Cep290 (centrosomal protein 290) - Rat Genome Database

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Gene: Cep290 (centrosomal protein 290) Mus musculus
Analyze
Symbol: Cep290
Name: centrosomal protein 290
RGD ID: 1323204
MGI Page MGI
Description: Predicted to enable identical protein binding activity. Involved in cilium assembly; microtubule cytoskeleton organization; and protein transport. Acts upstream of or within several processes, including cilium assembly; photoreceptor cell maintenance; and retina development in camera-type eye. Located in microtubule organizing center and photoreceptor cell cilium. Part of MKS complex. Is active in rod photoreceptor outer segment. Used to study Joubert syndrome 5; Leber congenital amaurosis 10; cystic kidney disease; and visceral heterotaxy. Human ortholog(s) of this gene implicated in 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).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: b2b1454C; b2b1454Clo; b2b1752C; b2b1752Clo; Bardet-Biedl syndrome 14 protein homolog; BC004690; centrosomal protein of 290 kDa; MGC7859; nephrocystin-6; Np; Nphp6
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
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
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
abnormal blood vessel morphology  (IEA)
abnormal cell morphology  (IAGP)
abnormal cell nucleus morphology  (IAGP)
abnormal cerebellum morphology  (IAGP)
abnormal cerebellum vermis morphology  (IAGP)
abnormal cerebral hemisphere morphology  (IAGP)
abnormal cone electrophysiology  (IAGP)
abnormal DNA replication  (IAGP)
abnormal double-strand DNA break repair  (IAGP)
abnormal facial morphology  (IEA)
abnormal head shape  (IEA)
abnormal inferior vena cava morphology  (IEA)
abnormal kidney collecting duct morphology  (IAGP)
abnormal olfactory epithelium morphology  (IAGP)
abnormal photoreceptor outer segment morphology  (IAGP)
abnormal renal tubule epithelial cell primary cilium morphology  (IAGP)
abnormal retina photoreceptor morphology  (IAGP)
abnormal retina pigment epithelium morphology  (IAGP)
abnormal rod electrophysiology  (IAGP)
absent kidney epithelial cell primary cilium  (IAGP)
accessory spleen  (IEA)
anosmia  (IAGP)
atrial septal defect  (IEA)
atrioventricular septal defect  (IEA)
d-loop transposition of the great arteries  (IEA)
decreased body size  (IAGP)
decreased mean corpuscular hemoglobin concentration  (IEA)
double outlet right ventricle  (IEA)
dual inferior vena cava  (IEA)
female infertility  (IEA)
hemorrhage  (IEA)
heterotaxia  (IEA)
hydrocephaly  (IAGP)
inlet ventricular septal defect  (IEA)
kidney cortex cyst  (IAGP)
kidney cyst  (IAGP)
left-sided isomerism  (IEA)
male infertility  (IEA)
micrognathia  (IEA)
no abnormal phenotype detected  (IAGP)
no spontaneous movement  (IEA)
photoreceptor inner segment degeneration  (IAGP)
photoreceptor outer segment degeneration  (IAGP)
polycystic kidney  (IEA)
polydipsia  (IAGP)
polyuria  (IAGP)
prenatal lethality, incomplete penetrance  (IAGP)
preweaning lethality, incomplete penetrance  (IEA)
reduced cerebellar foliation  (IAGP)
renal glomerulus cyst  (IEA)
retina cone cell degeneration  (IAGP)
retina degeneration  (IAGP)
retina outer nuclear layer degeneration  (IAGP)
retina photoreceptor degeneration  (IAGP)
retina rod cell degeneration  (IAGP)
retina spots  (IAGP)
short photoreceptor outer segment  (IAGP)
slow postnatal weight gain  (IEA)
spleen hypoplasia  (IEA)
thin retina outer nuclear layer  (IAGP)
ventricular septal defect  (IEA)
References

References - curated
# Reference Title Reference Citation
1. 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.
2. 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.
3. 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.
4. Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. Frank V, etal., Hum Mutat. 2008 Jan;29(1):45-52.
5. 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.
6. 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.
7. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
8. 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.
9. 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.
10. Mouse MP Annotation Import Pipeline RGD automated import pipeline
11. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
12. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
13. 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.
14. 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:10349636   PMID:11042159   PMID:11076861   PMID:11217851   PMID:12466851   PMID:12477932   PMID:12520002   PMID:15368895   PMID:16141072   PMID:16141073   PMID:16332269   PMID:16602821  
PMID:16682970   PMID:16682973   PMID:17920017   PMID:18694559   PMID:18772192   PMID:21052544   PMID:21245082   PMID:21267068   PMID:21565611   PMID:21623382   PMID:21655357   PMID:21685394  
PMID:21725307   PMID:21873635   PMID:21956870   PMID:22446187   PMID:22832925   PMID:23644468   PMID:23943788   PMID:24051377   PMID:24223178   PMID:24356449   PMID:24415959   PMID:24421332  
PMID:24457600   PMID:24469809   PMID:24927541   PMID:24946806   PMID:25125607   PMID:25761237   PMID:25807483   PMID:25859007   PMID:26139610   PMID:26301811   PMID:26305532   PMID:26496610  
PMID:26594343   PMID:26747773   PMID:27002738   PMID:27150101   PMID:27328943   PMID:27979967   PMID:28679290   PMID:29038301   PMID:29487109   PMID:29706649   PMID:29899041   PMID:30035750  
PMID:30195768   PMID:30332642   PMID:30446612   PMID:31138784   PMID:31302159   PMID:31694913   PMID:31747684   PMID:31879347   PMID:32290105   PMID:32325033   PMID:33625872   PMID:33961633  
PMID:34215725   PMID:34520396  


Genomics

Comparative Map Data
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
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381288,049,016 - 88,142,088 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 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
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2735,310,071 - 35,399,392 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl735,310,199 - 35,399,392 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx737,297,393 - 37,386,598 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0739,470,755 - 39,558,466 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0739,203,959 - 39,291,670 (+)NCBIRnor_WKY
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 Map7q13NCBI
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_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 (-)EnsemblSpeTri2.0
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
746 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:85
Count of miRNA genes:74
Interacting mature miRNAs:82
Transcripts:ENSMUST00000164751
Prediction methods:Miranda, 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 (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1357740Obsty3_mobesity 3 (mouse)Not determined108235478116190980Mouse
1302067Scc9_mcolon tumor susceptibility 9 (mouse)Not determined1018259333125575232Mouse
27226772Tibl13_mtibia length 13, 10 week (mouse)1018875748129635869Mouse
1558757Eae34_mexperimental allergic encephalomyelitis susceptibility 34 (mouse)Not determined1021408154114217230Mouse
26884426Cvht1_mcranial vault height 1, 5 week (mouse)1024675898121035905Mouse
27095911Pglq15_mpelvic girdle length QTL 15, 16 week (mouse)1039175996129635869Mouse
27226764Tibl19_mtibia length 19, 16 week (mouse)1039175996129635869Mouse
26884411Bzwq8_mbi-zygomatic width QTL 8, 10 week (mouse)1044876096115935905Mouse
26884407Bzwq14_mbi-zygomatic width QTL 14, 16 wee (mouse)1045476096120635905Mouse
26884450Sklq15_mskull length QTL 15, 16 week (mouse)1059335822122335905Mouse
13208560Wght9_mweight 9 (mouse)1059835822120835905Mouse
26884424Zlq9_mzygomatic length QTL 9, 16 week (mouse)1063935779115935905Mouse
26884447Sklq9_mskull length QTL 9, 10 week (mouse)1067335830111735905Mouse
26884430Zlq5_mzygomatic length QTL 5, 10 week (mouse)1067835830124835905Mouse
26884405Huml2_mhumerus length 2, 5 week (mouse)1069735830130430862Mouse
11039497Ltpr5a_mLeishmania tropica response 5a (mouse)1073506901107507047Mouse
11353832Pcholq4_mplasma cholesterol QTL 4 (mouse)1073987216125515907Mouse
11353843Gluq1_mblood glucose QTL 1 (mouse)1073987216125515907Mouse
1357632Vtbt9_mvertebral trabecular bone trait 9 (mouse)Not determined1075338568109338767Mouse
4142137Femwf3_mfemur work to failure 3 (mouse)Not determined75338568109338767Mouse
1300975Fembrs3_mfemur breaking strength 3 (mouse)Not determined1075338568109338767Mouse
11251717Siim1_mstress induced immobility 1 (mouse)1078381268112381268Mouse
14747004Mancz8_mmandible centroid size 8 (mouse)1082078412116078412Mouse
11059554Lmr32e_mleishmaniasis resistance 32e (mouse)1082309418116309657Mouse
11059555Lmr32f_mleishmaniasis resistance 32f (mouse)1082309418116309657Mouse
11059550Lmr32a_mleishmaniasis resistance 32a (mouse)1082309418116309657Mouse
11059551Lmr32b_mleishmaniasis resistance 32b (mouse)1082309418116309657Mouse
11059553Lmr32d_mleishmaniasis resistance 32d (mouse)1082309418116309657Mouse
1301165Lith7_mlithogenic gene 7 (mouse)Not determined1082309418116309657Mouse
10043881Adip24_madiposity 24 (mouse)Not determined1082392803116392952Mouse
4141054mwfh_mmodifier of white forlock hypopigmentation (mouse)Not determined83017003117017136Mouse
1357594Estoq3_membryo survival total QTL 3 (mouse)Not determined1084079650122041528Mouse
1357622Espq3_membryo survival preimplantation QTL 3 (mouse)Not determined1084079650122041528Mouse
4141479W10q8_mweight 10 weeks QTL 8 (mouse)Not determined84079650122041528Mouse
4142496W6q8_mweight 6 weeks QTL 8 (mouse)Not determined84079650122041528Mouse
4141387Lgaq5_mlate growth adjusted QTL 5 (mouse)Not determined84079650122041528Mouse
4142365Egq9_mearly growth QTL 9 (mouse)Not determined84079650122041528Mouse
1357779Tesq3_mtestis weight QTL 3 (mouse)Not determined1084079650122041528Mouse
1357638Cia29_mcollagen induced arthritis 29 (mouse)Not determined1085454982118497353Mouse
1300797Sluc22_msusceptibility to lung cancer 22 (mouse)Not determined1086713608120713756Mouse
1300908Insq4_minsulin QTL 4 (mouse)Not determined1086909085120909229Mouse
1301520Uvbi1_mUVB induced immunosuppression 1 (mouse)Not determined1086909085120909229Mouse
1300921Skl4_mskeletal size (tail length) 4 (mouse)Not determined1088088254122088391Mouse
4142386Tgq20_mtriglyceride QTL 20 (mouse)Not determined88836456122836456Mouse
1301758Fcsa3_mfemoral cross-sectional area 3 (mouse)Not determined1089927651123927754Mouse
11039516Ltpr5_mLeishmania tropica response 5 (mouse)1090506901125575232Mouse
13208554Lgth11_mbody length 11 (mouse)1090835862120835905Mouse
1302162Ednrbm1_mendothelin receptor type B modifier 1 (mouse)Not determined1092127383103713756Mouse
12910821Ogrq4_moverall growth rate QTL 4 (mouse)1092169056107319989Mouse
4142074Tmevp2_mTheiler's murine encephalomyelitis virus persistence 2 (mouse)Not determined92729941111568319Mouse
1357544Vtbt10_mvertebral trabecular bone trait 10 (mouse)Not determined1097217101130530862Mouse
4142461Bmd25_mbone mineral density 25 (mouse)Not determined1097217101130530862Mouse
11533919Mvb4_mmodifier of vibrator 4 (mouse)397217101130530862Mouse
11533921Mvb2_mmodifier of vibrator 2 (mouse)1097217101130530862Mouse
12880413V125Dq9_mvitamin D active form serum level QTL 9 (mouse)1097535905130530862Mouse
4141402T2dm1sa_mtype 2 diabetes mellitus 1 in SMXA RI mice (mouse)Not determined97758644130530862Mouse
11040593Lmr5e_mleishmaniasis resistance 5e (mouse)1099220635130530862Mouse
11040595Lmr5c_mleishmaniasis resistance 5c (mouse)1099220635130530862Mouse
11040597Lmr5a_mleishmaniasis resistance 5a (mouse)1099220635130530862Mouse
11059552Lmr32c_mleishmaniasis resistance 32c (mouse)1099309418116220862Mouse
11059544Lmr32_mleishmaniasis resistance 32 (mouse)1099309418116220862Mouse

Markers in Region
AW551239  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm3810100,572,481 - 100,572,569UniSTSGRCm38
MGSCv3710100,035,115 - 100,035,203UniSTSGRCm37
Celera10102,504,426 - 102,504,514UniSTS
Cytogenetic Map10D1UniSTS
cM Map1059.0UniSTS
Whitehead/MRC_RH101120.79UniSTS
UniSTS:225138  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm3810100,551,222 - 100,551,417UniSTSGRCm38
MGSCv3710100,013,856 - 100,014,051UniSTSGRCm37
Celera10102,483,134 - 102,483,329UniSTS
Cytogenetic Map10D1UniSTS
cM Map1059.0UniSTS


Expression


Sequence


Reference Sequences
RefSeq Acc Id: ENSMUST00000164751   ⟹   ENSMUSP00000130899
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl10100,324,151 - 100,409,517 (+)Ensembl
GRCm38.p6 Ensembl10100,488,289 - 100,573,655 (+)Ensembl
RefSeq Acc Id: ENSMUST00000218000
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl10100,384,726 - 100,403,121 (+)Ensembl
GRCm38.p6 Ensembl10100,548,864 - 100,567,259 (+)Ensembl
RefSeq Acc Id: ENSMUST00000218703
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl10100,376,316 - 100,380,992 (+)Ensembl
GRCm38.p6 Ensembl10100,540,454 - 100,545,130 (+)Ensembl
RefSeq Acc Id: ENSMUST00000219408   ⟹   ENSMUSP00000151414
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl10100,378,303 - 100,382,915 (+)Ensembl
GRCm38.p6 Ensembl10100,542,441 - 100,547,053 (+)Ensembl
RefSeq Acc Id: ENSMUST00000219643
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl10100,380,287 - 100,409,243 (+)Ensembl
GRCm38.p6 Ensembl10100,544,425 - 100,573,381 (+)Ensembl
RefSeq Acc Id: ENSMUST00000219765   ⟹   ENSMUSP00000151712
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl10100,324,151 - 100,409,517 (+)Ensembl
GRCm38.p6 Ensembl10100,488,289 - 100,573,655 (+)Ensembl
RefSeq Acc Id: ENSMUST00000219889
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl10100,407,796 - 100,410,702 (+)Ensembl
GRCm38.p6 Ensembl10100,571,934 - 100,574,840 (+)Ensembl
RefSeq Acc Id: ENSMUST00000220231
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl10100,334,193 - 100,336,057 (+)Ensembl
GRCm38.p6 Ensembl10100,498,331 - 100,500,195 (+)Ensembl
RefSeq Acc Id: ENSMUST00000220331
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl10100,344,588 - 100,348,207 (+)Ensembl
GRCm38.p6 Ensembl10100,508,726 - 100,512,345 (+)Ensembl
RefSeq Acc Id: ENSMUST00000220346   ⟹   ENSMUSP00000151388
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl10100,323,420 - 100,409,517 (+)Ensembl
GRCm38.p6 Ensembl10100,487,558 - 100,573,655 (+)Ensembl
RefSeq Acc Id: NM_001400997   ⟹   NP_001387926
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm3910100,323,444 - 100,409,518 (+)NCBI
RefSeq Acc Id: NM_146009   ⟹   NP_666121
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm3910100,323,444 - 100,409,518 (+)NCBI
GRCm3810100,487,582 - 100,575,671 (+)NCBI
MGSCv371099,950,923 - 100,036,289 (+)RGD
Celera10102,420,230 - 102,505,600 (+)RGD
cM Map10 ENTREZGENE
Sequence:
RefSeq Acc Id: XM_006513526   ⟹   XP_006513589
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm3910100,323,410 - 100,409,527 (+)NCBI
GRCm3810100,487,548 - 100,573,656 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006513527   ⟹   XP_006513590
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm3910100,323,410 - 100,409,527 (+)NCBI
GRCm3810100,487,548 - 100,573,656 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006513528   ⟹   XP_006513591
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm3910100,323,410 - 100,409,527 (+)NCBI
GRCm3810100,487,548 - 100,573,656 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_666121   ⟸   NM_146009
- Peptide Label: isoform 2
- UniProtKB: Q6A078 (UniProtKB/Swiss-Prot),   E9Q9M0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006513589   ⟸   XM_006513526
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_006513590   ⟸   XM_006513527
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_006513591   ⟸   XM_006513528
- Peptide Label: isoform X3
- UniProtKB: Q8BIB8 (UniProtKB/Swiss-Prot),   Q6A078 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSMUSP00000130899   ⟸   ENSMUST00000164751
RefSeq Acc Id: ENSMUSP00000151414   ⟸   ENSMUST00000219408
RefSeq Acc Id: ENSMUSP00000151712   ⟸   ENSMUST00000219765
RefSeq Acc Id: ENSMUSP00000151388   ⟸   ENSMUST00000220346
RefSeq Acc Id: NP_001387926   ⟸   NM_001400997
- Peptide Label: isoform 1
Protein Domains
Centrosomal protein of 290kDa coiled-coil region

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6A078-F1-model_v2 AlphaFold Q6A078 1-2472 view protein structure

Promoters
RGD ID:8673172
Promoter ID:EPDNEW_M14617
Type:initiation region
Name:Cep290_1
Description:Mus musculus centrosomal protein 290 , mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm3810100,544,419 - 100,544,479EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:2384917 AgrOrtholog
Ensembl Genes ENSMUSG00000019971 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSMUSP00000130899.2 UniProtKB/TrEMBL
  ENSMUSP00000151388 ENTREZGENE
  ENSMUSP00000151388.2 UniProtKB/TrEMBL
  ENSMUSP00000151414.2 UniProtKB/TrEMBL
  ENSMUSP00000151712 ENTREZGENE
  ENSMUSP00000151712.2 UniProtKB/Swiss-Prot
Ensembl Transcript ENSMUST00000164751.2 UniProtKB/TrEMBL
  ENSMUST00000219408.2 UniProtKB/TrEMBL
  ENSMUST00000219765 ENTREZGENE
  ENSMUST00000219765.2 UniProtKB/Swiss-Prot
  ENSMUST00000220346 ENTREZGENE
  ENSMUST00000220346.2 UniProtKB/TrEMBL
InterPro Cep209_CC5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cep290 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report mmu:216274 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
MGD MGI:2384917 ENTREZGENE
NCBI Gene 216274 ENTREZGENE
PANTHER CENTROSOMAL PROTEIN OF 290 KDA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR18879 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CEP209_CC5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Cep290 PhenoGen
UniProt A0A1W2P6U7_MOUSE UniProtKB/TrEMBL
  CE290_MOUSE UniProtKB/Swiss-Prot
  E9Q9M0 ENTREZGENE, UniProtKB/TrEMBL
  Q6A078 ENTREZGENE
  Q8BIB8 ENTREZGENE
  Q99KF2_MOUSE UniProtKB/TrEMBL
UniProt Secondary Q8BIB8 UniProtKB/Swiss-Prot