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Aliases for ATP7B Gene

Aliases for ATP7B Gene

  • ATPase, Cu++ Transporting, Beta Polypeptide 2 3
  • Copper Pump 2 2 3 4
  • WND 3 4 6
  • Wilson Disease-Associated Protein 3 4
  • Copper-Transporting ATPase 2 2 3
  • PWD 3 4
  • WC1 3 4
  • ATPase, Cu++ Transporting, Beta Polypeptide (Wilson Disease) 2
  • ATPase, Cu(2+)- Transporting, Beta Polypeptide 3
  • Wilson Disease 2
  • EC 4
  • EC 63
  • EC 3.6.3 63
  • WD 3

External Ids for ATP7B Gene

Previous HGNC Symbols for ATP7B Gene

  • WND

Previous GeneCards Identifiers for ATP7B Gene

  • GC13M050506
  • GC13M046494
  • GC13M051443
  • GC13M050304
  • GC13M051404
  • GC13M052506
  • GC13M033295

Summaries for ATP7B Gene

Entrez Gene Summary for ATP7B Gene

  • This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein functions as a monomer, exporting copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease (WD). [provided by RefSeq, Jul 2008]

GeneCards Summary for ATP7B Gene

ATP7B (ATPase, Cu++ Transporting, Beta Polypeptide) is a Protein Coding gene. Diseases associated with ATP7B include wilson disease and menkes disease. Among its related pathways are Ion channel transport and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include copper ion binding and copper-exporting ATPase activity. An important paralog of this gene is ATP7A.

UniProtKB/Swiss-Prot for ATP7B Gene

  • Involved in the export of copper out of the cells, such as the efflux of hepatic copper into the bile

Gene Wiki entry for ATP7B Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP7B Gene

Genomics for ATP7B Gene

Regulatory Elements for ATP7B Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ATP7B Gene

51,905,617 bp from pter
52,012,109 bp from pter
106,493 bases
Minus strand

Genomic View for ATP7B Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ATP7B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP7B Gene

Proteins for ATP7B Gene

  • Protein details for ATP7B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Copper-transporting ATPase 2
    Protein Accession:
    Secondary Accessions:
    • Q16318
    • Q16319
    • Q4U3V3
    • Q59FJ9
    • Q5T7X7

    Protein attributes for ATP7B Gene

    1465 amino acids
    Molecular mass:
    157263 Da
    Quaternary structure:
    • Monomer. Interacts with COMMD1/MURR1. Interacts with DCTN4, in a copper-dependent manner. Interacts with ATOX1.
    • Sequence=AAA16173.1; Type=Frameshift; Positions=830; Evidence={ECO:0000305}; Sequence=AAA79211.1; Type=Frameshift; Positions=456; Evidence={ECO:0000305}; Sequence=AAA79212.1; Type=Frameshift; Positions=456; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ATP7B Gene

    Alternative splice isoforms for ATP7B Gene


neXtProt entry for ATP7B Gene

Proteomics data for ATP7B Gene at MOPED

Post-translational modifications for ATP7B Gene

  • Isoform 1 may be proteolytically cleaved at the N-terminus to produce the WND/140 kDa form
  • Ubiquitination at Lys489, Lys607, and Lys1028
  • Modification sites at PhosphoSitePlus

Other Protein References for ATP7B Gene

Antibody Products

Domains for ATP7B Gene

Gene Families for ATP7B Gene


Graphical View of Domain Structure for InterPro Entry



  • Each HMA domain can bind a copper ion, they are tightly packed and closely interact with each other. Wild-type ATP7B can usually be loaded with an average 5.5 copper atoms per molecule.
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IB subfamily.
  • Each HMA domain can bind a copper ion, they are tightly packed and closely interact with each other. Wild-type ATP7B can usually be loaded with an average 5.5 copper atoms per molecule.
  • Contains 6 HMA domains.
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IB subfamily.
genes like me logo Genes that share domains with ATP7B: view

Function for ATP7B Gene

Molecular function for ATP7B Gene

GENATLAS Biochemistry:
copper binding P-type ATPase 7B,1-60kDa,expressed in liver,kidney,brain,placenta,with alternatively spliced isoforms,tissue specific for brain and liver,and a 140kDa mitochondrial form,formed after proleolytic cleavage at the N terminus of ATP7B,involved in subcellular transport and copper efflux
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O + Cu(+)(Side 1) = ADP + phosphate + Cu(+)(Side 2)
UniProtKB/Swiss-Prot Function:
Involved in the export of copper out of the cells, such as the efflux of hepatic copper into the bile

Enzyme Numbers (IUBMB) for ATP7B Gene

Gene Ontology (GO) - Molecular Function for ATP7B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding --
GO:0004008 copper-exporting ATPase activity TAS 16472602
GO:0005507 copper ion binding IDA 12029094
GO:0005515 protein binding IPI 16554302
GO:0005524 ATP binding IDA 15205462
genes like me logo Genes that share ontologies with ATP7B: view
genes like me logo Genes that share phenotypes with ATP7B: view

Animal Models for ATP7B Gene

MGI Knock Outs for ATP7B:

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATP7B

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for ATP7B Gene

Localization for ATP7B Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP7B Gene

Golgi apparatus, trans-Golgi network membrane; Multi-pass membrane protein. Note=Predominantly found in the trans-Golgi network (TGN). Not redistributed to the plasma membrane in response to elevated copper levels.
Isoform 1: Golgi apparatus membrane; Multi-pass membrane protein.
Isoform 2: Cytoplasm.
WND/140 kDa: Mitochondrion.

Subcellular locations from

Jensen Localization Image for ATP7B Gene COMPARTMENTS Subcellular localization image for ATP7B gene
Compartment Confidence
endosome 5
mitochondrion 5
plasma membrane 5
golgi apparatus 4
lysosome 2
cytosol 1
endoplasmic reticulum 1
vacuole 1

Gene Ontology (GO) - Cellular Components for ATP7B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005739 mitochondrion IEA --
GO:0005770 late endosome IDA 15681833
GO:0005802 colocalizes_with trans-Golgi network IDA 15269005
GO:0005887 integral component of plasma membrane TAS 8298641
genes like me logo Genes that share ontologies with ATP7B: view

Pathways for ATP7B Gene

genes like me logo Genes that share pathways with ATP7B: view

Pathways by source for ATP7B Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for ATP7B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006812 cation transport --
GO:0006825 copper ion transport IGI 12572677
GO:0006878 cellular copper ion homeostasis TAS 16554302
GO:0006882 cellular zinc ion homeostasis IEA --
GO:0007595 lactation IEA --
genes like me logo Genes that share ontologies with ATP7B: view

Drugs for ATP7B Gene

(3) Drugbank Compounds for ATP7B Gene

Compound Status Synonyms Cas Number PubChem ID Type Actions PubMed IDs
  • Diaminocyclohexane Oxalatoplatinum
61825-94-3 6857599 Transporter substrate approved, investigational
  • Carboplatin
41575-94-4 38904 Transporter substrate approved
  • CDDP
15663-27-1 441203 Transporter substrate approved

(6) HMDB Compounds for ATP7B Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(Tetrahydrogen triphosphate) Adenosine
  • Adenosindiphosphorsaeure
  • Cis-DDP
  • Copper
  • NFB Orthophosphate

(16) Novoseek inferred chemical compound relationships for ATP7B Gene

Compound -log(P) Hits PubMed IDs
copper 90.1 240
acyl phosphate 68.1 1
tetrathiomolybdate 67 1
copper(i) 59.2 3
cisplatin 58.2 75

(3) PharmGKB related drug/compound annotations for ATP7B Gene

Drug/compound Annotation
carboplatin Clinical Annotation
Platinum compounds Clinical Annotation
taxanes Clinical Annotation
genes like me logo Genes that share compounds with ATP7B: view

Transcripts for ATP7B Gene

Unigene Clusters for ATP7B Gene

ATPase, Cu++ transporting, beta polypeptide:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATP7B

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP7B Gene

No ASD Table

Relevant External Links for ATP7B Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ATP7B Gene

mRNA expression in normal human tissues for ATP7B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ATP7B Gene

This gene is overexpressed in Liver (4.6) and Testis (4.5).

Protein differential expression in normal tissues for ATP7B Gene

This gene is overexpressed in Fetal Liver (48.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ATP7B Gene

SOURCE GeneReport for Unigene cluster for ATP7B Gene Hs.492280

mRNA Expression by UniProt/SwissProt for ATP7B Gene

Tissue specificity: Most abundant in liver and kidney and also found in brain. Isoform 2 is expressed in brain but not in liver. The cleaved form WND/140 kDa is found in liver cell lines and other tissues
genes like me logo Genes that share expressions with ATP7B: view

Expression partners for ATP7B Gene

* - Elite partner

Primer Products

In Situ Assay Products

Orthologs for ATP7B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP7B Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia ATP7B 35
  • 82.29 (n)
  • 83.12 (a)
ATP7B 36
  • 79 (a)
(Canis familiaris)
Mammalia ATP7B 35
  • 85.87 (n)
  • 85.54 (a)
ATP7B 36
  • 82 (a)
(Mus musculus)
Mammalia Atp7b 35
  • 83.86 (n)
  • 83.79 (a)
Atp7b 16
Atp7b 36
  • 82 (a)
(Pan troglodytes)
Mammalia LOC452734 35
  • 98.86 (n)
  • 98.57 (a)
ATP7B 36
  • 97 (a)
(Rattus norvegicus)
Mammalia Atp7b 35
  • 83.52 (n)
  • 83.33 (a)
(Monodelphis domestica)
Mammalia ATP7B 36
  • 77 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 87 (a)
-- 36
  • 65 (a)
(Gallus gallus)
Aves ATP7B 35
  • 70.35 (n)
  • 71.52 (a)
ATP7B 36
  • 66 (a)
(Anolis carolinensis)
Reptilia ATP7B 36
  • 67 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia atp7b 35
  • 67.69 (n)
  • 69.23 (a)
(Danio rerio)
Actinopterygii atp7b 35
  • 64.31 (n)
  • 64.07 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG1886 37
  • 47 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PCA1 36
  • 23 (a)
CCC2 38
thale cress
(Arabidopsis thaliana)
eudicotyledons RAN1 35
  • 51.32 (n)
  • 44.95 (a)
(Oryza sativa)
Liliopsida Os02g0172600 35
  • 49.71 (n)
  • 42.81 (a)
(Zea mays)
Liliopsida Zm.4570 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 47 (a)
Species with no ortholog for ATP7B:
  • 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)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ATP7B Gene

Gene Tree for ATP7B (if available)
Gene Tree for ATP7B (if available)

Paralogs for ATP7B Gene

Paralogs for ATP7B Gene Pseudogenes for ATP7B Gene

genes like me logo Genes that share paralogs with ATP7B: view

Variants for ATP7B Gene

Sequence variations from dbSNP and Humsavar for ATP7B Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type MAF
rs479752 -- 51,906,015(-) AGTCA(C/T)CACTG intron-variant
rs752569 -- 51,957,824(+) AAGTC(C/T)GGGAA intron-variant
rs754609 -- 51,954,673(+) AGGGT(A/G)CCTTT intron-variant
rs942463 -- 51,956,430(-) CCATT(G/T)TCAGA intron-variant
rs958031 -- 51,917,552(+) AGATG(A/C)TAGGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATP7B Gene

Variant ID Type Subtype PubMed ID
nsv507698 CNV Insertion 20534489
nsv900082 CNV Gain 21882294

Relevant External Links for ATP7B Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

PCR Panel Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP7B Gene

Disorders for ATP7B Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for ATP7B Gene in MalaCards »

(2) Diseases for ATP7B Gene

(1) OMIM Diseases for ATP7B Gene (606882)


  • Wilson disease (WD) [MIM:277900]: An autosomal recessive disorder of copper metabolism in which copper cannot be incorporated into ceruloplasmin in liver, and cannot be excreted from the liver into the bile. Copper accumulates in the liver and subsequently in the brain and kidney. The disease is characterized by neurologic manifestations and signs of cirrhosis. {ECO:0000269 PubMed:10051024, ECO:0000269 PubMed:10194254, ECO:0000269 PubMed:10447265, ECO:0000269 PubMed:10453196, ECO:0000269 PubMed:10502776, ECO:0000269 PubMed:10502777, ECO:0000269 PubMed:10544227, ECO:0000269 PubMed:10721669, ECO:0000269 PubMed:10790207, ECO:0000269 PubMed:11043508, ECO:0000269 PubMed:11093740, ECO:0000269 PubMed:11180609, ECO:0000269 PubMed:11216666, ECO:0000269 PubMed:11243728, ECO:0000269 PubMed:11690702, ECO:0000269 PubMed:11954751, ECO:0000269 PubMed:12325021, ECO:0000269 PubMed:12376745, ECO:0000269 PubMed:12544487, ECO:0000269 PubMed:14639035, ECO:0000269 PubMed:14966923, ECO:0000269 PubMed:14986826, ECO:0000269 PubMed:15024742, ECO:0000269 PubMed:15557537, ECO:0000269 PubMed:15811015, ECO:0000269 PubMed:15845031, ECO:0000269 PubMed:15952988, ECO:0000269 PubMed:15967699, ECO:0000269 PubMed:16088907, ECO:0000269 PubMed:16207219, ECO:0000269 PubMed:16283883, ECO:0000269 PubMed:17718866, ECO:0000269 PubMed:18373411, ECO:0000269 PubMed:21682854, ECO:0000269 PubMed:7626145, ECO:0000269 PubMed:8298641, ECO:0000269 PubMed:8533760, ECO:0000269 PubMed:8782057, ECO:0000269 PubMed:8931691, ECO:0000269 PubMed:8938442, ECO:0000269 PubMed:8980283, ECO:0000269 PubMed:9222767, ECO:0000269 PubMed:9311736, ECO:0000269 PubMed:9452121, ECO:0000269 PubMed:9482578, ECO:0000269 PubMed:9554743, ECO:0000269 PubMed:9671269, ECO:0000269 PubMed:9772425, ECO:0000269 PubMed:9829905, ECO:0000269 PubMed:9887381}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(23) Novoseek inferred disease relationships for ATP7B Gene

Disease -log(P) Hits PubMed IDs
wilson disease 97.9 149
menkes disease 90.8 22
genetic disorder 50.2 5
ovarian carcinoma 40.3 18
cirrhosis 34.7 1

Relevant External Links for ATP7B

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with ATP7B: view

No data available for Genatlas for ATP7B Gene

Publications for ATP7B Gene

  1. Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients. (PMID: 15024742) Deguti M.M. … Schmidt H.H.-J. (Hum. Mutat. 2004) 3 4 23 48
  2. Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. (PMID: 15967699) Vrabelova S. … Kozak L. (Mol. Genet. Metab. 2005) 3 4 23 48
  3. Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease. (PMID: 14966923) Liu X.-Q. … Wang M.-X. (World J. Gastroenterol. 2004) 3 4 23 48
  4. High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by limited sequencing and phenotype-genotype analysis. (PMID: 11690702) Caca K. … Berr F. (J. Hepatol. 2001) 3 4 23 48
  5. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. (PMID: 8298641) Tanzi R.E. … Gilliam T.C. (Nat. Genet. 1993) 2 3 4 23

Products for ATP7B Gene

  • Addgene plasmids for ATP7B

Sources for ATP7B Gene

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