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MAMMALIAN PHENOTYPE - ANNOTATIONS

The Mouse Adult Gross Anatomy Ontology and Mammalian Phenotype Ontology are downloaded weekly from the Mouse Genome Informatics databases at Jackson Laboratories (ftp://ftp.informatics.jax.org/pub/reports/index.html). For more information about these ontologies, see the MGI Publications Page at http://www.informatics.jax.org/mgihome/other/publications.shtml.
Term:abnormal copper homeostasis
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Accession:MP:0003951 term browser browse the term
Definition:anomaly in the processes involved in the maintenance of an internal equilibrium of copper that is a cofactor in a number of proteins including amine oxidases and chaperone proteins


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abnormal copper homeostasis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atox1 antioxidant 1 copper chaperone IAGP MGI PMID:11391006 NCBI chr11:55,337,463...55,352,034
Ensembl chr11:55,337,467...55,352,065 		JBrowse link
G Atp7a ATPase, Cu++ transporting, alpha polypeptide IAGP MGI PMID:6685755 NCBI chr  X:105,070,830...105,171,766
Ensembl chr  X:105,070,882...105,168,532 		JBrowse link
G Ccs copper chaperone for superoxide dismutase IAGP MGI PMID:10694572 NCBI chr19:4,875,394...4,889,326
Ensembl chr19:4,875,394...4,889,360 		JBrowse link
abnormal copper level term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase, Cu++ transporting, alpha polypeptide IAGP MGI PMID:16338116 PMID:20831904 PMID:25639447 PMID:27293072 NCBI chr  X:105,070,830...105,171,766
Ensembl chr  X:105,070,882...105,168,532 		JBrowse link
G Atp7b ATPase, Cu++ transporting, beta polypeptide IAGP MGI PMID:8040371 PMID:10441329 PMID:14617772 NCBI chr 8:22,482,799...22,550,347
Ensembl chr 8:22,482,801...22,550,321 		JBrowse link
G Mnx1 motor neuron and pancreas homeobox 1 IAGP MGI PMID:25639447 NCBI chr 5:29,678,821...29,683,468
Ensembl chr 5:29,678,032...29,683,468 		JBrowse link
G Prnp prion protein IAGP MGI PMID:16517717 NCBI chr 2:131,751,848...131,780,356
Ensembl chr 2:131,751,848...131,780,349 		JBrowse link
G Sco2 SCO2 cytochrome c oxidase assembly protein IAGP MGI PMID:19837698 NCBI chr15:89,255,833...89,258,094
Ensembl chr15:89,255,840...89,258,049 		JBrowse link
G Slc31a1 solute carrier family 31, member 1 IAGP MGI PMID:11391005 PMID:16950140 NCBI chr 4:62,278,821...62,310,006
Ensembl chr 4:62,278,964...62,310,006 		JBrowse link
G Slc39a4 solute carrier family 39 (zinc transporter), member 4 IAGP MGI PMID:22737083 NCBI chr15:76,496,583...76,501,579
Ensembl chr15:76,496,583...76,501,584 		JBrowse link
G Slc48a1 solute carrier family 48 (heme transporter), member 1 IAGP MGI PMID:31571584 NCBI chr15:97,682,246...97,690,573
Ensembl chr15:97,676,401...97,690,573 		JBrowse link
abnormal liver copper level term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase, Cu++ transporting, alpha polypeptide IAGP MGI PMID:4858102 NCBI chr  X:105,070,830...105,171,766
Ensembl chr  X:105,070,882...105,168,532 		JBrowse link
G Atp7b ATPase, Cu++ transporting, beta polypeptide IAGP MGI PMID:10441329 NCBI chr 8:22,482,799...22,550,347
Ensembl chr 8:22,482,801...22,550,321 		JBrowse link
G Cp ceruloplasmin IAGP MGI PMID:11461924 NCBI chr 3:20,011,097...20,063,914
Ensembl chr 3:20,011,218...20,063,309 		JBrowse link
G Slc31a1 solute carrier family 31, member 1 IAGP MGI PMID:16950140 NCBI chr 4:62,278,821...62,310,006
Ensembl chr 4:62,278,964...62,310,006 		JBrowse link
decreased brain copper level term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atox1 antioxidant 1 copper chaperone IAGP MGI PMID:11391006 NCBI chr11:55,337,463...55,352,034
Ensembl chr11:55,337,467...55,352,065 		JBrowse link
G Atp7a ATPase, Cu++ transporting, alpha polypeptide IAGP MGI PMID:4858102 PMID:6685755 PMID:16338116 PMID:20831904 PMID:22869751 More... NCBI chr  X:105,070,830...105,171,766
Ensembl chr  X:105,070,882...105,168,532 		JBrowse link
G Prnp prion protein IAGP MGI PMID:14511115 NCBI chr 2:131,751,848...131,780,356
Ensembl chr 2:131,751,848...131,780,349 		JBrowse link
G Slc31a1 solute carrier family 31, member 1 IAGP MGI PMID:11391004 NCBI chr 4:62,278,821...62,310,006
Ensembl chr 4:62,278,964...62,310,006 		JBrowse link
decreased brainstem copper level term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase, Cu++ transporting, alpha polypeptide IEA MGI NCBI chr  X:105,070,830...105,171,766
Ensembl chr  X:105,070,882...105,168,532 		JBrowse link
decreased circulating copper level term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase, Cu++ transporting, alpha polypeptide IAGP MGI PMID:4858102 NCBI chr  X:105,070,830...105,171,766
Ensembl chr  X:105,070,882...105,168,532 		JBrowse link
G Atp7b ATPase, Cu++ transporting, beta polypeptide IAGP MGI PMID:6863890 NCBI chr 8:22,482,799...22,550,347
Ensembl chr 8:22,482,801...22,550,321 		JBrowse link
G Slc31a1 solute carrier family 31, member 1 IAGP MGI PMID:16950140 NCBI chr 4:62,278,821...62,310,006
Ensembl chr 4:62,278,964...62,310,006 		JBrowse link
G Steap3 STEAP family member 3 IAGP MGI PMID:18955558 NCBI chr 1:120,154,137...120,198,810
Ensembl chr 1:120,118,487...120,200,435 		JBrowse link
decreased intestine copper level term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc39a4 solute carrier family 39 (zinc transporter), member 4 IAGP MGI PMID:22737083 NCBI chr15:76,496,583...76,501,579
Ensembl chr15:76,496,583...76,501,584 		JBrowse link
decreased kidney copper level term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sco1 SCO1 cytochrome c oxidase assembly protein IAGP MGI PMID:25683716 NCBI chr11:66,943,473...66,958,270
Ensembl chr11:66,943,496...66,957,896 		JBrowse link
G Speer6-ps1 spermatogenesis associated glutamate (E)-rich protein 6, pseudogene 1 IAGP MGI PMID:25683716 NCBI chr13:3,199,475...3,239,678
Ensembl chr13:3,236,206...3,239,317
Ensembl chr13:3,236,206...3,239,317 		JBrowse link
decreased liver copper level term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atox1 antioxidant 1 copper chaperone IAGP MGI PMID:11391006 NCBI chr11:55,337,463...55,352,034
Ensembl chr11:55,337,467...55,352,065 		JBrowse link
G Atp7a ATPase, Cu++ transporting, alpha polypeptide IAGP MGI PMID:1819648 PMID:6685755 PMID:8640230 PMID:20831904 NCBI chr  X:105,070,830...105,171,766
Ensembl chr  X:105,070,882...105,168,532 		JBrowse link
G Atp7b ATPase, Cu++ transporting, beta polypeptide IAGP MGI PMID:6863890 NCBI chr 8:22,482,799...22,550,347
Ensembl chr 8:22,482,801...22,550,321 		JBrowse link
G Sco1 SCO1 cytochrome c oxidase assembly protein IAGP MGI PMID:25683716 NCBI chr11:66,943,473...66,958,270
Ensembl chr11:66,943,496...66,957,896 		JBrowse link
G Slc39a4 solute carrier family 39 (zinc transporter), member 4 IAGP MGI PMID:22737083 NCBI chr15:76,496,583...76,501,579
Ensembl chr15:76,496,583...76,501,584 		JBrowse link
G Speer6-ps1 spermatogenesis associated glutamate (E)-rich protein 6, pseudogene 1 IAGP MGI PMID:25683716 NCBI chr13:3,199,475...3,239,678
Ensembl chr13:3,236,206...3,239,317
Ensembl chr13:3,236,206...3,239,317 		JBrowse link
increased brain copper level term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase, Cu++ transporting, alpha polypeptide IAGP MGI PMID:27293072 NCBI chr  X:105,070,830...105,171,766
Ensembl chr  X:105,070,882...105,168,532 		JBrowse link
G Atp7b ATPase, Cu++ transporting, beta polypeptide IAGP MGI PMID:8040371 PMID:14617772 NCBI chr 8:22,482,799...22,550,347
Ensembl chr 8:22,482,801...22,550,321 		JBrowse link
G Prnp prion protein IAGP MGI PMID:14511115 NCBI chr 2:131,751,848...131,780,356
Ensembl chr 2:131,751,848...131,780,349 		JBrowse link
increased circulating copper level term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7b ATPase, Cu++ transporting, beta polypeptide IAGP MGI PMID:8040371 NCBI chr 8:22,482,799...22,550,347
Ensembl chr 8:22,482,801...22,550,321 		JBrowse link
G Slc30a10 solute carrier family 30, member 10 IAGP MGI PMID:28461334 NCBI chr 1:185,187,045...185,200,959
Ensembl chr 1:185,187,045...185,200,959 		JBrowse link
increased intestine copper level term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase, Cu++ transporting, alpha polypeptide IAGP MGI PMID:4858102 PMID:6685755 PMID:7333461 PMID:8640230 NCBI chr  X:105,070,830...105,171,766
Ensembl chr  X:105,070,882...105,168,532 		JBrowse link
increased kidney copper level term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase, Cu++ transporting, alpha polypeptide IAGP MGI PMID:6685755 PMID:11534785 PMID:20831904 NCBI chr  X:105,070,830...105,171,766
Ensembl chr  X:105,070,882...105,168,532 		JBrowse link
G Atp7b ATPase, Cu++ transporting, beta polypeptide IAGP MGI PMID:8040371 NCBI chr 8:22,482,799...22,550,347
Ensembl chr 8:22,482,801...22,550,321 		JBrowse link
increased liver copper level term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7b ATPase, Cu++ transporting, beta polypeptide IAGP MGI PMID:2845190 PMID:6863890 PMID:8040371 NCBI chr 8:22,482,799...22,550,347
Ensembl chr 8:22,482,801...22,550,321 		JBrowse link
G Commd1 COMM domain containing 1 IAGP MGI PMID:22216203 NCBI chr11:22,849,728...22,934,539
Ensembl chr11:22,846,136...22,932,382 		JBrowse link
G Sco2 SCO2 cytochrome c oxidase assembly protein IAGP MGI PMID:19837698 NCBI chr15:89,255,833...89,258,094
Ensembl chr15:89,255,840...89,258,049 		JBrowse link
G Slc39a4 solute carrier family 39 (zinc transporter), member 4 IAGP MGI PMID:22737083 NCBI chr15:76,496,583...76,501,579
Ensembl chr15:76,496,583...76,501,584 		JBrowse link
G Speer6-ps1 spermatogenesis associated glutamate (E)-rich protein 6, pseudogene 1 IAGP MGI PMID:22216203 NCBI chr13:3,199,475...3,239,678
Ensembl chr13:3,236,206...3,239,317
Ensembl chr13:3,236,206...3,239,317 		JBrowse link
G Steap3 STEAP family member 3 IAGP MGI PMID:18955558 NCBI chr 1:120,154,137...120,198,810
Ensembl chr 1:120,118,487...120,200,435 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 16476
    homeostasis/metabolism phenotype 7549
      abnormal homeostasis 6715
        abnormal mineral homeostasis 1045
          abnormal copper homeostasis 19
            abnormal copper level + 17
paths to the root