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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | myocardial infarction | | ISO | RGD:1313932 | 8554872 | ClinVar Annotator: match by OMIM:608446 | ClinVar | PMID:17847002 | |
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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | myocardial infarction | | ISO | RGD:1313932 | 8554872 | ClinVar Annotator: match by OMIM:608446 | ClinVar | PMID:17847002 | |
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1. | Beffert U, etal., Neuron. 2005 Aug 18;47(4):567-79. |
2. | Helbecque N, etal., Neurobiol Aging. 2009 Feb;30(2):266-71. Epub 2007 Jul 5. |
3. | Hosoda A, etal., Biosci Biotechnol Biochem. 2010;74(3):677-9. Epub 2010 Mar 7. |
4. | Jossin Y, etal., Cereb Cortex 2003 Jun;13(6):627-33. |
5. | Kim DH, etal., J Biol Chem. 1996 Apr 5;271(14):8373-80. |
6. | Kinoshita M, etal., J Biochem. 1985 Jun;97(6):1803-6. |
7. | Kosacka J, etal., Neuroscience. 2009 Aug 18;162(2):282-91. Epub 2009 May 3. |
8. | Lieb W, etal., J Mol Med. 2008 Oct;86(10):1163-70. Epub 2008 Jul 1. |
9. | Ma SL, etal., Neurosci Lett. 2002 Nov 8;332(3):216-8. |
10. | MGD data from the GO Consortium |
11. | Myant NB Proc Biol Sci. 2010 Feb 7;277(1680):345-51. Epub 2009 Oct 21. |
12. | OMIM Disease Annotation Pipeline |
13. | Pathak A, etal., Cereb Cortex. 2010 Apr 5. |
14. | Pipeline to import Pathway Interaction Database annotations from NCI into RGD |
15. | Posse De Chaves EI, etal., J Biol Chem. 2000 Jun 30;275(26):19883-90. |
16. | Quattrocchi CC, etal., Science 2003 Aug 1;301(5633):649-53. |
17. | RGD automated data pipeline |
18. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
19. | RGD automated import pipeline for gene-chemical interactions |
20. | RGD comprehensive gene curation |
21. | Romay-Penabad Z, etal., Blood. 2011 Jan 27;117(4):1408-14. Epub 2010 Nov 30. |
22. | Shen GQ, etal., Am J Hum Genet. 2007 Oct;81(4):780-91. Epub 2007 Aug 31. |
23. | Stockinger W, etal., J Biol Chem. 1998 Nov 27;273(48):32213-21. |
24. | Verbrugghe P, etal., Am J Med Genet B Neuropsychiatr Genet. 2012 Jun;159B(4):392-404. doi: 10.1002/ajmg.b.32042. Epub 2012 Mar 14. |
25. | Verhey KJ, etal., J Cell Biol. 2001 Mar 5;152(5):959-70. |
PMID:10571240 | PMID:11369809 | PMID:12526740 | PMID:15950758 | PMID:16227578 | PMID:17314095 | PMID:17330141 | PMID:18089558 | PMID:18778775 | PMID:19946888 | PMID:20711475 | PMID:21852430 |
PMID:22761431 | PMID:23382219 | PMID:25233900 | PMID:25340851 | PMID:27653801 | PMID:29336888 |
Lrp8 (Rattus norvegicus - Norway rat) |
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LRP8 (Homo sapiens - human) |
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Lrp8 (Mus musculus - house mouse) |
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Lrp8 (Chinchilla lanigera - long-tailed chinchilla) |
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LRP8 (Pan paniscus - bonobo/pygmy chimpanzee) |
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LRP8 (Canis lupus familiaris - dog) |
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Lrp8 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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LRP8 (Sus scrofa - pig) |
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LRP8 (Chlorocebus sabaeus - African green monkey) |
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Lrp8 (Heterocephalus glaber - naked mole-rat) |
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RH134765 |
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The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | appendage | |
High | |||||||||||||
Medium | 8 | 8 | 2 | 6 | 2 | 74 | 4 | 29 | |||||
Low | 3 | 34 | 31 | 21 | 13 | 21 | 1 | 1 | 31 | 12 | 11 | 1 | |
Below cutoff | 1 | 17 | 17 | 17 | 7 | 10 | 7 |
RefSeq Transcripts | XM_003749992 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_003749993 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006238567 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006238570 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006238571 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006238574 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039111148 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039111149 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039111150 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039111151 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039111152 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039111153 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039111154 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039111155 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039111156 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039111157 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039111158 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039111159 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039111160 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_342877 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | CH474008 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
JACYVU010000162 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000017575 ⟹ ENSRNOP00000017575 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_003749992 ⟹ XP_003750040 | ||||||||||||||||
RefSeq Status: | |||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_003749993 ⟹ XP_003750041 | ||||||||||||||||
RefSeq Status: | |||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006225511 ⟹ XP_006225573 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006238567 ⟹ XP_006238629 | ||||||||||||||||
RefSeq Status: | |||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006238570 ⟹ XP_006238632 | ||||||||||||||||
RefSeq Status: | |||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006238571 ⟹ XP_006238633 | ||||||||||||||||
RefSeq Status: | |||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006238574 ⟹ XP_006238636 | ||||||||||||||||
RefSeq Status: | |||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_008763937 ⟹ XP_008762159 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_008763938 ⟹ XP_008762160 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_008763939 ⟹ XP_008762161 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_008763941 ⟹ XP_008762163 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_008763942 ⟹ XP_008762164 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_008763943 ⟹ XP_008762165 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_008763944 ⟹ XP_008762166 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_008763945 ⟹ XP_008762167 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_008763946 ⟹ XP_008762168 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_008763948 ⟹ XP_008762170 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_039111148 ⟹ XP_038967076 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039111149 ⟹ XP_038967077 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039111150 ⟹ XP_038967078 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039111151 ⟹ XP_038967079 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039111152 ⟹ XP_038967080 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039111153 ⟹ XP_038967081 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039111154 ⟹ XP_038967082 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039111155 ⟹ XP_038967083 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039111156 ⟹ XP_038967084 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039111157 ⟹ XP_038967085 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039111158 ⟹ XP_038967086 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039111159 ⟹ XP_038967087 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039111160 ⟹ XP_038967088 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_342877 ⟹ XP_342878 | ||||||||||||||||||||
RefSeq Status: | |||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | XP_003750040 | (Get FASTA) | NCBI Sequence Viewer |
XP_003750041 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006238629 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006238632 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006238633 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006238636 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038967076 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038967077 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038967078 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038967079 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038967080 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038967081 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038967082 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038967083 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038967084 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038967085 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038967086 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038967087 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038967088 | (Get FASTA) | NCBI Sequence Viewer | |
XP_342878 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | EDL90425 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | XP_342878 ⟸ XM_342877 |
- Peptide Label: | isoform X14 |
- Sequence: |
RefSeq Acc Id: | XP_003750040 ⟸ XM_003749992 |
- Peptide Label: | isoform X11 |
- Sequence: |
RefSeq Acc Id: | XP_003750041 ⟸ XM_003749993 |
- Peptide Label: | isoform X8 |
- Sequence: |
RefSeq Acc Id: | XP_006225573 ⟸ XM_006225511 |
- Peptide Label: | isoform X18 |
- Sequence: |
RefSeq Acc Id: | XP_006238632 ⟸ XM_006238570 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | XP_006238633 ⟸ XM_006238571 |
- Peptide Label: | isoform X4 |
- Sequence: |
RefSeq Acc Id: | XP_006238629 ⟸ XM_006238567 |
- Peptide Label: | isoform X9 |
- Sequence: |
RefSeq Acc Id: | XP_006238636 ⟸ XM_006238574 |
- Peptide Label: | isoform X20 |
- Sequence: |
RefSeq Acc Id: | XP_008762167 ⟸ XM_008763945 |
- Peptide Label: | isoform X12 |
- Sequence: |
RefSeq Acc Id: | XP_008762160 ⟸ XM_008763938 |
- Peptide Label: | isoform X2 |
- Sequence: |
RefSeq Acc Id: | XP_008762163 ⟸ XM_008763941 |
- Peptide Label: | isoform X4 |
- Sequence: |
RefSeq Acc Id: | XP_008762164 ⟸ XM_008763942 |
- Peptide Label: | isoform X5 |
- Sequence: |
RefSeq Acc Id: | XP_008762159 ⟸ XM_008763937 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | XP_008762161 ⟸ XM_008763939 |
- Peptide Label: | isoform X3 |
- Sequence: |
RefSeq Acc Id: | XP_008762165 ⟸ XM_008763943 |
- Peptide Label: | isoform X8 |
- Sequence: |
RefSeq Acc Id: | XP_008762166 ⟸ XM_008763944 |
- Peptide Label: | isoform X9 |
- Sequence: |
RefSeq Acc Id: | XP_008762168 ⟸ XM_008763946 |
- Peptide Label: | isoform X13 |
- Sequence: |
RefSeq Acc Id: | XP_008762170 ⟸ XM_008763948 |
- Peptide Label: | isoform X14 |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000017575 ⟸ ENSRNOT00000017575 |
RefSeq Acc Id: | XP_038967087 ⟸ XM_039111159 |
- Peptide Label: | isoform X18 |
RefSeq Acc Id: | XP_038967077 ⟸ XM_039111149 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_038967076 ⟸ XM_039111148 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038967080 ⟸ XM_039111152 |
- Peptide Label: | isoform X7 |
RefSeq Acc Id: | XP_038967078 ⟸ XM_039111150 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_038967079 ⟸ XM_039111151 |
- Peptide Label: | isoform X6 |
RefSeq Acc Id: | XP_038967081 ⟸ XM_039111153 |
- Peptide Label: | isoform X10 |
RefSeq Acc Id: | XP_038967082 ⟸ XM_039111154 |
- Peptide Label: | isoform X12 |
RefSeq Acc Id: | XP_038967083 ⟸ XM_039111155 |
- Peptide Label: | isoform X13 |
RefSeq Acc Id: | XP_038967085 ⟸ XM_039111157 |
- Peptide Label: | isoform X16 |
RefSeq Acc Id: | XP_038967086 ⟸ XM_039111158 |
- Peptide Label: | isoform X17 |
RefSeq Acc Id: | XP_038967084 ⟸ XM_039111156 |
- Peptide Label: | isoform X15 |
RefSeq Acc Id: | XP_038967088 ⟸ XM_039111160 |
- Peptide Label: | isoform X19 |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
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Database | Acc Id | Source(s) |
AGR Gene | RGD:1305729 | AgrOrtholog |
Ensembl Genes | ENSRNOG00000013064 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Protein | ENSRNOP00000017575 | ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000017575 | UniProtKB/TrEMBL |
Gene3D-CATH | 2.120.10.30 | UniProtKB/TrEMBL |
4.10.400.10 | UniProtKB/TrEMBL | |
InterPro | 6-blade_b-propeller_TolB-like | UniProtKB/TrEMBL |
EGF-type_Asp/Asn_hydroxyl_site | UniProtKB/TrEMBL | |
EGF_3 | UniProtKB/TrEMBL | |
EGF_Ca-bd | UniProtKB/TrEMBL | |
EGF_Ca-bd_CS | UniProtKB/TrEMBL | |
Growth_fac_rcpt_N_dom | UniProtKB/TrEMBL | |
LDL_rcpt_classB_YWTD_rpt | UniProtKB/TrEMBL | |
LDL_receptor-like_sf | UniProtKB/TrEMBL | |
LDLR_class-A_CS | UniProtKB/TrEMBL | |
LDLR_classA_rpt | UniProtKB/TrEMBL | |
NCBI Gene | 362558 | ENTREZGENE |
Pfam | EGF_CA | UniProtKB/TrEMBL |
Ldl_recept_a | UniProtKB/TrEMBL | |
Ldl_recept_b | UniProtKB/TrEMBL | |
PhenoGen | Lrp8 | PhenoGen |
PRINTS | LDLRECEPTOR | UniProtKB/TrEMBL |
PROSITE | ASX_HYDROXYL | UniProtKB/TrEMBL |
EGF_2 | UniProtKB/TrEMBL | |
EGF_3 | UniProtKB/TrEMBL | |
EGF_CA | UniProtKB/TrEMBL | |
LDLRA_1 | UniProtKB/TrEMBL | |
LDLRA_2 | UniProtKB/TrEMBL | |
LDLRB | UniProtKB/TrEMBL | |
SMART | EGF | UniProtKB/TrEMBL |
EGF_CA | UniProtKB/TrEMBL | |
LDLa | UniProtKB/TrEMBL | |
SM00135 | UniProtKB/TrEMBL | |
Superfamily-SCOP | LDL_rcpt_classA_cys-rich | UniProtKB/TrEMBL |
SSF57184 | UniProtKB/TrEMBL | |
UniProt | D3ZE75_RAT | UniProtKB/TrEMBL |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2015-12-11 | Lrp8 | LDL receptor related protein 8 | Lrp8 | low density lipoprotein receptor-related protein 8, apolipoprotein e receptor | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2008-04-30 | Lrp8 | low density lipoprotein receptor-related protein 8, apolipoprotein e receptor | Lrp8_predicted | low density lipoprotein receptor-related protein 8, apolipoprotein e receptor (predicted) | 'predicted' is removed | 2292626 | APPROVED |
2005-01-12 | Lrp8_predicted | low density lipoprotein receptor-related protein 8, apolipoprotein e receptor (predicted) | Symbol and Name status set to approved | 70820 | APPROVED |