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Aliases for ATP7B Gene

Aliases for ATP7B Gene

  • ATPase Copper Transporting Beta 2 3 5
  • Copper Pump 2 2 3 4
  • ATPase, Cu++ Transporting, Beta Polypeptide 2 3
  • Wilson Disease-Associated Protein 3 4
  • Copper-Transporting ATPase 2 2 3
  • WND 3 4
  • 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 3.6.3.54 4
  • EC 3.6.3.4 61
  • EC 3.6.3 61
  • 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 Copper Transporting Beta) 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 nucleotide binding and cation-transporting 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

Enhancers for ATP7B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around ATP7B on UCSC Golden Path with GeneCards custom track

Promoters for ATP7B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for ATP7B Gene

Chromosome:
13
Start:
51,891,086 bp from pter
End:
52,012,125 bp from pter
Size:
121,040 bases
Orientation:
Minus strand

Genomic View for ATP7B Gene

Genes around ATP7B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP7B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    P35670-ATP7B_HUMAN
    Recommended name:
    Copper-transporting ATPase 2
    Protein Accession:
    P35670
    Secondary Accessions:
    • Q16318
    • Q16319
    • Q4U3V3
    • Q59FJ9
    • Q5T7X7

    Protein attributes for ATP7B Gene

    Size:
    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.
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP7B Gene

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 Lys 489, Lys 607, and Lys 1028
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cloud-Clone Corp. Antibodies for ATP7B

Domains & Families for ATP7B Gene

Gene Families for ATP7B Gene

Graphical View of Domain Structure for InterPro Entry

P35670

UniProtKB/Swiss-Prot:

ATP7B_HUMAN :
  • 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.
Domain:
  • 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.
Family:
  • 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: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
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with ATP7B: view
genes like me logo Genes that share phenotypes with ATP7B: view

Human Phenotype Ontology for ATP7B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ATP7B Gene

MGI Knock Outs for ATP7B:

Animal Model Products

CRISPR Products

Inhibitory RNA 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. {ECO:0000269 PubMed:22240481, ECO:0000269 PubMed:24706876, ECO:0000269 PubMed:9307043}.
Isoform 1: Golgi apparatus membrane; Multi-pass membrane protein.
Isoform 2: Cytoplasm.
WND/140 kDa: Mitochondrion.

Subcellular locations from

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

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

Pathways by source for ATP7B Gene

Gene Ontology (GO) - Biological Process for ATP7B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006825 copper ion transport IMP 9837819
GO:0006878 cellular copper ion homeostasis TAS 16554302
GO:0006882 cellular zinc ion homeostasis IEA --
GO:0007595 lactation IEA --
GO:0007623 circadian rhythm IEA --
genes like me logo Genes that share ontologies with ATP7B: view

No data available for SIGNOR curated interactions for ATP7B Gene

Drugs & Compounds for ATP7B Gene

(16) Drugs for ATP7B Gene - From: DrugBank, PharmGKB, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carboplatin Approved Pharma Transporter, substrate Antitumor agent that forms platinum-DNA adducts., Platinum 1942
Cisplatin Approved Pharma Transporter, substrate Inhibits DNA synthesis,chemotherapy drug, Platinum, Potent pro-apoptotic anticancer agent; activates caspase-3 2614
Oxaliplatin Approved, Investigational Pharma Transporter, substrate Antitumor agent, Platinum 1366
Copper Approved Pharma 166
Eloxatin Approved August 2002 Pharma 0

(7) Additional Compounds for ATP7B Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
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:

CRISPR Products

Inhibitory RNA Products

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
ATP7B
ECgene alternative splicing isoforms for
ATP7B

Expression for ATP7B Gene

mRNA expression in normal human tissues for ATP7B Gene

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

This gene is overexpressed in Liver (x4.6) and Testis (x4.5).

Protein differential expression in normal tissues from HIPED for ATP7B Gene

This gene is overexpressed in Fetal Liver (48.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ATP7B Gene



Protein tissue co-expression partners for ATP7B Gene

NURSA nuclear receptor signaling pathways regulating expression of ATP7B Gene:

ATP7B

SOURCE GeneReport for Unigene cluster for ATP7B Gene:

Hs.492280

mRNA Expression by UniProt/SwissProt for ATP7B Gene:

P35670-ATP7B_HUMAN
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 expression patterns with ATP7B: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for ATP7B Gene

Orthologs for ATP7B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP7B Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ATP7B 34
  • 82.29 (n)
  • 83.12 (a)
ATP7B 35
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP7B 34
  • 85.87 (n)
  • 85.54 (a)
ATP7B 35
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp7b 34
  • 83.86 (n)
  • 83.79 (a)
Atp7b 16
Atp7b 35
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp7b 34
  • 83.52 (n)
  • 83.33 (a)
oppossum
(Monodelphis domestica)
Mammalia ATP7B 35
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 65 (a)
OneToMany
-- 35
  • 87 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia ATP7B 35
  • 97 (a)
OneToOne
LOC452734 34
  • 98.86 (n)
  • 98.57 (a)
chicken
(Gallus gallus)
Aves ATP7B 34
  • 70.35 (n)
  • 71.52 (a)
ATP7B 35
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP7B 35
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp7b 34
  • 67.69 (n)
  • 69.23 (a)
zebrafish
(Danio rerio)
Actinopterygii atp7b 34
  • 64.31 (n)
  • 64.07 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG1886 36
  • 47 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PCA1 35
  • 23 (a)
OneToMany
CCC2 37
thale cress
(Arabidopsis thaliana)
eudicotyledons RAN1 34
  • 51.32 (n)
  • 44.95 (a)
rice
(Oryza sativa)
Liliopsida Os02g0172600 34
  • 49.71 (n)
  • 42.81 (a)
corn
(Zea mays)
Liliopsida Zm.4570 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 47 (a)
OneToMany
Species where no ortholog for ATP7B 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)
  • 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

ENSEMBL:
Gene Tree for ATP7B (if available)
TreeFam:
Gene Tree for ATP7B (if available)

Paralogs for ATP7B Gene

Paralogs for ATP7B Gene

Pseudogenes.org 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
VAR_000703 Wilson disease (WD)
VAR_000704 -
VAR_000705 -
rs1801243 - 51,974,004(-) ATCCC(A/G/T)CTGTA nc-transcript-variant, upstream-variant-2KB, reference, missense
VAR_000707 -

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

Variant ID Type Subtype PubMed ID
dgv1652n100 CNV loss 25217958
esv2763022 CNV loss 21179565
esv3580641 CNV loss 25503493
esv3892343 CNV gain 25118596
nsv1041996 CNV loss 25217958
nsv473391 CNV novel sequence insertion 20440878
nsv507698 OTHER sequence alteration 20534489
nsv561649 CNV loss 21841781
nsv983587 CNV duplication 23825009

Variation tolerance for ATP7B Gene

Residual Variation Intolerance Score: 81% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.29; 88.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATP7B Gene

Human Gene Mutation Database (HGMD)
ATP7B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP7B

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

Disorders for ATP7B Gene

MalaCards: The human disease database

(11) MalaCards diseases for ATP7B Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
wilson disease
  • cerebral pseudosclerosis
menkes disease
  • copper transport disease
metal metabolism disorder
  • inborn metal metabolism disorder
inherited metabolic disorder
  • inborn errors of metabolism
mednik syndrome
  • mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma
- elite association - COSMIC cancer census association via MalaCards
Search ATP7B in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ATP7B_HUMAN
  • 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:22240481, ECO:0000269 PubMed:23333878, ECO:0000269 PubMed:24706876, 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:9837819, ECO:0000269 PubMed:9887381}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ATP7B

Genetic Association Database (GAD)
ATP7B
Human Genome Epidemiology (HuGE) Navigator
ATP7B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP7B
genes like me logo Genes that share disorders with ATP7B: view

No data available for Genatlas for ATP7B Gene

Publications for ATP7B Gene

  1. 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 22 46 65
  2. 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 22 46 65
  3. 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 22 46 65
  4. Interactions between copper-binding sites determine the redox status and conformation of the regulatory N-terminal domain of ATP7B. (PMID: 20032459) LeShane E.S. … Lutsenko S. (J. Biol. Chem. 2010) 3 4 22 65
  5. Genetic polymorphisms of copper- and platinum drug-efflux transporters ATP7A and ATP7B in Japanese cancer patients. (PMID: 20045993) Fukushima-Uesaka H. … Sawada J. (Drug Metab. Pharmacokinet. 2009) 3 22 46 65

Products for ATP7B Gene

Sources for ATP7B Gene

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