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| # | Reference Title | Reference Citation |
| 1. | Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. | Arts HH, etal., Nat Genet. 2007 Jul;39(7):882-8. Epub 2007 Jun 10. |
| 2. | The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase. | Coene KL, etal., Hum Mol Genet. 2011 Sep 15;20(18):3592-605. doi: 10.1093/hmg/ddr280. Epub 2011 Jun 17. |
| 3. | The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. | Delous M, etal., Nat Genet. 2007 Jul;39(7):875-81. Epub 2007 Jun 10. |
| 4. | Polymorphic variation of RPGRIP1L and IQCB1 as modifiers of X-linked retinitis pigmentosa caused by mutations in RPGR. | Fahim AT, etal., Adv Exp Med Biol. 2012;723:313-20. doi: 10.1007/978-1-4614-0631-0_41. |
| 5. | 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. |
| 6. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 7. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 8. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 9. | Comprehensive gene review and curation | RGD comprehensive gene curation |
| 10. | Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis. | Wolf MT, etal., Kidney Int. 2007 Dec;72(12):1520-6. Epub 2007 Oct 24. |
| 11. | Genetic association of the gene encoding RPGRIP1L with susceptibility to vascular dementia. | Woo J and Lee C, Gene. 2012 May 10;499(1):160-2. doi: 10.1016/j.gene.2012.03.010. Epub 2012 Mar 8. |
| PMID:17553904 | PMID:19464661 | PMID:21399614 | PMID:21565611 | PMID:22832925 | PMID:22927466 | PMID:26595381 | PMID:29487109 |
| Rpgrip1l (Rattus norvegicus - Norway rat) |
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| RPGRIP1L (Homo sapiens - human) |
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| Rpgrip1l (Mus musculus - house mouse) |
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| Rpgrip1l (Chinchilla lanigera - long-tailed chinchilla) |
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| RPGRIP1L (Pan paniscus - bonobo/pygmy chimpanzee) |
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| RPGRIP1L (Canis lupus familiaris - dog) |
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| Rpgrip1l (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| RPGRIP1L (Sus scrofa - pig) |
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| RPGRIP1L (Chlorocebus sabaeus - green monkey) |
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| Rpgrip1l (Heterocephalus glaber - naked mole-rat) |
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.
Variants in Rpgrip1l
558 total Variants
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| 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. |
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| The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
| D19Got7 |
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| AU028726 |
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| RH138333 |
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 16 | 12 | 67 | 165 | 91 | 90 | 59 | 91 | 59 | 6 | 355 | 191 | 11 | 144 | 81 | 92 | 31 | 17 | 17 |
| RefSeq Transcripts | NM_001107414 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001434436 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017601283 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017601285 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017601286 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017601287 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039097720 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063278004 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063278005 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063278006 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063278007 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063278008 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063278009 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063278010 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063278011 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063278012 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063278013 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063278014 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_001842209 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_001842210 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_001842211 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_001842212 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_010059993 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_010059994 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_010059995 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AC122609 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| CH474037 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| JAXUCZ010000019 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000015876 ⟹ ENSRNOP00000015876 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000108798 ⟹ ENSRNOP00000090332 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000132693 ⟹ ENSRNOP00000105166 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000162873 ⟹ ENSRNOP00000107766 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000168059 ⟹ ENSRNOP00000104567 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | NM_001107414 ⟹ NP_001100884 | ||||||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_039097720 ⟹ XP_038953648 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | XM_063278004 ⟹ XP_063134074 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063278005 ⟹ XP_063134075 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063278006 ⟹ XP_063134076 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063278007 ⟹ XP_063134077 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063278008 ⟹ XP_063134078 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063278009 ⟹ XP_063134079 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063278010 ⟹ XP_063134080 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063278011 ⟹ XP_063134081 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063278012 ⟹ XP_063134082 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063278013 ⟹ XP_063134083 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063278014 ⟹ XP_063134084 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XR_010059993 | ||||||||
| Type: | NON-CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XR_010059994 | ||||||||
| Type: | NON-CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XR_010059995 | ||||||||
| Type: | NON-CODING | ||||||||
| Position: |
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| Protein RefSeqs | NP_001100884 | (Get FASTA) | NCBI Sequence Viewer |
| NP_001421365 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038953648 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063134074 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063134075 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063134076 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063134077 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063134078 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063134079 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063134080 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063134081 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063134082 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063134083 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063134084 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | EDL87552 | (Get FASTA) | NCBI Sequence Viewer |
| Ensembl Protein | ENSRNOP00000015876 | ||
| ENSRNOP00000015876.5 | |||
| ENSRNOP00000090332 | |||
| ENSRNOP00000090332.2 | |||
| ENSRNOP00000104567 | |||
| ENSRNOP00000104567.1 | |||
| ENSRNOP00000105166.1 | |||
| ENSRNOP00000107766.1 |
| RefSeq Acc Id: | NP_001100884 ⟸ NM_001107414 |
| - UniProtKB: | A6KD74 (UniProtKB/TrEMBL), D3Z8G3 (UniProtKB/TrEMBL) |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000015876 ⟸ ENSRNOT00000015876 |
| RefSeq Acc Id: | XP_038953648 ⟸ XM_039097720 |
| - Peptide Label: | isoform X6 |
| Ensembl Acc Id: | ENSRNOP00000090332 ⟸ ENSRNOT00000108798 |
| RefSeq Acc Id: | XP_063134076 ⟸ XM_063278006 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | A6KD74 (UniProtKB/TrEMBL), D3Z8G3 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_063134075 ⟸ XM_063278005 |
| - Peptide Label: | isoform X1 |
| RefSeq Acc Id: | XP_063134084 ⟸ XM_063278014 |
| - Peptide Label: | isoform X9 |
| RefSeq Acc Id: | XP_063134077 ⟸ XM_063278007 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | A6KD74 (UniProtKB/TrEMBL), D3Z8G3 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_063134082 ⟸ XM_063278012 |
| - Peptide Label: | isoform X7 |
| RefSeq Acc Id: | XP_063134083 ⟸ XM_063278013 |
| - Peptide Label: | isoform X8 |
| RefSeq Acc Id: | XP_063134079 ⟸ XM_063278009 |
| - Peptide Label: | isoform X3 |
| - UniProtKB: | D3Z8G3 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_063134074 ⟸ XM_063278004 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | A6KD74 (UniProtKB/TrEMBL), D3Z8G3 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_063134078 ⟸ XM_063278008 |
| - Peptide Label: | isoform X2 |
| - UniProtKB: | A0A8I6A999 (UniProtKB/TrEMBL), D3Z8G3 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_063134080 ⟸ XM_063278010 |
| - Peptide Label: | isoform X4 |
| RefSeq Acc Id: | XP_063134081 ⟸ XM_063278011 |
| - Peptide Label: | isoform X5 |
| Ensembl Acc Id: | ENSRNOP00000104567 ⟸ ENSRNOT00000168059 |
| Ensembl Acc Id: | ENSRNOP00000107766 ⟸ ENSRNOT00000162873 |
| Ensembl Acc Id: | ENSRNOP00000105166 ⟸ ENSRNOT00000132693 |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-D3Z8G3-F1-model_v2 | AlphaFold | D3Z8G3 | 1-1264 | view protein structure |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| RGD ID: | 13700972 | ||||||||
| Promoter ID: | EPDNEW_R11495 | ||||||||
| Type: | single initiation site | ||||||||
| Name: | Rpgrip1l_1 | ||||||||
| Description: | Rpgrip1-like | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
| Experiment Methods: | Single-end sequencing. | ||||||||
| Position: |
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| Database | Acc Id | Source(s) |
| AGR Gene | RGD:1311099 | AgrOrtholog |
| BioCyc Gene | G2FUF-6361 | BioCyc |
| Ensembl Genes | ENSRNOG00000011829 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
| Ensembl Transcript | ENSRNOT00000015876 | ENTREZGENE |
| ENSRNOT00000015876.5 | UniProtKB/TrEMBL | |
| ENSRNOT00000108798 | ENTREZGENE | |
| ENSRNOT00000108798.2 | UniProtKB/TrEMBL | |
| ENSRNOT00000132693.1 | UniProtKB/TrEMBL | |
| ENSRNOT00000162873.1 | UniProtKB/TrEMBL | |
| ENSRNOT00000168059 | ENTREZGENE | |
| ENSRNOT00000168059.1 | UniProtKB/TrEMBL | |
| Gene3D-CATH | 2.60.40.150 | UniProtKB/TrEMBL |
| InterPro | C2_Ca-dep | UniProtKB/TrEMBL |
| C2_domain_sf | UniProtKB/TrEMBL | |
| DUF3250 | UniProtKB/TrEMBL | |
| RPGRIP1_C | UniProtKB/TrEMBL | |
| RPGRIP1_fam | UniProtKB/TrEMBL | |
| KEGG Report | rno:307724 | UniProtKB/TrEMBL |
| NCBI Gene | 307724 | ENTREZGENE |
| PANTHER | PTHR14240 | UniProtKB/TrEMBL |
| PTHR14240:SF4 | UniProtKB/TrEMBL | |
| Pfam | DUF3250 | UniProtKB/TrEMBL |
| PF00168 | UniProtKB/TrEMBL | |
| RPGR1_C | UniProtKB/TrEMBL | |
| PhenoGen | Rpgrip1l | PhenoGen |
| PROSITE | PS50004 | UniProtKB/TrEMBL |
| RatGTEx | ENSRNOG00000011829 | RatGTEx |
| SMART | SM00239 | UniProtKB/TrEMBL |
| Superfamily-SCOP | SSF49562 | UniProtKB/TrEMBL |
| UniProt | A0A8I6A999 | ENTREZGENE, UniProtKB/TrEMBL |
| A0ABK0L4L8_RAT | UniProtKB/TrEMBL | |
| A0ABK0L5P7_RAT | UniProtKB/TrEMBL | |
| A0ABK0LUV6_RAT | UniProtKB/TrEMBL | |
| A6KD74 | ENTREZGENE, UniProtKB/TrEMBL | |
| D3Z8G3 | ENTREZGENE, UniProtKB/TrEMBL |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2008-02-27 | Rpgrip1l | Rpgrip1-like | RGD1311099_predicted | similar to Fantom protein (predicted) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2005-01-20 | RGD1311099_predicted | similar to Fantom protein (predicted) | LOC307724_predicted | Symbol and Name status set to approved | 1331353 | APPROVED | |
| 2005-01-12 | LOC307724_predicted | similar to Fantom protein (predicted) | Symbol and Name status set to provisional | 70820 | PROVISIONAL |