Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Charcot-Marie-Tooth disease dominant intermediate C | | ISO | RGD:735421 | 8554872 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C | ClinVar | PMID:28492532 | torsion dystonia 2 | | ISO | RGD:735421 | 8554872 | ClinVar Annotator: match by term: Torsion dystonia 2 | ClinVar | PMID:14694054 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
 |
Welcome {{ username}}
Message Center
{{ messageCount }} Messages
Watched Genes
{{$index + 1}}. {{ watchedObject.symbol }} (RGD ID:{{watchedObject.rgdId}})
Watched Ontology Terms
{{gene.symbol}}: {{ gene.description }}
|
| Save what matters to you |
| {{ loginError }} |
| Sign in with your RGD account |
| Create New Account | Recover Password |
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
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
|
|
|
References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Hippocalcin in rat retina. Comparison with calbindin-D28k, calretinin and neurocalcin. | Bastianelli E, etal., Exp Eye Res. 1995 Mar;60(3):257-66. |
| 2. | Brain region-specific changes in the expression of calcium sensor proteins after repeated applications of ketamine to rats. | Bernstein HG, etal., Neurosci Lett. 2003 Mar 20;339(2):95-8. |
| 3. | Expression profiling shows differential molecular pathways and provides potential new diagnostic biomarkers for colorectal serrated adenocarcinoma. | Conesa-Zamora P, etal., Int J Cancer. 2013 Jan 15;132(2):297-307. doi: 10.1002/ijc.27674. Epub 2012 Jun 28. |
| 4. | Decoding glutamate receptor activation by the Ca2+ sensor protein hippocalcin in rat hippocampal neurons. | Dovgan AV, etal., Eur J Neurosci. 2010 Aug;32(3):347-58. doi: 10.1111/j.1460-9568.2010.07303.x. |
| 5. | Analysis of the interacting partners of the neuronal calcium-binding proteins L-CaBP1, hippocalcin, NCS-1 and neurocalcin delta. | Haynes LP, etal., Proteomics. 2006 Mar;6(6):1822-32. |
| 6. | Role of hippocalcin in Ca2+ -induced activation of phospholipase D. | Hyun JK, etal., Mol Cells. 2000 Dec 31;10(6):669-77. |
| 7. | Muscarinic receptors induce LTD of NMDAR EPSCs via a mechanism involving hippocalcin, AP2 and PSD-95. | Jo J, etal., Nat Neurosci. 2010 Oct;13(10):1216-24. doi: 10.1038/nn.2636. Epub 2010 Sep 19. |
| 8. | Molecular cloning of hippocalcin, a novel calcium-binding protein of the recoverin family exclusively expressed in hippocampus. | Kobayashi M, etal., Biochem Biophys Res Commun 1992 Nov 30;189(1):511-7. |
| 9. | Hippocalcin mediates calcium-dependent translocation of brain-type creatine kinase (BB-CK) in hippocampal neurons. | Kobayashi M, etal., Biochem Biophys Res Commun. 2012 Dec 14;429(3-4):142-7. doi: 10.1016/j.bbrc.2012.10.125. Epub 2012 Nov 6. |
| 10. | Myristoylation of hippocalcin is linked to its calcium-dependent membrane association properties. | Kobayashi M, etal., J Biol Chem. 1993 Sep 5;268(25):18898-904. |
| 11. | Hippocalcin in the olfactory epithelium: a mediator of second messenger signaling. | Mammen A, etal., Biochem Biophys Res Commun. 2004 Oct 1;322(4):1131-9. |
| 12. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
| 13. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
| 14. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 15. | GOA pipeline | RGD automated data pipeline |
| 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. | Gene expression profiles following exposure to a developmental neurotoxicant, Aroclor 1254: pathway analysis for possible mode(s) of action. | Royland JE and Kodavanti PR, Toxicol Appl Pharmacol. 2008 Sep 1;231(2):179-96. Epub 2008 May 6. |
| 19. | Diminished hippocalcin expression in Huntington's disease brain does not account for increased striatal neuron vulnerability as assessed in primary neurons. | Rudinskiy N, etal., J Neurochem. 2009 Oct;111(2):460-72. doi: 10.1111/j.1471-4159.2009.06344.x. Epub 2009 Aug 17. |
| 20. | Expression of hippocalcin in the developing rat brain. | Saitoh S, etal., Brain Res Dev Brain Res. 1994 Jul 15;80(1-2):199-208. |
| 21. | Distribution of hippocalcin mRNA and immunoreactivity in rat brain. | Saitoh S, etal., Neurosci Lett. 1993 Jul 9;157(1):107-10. |
| 22. | Hippocalcin expression in the brain of the Snell dwarf mutant mouse. | Sugisaki T, etal., Brain Res. 1994 Nov 28;665(1):101-6. |
| 23. | Molecular cloning of human hippocalcin cDNA and chromosomal mapping of its gene. | Takamatsu K, etal., Biochem Biophys Res Commun 1994 Apr 15;200(1):606-11. |
| 24. | Isolation and characterization of recoverin-like Ca(2+)-binding protein from rat brain. | Takamatsu K, etal., Biochem Biophys Res Commun. 1992 Feb 28;183(1):245-51. |
Additional References at PubMed
| PMID:8240319 | PMID:8938744 | PMID:11964161 | PMID:12477932 | PMID:12657681 | PMID:15489334 | PMID:16102532 | PMID:16294323 | PMID:21795542 | PMID:21873635 | PMID:22639951 | PMID:28398555 |
| PMID:29061397 | PMID:31301343 |
Genomics
