iron metabolism characterized by iron accumulation in the brain as well as visceral organs. Clinical features consist of the triad of retinal degeneration, diabetes mellitus and neurological disturbances. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Ceruloplasmin levels are decreased in Wilson disease, in which copper cannot be incorporated into ceruloplasmin in liver because of defects in the copper-transporting ATPase 2.

Genatlas disease for CP Gene

hypoceruloplasminemia severe with progressive late-onset neurodegenerative syndrome of dysarthria,gait disturbance,non insulin-dependent diabetes mellitus,sytemic hemosiderosis

Additional Disease Information for CP

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CP: view

Publications for CP Gene

  1. Ceruloplasmin gene variations and substantia nigra hyperechogenicity in Parkinson disease. (PMID: 15557511) Hochstrasser H … Berg D (Neurology 2004) 3 4 22 44 58
  2. Functional relevance of ceruloplasmin mutations in Parkinson's disease. (PMID: 16150804) Hochstrasser H … Berg D (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2005) 3 4 22 58
  3. Human ceruloplasmin. Tissue-specific expression of transcripts produced by alternative splicing. (PMID: 2355023) Yang FM … Bowman BH (The Journal of biological chemistry 1990) 3 4 22 58
  4. Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection. (PMID: 20587610) Ucisik-Akkaya E … Dorak MT (Molecular human reproduction 2010) 3 44 58
  5. Identification of human plasma proteins as major clients for the extracellular chaperone clusterin. (PMID: 19996109) Wyatt AR … Wilson MR (The Journal of biological chemistry 2010) 3 22 58

Products for CP Gene

Sources for CP Gene

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