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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CP Gene

protein-coding GIFtS: 68
GCID: GC03M148880

ceruloplasmin (ferroxidase)

Explore 232 diseases affiliated with
CP via

MalaCards

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Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Ceruloplasmin (Ferroxidase)¹ ²
EC 1.16.3.1³ ⁸
CP-2²
Ceruloplasmin¹
Ferroxidase³

External Ids:	HGNC: 2295¹	Entrez Gene: 1356²	Ensembl: ENSG00000047457⁷	OMIM: 117700⁵	UniProtKB: P00450³

Export aliases for CP gene to outside databases

Previous GC identifers: GC03M145840 GC03M149776 GC03M150161 GC03M150212 GC03M150211 GC03M150374 GC03M146261

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CP:

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)

UniProtKB/Swiss-Prot: CERU_HUMAN, P00450

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)

Gene Wiki entry for CP (Ceruloplasmin)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000003.11 NC_018914.1 NT_005612.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CP gene promoter:
TBP AP-1 ATF-2 Pax-2 Pax-2a XBP-1 c-Jun
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CP promoter sequence

Search SABiosciences Chromatin IP Primers for CP

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CP

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q23-q25 Ensembl cytogenetic band: 3q25.1 HGNC cytogenetic band: 3q23-q25

CP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CP gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03M148880: view genomic region (about GC identifiers)

Start:	148,880,197 bp from pter	End:	148,939,842 bp from pter
Size:	59,646 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CERU_HUMAN, P00450 (See protein sequence)

Recommended Name: Ceruloplasmin precursor

Size: 1065 amino acids; 122205 Da

Cofactor: Binds 6 copper ions per monomer

Subcellular location: Secreted. Note=Colocalizes with GCP1 in secretory intracellular compartments (By similarity)

2 PDB 3D structures from and Proteopedia for CP:

1KCW (3D)

2J5W (3D)

Secondary accessions: Q14063 Q2PP18 Q9UKS4

Explore the universe of human proteins at neXtProt for CP: NX_P00450

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P00450

4/10 DME Specific Peptides for CP (P00450) (see all 10)

YKKVVYR

YYSAVDP

HLGILGP

HCHVTDH

CP Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000087.1

ENSEMBL proteins:

ENSP00000418773 ENSP00000420367 ENSP00000264613 ENSP00000420545 ENSP00000426888

Reactome Protein details: P00450
Human Recombinant Protein Products:

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	GenScript Custom Purified and Recombinant Proteins Services for CP
	Novus Biologicals CP Proteins
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for CP

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005615	extracellular space	IDA	--

CP for ontologies About GeneDecksing

CP Antibody Products:

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	Uscn Antibodies for CP
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Assay Products for CP:

	Browse Kits and Assays available from EMD Millipore
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	GenScript Custom Assay Services for CP
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for CP

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CP for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR011707 Cu-oxidase_3

IPR027150 CP

IPR011706 Cu-oxidase_2

IPR008972 Cupredoxin

IPR002355 Cu_oxidase_Cu_BS

Graphical View of Domain Structure for InterPro Entry P00450

ProtoNet protein and cluster: P00450

2 Blocks protein families:

IPB001117 Multicopper oxidase

IPB011706 Multicopper oxidase

UniProtKB/Swiss-Prot: CERU_HUMAN, P00450

Similarity: Belongs to the multicopper oxidase family

Similarity: Contains 3 F5/8 type A domains

Similarity: Contains 6 plastocyanin-like domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: CERU_HUMAN, P00450

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)

Catalytic activity: 4 Fe(2+) + 4 H(+) + O(2) = 4 Fe(3+) + 2 H(2)O

Genatlas biochemistry entry for CP:

ceruloplasmin (130kDa),alpha-2-glycoprotein,with retinal and glial cell specific expression,essential for iron

homeostasis and neuronal survival

Enzyme Number (IUBMB): EC 1.16.3.1¹ ²

miRNA Products:		OriGene 3'-UTR Clone: CP Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CP
		5 QIAGEN miScript miRNA Assays for microRNAs that regulate CP:
		hsa-miR-33a* hsa-miR-520d-5p hsa-miR-15b* hsa-miR-524-5p hsa-miR-3157-5p
		SwitchGear 3'UTR luciferase reporter plasmid: CP 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CP (see all 7) OriGene shRNA RFP: CP OriGene siRNA: CP
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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for CP

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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for CP
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CP

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004322	ferroxidase activity	IEA	--
GO:0005507	copper ion binding	IEA	--
GO:0016491	oxidoreductase activity	--	--
GO:0051087	chaperone binding	IPI	19996109

CP for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for CP: Cp^tm1Hrs Cp^tm1Samd Cp^tm1Yos
     10 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Cp):

behavior/neurological	cardiovascular system	cellular	hematopoietic system	homeostasis/metabolism
immune system	liver/biliary system	nervous system	pigmentation	vision/eye

CP for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

SLC-mediated transmembrane transport

	SLC-mediated transmembrane transport	1.00			Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds	0.38
	Transmembrane transport of small molecules	0.50

Immune response_IL-1 signaling pathway

Immune response_IL-1 signaling pathway

1.00

Immune response IL-1 signaling pathway

0.98

Mechanisms of CFTR activation by S-nitrosoglutathione (normal and CF)

Mechanisms of CFTR activation by S-nitrosoglutathione (normal and CF)

1.00

HIF-1-alpha transcription factor network

HIF-1-alpha transcription factor network

1.00

Zinc transporters

Metal ion SLC transporters

0.68

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for CP

Immune response IL-1 signaling pathway

2 GeneGo (Thomson Reuters) Pathways for CP

	Mechanisms of CFTR activation by S-nitrosoglutathione (normal and CF)
	Immune response IL-1 signaling pathway

1 BioSystems Pathway for CP

HIF-1-alpha transcription factor network

5 Reactome Pathways for CP

	SLC-mediated transmembrane transport
	Transmembrane transport of small molecules
	Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
	Iron uptake and transport
	Metal ion SLC transporters

1 Kegg Pathway (Kegg details for CP):

Porphyrin and chlorophyll metabolism

CP for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CP

STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

5/16 Interacting proteins for CP (P00450³ ENSP00000264613⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 16)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MPO	P05164³, ENSP00000225275⁴	I2D: score=2 STRING: ENSP00000225275
SLC40A1	Q9NP59³, ENSP00000261024⁴	I2D: score=2 STRING: ENSP00000261024
ATP7A	Q04656³, ENSP00000345728⁴	I2D: score=1 STRING: ENSP00000345728
PROC	P04070³, ENSP00000234071⁴	I2D: score=1 STRING: ENSP00000234071
GAST	P01350³, ENSP00000331358⁴	I2D: score=1 STRING: ENSP00000331358

About this table

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006825	copper ion transport	IEA	--
GO:0006879	cellular iron ion homeostasis	TAS	--
GO:0055085	transmembrane transport	TAS	--

CP for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CP for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CP

4 HMDB Compounds for CP About this table

Compound	Synonyms	CAS #	PubMed Ids
Copper	Cu (see all 2)	7440-50-8	--
Iron	Armco iron (see all 19)	7439-89-6	--
Oxygen	Oxygen (see all 5)	7782-44-7	--
Water	Dihydrogen oxide (see all 2)	7732-18-5	--

1 DrugBank Compound for CP About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Drotrecogin alfa	Anticoagulant protein C (see all 4)	60202-16-6	target	--	17016423 17139284

10/108 Novoseek chemical compound relationships for CP gene (see all 108) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
copper	91	1304	2002050 (7), 17697957 (7), 11580917 (7), 16252197 (7) (see all 99)
iron	82.7	745	16806171 (8), 16475160 (8), 10777486 (7), 11019827 (6) (see all 99)
o-dianisidine dihydrochloride	78.8	2	10949969 (1), 15668637 (1)
d penicillamine	72.7	7	8615370 (1), 1370162 (1), 8221705 (1), 8162007 (1) (see all 6)
tetrathiomolybdate	72.6	8	10656425 (2), 12738719 (2), 12545680 (1), 19595438 (1) (see all 5)
superoxide	70.3	170	1649082 (6), 12480800 (4), 12924803 (3), 9612901 (2) (see all 99)
copper histidine	70	4	1616932 (1), 10400645 (1), 15902551 (1)
apotransferrin	66.8	10	9210294 (2), 9247149 (2), 7951057 (1), 1742318 (1) (see all 6)
malondialdehyde	64.9	127	9855215 (5), 15207835 (3), 15372879 (3), 18553110 (3) (see all 59)
stellacyanin	64.3	4	15212551 (1), 17804076 (1), 1793005 (1), 10550695 (1)

Search CenterWatch for drugs/clinical trials and news about CP / CERU

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CP gene:

NM_000096.3

Unigene Cluster for CP:

Ceruloplasmin (ferroxidase)

Hs.558314 [show with all ESTs]

Unigene Representative Sequence: NM_000096

15 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000481169 ENST00000479771 ENST00000460674(uc003eww.4) ENST00000264613(uc011bnr.2 uc003ewx.4 uc003ewy.4 uc003ewz.3)

ENST00000494544 ENST00000474204 ENST00000473296 ENST00000463556 ENST00000490639

ENST00000497902 ENST00000462336 ENST00000489736(uc010hvf.1) ENST00000497797

ENST00000471356 ENST00000455472

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CP
		5 QIAGEN miScript miRNA Assays for microRNAs that regulate CP:
		hsa-miR-33a* hsa-miR-520d-5p hsa-miR-15b* hsa-miR-524-5p hsa-miR-3157-5p
		SwitchGear 3'UTR luciferase reporter plasmid: CP 3' UTR sequence

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Additional cDNA sequence:

AK095290.1 AK291219.1 AK299272.1 AK309279.1 BC039239.1 BC061702.1 BC070304.1 BC094709.1

BC142714.1 BC146663.1 BC146801.1 BX647327.1 M13536.1 M13699.1 NR_046371.1 X04135.1

X04136.1 X04137.1 X04138.1 X69706.1

24/27 DOTS entries (see all 27):

DT.120917730 DT.40253489 DT.451537 DT.95368343 DT.75102599 DT.100645314 DT.100828135 DT.409489

DT.95368345 DT.99938433 DT.100035622 DT.101978061 DT.40106072 DT.40113246 DT.75139281 DT.100037817

DT.95265921 DT.95265924 DT.100037816 DT.100828131 DT.120917721 DT.120917775 DT.121472397 DT.97781982

24/440 AceView cDNA sequences (see all 440):

AU279760 BG563171 AV728343 AL703508 BM726283 BG567090 BU608998 CA391985

AW026809 AW303836 BG533467 BG617230 X04137 BM668931 BM706008 CK430055

CN479129 BM693027 AW193233 BU730157 AI479558 BE392045 CA394509 BG566329

GeneLoc Exon Structure

5/14 Alternative Splicing Database (ASD) splice patterns (SP) for CP (see all 14) About this scheme

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:																											-
SP4:
SP5:

ExUns:	17b	^	18a	·	18b	^	19a	·	19b	^	20a	·	20b	^	21	^	22a	·	22b	·	22c	^	23a	·	23b
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for CP

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CP expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCTCCAACAA

About this image

CP expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

7 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Heart

Myocardium

Mature Cardiac Fibroblasts

Epicardium

Somite

Thoracic Ventrolateral Dermomyotome Lip

Muscle Progenitor Cells

Skeletal Muscle

Bone

Zeugopod Periosteum

Bone

Neural Tube

Diencephalic Floor Plate

Neural Tube

Diencephalic Roof Plate

Neural Tube

Mesencephalic Floor Plate

Neural Tube

Metencephalon

Neural Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CP Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CP

SOURCE GeneReport for Unigene cluster: Hs.558314

UniProtKB/Swiss-Prot: CERU_HUMAN, P00450

Tissue specificity: Expressed by the liver and secreted in plasma

SABiosciences Expression via Pathway-Focused PCR Arrays including CP:

Nephrotoxicity in human mouse rat

Lung Cancer in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CP

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for CP gene from 4/14 species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Cp^{1 , 5}	ceruloplasmin^{1, 5}	84.28(n)¹ 83.68(a)¹		3 (6.10 cM)⁵ 12870¹ NM_007752.2¹ NP_031778.2¹ 19957054⁵
chicken (Gallus gallus)	Aves	CP¹	ceruloplasmin (ferroxidase)	67.01(n) 61.63(a)		771940 XM_001235148.2 XP_001235149.1
lizard (Anolis carolinensis)	Reptilia	-- --	--	68(a) 61(a)	possible ortholog 1 ↔ 1	AAWZ02041447(3315-5505) 3(19046660-19073605)
zebrafish (Danio rerio)	Actinopterygii	cp²	ceruloplasmin	75.7(n)		84702 BC048037.1

ENSEMBL Gene Tree for CP (if available)
TreeFam Gene Tree for CP (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for CP gene

HEPHL1² F5² F8² HEPH²

7 SIMAP similar genes for CP using alignment to 7 protein entries: CERU_HUMAN (see all proteins):

factor V HEPHL1 HEPH F8c F8C F8

CP for paralogs About GeneDecksing

3 Pseudogenes.org Pseudogenes for CP
PGOHUM00000237811 PGOHUM00000250263 PGOHUM00000249743

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs73019015^1,2	C,F,	--	146251042(+)	`GTAAGA/GCAGTC`	1	--	int¹		3		WA CSA	122
rs76493030^1,2	C,	--	146251342(+)	`GGCTTC/TAGTTC`	1	--	int¹		0	--	--	--	--
rs113858031^1,2	F,	--	146252088(+)	`AAATAC/TACTTA`	1	--	int¹		2		CSA	6
rs112017963^1,2	F,	--	146252745(+)	`GAAATG/ATTTTC`	1	--	int¹		2		CSA	6
rs2981470^1,2	H	--	146253060(+)	`ATATTA/CCAATA`	1	--	int¹		3		EA NS	298
rs113804206^1,2	F	--	146253155(+)	`CATACG/TCAGGA`	1	--	int¹		2		CSA	6
rs115730315^1,2	C,F,	--	146253223(+)	`TGAGCG/TGCTGG`	1	--	int¹		1		WA	118
rs73166814^1,2		--	146254198(+)	`CAAAGG/TCTTCT`	1	--	int¹		0	--	--	--	--
rs77466686^1,2	F,	--	146254664(+)	`CACCTC/TGGGTT`	1	--	int¹		1		NA	120
rs190062347^1,2	C,	--	146254712(+)	`CTGACC/TTTACT`	1	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CP (148880197 - 148939842 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CP: --
Human Gene Mutation Database (HGMD): CP

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CP

DNA2.0 Custom Variant and Variant Library Synthesis for CP

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CP for disorders           About GeneDecksing

OMIM gene information: 117700
OMIM disorders: 604290
UniProtKB/Swiss-Prot: CERU_HUMAN, P00450

Defects in CP are the cause of aceruloplasminemia (ACERULOP) [MIM:604290]. It is 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=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

20/232 diseases for CP (see all 232): About MalaCards

aceruloplasminemia pili torti open-angle glaucoma protein-energy malnutrition

hallervorden-spatz syndrome hypoceruloplasminemia, hereditary spinal cord injury congenital nephrotic syndrome finnish type

desmoplastic infantile ganglioglioma obsessive-compulsive disorder primary open angle glaucoma end stage renal failure

drug-induced hepatitis retinol binding protein age related macular degeneration iron overload

adult respiratory distress syndrome hemosiderosis sclerosing cholangitis neuroacanthocytosis

9 diseases from the University of Copenhagen DISEASES database for CP:

Wilson disease Aceruloplasminemia Menkes disease Anemia

Liver cirrhosis Hepatitis Autosomal recessive disease Brain disease

Neurodegenerative disease

10/96 Novoseek disease relationships for CP gene (see all 96) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
wilson disease	90.6	108	16644258 (5), 1883396 (3), 15607310 (3), 18845768 (2) (see all 68)
menkes disease	81.8	7	1638075 (1), 15122050 (1), 9396570 (1), 11040994 (1) (see all 6)
hypercupremia	77.9	1	16815276 (1)
response acute phase	70.6	20	10471781 (2), 8305889 (1), 1725175 (1), 10320628 (1) (see all 16)
pili torti	70.3	2	1638075 (1), 17651950 (1)
iron overload	67.3	36	12200392 (2), 17541408 (2), 11076887 (1), 16806171 (1) (see all 16)
retinal degeneration	55.6	9	9438577 (2), 16639025 (1), 17065470 (1), 12724641 (1) (see all 7)
anemia, hypochromic microcytic	49.4	1	20190976 (1)
hemochromatosis	49	7	11783942 (1), 16797509 (1), 10520410 (1), 15105274 (1) (see all 5)
inflammation	45.1	46	15781823 (3), 16267389 (2), 16629165 (2), 8425718 (2) (see all 35)

Genatlas disease: CP

hypoceruloplasminemia severe with progressive late-onset neurodegenerative syndrome of dysarthria,gait disturbance,non

insulin-dependent diabetes mellitus,sytemic hemosiderosis

GeneTests: CP

Aceruloplasminemia

Genetic Association Database (GAD): CP
Human Genome Epidemiology (HuGE) Navigator: CP (756 documents)

Export disorders for CP gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for CP gene, integrated from 9 sources (see all 1205):
(articles sorted by number of sources associating them with CP)

Utopia: connect your pdf to the dynamic
world of online information

Ceruloplasmin gene variations and substantia nigra hyperechogenicity in Parkinson disease. (PubMed id 15557511)^{1, 2, 4, 9} Hochstrasser H.... Berg D. (2004)
Human ceruloplasmin. Tissue-specific expression of transcripts produced by alternative splicing. (PubMed id 2355023)^{1, 2, 9} Yang F.M.... Bowman B.H. (1990)
Functional relevance of ceruloplasmin mutations in Parkinson's disease. (PubMed id 16150804)^{1, 2, 9} Hochstrasser H.... Berg D. (2005)
Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)^{1, 2} Liu T.... Smith R.D. (2005)
Screening for N-glycosylated proteins by liquid chromatography mass spectrometry. (PubMed id 14760718)^{1, 2} Bunkenborg J.... Wisniewski J.R. (2004)
A proteomic analysis of human bile. (PubMed id 15084671)^{1, 2} Kristiansen T.Z.... Pandey A. (2004)
Phenotype and allele frequencies of some serum protein polymorphisms in populations of the Balkans. (PubMed id 15648851)^{1, 4} Scheil H.G....Huckenbeck W. (2004)
Ceruloplasmin metabolism and function. (PubMed id 12055353)^{1, 2} Hellman N.E. and Gitlin J.D. (2002)
Fine structure of the human ceruloplasmin gene. (PubMed id 7702601)^{1, 2} Daimon M.... Sasaki H. (1995)
Isolation of a human ceruloplasmin cDNA clone that includes the N- terminal leader sequence. (PubMed id 3755405)^{1, 2} Mercer J.F.B. and Grimes A. (1986)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 1356	HGNC: 2295	AceView: CP	Ensembl:ENSG00000047457	euGenes: HUgn1356
ECgene: CP	Kegg: 1356	H-InvDB: CP

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for CP	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CP
Wikipedia	http://en.wikipedia.org/wiki/Ceruloplasmin

Intellectual Property for CP gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for CP gene:
Search GeneIP for patents involving CP

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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Advanced Cell Diagnostics
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ceruloplasmin (ferroxidase)

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Neuroacanthocytosis
WILSON DISEASE
Dementia
HEPATITIS CHOLESTATIC
Prematurity
Malaria
Anemia Hemolytic
Cystic Fibrosis
dysplasia
Hereditary hemochromatosis
Atherosclerosis
Liver diseases
Breast Cancer
Respiratory Distress Syndrome
Chronic prostatitis
Edema
Siderosis
Schizophrenia
Cholestasis
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BILIARY CIRRHOSIS PRIMARY
cell damage
disability
Hemolysis
Neovascularization subretinal
Poisoning
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Ulcer
Colorectal Cancer
Liver Failure
Malnutrition
Inflammation
digestive cancer
iron deficiency
Tuberculosis
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EXTRAPYRAMIDAL SYNDROME
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viral leukemia
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hypercupremia
BEHCET DISEASE
Movement Disorders
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STROKE
Cerebellar Dysfunction
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chronic liver disease
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CP Gene

ceruloplasmin (ferroxidase)

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