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Imported Disease Annotations - MGIObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Cep250 | Rat | retinitis pigmentosa | | ISS | Cep250 (Mus musculus) | 13592920 | | MouseDO | | |
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Imported Disease Annotations - MGIObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Cep250 | Rat | retinitis pigmentosa | | ISS | Cep250 (Mus musculus) | 13592920 | | MouseDO | | |
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# | Reference Title | Reference Citation |
1. | 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. |
2. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
3. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
4. | Comprehensive gene review and curation | RGD comprehensive gene curation |
PMID:9647649 | PMID:10880350 | PMID:11076968 | PMID:12140259 | PMID:15784680 | PMID:18851962 | PMID:19056867 | PMID:19117032 | PMID:21399614 | PMID:23213374 | PMID:23789104 | PMID:24421332 |
PMID:24554434 | PMID:26337392 | PMID:27623382 | PMID:28005958 | PMID:30998843 |
Cep250 (Rattus norvegicus - Norway rat) |
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CEP250 (Homo sapiens - human) |
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Cep250 (Mus musculus - house mouse) |
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Cep250 (Chinchilla lanigera - long-tailed chinchilla) |
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CEP250 (Pan paniscus - bonobo/pygmy chimpanzee) |
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CEP250 (Canis lupus familiaris - dog) |
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Cep250 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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CEP250 (Sus scrofa - pig) |
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CEP250 (Chlorocebus sabaeus - green monkey) |
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Cep250 (Heterocephalus glaber - naked mole-rat) |
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Variants in Cep250
99 total Variants ![]() |
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. |
The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
BF389198 |
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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 | 162 | 91 | 90 | 59 | 92 | 59 | 6 | 356 | 192 | 11 | 141 | 81 | 92 | 31 | 17 | 17 |
RefSeq Transcripts | NM_001427194 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_017592254 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017592255 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017601183 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039106869 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039106870 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039106871 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039106872 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063283848 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063283849 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_005502972 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC118414 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
CH474050 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAXUCZ010000003 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENSRNOT00000055251 ⟹ ENSRNOP00000052126 | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Ensembl Acc Id: | ENSRNOT00000112796 ⟹ ENSRNOP00000087302 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_001427194 ⟹ NP_001414123 | ||||||||
RefSeq Status: | VALIDATED | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039106869 ⟹ XP_038962797 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039106870 ⟹ XP_038962798 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039106871 ⟹ XP_038962799 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039106872 ⟹ XP_038962800 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_063283848 ⟹ XP_063139918 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063283849 ⟹ XP_063139919 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_005502972 | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
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Protein RefSeqs | NP_001414123 | (Get FASTA) | NCBI Sequence Viewer |
XP_038962797 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038962798 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038962799 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038962800 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063139918 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063139919 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | EDL85883 | (Get FASTA) | NCBI Sequence Viewer |
Ensembl Protein | ENSRNOP00000052126 | ||
ENSRNOP00000052126.5 | |||
ENSRNOP00000087302.1 |
Ensembl Acc Id: | ENSRNOP00000052126 ⟸ ENSRNOT00000055251 |
RefSeq Acc Id: | XP_038962797 ⟸ XM_039106869 |
- Peptide Label: | isoform X1 |
- UniProtKB: | F1M7J7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038962799 ⟸ XM_039106871 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038962798 ⟸ XM_039106870 |
- Peptide Label: | isoform X1 |
- UniProtKB: | F1M7J7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038962800 ⟸ XM_039106872 |
- Peptide Label: | isoform X3 |
Ensembl Acc Id: | ENSRNOP00000087302 ⟸ ENSRNOT00000112796 |
RefSeq Acc Id: | XP_063139918 ⟸ XM_063283848 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_063139919 ⟸ XM_063283849 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | NP_001414123 ⟸ NM_001427194 |
- UniProtKB: | F1M7J7 (UniProtKB/TrEMBL) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-F1M7J7-F1-model_v2 | AlphaFold | F1M7J7 | 1-2306 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
Database | Acc Id | Source(s) |
AGR Gene | RGD:1562262 | AgrOrtholog |
BioCyc Gene | G2FUF-47112 | BioCyc |
Ensembl Genes | ENSRNOG00000019340 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000055251 | ENTREZGENE |
ENSRNOT00000055251.6 | UniProtKB/TrEMBL | |
ENSRNOT00000112796.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.10.287.1490 | UniProtKB/TrEMBL |
InterPro | Rootletin-like_CC | UniProtKB/TrEMBL |
NCBI Gene | 311573 | ENTREZGENE |
PANTHER | CENTROSOMAL PROTEIN 2 | UniProtKB/TrEMBL |
CENTROSOME-ASSOCIATED PROTEIN CEP250 | UniProtKB/TrEMBL | |
Pfam | Rootletin | UniProtKB/TrEMBL |
PhenoGen | Cep250 | PhenoGen |
RatGTEx | ENSRNOG00000019340 | RatGTEx |
UniProt | A0A8I6A436_RAT | UniProtKB/TrEMBL |
F1M7J7 | ENTREZGENE, UniProtKB/TrEMBL |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2011-04-27 | Cep250 | centrosomal protein 250 | Cep250 | centrosomal protein 250kDa | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2008-09-29 | Cep250 | centrosomal protein 250kDa | Cep250 | centrosomal protein 250 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2008-02-29 | Cep250 | centrosomal protein 250 | RGD1562262_predicted | similar to centrosomal Nek2-associated protein 1 (predicted) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2006-03-07 | RGD1562262_predicted | similar to centrosomal Nek2-associated protein 1 (predicted) | LOC311573 | similar to centrosomal Nek2-associated protein 1 | Symbol and Name status set to approved | 1299863 | APPROVED |
2006-02-09 | LOC311573 | similar to centrosomal Nek2-associated protein 1 | Symbol and Name status set to provisional | 70820 | PROVISIONAL |