Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | pontocerebellar hypoplasia type 3 | | ISO | PCLO (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
 |
Welcome {{ username}}
Message Center
{{ messageCount }} Messages
Watched Genes
{{$index + 1}}. {{ watchedObject.symbol }} (RGD ID:{{watchedObject.rgdId}})
Watched Ontology Terms
{{gene.symbol}}: {{ gene.description }}
|
| You must be logged in to use this feature |
| {{ loginError }} |
|
|
Analyze GeneStrainQTL List |
 Gene Annotator (Functional Annotation) unavailable |
 Gene Annotator (Annotation Distribution) unavailable |
 Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable |
Gene Annotator (Functional Annotation) |
Gene Annotator (Annotation Distribution) |
Variant Visualizer (Genomic Variants) |
 InterViewer (Protein-Protein Interactions) unavailable |
 Gviewer (Genome Viewer) unavailable |
 Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable |
InterViewer (Protein-Protein Interactions) |
GViewer (Genome Viewer) |
Variant Visualizer (Damaging Variants) |
 Gene Annotator (Annotation Comparison) unavailable |
 OLGA (Gene List Generator) unavailable |
 |
Gene Annotator (Annotation Comparison) |
OLGA (Gene List Generator) |
Excel (Download) |
 MOET (Multi-Ontology Enrichement) unavailable |
 GOLF (Gene-Ortholog Location Finder) unavailable |
|
MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
|
||||||||||
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
Cellular Component
Molecular Function
Phenotype Annotations Click to see Annotation Detail View
Mammalian Phenotype
Disease Annotations
Click to see Annotation Detail View
|
|
|
Gene-Chemical Interaction Annotations
Click to see Annotation Detail View
Gene Ontology Annotations
Click to see Annotation Detail View
Biological Process
|
|
|
Cellular Component
|
|
|
Molecular Function
|
|
|
Phenotype Annotations
Click to see Annotation Detail View
Mammalian Phenotype
|
|
|
References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Critical role for Piccolo in synaptic vesicle retrieval. | Ackermann F, etal., Elife. 2019 May 10;8. pii: 46629. doi: 10.7554/eLife.46629. |
| 2. | Localization of the presynaptic cytomatrix protein Piccolo at ribbon and conventional synapses in the rat retina: comparison with Bassoon. | Dick O, etal., J Comp Neurol. 2001 Oct 15;439(2):224-34. |
| 3. | Assembly of active zone precursor vesicles: obligatory trafficking of presynaptic cytomatrix proteins Bassoon and Piccolo via a trans-Golgi compartment. | Dresbach T, etal., J Biol Chem. 2006 Mar 3;281(9):6038-47. Epub 2005 Dec 21. |
| 4. | Gene structure and genetic localization of the PCLO gene encoding the presynaptic active zone protein Piccolo. | Fenster SD and Garner CC, Int J Dev Neurosci 2002 Jun-Aug;20(3-5):161-71. |
| 5. | Piccolo, a presynaptic zinc finger protein structurally related to bassoon. | Fenster SD, etal., Neuron 2000 Jan;25(1):203-14. |
| 6. | A conformational switch in the Piccolo C2A domain regulated by alternative splicing. | Garcia J, etal., Nat Struct Mol Biol. 2004 Jan;11(1):45-53. Epub 2003 Dec 29. |
| 7. | 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. |
| 8. | An unusual C(2)-domain in the active-zone protein piccolo: implications for Ca(2+) regulation of neurotransmitter release. | Gerber SH, etal., EMBO J 2001 Apr 2;20(7):1605-19. |
| 9. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
| 10. | Synaptic activity controls localization and function of CtBP1 via binding to Bassoon and Piccolo. | Ivanova D, etal., EMBO J. 2015 Apr 15;34(8):1056-77. doi: 10.15252/embj.201488796. Epub 2015 Feb 4. |
| 11. | Differential expression of active zone proteins in neuromuscular junctions suggests functional diversification. | Juranek J, etal., Eur J Neurosci. 2006 Dec;24(11):3043-52. |
| 12. | The GIT family of proteins forms multimers and associates with the presynaptic cytomatrix protein Piccolo. | Kim S, etal., J Biol Chem. 2003 Feb 21;278(8):6291-300. Epub 2002 Dec 6. |
| 13. | Molecular in situ topology of Aczonin/Piccolo and associated proteins at the mammalian neurotransmitter release site. | Limbach C, etal., Proc Natl Acad Sci U S A. 2011 Aug 2;108(31):E392-401. doi: 10.1073/pnas.1101707108. Epub 2011 Jun 28. |
| 14. | Formation of Golgi-derived active zone precursor vesicles. | Maas C, etal., J Neurosci. 2012 Aug 8;32(32):11095-108. doi: 10.1523/JNEUROSCI.0195-12.2012. |
| 15. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
| 16. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 17. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 18. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 19. | Comprehensive gene review and curation | RGD comprehensive gene curation |
| 20. | Immunogold labeling of synaptic vesicle proteins in developing hippocampal neurons. | Tao-Cheng JH, Mol Brain. 2020 Jan 20;13(1):9. doi: 10.1186/s13041-020-0549-x. |
| 21. | Bassoon and Piccolo maintain synapse integrity by regulating protein ubiquitination and degradation. | Waites CL, etal., EMBO J. 2013 Apr 3;32(7):954-69. doi: 10.1038/emboj.2013.27. Epub 2013 Feb 12. |
| 22. | Assembling the presynaptic active zone: a characterization of an active one precursor vesicle. | Zhai RG, etal., Neuron. 2001 Jan;29(1):131-43. |
Additional References at PubMed
| PMID:10508862 | PMID:12401793 | PMID:17114649 | PMID:18519737 | PMID:18570454 | PMID:19812333 | PMID:20127803 | PMID:20332206 | PMID:21144999 | PMID:21700703 | PMID:23936420 | PMID:25897839 |
| PMID:26793095 | PMID:27907191 | PMID:29194628 | PMID:29476059 | PMID:30053369 | PMID:32122952 |
Genomics
Comparative Map Data
| Pclo (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| PCLO (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pclo (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pclo (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| PCLO (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| PCLO (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pclo (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| PCLO (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| PCLO (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pclo (Heterocephalus glaber - naked mole-rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Variants
.
Variants in Pclo
2088 total Variants 
|
