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Figure 2 | BMC Genomics

Figure 2

From: Annotating the human genome with Disease Ontology

Figure 2

Example Gene Annotation by DO, OMIM and GO. ATP7B ATPase, Cu++ transporting, beta polypeptide. GeneID: 540. 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). DOID. Breast Carcinoma, Carcinoma, Congenital Abnormality, Disorder of copper metabolism, Esophageal carcinoma, Hepatolenticular Degeneration, Liver diseases, Malignant neoplasm of ovary, Primary carcinoma of the liver cells, Stomach Carcinoma. OMIM. Wilson disease. GO. ATP binding, ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism, Component, Golgi apparatus, Process, cellular copper ion homeostasis, cellular zinc ion homeostasis, colocalizes_with basolateral plasma membrane, colocalizes_with cytoplasmic membrane-bounded vesicle, colocalizes_with perinuclear region of cytoplasm, colocalizes_with trans-Golgi network, copper ion binding, copper ion import, copper ion transmembrane transporter activity, copper ion transport, copper-exporting ATPase activity, cytoplasm, hydrolase activity, hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances, integral to membrane, integral to plasma membrane, intracellular copper ion transport, ion transport, lactation, late endosome, magnesium ion binding, membrane, membrane fraction, metabolic process, metal ion binding, metal ion transmembrane transporter activity, metal ion transport, mitochondrion, nucleotide binding, protein binding, response to copper ion, sequestering of calcium ion, transport. An example gene annotation is provided for ATP7B. The gene description, DOID, OMIM, and GO annotation descriptions are provided.

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