ATP7B

Summary

ATP7B (ATPase copper transporting beta, HGNC:870) is a protein-coding gene on chromosome 13q14.3, encoding Copper-transporting ATPase 2 (P35670). Copper ion transmembrane transporter involved in the export of copper out of the cells.

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.

Source: NCBI Gene 540 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Wilson disease (Definitive, ClinGen)
• GWAS associations: 3
• Clinical variants (ClinVar): 3,682 total — 326 pathogenic, 313 likely-pathogenic
• Phenotypes (HPO): 106
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_000053

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:870
Approved symbol	ATP7B
Name	ATPase copper transporting beta
Location	13q14.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000123191
Ensembl biotype	protein_coding
OMIM	606882
Entrez	540

Gene structure

Transcript identifiers

Ensembl transcripts: 32 — 15 protein_coding, 9 retained_intron, 5 protein_coding_CDS_not_defined, 3 nonsense_mediated_decay

ENST00000242839, ENST00000400366, ENST00000400370, ENST00000418097, ENST00000448424, ENST00000466629, ENST00000482841, ENST00000483772, ENST00000634296, ENST00000634308, ENST00000634519, ENST00000634620, ENST00000634810, ENST00000634844, ENST00000635406, ENST00000673696, ENST00000673772, ENST00000673789, ENST00000673844, ENST00000673864, ENST00000673867, ENST00000673923, ENST00000674078, ENST00000674126, ENST00000674147, ENST00000713659, ENST00000713660, ENST00000873567, ENST00000873568, ENST00000873569, ENST00000873570, ENST00000911501

RefSeq mRNA: 41 — MANE Select: NM_000053 NM_000053, NM_001005918, NM_001243182, NM_001330578, NM_001330579, NM_001406511, NM_001406512, NM_001406513, NM_001406514, NM_001406515, NM_001406516, NM_001406517, NM_001406518, NM_001406519, NM_001406520, NM_001406521, NM_001406522, NM_001406523, NM_001406524, NM_001406525, NM_001406526, NM_001406527, NM_001406528, NM_001406530, NM_001406531, NM_001406532, NM_001406534, NM_001406535, NM_001406536, NM_001406537, NM_001406538, NM_001406539, NM_001406540, NM_001406541, NM_001406542, NM_001406543, NM_001406544, NM_001406545, NM_001406546, NM_001406547, NM_001406548

CCDS: CCDS41892, CCDS45049, CCDS58293, CCDS81768, CCDS91810

Canonical transcript exons

ENST00000242839 — 21 exons

Exon	Start	End
ENSE00001595712	51937476	51937679
ENSE00001612752	51937276	51937393
ENSE00001665491	51935593	51935695
ENSE00001687534	51939051	51939193
ENSE00001770820	51941081	51941224
ENSE00001778246	51961837	51961913
ENSE00001797943	51960148	51960322
ENSE00003462675	51973935	51975168
ENSE00003473904	51957516	51957607
ENSE00003510725	51942386	51942554
ENSE00003512267	51970492	51970749
ENSE00003543248	51946284	51946478
ENSE00003556217	51958311	51958544
ENSE00003562768	51968444	51968607
ENSE00003568701	51944109	51944291
ENSE00003573120	51950007	51950161
ENSE00003609375	51964872	51965033
ENSE00003684567	51950272	51950399
ENSE00003897275	51932669	51935029
ENSE00004020597	52011287	52011450
ENSE00004020598	51949662	51949796

Expression profiles

Bgee: expression breadth ubiquitous, 205 present calls, max score 90.58.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.4204 / max 74.5436, expressed in 1190 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
137406	2.6497	1154
137405	0.5676	170
137404	0.0849	33
137403	0.0707	36
137396	0.0192	3
137398	0.0179	7
137397	0.0104	4

Top tissues by expression

291 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
nasal cavity epithelium	UBERON:0005384	90.58	gold quality
right testis	UBERON:0004534	87.08	gold quality
nasal cavity mucosa	UBERON:0001826	86.92	gold quality
left testis	UBERON:0004533	86.75	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	86.12	gold quality
jejunal mucosa	UBERON:0000399	85.79	gold quality
right lobe of liver	UBERON:0001114	85.64	gold quality
germinal epithelium of ovary	UBERON:0001304	85.52	gold quality
testis	UBERON:0000473	84.27	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.33	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.09	gold quality
right hemisphere of cerebellum	UBERON:0014890	82.50	gold quality
liver	UBERON:0002107	82.02	gold quality
cerebellar hemisphere	UBERON:0002245	81.75	gold quality
cerebellar cortex	UBERON:0002129	81.62	gold quality
mucosa of paranasal sinus	UBERON:0005030	81.57	gold quality
gall bladder	UBERON:0002110	81.36	gold quality
secondary oocyte	CL:0000655	80.96	gold quality
apex of heart	UBERON:0002098	80.79	gold quality
pancreatic ductal cell	CL:0002079	80.21	gold quality
duodenum	UBERON:0002114	80.12	gold quality
cerebellum	UBERON:0002037	79.14	gold quality
cortical plate	UBERON:0005343	78.65	gold quality
ganglionic eminence	UBERON:0004023	78.06	gold quality
mucosa of transverse colon	UBERON:0004991	77.93	gold quality
ventricular zone	UBERON:0003053	77.56	gold quality
oocyte	CL:0000023	77.55	gold quality
transverse colon	UBERON:0001157	76.45	gold quality
colonic epithelium	UBERON:0000397	76.31	gold quality
omental fat pad	UBERON:0010414	76.14	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-8060	yes	91.50
E-ANND-3	yes	6.23

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

93 targeting ATP7B, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-10401-5P	99.99	65.79	948
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-3912-5P	99.95	66.11	925
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-10523-5P	99.91	69.22	2038
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-7162-3P	99.89	68.16	1682
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-4503	99.85	71.45	1869
HSA-MIR-576-5P	99.84	70.46	2582
HSA-MIR-548AZ-5P	99.83	69.94	3230
HSA-MIR-548T-5P	99.83	69.91	3220
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-8080	99.82	67.52	1342
HSA-MIR-1273H-5P	99.77	66.32	2471

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• Copper specifically regulates intracellular phosphorylation of the Wilson’s disease protein, a human copper-transporting ATPase. (PMID:11470780)
• Missense mutation, Arg779Leu, was identified in 14 WD patients, and the frequency of this mutation in Chinese patients was 30%. (PMID:11775546)
• ATP7B expression is upregulated in breast carcinoma (PMID:11802810)
• Zinc binding to the NH2-terminal domain of the Wilson disease copper-transporting ATPase: implications for in vivo metal ion-mediated regulation of ATPase activity. (PMID:11823463)
• frequency of common Wilson diease gene mutations in Hungarian patients (PMID:11857545)
• Metallochaperone Atox1 transfers copper to the NH2-terminal domain and regulates its catalytic activity (PMID:12029094)
• The form of this protein expressed in Sf9 cells is phosphorylated (PMID:12196182)
• the role of ATP7B gene in ovarian carcinoma and its expression compared with those of multidrug resistance-related transporters such as MDR1, MRP1, MRP2, LRP and BCRP genes (PMID:12216079)
• DNA mutations residing in the consensus sequence of WND gene splice sites result in the Wilson disease phenotype by interfering with the production of the normal WND protein. (PMID:12325021)
• This study describes the first report that a copper-transporting P-type adenosine triphosphatase, ATP7B, is expressed in human gastric carcinomas (PMID:12445675)
• mutated in Wilson disease. (PMID:12539960)
• molecular architecture and major biochemical properties (review) (PMID:12539962)
• R778L, N1270S, and A874V mutations are three major mutations representing approximately 60% of mutated alleles (PMID:12544487)
• Histidine-1069 in an invariant site on this protein and affects its folding and function. (PMID:12551905)
• Defective cellular localization of mutant ATP7B in Wilson’s disease and hepatoma cell lines. H1069Q-ATP7B was trapped in endoplasmic reticulum. Truncated ATP7B mutants showed a diffuse, clustered, cytoplasmic pattern. (PMID:12557139)
• ATP7B is localized in the late endosomes in a polarized hepatocyte cell line. (PMID:12579329)
• Expression of ATP7B was determined in esophageal carcinoma. (PMID:12579336)
• The functional properties of this enzyme in Wilson’s disease are examined with regard to its regulation by Atox1 protein. (PMID:12763797)
• No mutation at the six copper-binding domain and ATP-binding domain of ATP7B was observed in breast, gastric and oral squameous cell carcinomas. (PMID:12820478)
• characterized the ATP7B molecular defect in 80% of Wilson disease chromosomes and found 11 different mutations (PMID:12885331)
• ATP7B is a copper-transporting P-type ATPase defective in the copper transport disorder, Wilson disease (WND). (PMID:14616767)
• handling of copper by Atox1 and copper transfer between Atox1 and WND are under kinetic rather than thermodynamic control (PMID:14709553)
• 1384del17bp is a novel mutation found in WD patients, R778L is the most common mutation of ATP7B gene, and there is a correlation between R778L and hepatic manifestations in WD patient. (PMID:14966923)
• ATP7B has a role in chemoresistance for cisplatin-based chemotherapy in patients with ovarian carcinoma (PMID:15102688)
• copper transporting ATPase Wilson (ATP7B)is present in the syncytiotrophoblast of the human placenta (PMID:15135234)
• Overexpression of ATP7B in hepatocellular carcinoma might be associated with unfavorable clinical outcome in patients treated with cisplatin-based chemotherapy. (PMID:15154620)
• analysis of amino acid pairs sensitive to variants in human copper-transporting ATPase 2 (PMID:15158437)
• analysis of the Wilson disease mutations in the nucleotide-binding domain of ATP7B, the human copper-transporting ATPase (PMID:15205462)
• the result of this study completed sequence DNA analysis linked to the gene ATP-7B from patient wd-1 revealed a novel A to C transversion in exon 17 at position 3856 (A3856C) of the mRNA resulting in a threonine for proline substitution at position 1232. (PMID:15337266)
• Hepatic abnormalities in Long-Evans Cinnamon rats, an animal model of Wilson disease, were restored by the expression of the human ATP7B cDNA under the control of CAG promoter (PMID:15511628)
• the H1069Q mutation is associated with a late and neurologic presentation. (PMID:15519648)
• a novel T766R mutation (PMID:15557537)
• ATP7B resides in the late endosomes with Rab7 and the Niemann-Pick C1 protein and translocates copper from the cytosol to the late endosomal lumen, participating in biliary copper excretion via lysosomes (PMID:15681833)
• The functional study of the Wilson ATPase in a purified, reconstituted system was carried out. (PMID:15963506)
• analysis of novel ATP7B mutations resulting in copper storage in liver and brain in Wilson disease (PMID:16088907)
• Results suggest that WD pathogenesis relates little to the mutations of the promoter region in ATP7B gene in Chinese. (PMID:16215951)
• Wilson disease results from mutations of the ATP7B gene on chromosome 13. (PMID:16230279)
• Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson’s disease. (PMID:16283883)
• The ATP7B is localized to the plasma membrane of both hepatocytes and biliary epithelial cells. (PMID:16377579)
• analysis of the Wilson disease mutations in the nucleotide-binding domain of ATP7B, the human copper-transporting ATPase (PMID:16416207)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	atp7b	ENSDARG00000058145
mus_musculus	Atp7b	ENSMUSG00000006567
rattus_norvegicus	Atp7b	ENSRNOG00000012878
drosophila_melanogaster	ATP7	FBGN0030343
caenorhabditis_elegans		WBGENE00000834
caenorhabditis_elegans		WBGENE00015338
caenorhabditis_elegans		WBGENE00015660

Paralogs (21): ATP2C1 (ENSG00000017260), ATP1A2 (ENSG00000018625), ATP2B4 (ENSG00000058668), ATP2C2 (ENSG00000064270), ATP2B3 (ENSG00000067842), ATP2B1 (ENSG00000070961), ATP2A3 (ENSG00000074370), ATP12A (ENSG00000075673), ATP1A3 (ENSG00000105409), ATP4A (ENSG00000105675), ATP13A1 (ENSG00000105726), ATP13A4 (ENSG00000127249), ATP1A4 (ENSG00000132681), ATP13A3 (ENSG00000133657), ATP2B2 (ENSG00000157087), ATP13A2 (ENSG00000159363), ATP1A1 (ENSG00000163399), ATP7A (ENSG00000165240), ATP2A2 (ENSG00000174437), ATP13A5 (ENSG00000187527), ATP2A1 (ENSG00000196296)

Protein

Protein identifiers

Copper-transporting ATPase 2 — P35670 (reviewed: P35670)

Alternative names: Copper pump 2, Wilson disease-associated protein

All UniProt accessions (12): A0A0U1RQY8, A0A0U1RRG1, A0A669KA36, A0A669KB21, A0A669KB88, A0AAQ5BGL6, A0AAQ5BGP2, B7ZLR4, P35670, E7ET55, F5H562, F5H748

UniProt curated annotations — full annotation on UniProt →

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.

Subunit / interactions. Monomer. Interacts with COMMD1/MURR1. Interacts with DCTN4, in a copper-dependent manner. Interacts with ATOX1. Interacts (via C-terminus) with ZBTB16/PLZF.

Subcellular location. Golgi apparatus. trans-Golgi network membrane. Late endosome Golgi apparatus membrane Cytoplasm Mitochondrion.

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.

Post-translational modifications. Isoform 1 may be proteolytically cleaved at the N-terminus to produce the WND/140 kDa form.

Disease relevance. 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. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. 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.

Miscellaneous. 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.

Similarity. Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IB subfamily.

Isoforms (5)

UniProt ID	Names	Canonical?
P35670-1	1, A	yes
P35670-2	2, B
P35670-3	3
P35670-4	4
P35670-5	5

RefSeq proteins (41): NP_000044, NP_001005918, NP_001230111, NP_001317507, NP_001317508, NP_001393440, NP_001393441, NP_001393442, NP_001393443, NP_001393444, NP_001393445, NP_001393446, NP_001393447, NP_001393448, NP_001393449, NP_001393450, NP_001393451, NP_001393452, NP_001393453, NP_001393454, NP_001393455, NP_001393456, NP_001393457, NP_001393459, NP_001393460, NP_001393461, NP_001393463, NP_001393464, NP_001393465, NP_001393466, NP_001393467, NP_001393468, NP_001393469, NP_001393470, NP_001393471, NP_001393472, NP_001393473, NP_001393474, NP_001393475, NP_001393476, NP_001393477 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001757	P_typ_ATPase	Family
IPR006121	HMA_dom	Domain
IPR006122	HMA_Cu_ion-bd	Domain
IPR008250	ATPase_P-typ_transduc_dom_A_sf	Homologous_superfamily
IPR017969	Heavy-metal-associated_CS	Conserved_site
IPR018303	ATPase_P-typ_P_site	PTM
IPR023214	HAD_sf	Homologous_superfamily
IPR023298	ATPase_P-typ_TM_dom_sf	Homologous_superfamily
IPR023299	ATPase_P-typ_cyto_dom_N	Homologous_superfamily
IPR027256	P-typ_ATPase_IB	Family
IPR036163	HMA_dom_sf	Homologous_superfamily
IPR036412	HAD-like_sf	Homologous_superfamily
IPR044492	P_typ_ATPase_HD_dom	Domain
IPR059000	ATPase_P-type_domA	Domain

Pfam: PF00122, PF00403, PF00702

Enzyme classification (BRENDA):

• EC 7.2.2.8 — P-type Cu+ transporter (BRENDA: 25 organisms, 32 substrates, 20 inhibitors, 14 Km, 4 kcat entries)
• EC 7.2.2.9 — P-type Cu2+ transporter (BRENDA: 24 organisms, 135 substrates, 11 inhibitors, 11 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

5 substrates with measured Km, best-characterized 5. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
ATP	0.0009–2.02	10
ATP	0.11–0.5	5
CU+[SIDE 1]	0.0019–0.19	3
CU+	0.0004–0.0015	2
4-NITROPHENYL PHOSPHATE	9	1

Catalyzed reactions (Rhea), 1 shown:

• Cu(+)(in) + ATP + H2O = Cu(+)(out) + ADP + phosphate + H(+) (RHEA:25792)

UniProt features (499 total): sequence variant 300, strand 54, helix 51, turn 23, mutagenesis site 16, binding site 14, topological domain 9, transmembrane region 8, domain 6, splice variant 5, sequence conflict 4, modified residue 4, chain 2, region of interest 2, active site 1

Structure

Experimental structures (PDB)

13 structures.

PDB	Method	Resolution (Å)
6A71	X-RAY DIFFRACTION	1.6
6A72	X-RAY DIFFRACTION	2.1
7XUK	ELECTRON MICROSCOPY	3.3
7XUN	ELECTRON MICROSCOPY	3.4
7XUO	ELECTRON MICROSCOPY	3.6
7XUM	ELECTRON MICROSCOPY	3.8
8IOY	ELECTRON MICROSCOPY	4
2ARF	SOLUTION NMR
2EW9	SOLUTION NMR
2KOY	SOLUTION NMR
2LQB	SOLUTION NMR
2N7Y	SOLUTION NMR
2ROP	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P35670-F1	71.83	0.11

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 1027 (4-aspartylphosphate intermediate)

Ligand- & substrate-binding residues (14): 69; 72; 154; 157; 268; 271; 370; 373; 499; 502; 575; 578 …

Post-translational modifications (4): 23, 478, 481, 1398

Mutagenesis-validated functional residues (16):

Position	Phenotype
32	does not affect copper-induced relocalization.
37	altered copper-induced relocalization.
39	altered copper-induced relocalization.
39	does not affect copper-induced relocalization.
40	altered copper-induced relocalization.
41	altered copper-induced relocalization.
42	altered copper-induced relocalization.
42	does not affect copper-induced relocalization.
43	altered copper-induced relocalization.
44	does not affect copper-induced relocalization.
44	altered copper-induced relocalization.
45	altered copper-induced relocalization.
653	altered copper-induced relocalization.
1027	loss of copper transport activity.
1031	decreased copper transport activity with no effect on atpase activity.
1069	loss of atpase activity. cannot form an acylphosphate intermediate during catalysis. does not alter folding of the nucle

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-936837	Ion transport by P-type ATPases
R-HSA-382551	Transport of small molecules
R-HSA-983712	Ion channel transport

MSigDB gene sets: 379 (showing top): GOBP_TRANSITION_METAL_ION_TRANSPORT, MODULE_64, BROWNE_HCMV_INFECTION_16HR_UP, LUCAS_HNF4A_TARGETS_UP, GOBP_RESPONSE_TO_COPPER_ION, GOBP_COPPER_ION_TRANSPORT, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_RESPONSE_TO_METAL_ION, GOBP_PROTEIN_MATURATION, GOCC_TRANS_GOLGI_NETWORK, GOBP_MAINTENANCE_OF_LOCATION, GOBP_DETOXIFICATION, GOBP_SECRETION, GOBP_MAMMARY_GLAND_DEVELOPMENT, GOBP_MONOATOMIC_ION_HOMEOSTASIS

GO Biological Process (17): copper ion transport (GO:0006825), intracellular copper ion homeostasis (GO:0006878), intracellular zinc ion homeostasis (GO:0006882), lactation (GO:0007595), copper ion import (GO:0015677), monoatomic ion transmembrane transport (GO:0034220), response to copper ion (GO:0046688), obsolete sequestering of calcium ion (GO:0051208), protein maturation (GO:0051604), establishment of localization in cell (GO:0051649), copper ion export (GO:0060003), viral translational frameshifting (GO:0075523), xenobiotic detoxification by transmembrane export across the plasma membrane (GO:1990961), monoatomic ion transport (GO:0006811), monoatomic cation transport (GO:0006812), copper ion transmembrane transport (GO:0035434), monoatomic cation transmembrane transport (GO:0098655)

GO Molecular Function (11): copper ion transmembrane transporter activity (GO:0005375), copper ion binding (GO:0005507), ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), P-type divalent copper transporter activity (GO:0043682), P-type monovalent copper transporter activity (GO:0140581), nucleotide binding (GO:0000166), transporter activity (GO:0005215), protein binding (GO:0005515), ATPase-coupled monoatomic cation transmembrane transporter activity (GO:0019829), metal ion binding (GO:0046872)

GO Cellular Component (14): Golgi membrane (GO:0000139), mitochondrion (GO:0005739), late endosome (GO:0005770), Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), membrane (GO:0016020), trans-Golgi network membrane (GO:0032588), cytoplasm (GO:0005737), endosome (GO:0005768), trans-Golgi network (GO:0005802), endomembrane system (GO:0012505), basolateral plasma membrane (GO:0016323), cytoplasmic vesicle (GO:0031410), perinuclear region of cytoplasm (GO:0048471)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Ion channel transport	1
Transport of small molecules	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	4
cellular anatomical structure	4
intracellular monoatomic cation homeostasis	2
copper ion transport	2
monoatomic ion transport	2
copper ion transmembrane transport	2
copper ion transmembrane transporter activity	2
P-type ion transporter activity	2
ATPase-coupled monoatomic cation transmembrane transporter activity	2
intracellular membrane-bounded organelle	2
endomembrane system	2
transition metal ion transport	1
copper ion homeostasis	1
inorganic ion homeostasis	1
body fluid secretion	1
mammary gland development	1
milk ejection reflex	1
transmembrane transport	1
response to metal ion	1
gene expression	1
protein metabolic process	1
establishment of localization	1
cellular localization	1
viral process	1
viral translation	1
xenobiotic export from cell	1
detoxification	1
export across plasma membrane	1
transport	1
monoatomic cation transmembrane transport	1
monoatomic cation transport	1
monoatomic ion transmembrane transport	1
transition metal ion transmembrane transporter activity	1
transition metal ion binding	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
ribonucleoside triphosphate phosphatase activity	1
ATP-dependent activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1

Protein interactions and networks

STRING

2396 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ATP7B	ATOX1	O00244	981
ATP7B	CP	P00450	968
ATP7B	COMMD1	Q8N668	945
ATP7B	SLC31A1	O15431	938
ATP7B	SLC31A2	O15432	926
ATP7B	H3BSS0	H3BSS0	824
ATP7B	GLRX	P35754	784
ATP7B	ATP13A3	Q9H7F0	779
ATP7B	COX17	Q14061	773
ATP7B	SLC30A4	O14863	736
ATP7B	ATP4B	P51164	731
ATP7B	MT1A	P04731	699
ATP7B	CCS	O14618	690
ATP7B	PCDH9	Q9HC56	654
ATP7B	MT2A	P02795	604

IntAct

46 interactions, top by confidence:

A	B	Type	Score
COMMD1	ATP7B	psi-mi:“MI:0915”(physical association)	0.740
ATP7B	COMMD1	psi-mi:“MI:0915”(physical association)	0.740
COMMD1	ATP7B	psi-mi:“MI:0407”(direct interaction)	0.740
COMMD1	ATP7B	psi-mi:“MI:0403”(colocalization)	0.740
NIPAL1	ESYT2	psi-mi:“MI:0914”(association)	0.640
ATOX1	ATP7B	psi-mi:“MI:0915”(physical association)	0.540
ATOX1	ATP7B	psi-mi:“MI:0407”(direct interaction)	0.540
MANSC1	KLRG2	psi-mi:“MI:0914”(association)	0.530
PCDHGB1	FAM171A2	psi-mi:“MI:0914”(association)	0.530
ITM2A	NDUFB5	psi-mi:“MI:0914”(association)	0.530
	DENND11	psi-mi:“MI:0914”(association)	0.350
M	TM9SF1	psi-mi:“MI:0914”(association)	0.350
Npc1	ESYT2	psi-mi:“MI:0914”(association)	0.350
ATG16L1	ESYT2	psi-mi:“MI:0914”(association)	0.350
TTYH1	TMEM223	psi-mi:“MI:0914”(association)	0.350
CLEC2D	TMEM120B	psi-mi:“MI:0914”(association)	0.350
C5AR1	TCAF2	psi-mi:“MI:0914”(association)	0.350
CX3CL1	FAM171A2	psi-mi:“MI:0914”(association)	0.350
KCNMB3	UPK3BL1	psi-mi:“MI:0914”(association)	0.350
GRPR	GPR89A	psi-mi:“MI:0914”(association)	0.350
TMEM223	TNFRSF10B	psi-mi:“MI:0914”(association)	0.350
NRG1	CHST10	psi-mi:“MI:0914”(association)	0.350
FCER1A	STX6	psi-mi:“MI:0914”(association)	0.350

BioGRID (94): ATP7B (Affinity Capture-MS), ATP7B (Affinity Capture-MS), GLRX (Two-hybrid), ATP7B (Affinity Capture-Western), ATP7B (Affinity Capture-MS), ATP7B (Affinity Capture-MS), ATP7B (Affinity Capture-MS), ATP7B (Affinity Capture-MS), ATP7B (Affinity Capture-MS), ATP7B (Affinity Capture-MS), ATP7B (Affinity Capture-MS), ATP7B (Affinity Capture-MS), ATP7B (Proximity Label-MS), ATP7B (Affinity Capture-RNA), ATP7B (Affinity Capture-MS)

ESM2 similar proteins: A0A0P0X004, A1A4L5, A3AWA4, D3ZVK1, E1BPX4, I0IUP3, O81108, P32232, P35670, P49015, P70705, Q04656, Q07G10, Q0V9N0, Q0V9Q6, Q13057, Q2QMX9, Q37145, Q4VNC1, Q58H57, Q5F310, Q5XF90, Q64430, Q64446, Q64535, Q6GNY1, Q6H7M3, Q6PCN7, Q7X8B5, Q804S5, Q80SY4, Q80Y20, Q86YT6, Q8CGS6, Q8L5Z4, Q91WT9, Q95216, Q95K79, Q96BT7, Q9CWV1

Diamond homologs: A0A0P0X004, A0R3A7, A3AWA4, A5IVY3, A6QK47, A6U4T8, A7X6S1, A8YZ02, A8Z3F8, B2HEM2, B9DFX7, O08462, O29777, O30085, O31688, O32219, O32220, O32619, O33533, O59666, P05425, P07893, P0A503, P18398, P20021, P30336, P32113, P35670, P37279, P37385, P37617, P38360, P38995, P46839, P46840, P49015, P55989, P58341, P58342, P58414

SIGNOR signaling

5 interactions.

A	Effect	B	Mechanism
PRKD1	“up-regulates activity”	ATP7B	phosphorylation
ATP7B	“up-regulates quantity”	copper(1+)	relocalization

Disease & clinical

Cancer significance

Clinical variants and AI predictions

ClinVar

3682 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	326
Likely pathogenic	313
Uncertain significance	1258
Likely benign	1140
Benign	66

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1068802	NM_000053.4(ATP7B):c.3071_3072del (p.Val1024fs)	Pathogenic
1069463	NM_000053.4(ATP7B):c.2589del (p.Val864fs)	Pathogenic
1069714	NM_000053.4(ATP7B):c.2510del (p.Gly837fs)	Pathogenic
1069715	NM_000053.4(ATP7B):c.1746dup (p.Glu583fs)	Pathogenic
1069716	NM_000053.4(ATP7B):c.2447+5G>A	Pathogenic
1069926	NM_000053.4(ATP7B):c.3206A>G (p.His1069Arg)	Pathogenic
1071568	NM_000053.4(ATP7B):c.4374_4375del (p.Arg1459fs)	Pathogenic
1072000	NM_000053.4(ATP7B):c.1186G>T (p.Glu396Ter)	Pathogenic
1072277	NM_000053.4(ATP7B):c.2866-2A>C	Pathogenic
1073155	NM_000053.4(ATP7B):c.465_466insCCTGTGCA (p.Ser156fs)	Pathogenic
1073713	NM_000053.4(ATP7B):c.1107_1108dup (p.Cys370fs)	Pathogenic
1073826	NC_000013.10:g.(?_52548990)_52552030del	Pathogenic
1073995	NM_000053.4(ATP7B):c.92dup (p.Ala32fs)	Pathogenic
1075643	NM_000053.4(ATP7B):c.3140del (p.Asp1047fs)	Pathogenic
1162212	NM_000053.4(ATP7B):c.1705_1707+10del	Pathogenic
1162218	NM_000053.4(ATP7B):c.122del (p.Asn41fs)	Pathogenic
1162219	NM_000053.4(ATP7B):c.379del (p.Glu127fs)	Pathogenic
1162220	NM_000053.4(ATP7B):c.560_561del (p.Tyr187fs)	Pathogenic
1162221	NM_000053.4(ATP7B):c.1136del (p.Gly379fs)	Pathogenic
1162222	NM_000053.4(ATP7B):c.1286-2A>G	Pathogenic
1162223	NM_000053.4(ATP7B):c.1369C>T (p.Gln457Ter)	Pathogenic
1162226	NM_000053.4(ATP7B):c.2637_2650del (p.His880_Gly881insTer)	Pathogenic
1162231	NM_000053.4(ATP7B):c.3845dup (p.Ala1283fs)	Pathogenic
1162232	NM_000053.4(ATP7B):c.1242_1243del (p.Arg414fs)	Pathogenic
1163360	NM_000053.4(ATP7B):c.1677C>A (p.Tyr559Ter)	Pathogenic
1163545	NM_000053.4(ATP7B):c.3083_3085delinsC (p.Lys1028fs)	Pathogenic
1179167	GRCh37/hg19 13q14.3(chr13:52548050-52549324)	Pathogenic
1299711	NM_000053.4(ATP7B):c.52dup (p.Ile18fs)	Pathogenic
1323908	NM_000053.4(ATP7B):c.3334_3335del (p.Ile1112fs)	Pathogenic
1323954	NM_000053.4(ATP7B):c.3805dup (p.Val1269fs)	Pathogenic

SpliceAI

4106 predictions. Top by Δscore:

Variant	Effect	Δscore
13:51935592:CCA:C	donor_gain	1.0000
13:51937270:GCCTA:G	donor_loss	1.0000
13:51937271:CCTA:C	donor_loss	1.0000
13:51937272:CTACC:C	donor_loss	1.0000
13:51937273:TACC:T	donor_loss	1.0000
13:51937274:ACC:A	donor_loss	1.0000
13:51937275:C:G	donor_loss	1.0000
13:51937275:CCTG:C	donor_gain	1.0000
13:51937394:C:CC	acceptor_gain	1.0000
13:51937474:A:AC	donor_gain	1.0000
13:51937475:C:CT	donor_gain	1.0000
13:51937475:CT:C	donor_gain	1.0000
13:51937601:T:TA	donor_gain	1.0000
13:51937602:C:A	donor_gain	1.0000
13:51937675:CCAAC:C	acceptor_gain	1.0000
13:51937676:CAAC:C	acceptor_gain	1.0000
13:51937676:CAACC:C	acceptor_gain	1.0000
13:51939045:CTGTA:C	donor_loss	1.0000
13:51939046:TGTAC:T	donor_loss	1.0000
13:51939047:GTAC:G	donor_loss	1.0000
13:51939048:TAC:T	donor_loss	1.0000
13:51939049:ACCT:A	donor_loss	1.0000
13:51939194:CT:C	acceptor_loss	1.0000
13:51939195:T:G	acceptor_loss	1.0000
13:51942450:A:AC	donor_gain	1.0000
13:51942451:C:CC	donor_gain	1.0000
13:51942553:TC:T	acceptor_gain	1.0000
13:51942554:CC:C	acceptor_gain	1.0000
13:51942563:G:C	acceptor_gain	1.0000
13:51942563:G:GC	acceptor_gain	1.0000

AlphaMissense

9621 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
13:51935644:G:T	A1358D	0.999
13:51937279:C:G	A1340P	0.999
13:51937301:G:C	N1332K	0.999
13:51937301:G:T	N1332K	0.999
13:51937566:G:C	D1271E	0.999
13:51937566:G:T	D1271E	0.999
13:51937567:T:A	D1271V	0.999
13:51937567:T:G	D1271A	0.999
13:51937568:C:G	D1271H	0.999
13:51937583:C:A	G1266W	0.999
13:51939058:G:T	A1231D	0.999
13:51946360:A:T	V995D	0.999
13:51946363:G:T	A994D	0.999
13:51946375:G:T	A990D	0.999
13:51946378:A:G	L989P	0.999
13:51946396:C:T	C983Y	0.999
13:51946397:A:G	C983R	0.999
13:51946399:G:T	A982D	0.999
13:51950021:C:G	A906P	0.999
13:51950113:C:T	G875E	0.999
13:51957556:C:G	A803P	0.999
13:51957570:A:G	L798P	0.999
13:51957579:A:G	L795P	0.999
13:51958333:C:G	R778P	0.999
13:51958337:C:G	G777R	0.999
13:51958357:A:T	L770H	0.999
13:51958471:A:T	L732H	0.999
13:51935636:C:G	A1361P	0.998
13:51935639:C:G	A1360P	0.998
13:51935640:C:A	M1359I	0.998

dbSNP variants (sampled 300 via entrez): RS1000013230 (13:51991421 G>T), RS1000017968 (13:51955544 G>A), RS1000031518 (13:51949559 T>C), RS1000076187 (13:51949571 G>A), RS1000088261 (13:51992728 A>G), RS1000238450 (13:52003307 T>G), RS1000284005 (13:51934038 A>T), RS1000320202 (13:51955358 G>A,T), RS1000471385 (13:51955390 C>A,T), RS1000495665 (13:51990941 A>T), RS1000542667 (13:51986002 A>T), RS1000561251 (13:51992218 C>T), RS1000564139 (13:51968243 GACTGTTTA>G), RS1000565729 (13:51933222 A>C,G), RS1000575169 (13:51985741 T>C)

Disease associations

OMIM: gene MIM:606882 | disease phenotypes: MIM:277900, MIM:620442, MIM:277990, MIM:108600, MIM:614081, MIM:618013, MIM:618012, MIM:613661

GenCC curated gene-disease

Disease	Classification	Inheritance
Wilson disease	Definitive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
Wilson disease	Definitive	AR

Mondo (8): Wilson disease (MONDO:0010200), breast-ovarian cancer, familial, susceptibility to, 5 (MONDO:0957530), intellectual disability, Wolff type (MONDO:0010203), spastic ataxia (MONDO:0017845), anhaptoglobinemia (MONDO:0013564), hearing loss, autosomal recessive 109 (MONDO:0033202), developmental and epileptic encephalopathy 93 (MONDO:0020632), ALG11-congenital disorder of glycosylation (MONDO:0013349)

Orphanet (4): Wilson disease (Orphanet:905), Intellectual disability, Wolff type (Orphanet:3080), Spastic ataxia (Orphanet:316226), ALG11-CDG (Orphanet:280071)

HPO phenotypes

106 total (30 of 106 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000093	Proteinuria
HP:0000124	Renal tubular dysfunction
HP:0000140	Abnormality of the menstrual cycle
HP:0000709	Psychosis
HP:0000716	Depression
HP:0000718	Aggressive behavior
HP:0000726	Dementia
HP:0000738	Hallucinations
HP:0000739	Anxiety
HP:0000751	Personality changes
HP:0000762	Decreased nerve conduction velocity
HP:0000787	Nephrolithiasis
HP:0000789	Infertility
HP:0000829	Hypoparathyroidism
HP:0000934	Chondrocalcinosis
HP:0000939	Osteoporosis
HP:0000952	Jaundice
HP:0000969	Edema
HP:0000978	Bruising susceptibility
HP:0000989	Pruritus
HP:0001155	Abnormality of the hand
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001259	Coma
HP:0001260	Dysarthria
HP:0001271	Polyneuropathy
HP:0001288	Gait disturbance
HP:0001332	Dystonia
HP:0001337	Tremor

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST005686_4	Clostridium difficile infection in multiple myeloma	4.000000e-08
GCST008161_79	Waist circumference adjusted for body mass index	2.000000e-06
GCST90002397_61	Mean spheric corpuscular volume	6.000000e-12

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0009130	clostridium difficile infection
EFO:0007789	BMI-adjusted waist circumference

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D006527	Hepatolenticular Degeneration	C06.552.413; C10.228.140.079.493; C10.228.140.163.100.360; C10.228.662.400; C10.574.500.487; C16.320.400.361; C16.320.565.189.360; C16.320.565.618.403; C18.452.132.100.360; C18.452.648.189.360; C18.452.648.618.403
C537448	Mental retardation Wolff type (supp.)
C564815	Spastic Ataxia (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB clinical annotations

4 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs1061472	Toxicity	3	carboplatin;taxanes	Ovarian Neoplasms
rs1801249	Toxicity	3	carboplatin;taxanes	Ovarian Neoplasms
rs9535826	Efficacy	3	Platinum compounds	Lung Neoplasms
rs9535828	Efficacy	3	Platinum compounds	Lung Neoplasms

PharmGKB variants

5 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs1061472	ATP7B	3	3.00	1	carboplatin;taxanes
rs1801249	ATP7B	3	3.00	1	carboplatin;taxanes
rs7999812	ATP7B		0.00	0
rs9535826	ATP7B	3	2.50	1	Platinum compounds
rs9535828	ATP7B	3	2.00	1	Platinum compounds

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: transporter — P1B P-type ATPases: Cu⁺-ATPases

CTD chemical–gene interactions

77 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Copper	increases expression, decreases abundance, increases uptake, decreases phosphorylation, increases stability (+16 more)	26
Cisplatin	increases metabolic processing, increases secretion, decreases expression, affects response to substance, affects binding (+4 more)	6
cupric chloride	decreases response to substance, increases abundance, increases uptake, affects localization, affects binding (+1 more)	5
Benzo(a)pyrene	affects methylation, decreases expression, increases methylation	3
Copper Sulfate	decreases response to substance, decreases expression, increases expression	3
sodium arsenite	affects cotreatment, increases abundance, increases expression, affects methylation	2
cupric oxide	affects localization, increases expression	2
Adenosine Triphosphate	increases phosphorylation, affects cotreatment	2
Hydrogen Peroxide	affects expression, affects binding, increases reaction	2
Penicillamine	decreases reaction, decreases expression, affects cotreatment, decreases activity, affects binding (+2 more)	2
Phenylmercuric Acetate	increases expression, affects cotreatment	2
Tobacco Smoke Pollution	affects expression, decreases expression	2
Valproic Acid	decreases methylation, increases expression	2
Cyclosporine	decreases expression	2
Aflatoxin B1	affects expression, decreases methylation	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
bufotalin	decreases expression	1
methylmercuric chloride	decreases expression	1
bisphenol A	increases methylation	1
zinc chloride	decreases expression, increases expression	1
tetrathiomolybdate	decreases expression	1
benzo(e)pyrene	increases methylation	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
protoporphyrin IX	decreases abundance, increases reaction, decreases chemical synthesis	1
bathocuproine sulfonate	affects cotreatment, increases reaction, affects binding	1
aflatoxin B2	increases methylation	1
epigallocatechin gallate	decreases expression, affects cotreatment	1
bicinchoninic acid	decreases phosphorylation, decreases reaction	1
benzyloxycarbonylleucyl-leucyl-leucine aldehyde	decreases degradation	1

Cellosaurus cell lines

21 cell lines: 13 induced pluripotent stem cell, 3 finite cell line, 3 transformed cell line, 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_0P48	GM05257	Finite cell line	Female
CVCL_0P49	GM05258	Transformed cell line	Female
CVCL_0P50	GM05259	Finite cell line	Female
CVCL_0P51	GM05260	Transformed cell line	Female
CVCL_0P61	GM05761	Transformed cell line	Female
CVCL_0P62	GM05762	Finite cell line	Female
CVCL_A0VT	ICGi030-A	Induced pluripotent stem cell	Male
CVCL_A1VW	AKOSi008-A	Induced pluripotent stem cell	Female
CVCL_A1XC	THSJTUi001-A	Induced pluripotent stem cell	Male
CVCL_B3SJ	SMBCi013-A	Induced pluripotent stem cell	Male

Clinical trials (associated diseases)

69 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00004338	PHASE4	COMPLETED	Study of Zinc for Wilson Disease
NCT02426905	PHASE4	UNKNOWN	Study to Assess Long-Term Outcomes of Trientine in Wilson Disease Patients Withdrawn From Therapy With d-Penicillamine
NCT05305872	PHASE4	UNKNOWN	Gandouling in the Treatment of Wilson’s Disease
NCT00004339	PHASE3	COMPLETED	Study of Tetrathiomolybdate in Patients With Wilson Disease
NCT00212355	PHASE3	COMPLETED	Efficacy and Safety, Long-term Study of Zinc Acetate to Treat Wilson’s Disease in Japan.
NCT03403205	PHASE3	TERMINATED	Efficacy and Safety of ALXN1840 Administered for 48 Weeks Versus Standard of Care in Participants With Wilson Disease
NCT03539952	PHASE3	COMPLETED	Trientine Tetrahydrochloride (TETA 4HCL) for the Treatment of Wilson’s Disease
NCT05047523	PHASE3	TERMINATED	Study of ALXN1840 Versus Standard of Care in Pediatric Participants With Wilson Disease
NCT07465718	PHASE3	NOT_YET_RECRUITING	Trientine Tetrahydrochloride Administered Once a Day for the First Line Treatment of Wilson’s Disease Patients.
NCT02273596	PHASE2	COMPLETED	Efficacy and Safety Study of WTX101 (ALXN1840) in Adult Wilson Disease Patients
NCT04422431	PHASE2	COMPLETED	Copper Concentration & Histopathologic Changes in Liver Biopsy in Participants With Wilson Disease Treated With ALXN1840
NCT04573309	PHASE2	COMPLETED	Copper and Molybdenum Balance in Participants With Wilson Disease Treated With ALXN1840
NCT07010575	PHASE2	COMPLETED	Patient Preference Study: Standard of Care Versus Once-daily Trientine Tetrahydrochloride
NCT01874028	PHASE1	COMPLETED	A Phase 1 Study to Assess the Effects in the Body of a Single Dose of Trientine Dihydrochloride in Wilson’s Disease Patients
NCT04526197	PHASE1	COMPLETED	Phase 1 Study of ALXN1840 on the Metabolism of a CYP2C9 Substrate in Healthy Participants.
NCT04526210	PHASE1	COMPLETED	Study of ALXN1840 on the Metabolism of a CYP2B6 Substrate in Healthy Participants
NCT05641311	PHASE1	COMPLETED	Pharmacokinetic Study of Oral ALXN1840 in Japanese and Non-Japanese Adult Healthy Participants
NCT06128954	PHASE1	COMPLETED	Study Comparing Once Daily Dose of 900mg of TETA 4HCL Against Cuprior® (450mg Trientine Base, Twice Daily).
NCT04537377	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	A Phase I/II Study of VTX-801 in Adult Patients With Wilson’s Disease
NCT04884815	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	A Phase 1/2/3 Study of UX701 Gene Therapy in Adults With Wilson Disease
NCT07173933	PHASE1/PHASE2	NOT_YET_RECRUITING	Phase I/II Clinical Study to Evaluate the Safety, Tolerability, and Efficacy of GC310 Injection in Patients With Wilson’s Disease (WD)
NCT03957720	EARLY_PHASE1	UNKNOWN	The Individual Therapy for Patients With Wilson’s Disease
NCT06650319	EARLY_PHASE1	RECRUITING	A Clinical Study to Evaluate the Safety and Efficacy of LY-M003 Injection in Patients With Wilson Disease
NCT01378182	Not specified	COMPLETED	Efficacy of Invitro Expanded Bone Marrow Derived Allogeneic Mesenchymal Stem Cell Transplantation Via Portal Vein or Hepatic Artery or Peripheral Vein in Patients With Wilson Cirrhosis
NCT01472874	Not specified	COMPLETED	Single Daily Dosage of Trientine for Maintenance Treatment for Wilson Disease
NCT01980433	Not specified	COMPLETED	Inhibitory rTMS in Dystonic Wilson Patients
NCT02252380	Not specified	ACTIVE_NOT_RECRUITING	ExAblate Transcranial MRgFUS for the Management of Treatment-Refractory Movement Disorders
NCT02552628	Not specified	COMPLETED	WILSTIM - DBS (WILson STIMulation - Deep Brain Stimulation)
NCT02763215	Not specified	COMPLETED	The Assessment of Copper Parameters in Wilson Disease Participants on Standard of Care Treatment
NCT03334292	Not specified	RECRUITING	Natural History of Wilson Disease
NCT03589820	Not specified	UNKNOWN	Plasma Exchange and Continuous Hemodiafiltration in Treatment of Wilson’s Disease-related Liver Failure
NCT03655223	Not specified	ENROLLING_BY_INVITATION	Early Check: Expanded Screening in Newborns
NCT03659331	Not specified	UNKNOWN	A Controlled Study of Potential Therapeutic Effect of Oral Zinc in Manifesting Carriers of Wilson Disease
NCT03867526	Not specified	COMPLETED	Establishment of Human Cellular Disease Models for Wilson Disease
NCT04012658	Not specified	RECRUITING	A Registered Cohort Study on Wilson’s Disease
NCT04212195	Not specified	UNKNOWN	Cohort Research on Wilson’s Disease
NCT04408300	Not specified	COMPLETED	Study of Retinal Vascular Parameters in Patients With Wilson’s Disease
NCT04531189	Not specified	COMPLETED	Clinical Evaluation and Assessment of Instruments and Biomarkers in Subjects With Wilson Disease
NCT04909346	Not specified	TERMINATED	Adeno-Associated Virus (AAV) Antibody Study in Subjects OTC Deficiency, GSDIa, and Wilson Disease
NCT04910581	Not specified	COMPLETED	rTMS in Wilson Disease Dysarthria