Cep290 (centrosomal protein 290) - Rat Genome Database

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Gene: Cep290 (centrosomal protein 290) Rattus norvegicus
Analyze
Symbol: Cep290
Name: centrosomal protein 290
RGD ID: 1311640
Description: Predicted to enable identical protein binding activity. Predicted to be involved in several processes, including cilium assembly; positive regulation of DNA-templated transcription; and positive regulation of intracellular protein transport. Predicted to act upstream of or within several processes, including determination of left/right symmetry; photoreceptor cell maintenance; and retina development in camera-type eye. Located in ciliary basal body. Human ortholog(s) of this gene implicated in several diseases, including Bardet-Biedl syndrome 14; Joubert syndrome 5; Leber congenital amaurosis 10; Meckel syndrome 4; and Senior-Loken syndrome. Orthologous to human CEP290 (centrosomal protein 290); INTERACTS WITH 6-propyl-2-thiouracil; amitrole; bisphenol A.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: centrosomal protein 290kDa; centrosomal protein of 290 kDa; LOC314787; RGD1311640; similar to Hypothetical protein KIAA0373
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8737,196,765 - 37,285,955 (+)NCBIGRCr8
mRatBN7.2735,310,071 - 35,399,388 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl735,310,199 - 35,399,392 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx737,297,393 - 37,386,598 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0739,470,755 - 39,558,466 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0739,203,959 - 39,291,670 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0740,217,269 - 40,306,327 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl740,217,269 - 40,306,327 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0740,256,312 - 40,344,956 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4738,138,545 - 38,228,716 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1738,159,544 - 38,248,364 (+)NCBI
Celera732,302,859 - 32,391,640 (+)NCBICelera
Cytogenetic Map7q21NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

References

References - curated
# 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. Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Baala L, etal., Am J Hum Genet. 2007 Jul;81(1):170-9. Epub 2007 Jun 4.
3. Natural history of cone disease in the murine model of Leber congenital amaurosis due to CEP290 mutation: determining the timing and expectation of therapy. Boye SE, etal., PLoS One. 2014 Mar 26;9(3):e92928. doi: 10.1371/journal.pone.0092928. eCollection 2014.
4. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Brancati F, etal., Am J Hum Genet. 2007 Jul;81(1):104-13. doi: 10.1086/519026. Epub 2007 May 18.
5. In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse. Chang B, etal., Hum Mol Genet. 2006 Jun 1;15(11):1847-57. Epub 2006 Apr 21.
6. Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. den Hollander AI, etal., Am J Hum Genet. 2006 Sep;79(3):556-61. Epub 2006 Jul 11.
7. FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies. Di Gioia SA, etal., Hum Mol Genet. 2012 Dec 1;21(23):5174-84. doi: 10.1093/hmg/dds368. Epub 2012 Sep 1.
8. Prospective Evaluation of Kidney Disease in Joubert Syndrome. Fleming LR, etal., Clin J Am Soc Nephrol. 2017 Dec 7;12(12):1962-1973. doi: 10.2215/CJN.05660517. Epub 2017 Nov 16.
9. Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. Frank V, etal., Hum Mutat. 2008 Jan;29(1):45-52.
10. 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.
11. Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Loken syndrome. Helou J, etal., J Med Genet. 2007 Oct;44(10):657-63. Epub 2007 Jul 6.
12. Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons. McEwen DP, etal., Proc Natl Acad Sci U S A. 2007 Oct 2;104(40):15917-22. Epub 2007 Sep 26.
13. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
14. Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. Perrault I, etal., Hum Mutat. 2007 Apr;28(4):416.
15. Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR. Rao KN, etal., Hum Mol Genet. 2016 Mar 2. pii: ddw075.
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. Comprehensive gene review and curation RGD comprehensive gene curation
19. Molecular genetic analysis of 30 families with Joubert syndrome. Suzuki T, etal., Clin Genet. 2016 Dec;90(6):526-535. doi: 10.1111/cge.12836. Epub 2016 Sep 26.
20. High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations. Tory K, etal., J Am Soc Nephrol. 2007 May;18(5):1566-75. Epub 2007 Apr 4.
21. Frequency of CEP290 c.2991_1655A>G mutation in 175 Spanish families affected with Leber congenital amaurosis and early-onset retinitis pigmentosa. Vallespin E, etal., Mol Vis. 2007 Nov 27;13:2160-2.
Additional References at PubMed
PMID:14654843   PMID:16682973   PMID:18723859   PMID:19946888   PMID:21052544   PMID:21399614   PMID:21565611   PMID:21725307   PMID:22446187   PMID:22797915   PMID:22832925   PMID:23943788  
PMID:24415959   PMID:24421332   PMID:24469809   PMID:24550735   PMID:24648492   PMID:24927541   PMID:25807483   PMID:26386044   PMID:27623382   PMID:27979967   PMID:29487109   PMID:29899041  


Genomics

Comparative Map Data
Cep290
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8737,196,765 - 37,285,955 (+)NCBIGRCr8
mRatBN7.2735,310,071 - 35,399,388 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl735,310,199 - 35,399,392 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx737,297,393 - 37,386,598 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0739,470,755 - 39,558,466 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0739,203,959 - 39,291,670 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0740,217,269 - 40,306,327 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl740,217,269 - 40,306,327 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0740,256,312 - 40,344,956 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4738,138,545 - 38,228,716 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1738,159,544 - 38,248,364 (+)NCBI
Celera732,302,859 - 32,391,640 (+)NCBICelera
Cytogenetic Map7q21NCBI
CEP290
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381288,049,016 - 88,142,088 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1288,049,016 - 88,142,099 (-)EnsemblGRCh38hg38GRCh38
GRCh371288,442,793 - 88,535,865 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361286,966,921 - 87,060,124 (-)NCBINCBI36Build 36hg18NCBI36
Celera1288,110,804 - 88,204,074 (-)NCBICelera
Cytogenetic Map12q21.32NCBI
HuRef1285,509,678 - 85,602,945 (-)NCBIHuRef
CHM1_11288,407,817 - 88,501,072 (-)NCBICHM1_1
T2T-CHM13v2.01288,030,894 - 88,124,030 (-)NCBIT2T-CHM13v2.0
Cep290
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3910100,323,410 - 100,409,527 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl10100,323,420 - 100,410,702 (+)EnsemblGRCm39 Ensembl
GRCm3810100,487,548 - 100,575,671 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl10100,487,558 - 100,574,840 (+)EnsemblGRCm38mm10GRCm38
MGSCv371099,950,923 - 100,036,289 (+)NCBIGRCm37MGSCv37mm9NCBIm37
Celera10102,420,230 - 102,505,600 (+)NCBICelera
Cytogenetic Map10D1NCBI
cM Map1051.48NCBI
Cep290
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540525,533,525 - 25,606,212 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540525,533,037 - 25,607,021 (-)NCBIChiLan1.0ChiLan1.0
CEP290
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21096,088,993 - 96,181,939 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11296,084,936 - 96,178,417 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01285,589,911 - 85,683,365 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11288,896,146 - 88,988,953 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1288,896,146 - 88,988,044 (-)Ensemblpanpan1.1panPan2
CEP290
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11529,194,449 - 29,281,351 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1529,194,983 - 29,280,429 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1529,645,468 - 29,732,097 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01529,831,711 - 29,918,554 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1529,832,248 - 29,918,662 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11529,150,640 - 29,237,164 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01529,209,981 - 29,296,506 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01529,492,991 - 29,579,893 (-)NCBIUU_Cfam_GSD_1.0
Cep290
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494530,930,005 - 31,012,005 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365075,221,910 - 5,305,422 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365075,223,756 - 5,305,392 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CEP290
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl594,384,415 - 94,474,335 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1594,384,397 - 94,474,337 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2599,071,072 - 99,161,124 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CEP290
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11183,420,911 - 83,515,466 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1183,412,379 - 83,514,596 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037161,755,432 - 161,850,040 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cep290
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248377,054,813 - 7,138,097 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248377,054,659 - 7,138,840 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Cep290
235 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:43
Count of miRNA genes:36
Interacting mature miRNAs:39
Transcripts:ENSRNOT00000038631
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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.


QTLs in Region (mRatBN7.2)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2317047Wbc4White blood cell count QTL 40.01leukocyte quantity (VT:0000217)white blood cell count (CMO:0000027)7135342956Rat
61410Bw19Body weight QTL 196.20.001body mass (VT:0001259)body weight (CMO:0000012)7144782185Rat
631503Bp102Blood pressure QTL 1021.9arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)7144822433Rat
634336Anxrr17Anxiety related response QTL 173.66locomotor behavior trait (VT:0001392)number of entries into a discrete space in an experimental apparatus (CMO:0000960)7924703115097879Rat
10755438Coatc9Coat color QTL 90coat/hair pigmentation trait (VT:0010463)pigmented ventral coat/hair area to total ventral coat/hair area ratio (CMO:0001812)7352928048529280Rat
9590102Sffal5Serum free fatty acids level QTL 58.620.001blood free fatty acid amount (VT:0001553)plasma free fatty acids level (CMO:0000546)7532901950329019Rat
10755440Coatc10Coat color QTL 100coat/hair pigmentation trait (VT:0010463)pigmented ventral coat/hair area to total ventral coat/hair area ratio (CMO:0001812)7749649952496499Rat
10059592Kidm45Kidney mass QTL 453.950.025kidney mass (VT:0002707)both kidneys wet weight to body weight ratio (CMO:0000340)7757398552573985Rat
2298547Neuinf5Neuroinflammation QTL 53.7nervous system integrity trait (VT:0010566)spinal cord Cd74 protein level (CMO:0002131)7946224658265113Rat
1643004Pain2Pain QTL 21mechanical nociception trait (VT:0002734)self mutilation severity score (CMO:0002145)7946224698011544Rat
1578652Bmd15Bone mineral density QTL 155.2femur mineral mass (VT:0010011)trabecular volumetric bone mineral density (CMO:0001729)7986646760460686Rat
738033Anxrr6Anxiety related response QTL 64.1exploratory behavior trait (VT:0010471)percentage of entries into a discrete space in an experimental apparatus (CMO:0000961)71557388960573889Rat
1582260Bw72Body weight QTL 723.20.0043body mass (VT:0001259)body weight (CMO:0000012)71579556538073970Rat
1582261Bw69Body weight QTL 693.20.0048body mass (VT:0001259)body weight (CMO:0000012)71579556538073970Rat
1582262Bw75Body weight QTL 7530.0038body mass (VT:0001259)body weight (CMO:0000012)71579556538073970Rat
2317059Aia15Adjuvant induced arthritis QTL 152.46joint integrity trait (VT:0010548)right rear ankle joint diameter (CMO:0002150)71700459862004598Rat
10755451Coatc11Coat color QTL 110coat/hair pigmentation trait (VT:0010463)pigmented ventral coat/hair area to total ventral coat/hair area ratio (CMO:0001812)71794435762944357Rat
61369Mcs2Mammary carcinoma susceptibility QTL 23.38mammary gland integrity trait (VT:0010552)mammary tumor number (CMO:0000343)71903280735526300Rat
1354637Scl30Serum cholesterol level QTL 303.7blood cholesterol amount (VT:0000180)blood total cholesterol level (CMO:0000051)71965431749753746Rat
1354644Spl4Serum phospholipid level QTL 44.9blood phospholipid amount (VT:0006084)blood phospholipid level (CMO:0001169)71965431749753746Rat
1354639Spl5Serum phospholipid level QTL 53.9blood LDL phospholipid amount (VT:0010505)blood low density lipoprotein phospholipid level (CMO:0001568)71965431752888450Rat
1300132Bp182Blood pressure QTL 1823.49arterial blood pressure trait (VT:2000000)blood pressure time series experimental set point of the baroreceptor response (CMO:0002593)71965431784928080Rat
7411569Bw137Body weight QTL 1370.001body mass (VT:0001259)body weight gain (CMO:0000420)72192119566921195Rat
1641885Alcrsp9Alcohol response QTL 9alcohol metabolism trait (VT:0015089)blood ethanol level (CMO:0000535)72409960669099606Rat
1549840Bss5Bone structure and strength QTL 59.8femur strength trait (VT:0010010)femur midshaft polar moment of inertia (CMO:0001669)72475184169751841Rat
70190Mcs6Mammary carcinoma susceptibility QTL 62.29mammary gland integrity trait (VT:0010552)mammary tumor number (CMO:0000343)72673740163902784Rat
1300138Hrtrt9Heart rate QTL 94.72heart pumping trait (VT:2000009)heart rate (CMO:0000002)72940968353612950Rat
10402855Bp379Blood pressure QTL 3790.21arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)72940968374409683Rat
1300127Srn1Serum renin concentration QTL 13.87blood renin amount (VT:0003349)plasma renin activity level (CMO:0000116)72940968384928080Rat
10755453Coatc12Coat color QTL 120coat/hair pigmentation trait (VT:0010463)pigmented ventral coat/hair area to total ventral coat/hair area ratio (CMO:0001812)73111283276112832Rat
7411605Foco14Food consumption QTL 1424.10.001eating behavior trait (VT:0001431)feed conversion ratio (CMO:0001312)73429328279293282Rat
631534Lnnr1Liver neoplastic nodule remodeling QTL 13.850.001liver integrity trait (VT:0010547)liver remodeling tumorous lesion number to liver total tumorous lesion number ratio (CMO:0001705)73429328279293282Rat

Markers in Region
AU028886  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2735,394,076 - 35,394,253 (+)MAPPERmRatBN7.2
Rnor_6.0740,301,012 - 40,301,188NCBIRnor6.0
Rnor_5.0740,339,641 - 40,339,817UniSTSRnor5.0
RGSC_v3.4738,223,401 - 38,223,577UniSTSRGSC3.4
Celera732,386,325 - 32,386,501UniSTS
Cytogenetic Map7q13UniSTS
RH132679  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2735,398,114 - 35,398,294 (+)MAPPERmRatBN7.2
Rnor_6.0740,305,050 - 40,305,229NCBIRnor6.0
Rnor_5.0740,343,679 - 40,343,858UniSTSRnor5.0
RGSC_v3.4738,227,439 - 38,227,618UniSTSRGSC3.4
Celera732,390,363 - 32,390,542UniSTS
RH 3.4 Map9782.19UniSTS
Cytogenetic Map7q13UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

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 10 4 7 4 53 10 33 7
Low 3 42 46 36 12 36 8 10 21 25 8 4 8
Below cutoff 1 1 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001135755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001401003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017594842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017594843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017594844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_039079085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_039079086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_039079087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_039079088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_039079089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_039079090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_039079091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_039079092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_039079094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_063263467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_063263468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_005486624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_005486625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC112552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH473960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JAXUCZ010000007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENSRNOT00000082090   ⟹   ENSRNOP00000074021
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl735,310,199 - 35,399,392 (+)Ensembl
Rnor_6.0 Ensembl740,217,269 - 40,306,327 (+)Ensembl
RefSeq Acc Id: ENSRNOT00000085684   ⟹   ENSRNOP00000074837
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl735,310,199 - 35,399,392 (+)Ensembl
Rnor_6.0 Ensembl740,217,991 - 40,305,928 (+)Ensembl
RefSeq Acc Id: ENSRNOT00000101678   ⟹   ENSRNOP00000083059
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl735,310,199 - 35,399,392 (+)Ensembl
RefSeq Acc Id: NM_001135755   ⟹   NP_001129227
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8737,196,783 - 37,285,955 (+)NCBI
mRatBN7.2735,310,214 - 35,399,388 (+)NCBI
Rnor_6.0740,217,269 - 40,306,327 (+)NCBI
Rnor_5.0740,256,312 - 40,344,956 (+)NCBI
RGSC_v3.4738,138,545 - 38,228,716 (+)RGD
Celera732,302,859 - 32,391,640 (+)RGD
Sequence:
RefSeq Acc Id: NM_001401003   ⟹   NP_001387932
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8737,196,783 - 37,285,955 (+)NCBI
mRatBN7.2735,310,214 - 35,399,388 (+)NCBI
RefSeq Acc Id: XM_017594843   ⟹   XP_017450332
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8737,196,815 - 37,285,501 (+)NCBI
mRatBN7.2735,310,078 - 35,399,286 (+)NCBI
Rnor_6.0740,217,367 - 40,305,869 (+)NCBI
Sequence:
RefSeq Acc Id: XM_039079085   ⟹   XP_038935013
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8737,196,765 - 37,285,859 (+)NCBI
mRatBN7.2735,310,077 - 35,399,286 (+)NCBI
RefSeq Acc Id: XM_039079086   ⟹   XP_038935014
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8737,196,815 - 37,285,859 (+)NCBI
mRatBN7.2735,310,077 - 35,399,286 (+)NCBI
RefSeq Acc Id: XM_039079087   ⟹   XP_038935015
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8737,196,815 - 37,285,859 (+)NCBI
mRatBN7.2735,310,076 - 35,399,286 (+)NCBI
RefSeq Acc Id: XM_039079088   ⟹   XP_038935016
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8737,196,815 - 37,284,947 (+)NCBI
mRatBN7.2735,310,077 - 35,398,314 (+)NCBI
RefSeq Acc Id: XM_039079089   ⟹   XP_038935017
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8737,196,815 - 37,284,947 (+)NCBI
mRatBN7.2735,310,078 - 35,398,314 (+)NCBI
RefSeq Acc Id: XM_039079090   ⟹   XP_038935018
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8737,196,815 - 37,285,501 (+)NCBI
mRatBN7.2735,310,079 - 35,399,286 (+)NCBI
RefSeq Acc Id: XM_039079091   ⟹   XP_038935019
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8737,196,815 - 37,285,501 (+)NCBI
mRatBN7.2735,310,079 - 35,399,286 (+)NCBI
RefSeq Acc Id: XM_039079092   ⟹   XP_038935020
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8737,196,815 - 37,285,501 (+)NCBI
mRatBN7.2735,310,080 - 35,399,292 (+)NCBI
RefSeq Acc Id: XM_039079094   ⟹   XP_038935022
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8737,234,126 - 37,285,501 (+)NCBI
mRatBN7.2735,347,531 - 35,399,286 (+)NCBI
RefSeq Acc Id: XM_063263467   ⟹   XP_063119537
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8737,196,815 - 37,285,501 (+)NCBI
RefSeq Acc Id: XM_063263468   ⟹   XP_063119538
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8737,196,815 - 37,285,239 (+)NCBI
RefSeq Acc Id: XR_005486624
Type: NON-CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8737,196,815 - 37,281,450 (+)NCBI
mRatBN7.2735,310,077 - 35,394,885 (+)NCBI
RefSeq Acc Id: XR_005486625
Type: NON-CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8737,196,815 - 37,251,322 (+)NCBI
mRatBN7.2735,310,071 - 35,365,276 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001129227   ⟸   NM_001135755
- Peptide Label: isoform 2
- UniProtKB: A0A0G2K715 (UniProtKB/TrEMBL),   A0A8I5ZYJ8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_017450332   ⟸   XM_017594843
- Peptide Label: isoform X2
- UniProtKB: A0A0G2K929 (UniProtKB/TrEMBL),   A0A8I5ZYJ8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSRNOP00000074021   ⟸   ENSRNOT00000082090
RefSeq Acc Id: ENSRNOP00000074837   ⟸   ENSRNOT00000085684
RefSeq Acc Id: XP_038935015   ⟸   XM_039079087
- Peptide Label: isoform X4
- UniProtKB: A0A8I5ZYJ8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038935013   ⟸   XM_039079085
- Peptide Label: isoform X1
- UniProtKB: A0A8I5ZYJ8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038935014   ⟸   XM_039079086
- Peptide Label: isoform X3
- UniProtKB: A0A8I5ZYJ8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038935016   ⟸   XM_039079088
- Peptide Label: isoform X6
- UniProtKB: A0A8I5ZYJ8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038935017   ⟸   XM_039079089
- Peptide Label: isoform X7
- UniProtKB: A0A8I5ZYJ8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038935018   ⟸   XM_039079090
- Peptide Label: isoform X8
- UniProtKB: A0A8I5ZYJ8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038935019   ⟸   XM_039079091
- Peptide Label: isoform X9
- UniProtKB: A0A8I5ZYJ8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038935020   ⟸   XM_039079092
- Peptide Label: isoform X10
- UniProtKB: A0A8I5ZYJ8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038935022   ⟸   XM_039079094
- Peptide Label: isoform X11
RefSeq Acc Id: ENSRNOP00000083059   ⟸   ENSRNOT00000101678
RefSeq Acc Id: NP_001387932   ⟸   NM_001401003
- Peptide Label: isoform 1
RefSeq Acc Id: XP_063119537   ⟸   XM_063263467
- Peptide Label: isoform X5
RefSeq Acc Id: XP_063119538   ⟸   XM_063263468
- Peptide Label: isoform X6
Protein Domains
Centrosomal protein of 290kDa coiled-coil region

Transcriptome

eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen


Additional Information

Database Acc Id Source(s)
AGR Gene RGD:1311640 AgrOrtholog
BioCyc Gene G2FUF-34235 BioCyc
Ensembl Genes ENSRNOG00000056458 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000082090 ENTREZGENE
  ENSRNOT00000082090.2 UniProtKB/TrEMBL
  ENSRNOT00000085684.2 UniProtKB/TrEMBL
  ENSRNOT00000101678.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.5.1700 UniProtKB/TrEMBL
InterPro Cep209_CC5 UniProtKB/TrEMBL
  Cep290 UniProtKB/TrEMBL
KEGG Report rno:314787 UniProtKB/TrEMBL
NCBI Gene 314787 ENTREZGENE
PANTHER CENTROSOMAL PROTEIN OF 290 KDA UniProtKB/TrEMBL
  PTHR18879 UniProtKB/TrEMBL
Pfam CEP209_CC5 UniProtKB/TrEMBL
PhenoGen Cep290 PhenoGen
RatGTEx ENSRNOG00000056458 RatGTEx
UniProt A0A0G2K715 ENTREZGENE, UniProtKB/TrEMBL
  A0A0G2K929 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5ZYJ8 ENTREZGENE, UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2008-12-01 Cep290  centrosomal protein 290  RGD1311640  similar to Hypothetical protein KIAA0373   Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2008-04-30 RGD1311640  similar to Hypothetical protein KIAA0373   RGD1311640_predicted  similar to Hypothetical protein KIAA0373 (predicted)  'predicted' is removed 2292626 APPROVED
2005-01-20 RGD1311640_predicted  similar to Hypothetical protein KIAA0373 (predicted)  LOC314787_predicted    Symbol and Name status set to approved 1331353 APPROVED
2005-01-12 LOC314787_predicted  similar to Hypothetical protein KIAA0373 (predicted)      Symbol and Name status set to provisional 70820 PROVISIONAL