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 is a monomer, and functions as a copper-transporting ATPase which exports copper out of the cells, such as the efflux of h... See more...

Aliases for ATP7B Gene

Aliases for ATP7B Gene

  • ATPase Copper Transporting Beta 2 3 5
  • Copper-Transporting ATPase 2 2 3 4
  • Copper Pump 2 2 3 4
  • ATPase, Cu++ Transporting, Beta Polypeptide 2 3
  • Wilson Disease-Associated Protein 3 4
  • PWD 3 4
  • WC1 3 4
  • WND 3 4
  • ATPase, Cu++ Transporting, Beta Polypeptide (Wilson Disease) 2
  • ATPase, Cu(2+)- Transporting, Beta Polypeptide 3
  • Copper-Transporting Protein ATP7B 3
  • Wilson Disease 2
  • EC 3.6.3.4 51
  • EC 7.2.2.8 4
  • EC 3.6.3 51
  • ATP7B 5
  • 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
  • GC13M051905

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 is a monomer, and functions as a copper-transporting ATPase which exports 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 which is characterized by copper accumulation. [provided by RefSeq, Dec 2019]

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 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Platinum drug resistance. Gene Ontology (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 Summary for ATP7B Gene

  • Copper ion transmembrane transporter involved in the export of copper out of the cells. It is involved in copper homeostasis in the liver, where it ensures the efflux of copper from hepatocytes into the bile in response to copper overload.

Gene Wiki entry for ATP7B Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATP7B Gene

Genomics for ATP7B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ATP7B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13J052009 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 291.5 +0.2 205 4.2 CHD2 TBP SP1 MXD4 CEBPA NR2C1 MNT SMAD5 IRF2 ZFP64 ATP7B ALG11 NEK3 TPTE2P2 lnc-NEK5-2 CCDC70
GH13J051995 Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas 39.4 +14.6 14629 5.8 FEZF1 CEBPA FOXA1 IKZF1 ZIC2 HOMEZ KDM6A THAP11 FOXA2 SMAD4 ATP7B NEK3 NEK5 TPTE2P2 UTP14C CCDC70 DHRS12 ENSG00000231856 piR-55036-027 lnc-NEK5-2
GH13J052070 Enhancer 0.9 Ensembl ENCODE 46.6 -59.0 -59045 0.6 CTCF FOXA2 VEZF1 RAD21 JUND FOSL1 HLTF ATF1 HDAC2 ZEB2 ATP7B NEK5 ALG11 UTP14C piR-56759-143 piR-36393-137
GH13J052616 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE CraniofacialAtlas 13.3 -605.4 -605371 2.6 CHD2 TBP SP1 MXD4 SIX5 NR2C1 DEK SMAD5 ETS1 ZFP64 HNRNPA1L2 TPTE2P2 ATP7B CKAP2 ENSG00000273784 MRPS31P4 LINC00345
GH13J052158 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.5 -148.8 -148818 5.5 MXD4 FEZF1 CEBPA MNT HES1 ZFP64 BHLHE40 ELF1 THAP11 ZNF395 NEK3 lnc-NEK5-3 TPTE2P2 ATP7B NEK5 HSALNG0097245 HSALNG0097247 THSD1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP7B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATP7B

Top Transcription factor binding sites by QIAGEN in the ATP7B gene promoter:
  • C/EBPalpha
  • CHOP-10
  • COMP1
  • GATA-1
  • ISGF-3
  • MRF-2
  • NRSF form 2
  • p53
  • Sp1

Genomic Locations for ATP7B Gene

Latest Assembly
chr13:51,930,436-52,012,130
(GRCh38/hg38)
Size:
81,695 bases
Orientation:
Minus strand

Previous Assembly
chr13:52,506,805-52,585,586
(GRCh37/hg19 by Entrez Gene)
Size:
78,782 bases
Orientation:
Minus strand

chr13:52,506,809-52,585,630
(GRCh37/hg19 by Ensembl)
Size:
78,822 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 (PubMed:12968035, PubMed:17919502). Interacts with DCTN4, in a copper-dependent manner (PubMed:16554302). Interacts with ATOX1 (PubMed:18558714, PubMed:17919502). Interacts (via C-terminus) with ZBTB16/PLZF (PubMed:16676348).
    SequenceCaution:
    • Sequence=AAA16173.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAA79211.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAA79212.1; Type=Frameshift; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 5]: May arise by a -1 programmed ribosomal frameshift at codon 233. A nucleotide 'slippery sequence' followed by an mRNA pseudoknot are found downstream of the frameshift site and direct frameshifting of a gene fragment with about 10% efficiency.

    Three dimensional structures from OCA and Proteopedia for ATP7B Gene

    Alternative splice isoforms for ATP7B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP7B Gene

Selected DME Specific Peptides for ATP7B Gene

P35670:
  • IIRFAFQ
  • PNAHHLDHK
  • ITGMTCASCVHNIESKL
  • KGQTAILVAIDGVLCGMIA
  • KVFAEVLPSHKVAKV
  • DPEIIGPRDI
  • ANMDVLIVLAT
  • ITGMTCA
  • VLIGNREW
  • IRNDLLDVVASI
  • KTSEALA
  • VAIEAAD
  • QTTDGTP
  • SSVSVVLSSL
  • DKTGTIT
  • GMHCKSCV
  • VWIVIGF
  • SITVLCIACPCSLGLATPTAVMVGTGV
  • VAMVGDG
  • PALAQAD
  • SLQATEAT
  • GILIKGG
  • VSLSNQEAVITYQPYLIQP
  • GMTCASCV
  • YCKEELGTETLG
  • FDTPPMLFVFIALGRWLEH
  • GTDVAIE
  • KKPGSTVIAGSIN
  • TGEAMPV
  • KVVPGGKFPVDG

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

Domains & Families for ATP7B Gene

Gene Families for ATP7B Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for ATP7B Gene

InterPro:
Blocks:
  • ATPase, E1-E2 type
  • E1-E2 ATPase-associated region
  • Heavy metal transport/detoxification protein
  • Copper-transporting ATPase 1 signature
ProtoNet:

Suggested Antigen Peptide Sequences for ATP7B Gene

GenScript: Design optimal peptide antigens:
  • ATP7B (A1YIY1_HUMAN)
  • Cu++ transporting ATPase beta polypeptide (A6N865_HUMAN)
  • ATPase Cu++ transporting beta polypeptide (A6YQZ0_HUMAN)
  • ATPase Cu++ transporting beta polypeptide (A6YQZ1_HUMAN)
  • ATPase 7B (A7UDR4_HUMAN)

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.
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

UniProtKB/Swiss-Prot Function:
Copper ion transmembrane transporter involved in the export of copper out of the cells. It is involved in copper homeostasis in the liver, where it ensures the efflux of copper from hepatocytes into the bile in response to copper overload.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + Cu(+)(in) + H2O = ADP + Cu(+)(out) + H(+) + phosphate; Xref=Rhea:RHEA:25792, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:49552, ChEBI:CHEBI:456216; EC=7.2.2.8; Evidence={ECO:0000269|PubMed:22240481};.
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

Enzyme Numbers (IUBMB) for ATP7B Gene

Phenotypes From GWAS Catalog for ATP7B Gene

Gene Ontology (GO) - Molecular Function for ATP7B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005375 copper ion transmembrane transporter activity IDA 26004889
GO:0005507 copper ion binding IDA 12029094
GO:0005515 protein binding IPI 12968035
GO:0005524 ATP binding IEA,IDA 15205462
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:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP7B

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. Late endosome. Note=Predominantly found in the trans-Golgi network (TGN). Localized in the trans-Golgi network under low copper conditions, redistributes to cytoplasmic vesicles when cells are exposed to elevated copper levels, and then recycles back to the trans-Golgi network when copper is removed (PubMed:10942420). {ECO:0000269 PubMed:10942420, 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
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 ATP7B gene
Compartment Confidence
plasma membrane 5
endosome 5
golgi apparatus 5
mitochondrion 4
extracellular 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
lysosome 2
cytoskeleton 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ATP7B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005768 endosome IEA --
GO:0005770 late endosome IEA,IDA 15681833
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

1 BioSystems pathway for ATP7B Gene
1 PharmGKB pathway for ATP7B Gene
2 KEGG pathways for ATP7B Gene

Gene Ontology (GO) - Biological Process for ATP7B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006812 cation transport IEA --
GO:0006825 copper ion transport IMP 9837819
GO:0006878 cellular copper ion homeostasis IBA,TAS 16554302
GO:0015677 copper ion import IDA 16472602
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, 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 2753
Cisplatin Approved Pharma Transporter, substrate Inhibits DNA synthesis,chemotherapy drug, Potent pro-apoptotic anticancer agent; activates caspase-3, Platinum 3579
Copper Approved, Investigational Pharma Transporter, substrate 271
Oxaliplatin Approved, Investigational Pharma Transporter, substrate Antitumor agent, Platinum 2044
Water Approved Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
58-64-0
genes like me logo Genes that share compounds with ATP7B: view

Transcripts for ATP7B Gene

mRNA/cDNA for ATP7B Gene

5 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
26 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP7B

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

No ASD Table

Relevant External Links for ATP7B Gene

GeneLoc Exon Structure for
ATP7B

Expression for ATP7B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for ATP7B Gene



Protein tissue co-expression partners for ATP7B Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for ATP7B Gene

  • Liver(4.6)
  • Nervous system(4.5)
  • Blood(2.3)
  • Kidney(2.2)
  • Intestine(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP7B Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • ear
  • eye
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • pharynx
  • salivary gland
  • skull
Thorax:
  • breast
  • chest wall
  • clavicle
  • esophagus
  • heart
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • duodenum
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • pelvis
  • rectum
  • testicle
  • ureter
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with ATP7B: view

Primer products for research

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
Chimpanzee
(Pan troglodytes)
Mammalia LOC452734 30
  • 98.86 (n)
ATP7B 31
  • 97 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 87 (a)
OneToMany
-- 31
  • 65 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia ATP7B 30 31
  • 85.87 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Atp7b 30 17 31
  • 83.86 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Atp7b 30
  • 83.52 (n)
Cow
(Bos Taurus)
Mammalia ATP7B 30 31
  • 82.29 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ATP7B 31
  • 77 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ATP7B 30 31
  • 70.35 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ATP7B 31
  • 67 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia atp7b 30
  • 67.69 (n)
Zebrafish
(Danio rerio)
Actinopterygii atp7b 30
  • 64.31 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG1886 32
  • 47 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PCA1 31
  • 23 (a)
OneToMany
CCC2 33
Thale Cress
(Arabidopsis thaliana)
eudicotyledons RAN1 30
  • 51.32 (n)
Rice
(Oryza sativa)
Liliopsida Os02g0172600 30
  • 49.71 (n)
Corn
(Zea mays)
Liliopsida Zm.4570 30
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 47 (a)
OneToMany
Species where no ortholog for ATP7B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ATP7B: view image

Paralogs for ATP7B Gene

(1) SIMAP similar genes for ATP7B Gene using alignment to 36 proteins:

  • ATP7B_HUMAN
  • A1YIY1_HUMAN
  • A6N865_HUMAN
  • A6YQZ0_HUMAN
  • A6YQZ1_HUMAN
  • A7UDR4_HUMAN
  • B7ZLR2_HUMAN
  • B7ZLR3_HUMAN
  • B7ZLR4_HUMAN
  • C0LF55_HUMAN
  • C8BMD5_HUMAN
  • D3KCZ0_HUMAN
  • E7EQQ2_HUMAN
  • E7ET55_HUMAN
  • F5H562_HUMAN
  • F5H748_HUMAN
  • F6XIH0_HUMAN
  • G1FFE8_HUMAN
  • G1FFE9_HUMAN
  • G1FFF0_HUMAN
  • G1FFF1_HUMAN
  • G1FFF2_HUMAN
  • G1FFF3_HUMAN
  • G8FXH4_HUMAN
  • Q17RT3_HUMAN
  • Q52RG2_HUMAN
  • Q52RG3_HUMAN
  • Q52RG4_HUMAN
  • Q52RG5_HUMAN
  • Q52RG6_HUMAN
  • Q9GZP5_HUMAN
  • Q9HBD5_HUMAN
  • Q9HBD6_HUMAN
  • Q9HBD7_HUMAN
  • Q9HBD8_HUMAN
  • Q9HBD9_HUMAN

Pseudogenes.org Pseudogenes for ATP7B Gene

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

Variants for ATP7B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATP7B Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
834759 Pathogenic: Wilson disease 51,974,415(-) T/TA
NM_000053.4(ATP7B):c.804dup (p.Lys269Ter)
SPLICE_DONOR_VARIANT,NONSENSE
835191 Pathogenic: Wilson disease 51,958,508(-) TG/T
NM_000053.4(ATP7B):c.2157del (p.Ala718_Tyr719insTer)
NONSENSE,INTRON
835275 Pathogenic: Wilson disease 51,937,337(-) C/G
NM_000053.4(ATP7B):c.3960G>C (p.Arg1320Ser)
MISSENSE
840191 Uncertain Significance: Wilson disease 51,934,839(-) A/G
NM_000053.4(ATP7B):c.4315T>C (p.Ser1439Pro)
MISSENSE
843610 Likely Pathogenic: Wilson disease 51,944,293(-) T/C
NM_000053.4(ATP7B):c.3061-2A>G
SPLICE_ACCEPTOR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ATP7B Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for ATP7B Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for ATP7B Gene

MalaCards: The human disease database

(18) MalaCards diseases for ATP7B Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- 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:10942420, ECO:0000269 PubMed:11043508, ECO:0000269 PubMed:11093740, ECO:0000269 PubMed:11180609, ECO:0000269 PubMed:11216666, ECO:0000269 PubMed:11231950, ECO:0000269 PubMed:11243728, ECO:0000269 PubMed:11405812, 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:16649058, ECO:0000269 PubMed:17718866, ECO:0000269 PubMed:17823867, ECO:0000269 PubMed:17919502, ECO:0000269 PubMed:17949296, ECO:0000269 PubMed:18203200, ECO:0000269 PubMed:18373411, ECO:0000269 PubMed:19033537, ECO:0000269 PubMed:20333758, ECO:0000269 PubMed:21398519, ECO:0000269 PubMed:21454443, ECO:0000269 PubMed:21645214, ECO:0000269 PubMed:21682854, ECO:0000269 PubMed:22075048, ECO:0000269 PubMed:22240481, ECO:0000269 PubMed:22484412, ECO:0000269 PubMed:22763723, ECO:0000269 PubMed:23159873, ECO:0000269 PubMed:23235335, ECO:0000269 PubMed:23275100, ECO:0000269 PubMed:23333878, ECO:0000269 PubMed:23518715, ECO:0000269 PubMed:23962630, ECO:0000269 PubMed:24476933, ECO:0000269 PubMed:24555712, ECO:0000269 PubMed:24706876, ECO:0000269 PubMed:25704634, ECO:0000269 PubMed:25982861, ECO:0000269 PubMed:26004889, ECO:0000269 PubMed:28856630, ECO:0000269 PubMed:32284880, 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 variants affecting the gene represented in this entry.

Additional Disease Information for ATP7B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 (Molecular genetics and metabolism 2005) 3 4 23 41
  2. Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients. (PMID: 15024742) Deguti MM … Schmidt HH (Human mutation 2004) 3 4 23 41
  3. Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease. (PMID: 14966923) Liu XQ … Wang MX (World journal of gastroenterology 2004) 3 4 23 41
  4. Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions. (PMID: 7833924) Petrukhin K … Gilliam TC (Human molecular genetics 1994) 3 4 23 74
  5. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. (PMID: 8298639) Bull PC … Cox DW (Nature genetics 1993) 2 3 4 74

Products for ATP7B Gene

  • Addgene plasmids for ATP7B

Sources for ATP7B Gene