ATPase copper transporting beta (ATP7B) Associated conditions: 1. Wilson disease
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_001406539.1 | NP_001393468.1 | NC_000013.11 | (51932668..52012131, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 2 | REVIEWED | NM_001406527.1 | NP_001393456.1 | NC_000013.11 | (51932668..52012131, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 3 | REVIEWED | NM_001406528.1 | NP_001393457.1 | NC_000013.11 | (51932668..52012131, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 4 | REVIEWED | NM_001406530.1 | NP_001393459.1 | NC_000013.11 | (51932668..52012131, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 5 | REVIEWED | NM_001406531.1 | NP_001393460.1 | NC_000013.11 | (51932668..52012131, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 6 | REVIEWED | NM_001406532.1 | NP_001393461.1 | NC_000013.11 | (51932668..52012131, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 7 | REVIEWED | NM_001406534.1 | NP_001393463.1 | NC_000013.11 | (51932668..52012131, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 8 | REVIEWED | NM_001406535.1 | NP_001393464.1 | NC_000013.11 | (51932668..52012131, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 9 | REVIEWED | NM_001406536.1 | NP_001393465.1 | NC_000013.11 | (51932668..52012131, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 10 | REVIEWED | NM_001406537.1 | NP_001393466.1 | NC_000013.11 | (51932668..52012131, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 11 | REVIEWED | NM_001406538.1 | NP_001393467.1 | NC_000013.11 | (51932668..52012131, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 12 | REVIEWED | NM_001406526.1 | NP_001393455.1 | NC_000013.11 | (51932668..52012131, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 13 | REVIEWED | NM_001406540.1 | NP_001393469.1 | NC_000013.11 | (51932668..52012131, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 14 | REVIEWED | NM_001406541.1 | NP_001393470.1 | NC_000013.11 | (51932668..52012131, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 15 | REVIEWED | NM_001406542.1 | NP_001393471.1 | NC_000013.11 | (51932668..52012131, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 16 | REVIEWED | NM_001406543.1 | NP_001393472.1 | NC_000013.11 | (51932668..52012131, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 17 | REVIEWED | NM_001406544.1 | NP_001393473.1 | NC_000013.11 | (51932668..52012131, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 18 | REVIEWED | NM_001406545.1 | NP_001393474.1 | NC_000013.11 | (51932668..52012131, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 19 | REVIEWED | NM_001406546.1 | NP_001393475.1 | NC_000013.11 | (51932668..52012131, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 20 | REVIEWED | NM_001406547.1 | NP_001393476.1 | NC_000013.11 | (51932668..52012131, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 21 | REVIEWED | NM_001406548.1 | NP_001393477.1 | NC_000013.11 | (51932668..52012131, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 22 | REVIEWED | NM_001406516.1 | NP_001393445.1 | NC_000013.11 | (51932668..52012131, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 23 | REVIEWED | NM_001005918.3 | NP_001005918.1 | NC_000013.11 | (51932668..52012131, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 24 | REVIEWED | NM_001243182.2 | NP_001230111.1 | NC_000013.11 | (51932668..52012131, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 25 | REVIEWED | NM_001330578.2 | NP_001317507.1 | NC_000013.11 | (51932668..52012131, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 26 | REVIEWED | NM_001330579.2 | NP_001317508.1 | NC_000013.11 | (51932668..52012131, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 27 | REVIEWED | NM_001406511.1 | NP_001393440.1 | NC_000013.11 | (51932668..52012131, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 28 | REVIEWED | NM_001406512.1 | NP_001393441.1 | NC_000013.11 | (51932668..52012131, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 29 | REVIEWED | NM_001406513.1 | NP_001393442.1 | NC_000013.11 | (51932668..52012131, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 30 | REVIEWED | NM_001406514.1 | NP_001393443.1 | NC_000013.11 | (51932668..52012131, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 31 | REVIEWED | NM_001406515.1 | NP_001393444.1 | NC_000013.11 | (51932668..52012131, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 32 | REVIEWED | NM_000053.4 | NP_000044.2 | NC_000013.11 | (51932668..52012131, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 33 | REVIEWED | NM_001406517.1 | NP_001393446.1 | NC_000013.11 | (51932668..52012131, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 34 | REVIEWED | NM_001406518.1 | NP_001393447.1 | NC_000013.11 | (51932668..52012131, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 35 | REVIEWED | NM_001406519.1 | NP_001393448.1 | NC_000013.11 | (51932668..52012131, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 36 | REVIEWED | NM_001406520.1 | NP_001393449.1 | NC_000013.11 | (51932668..52012131, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 37 | REVIEWED | NM_001406521.1 | NP_001393450.1 | NC_000013.11 | (51932668..52012131, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 38 | REVIEWED | NM_001406522.1 | NP_001393451.1 | NC_000013.11 | (51932668..52012131, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 39 | REVIEWED | NM_001406523.1 | NP_001393452.1 | NC_000013.11 | (51932668..52012131, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 40 | REVIEWED | NM_001406524.1 | NP_001393453.1 | NC_000013.11 | (51932668..52012131, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 41 | REVIEWED | NM_001406525.1 | NP_001393454.1 | NC_000013.11 | (51932668..52012131, complement) | Reference GRCh38.p14 Primary Assembly | - |
Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.
Variant Information ATPase copper transporting beta (ATP7B) Mutation Visualization Dashboard: Pathogenic variant distribution chart
IndiGenomes variants: Exploring and mapping pathogenic variants in gene ATPase copper transporting beta (ATP7B)
ClinVar variants:Revealing mutagenic patterns
| SNo. | Reported in speceis | Evidence | Qualifier | GO term | Category | Pubmed Link |
| 1 | Homo sapiens | IEA | located_in | Golgi membrane | Component | - |
| 2 | Homo sapiens | TAS | located_in | Golgi membrane | Component | - |
| 3 | Homo sapiens | IEA | enables | nucleotide binding | Function | - |
| 4 | Homo sapiens | IDA | enables | copper ion transmembrane transporter activity | Function | 26004889 |
| 5 | Homo sapiens | IEA | enables | copper ion transmembrane transporter activity | Function | - |
| 6 | Homo sapiens | IBA | enables | copper ion binding | Function | - |
| 7 | Homo sapiens | IDA | enables | copper ion binding | Function | 12029094 14709553 |
| 8 | Homo sapiens | IEA | enables | copper ion binding | Function | - |
| 9 | Homo sapiens | IPI | enables | protein binding | Function | 12968035 16554302 16676348 16884690 17919502 |
| 10 | Homo sapiens | IDA | enables | ATP binding | Function | 15205462 16567646 |
| 11 | Homo sapiens | IEA | enables | ATP binding | Function | - |
| 12 | Homo sapiens | IEA | located_in | cytoplasm | Component | - |
| 13 | Homo sapiens | HTP | located_in | mitochondrion | Component | 34800366 |
| 14 | Homo sapiens | IEA | located_in | mitochondrion | Component | - |
| 15 | Homo sapiens | IDA | located_in | late endosome | Component | 15681833 |
| 16 | Homo sapiens | IEA | located_in | late endosome | Component | - |
| 17 | Homo sapiens | IDA | located_in | Golgi apparatus | Component | - |
| 18 | Homo sapiens | IEA | located_in | Golgi apparatus | Component | - |
| 19 | Homo sapiens | IDA | colocalizes_with | trans-Golgi network | Component | 15269005 16472602 |
| 20 | Homo sapiens | IEA | located_in | trans-Golgi network | Component | - |
| 21 | Homo sapiens | IBA | is_active_in | plasma membrane | Component | - |
| 22 | Homo sapiens | TAS | located_in | plasma membrane | Component | 8298641 |
| 23 | Homo sapiens | IEA | involved_in | monoatomic ion transport | Process | - |
| 24 | Homo sapiens | IEA | involved_in | monoatomic cation transport | Process | - |
| 25 | Homo sapiens | IDA | involved_in | copper ion transport | Process | 26004889 |
| 26 | Homo sapiens | IEA | involved_in | copper ion transport | Process | - |
| 27 | Homo sapiens | IGI | involved_in | copper ion transport | Process | 12572677 26004889 |
| 28 | Homo sapiens | IMP | involved_in | copper ion transport | Process | 9837819 |
| 29 | Homo sapiens | IBA | involved_in | intracellular copper ion homeostasis | Process | - |
| 30 | Homo sapiens | TAS | involved_in | intracellular copper ion homeostasis | Process | 16554302 |
| 31 | Homo sapiens | IBA | involved_in | copper ion import | Process | - |
| 32 | Homo sapiens | IDA | involved_in | copper ion import | Process | 16472602 |
| 33 | Homo sapiens | HDA | located_in | membrane | Component | 19946888 |
| 34 | Homo sapiens | IEA | located_in | membrane | Component | - |
| 35 | Homo sapiens | IDA | colocalizes_with | basolateral plasma membrane | Component | 15269005 |
| 36 | Homo sapiens | IEA | enables | ATP hydrolysis activity | Function | - |
| 37 | Homo sapiens | IEA | enables | ATPase-coupled monoatomic cation transmembrane transporter activity | Function | - |
| 38 | Homo sapiens | IDA | colocalizes_with | cytoplasmic vesicle | Component | 16472602 |
| 39 | Homo sapiens | IDA | located_in | trans-Golgi network membrane | Component | 9837819 |
| 40 | Homo sapiens | IEA | located_in | trans-Golgi network membrane | Component | - |
| 41 | Homo sapiens | TAS | involved_in | monoatomic ion transmembrane transport | Process | - |
| 42 | Homo sapiens | IDA | involved_in | response to copper ion | Process | 15269005 16472602 16939419 |
| 43 | Homo sapiens | IEA | involved_in | response to copper ion | Process | - |
| 44 | Homo sapiens | IEA | enables | metal ion binding | Function | - |
| 45 | Homo sapiens | IDA | colocalizes_with | perinuclear region of cytoplasm | Component | 16939419 |
| 46 | Homo sapiens | IBA | involved_in | copper ion export | Process | - |
| 47 | Homo sapiens | IEA | involved_in | viral translational frameshifting | Process | - |
| 48 | Homo sapiens | IBA | enables | P-type monovalent copper transporter activity | Function | - |
| 49 | Homo sapiens | IEA | enables | P-type monovalent copper transporter activity | Function | - |
| 50 | Homo sapiens | IMP | enables | P-type monovalent copper transporter activity | Function | 9837819 |
| 51 | Homo sapiens | NAS | enables | P-type monovalent copper transporter activity | Function | 12763797 |
| 52 | Homo sapiens | TAS | enables | P-type monovalent copper transporter activity | Function | 16472602 |
| 53 | Homo sapiens | IC | involved_in | xenobiotic detoxification by transmembrane export across the plasma membrane | Process | 9837819 |