Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | adrenal cortical adenoma | | ISO | ATP2B3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Aldosterone-producing adrenal cortex adenoma | ClinVar | PMID:23416519 | adrenoleukodystrophy | | ISO | ATP2B3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Adrenoleukodystrophy | ClinVar | PMID:10480214 more ... | autistic disorder | | ISO | ATP2B3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:21681106 and PMID:30208311 | Barth syndrome | | ISO | ATP2B3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar | PMID:10480214 more ... | cerebral creatine deficiency syndrome 1 | | ISO | ATP2B3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Creatine transporter deficiency | ClinVar | PMID:10480214 more ... | Developmental Disabilities | | ISO | ATP2B3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:25741868 | dyskeratosis congenita | | ISO | ATP2B3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dyskeratosis congenita | ClinVar | PMID:18177777 and PMID:28492532 | Emery-Dreifuss muscular dystrophy | | ISO | ATP2B3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy | ClinVar | PMID:10480214 more ... | favism | | ISO | ATP2B3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Anemia more ... | ClinVar | PMID:18177777 and PMID:28492532 | fetal akinesia deformation sequence syndrome 1 | | ISO | ATP2B3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar | PMID:25741868 and PMID:31680123 | genetic disease | | ISO | ATP2B3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:10797423 more ... | immunodeficiency 33 | | ISO | ATP2B3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 33 | ClinVar | PMID:25741868 | Meester-Loeys syndrome | | ISO | ATP2B3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Meester-Loeys syndrome | ClinVar | PMID:27632686 | Muscle Hypotonia | | ISO | ATP2B3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neonatal hypotonia | ClinVar | PMID:25741868 | Neurodevelopmental Disorders | | ISO | ATP2B3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | paraplegia | | ISO | ATP2B3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia | ClinVar | PMID:10480214 more ... | periventricular nodular heterotopia | | ISO | ATP2B3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Heterotopia more ... | ClinVar | PMID:10480214 more ... | spastic ataxia | | ISO | ATP2B3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spastic ataxia | ClinVar | PMID:25741868 | Splenomegaly | | ISO | ATP2B3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Splenomegaly | ClinVar | PMID:25741868 | syndromic X-linked intellectual disability Lubs type | | ISO | ATP2B3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type | ClinVar | PMID:22679399 more ... | thoracic aortic aneurysm | | ISO | ATP2B3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections | ClinVar | PMID:27632686 | X-linked spinocerebellar ataxia 1 | | ISO | ATP2B3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: X-linked progressive cerebellar ataxia | ClinVar | PMID:10797423 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
Gene Ontology Annotations Click to see Annotation Detail View
Biological Process
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Molecular Pathway Annotations Click to see Annotation Detail View
RGD Manual Annotations
Imported Annotations - KEGG (archival)
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Biological Process
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Molecular Function
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Phenotype Annotations
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Expression of plasma membrane calcium-pumping ATPase mRNAs in developing rat brain and adult brain subregions: evidence for stage-specific expression. | Brandt P and Neve RL, J Neurochem. 1992 Oct;59(4):1566-9. |
| 2. | Calcium pumps in health and disease. | Brini M and Carafoli E, Physiol Rev. 2009 Oct;89(4):1341-78. doi: 10.1152/physrev.00032.2008. |
| 3. | Perisynaptic organization of plasma membrane calcium pumps in cerebellar cortex. | Burette A and Weinberg RJ, J Comp Neurol. 2007 Feb 20;500(6):1127-35. doi: 10.1002/cne.21237. |
| 4. | Structure of the rat plasma membrane Ca(2+)-ATPase isoform 3 gene and characterization of alternative splicing and transcription products. Skeletal muscle-specific splicing results in a plasma membrane Ca(2+)-ATPase with a novel calmodulin-binding domain. | Burk SE and Shull GE, J Biol Chem 1992 Sep 25;267(27):19683-90. |
| 5. | Spontaneous shaker rat mutant - a new model for X-linked tremor/ataxia. | Figueroa KP, etal., Dis Model Mech. 2016 May 1;9(5):553-62. doi: 10.1242/dmm.022848. Epub 2016 Mar 24. |
| 6. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 7. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
| 8. | Characterization of PISP, a novel single-PDZ protein that binds to all plasma membrane Ca2+-ATPase b-splice variants. | Goellner GM, etal., Ann N Y Acad Sci. 2003 Apr;986:461-71. |
| 9. | Molecular cloning of a third isoform of the calmodulin-sensitive plasma membrane Ca2+-transporting ATPase that is expressed predominantly in brain and skeletal muscle. | Greeb J and Shull GE, J Biol Chem 1989 Nov 5;264(31):18569-76. |
| 10. | Partitioning of the plasma membrane Ca2+-ATPase into lipid rafts in primary neurons: effects of cholesterol depletion. | Jiang L, etal., J Neurochem. 2007 Jul;102(2):378-88. |
| 11. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
| 12. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
| 13. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 14. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 15. | Ontogeny of plasma membrane Ca2+ ATPase isoforms in the neural retina of the postnatal rat. | Renteria RC, etal., Vis Neurosci. 2005 May-Jun;22(3):263-74. |
| 16. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 17. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 18. | The Homer-1 protein Ania-3 interacts with the plasma membrane calcium pump. | Sgambato-Faure V, etal., Biochem Biophys Res Commun. 2006 May 5;343(2):630-7. Epub 2006 Mar 15. |
| 19. | Disrupted placental vitamin D metabolism and calcium signaling in gestational diabetes and pre-eclampsia patients. | Varshney S, etal., Endocrine. 2023 Apr;80(1):191-200. doi: 10.1007/s12020-022-03272-9. Epub 2022 Dec 8. |
Additional References at PubMed
| PMID:8428948 | PMID:8541282 | PMID:12477932 | PMID:18029012 | PMID:19653992 | PMID:21798237 | PMID:22871113 | PMID:24769233 | PMID:25014339 | PMID:25276815 | PMID:25315779 | PMID:28153703 |
| PMID:29476059 | PMID:31032369 |
Genomics
Comparative Map Data
| Atp2b3 (Rattus norvegicus - Norway rat) |
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| ATP2B3 (Homo sapiens - human) |
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| Atp2b3 (Mus musculus - house mouse) |
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| Atp2b3 (Chinchilla lanigera - long-tailed chinchilla) |
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| ATP2B3 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| ATP2B3 (Canis lupus familiaris - dog) |
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| Atp2b3 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| ATP2B3 (Sus scrofa - pig) |
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| ATP2B3 (Chlorocebus sabaeus - green monkey) |
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| Atp2b3 (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in Atp2b3
43 total Variants 
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