CEP290 [specific granule lumen]

Stable Identifier
R-HSA-6799524
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
specific granule lumen
Synonyms
Cep290
Locations in the PathwayBrowser
Expand all
External Reference Information
External Reference
UniProt:O15078 CEP290
Gene Names
CEP290, BBS14, KIAA0373, NPHP6
Chain
chain:1-2479
Reference Genes
BioGPS Gene:80184 CEP290
COSMIC (genes):CEP290 CEP290
CTD Gene:80184 CEP290
dbSNP Gene:80184 CEP290
ENSEMBL:ENSG00000198707 CEP290
HGNC:29021 CEP290
KEGG:hsa:80184 CEP290
Monarch:80184 CEP290
NCBI Gene:80184 CEP290
OMIM:610142 CEP290
UCSC:O15078 CEP290
Reference Transcript
Other Identifiers
11725230_a_at
11725231_a_at
11745673_a_at
11760077_x_at
16768205
205250_PM_s_at
205250_s_at
221683_PM_s_at
221683_s_at
3143701
3464623
3464624
3464625
3464626
3464628
3464631
3464632
3464633
3464635
3464636
3464637
3464638
3464639
3464640
3464641
3464642
3464643
3464644
3464645
3464646
3464647
3464648
3464650
3464651
3464652
3464653
3464654
3464656
3464657
3464658
3464659
3464660
3464661
3464662
3464663
3464664
3464666
3464667
3464668
3464669
3464671
3464673
3464674
3464675
3464676
3464677
3464678
3464679
3464680
3464681
3464682
3464683
3464684
3464685
3464686
3464687
3464688
3464689
3464690
3464691
3464692
3464693
3464695
3464696
3464697
3464698
3464699
3464700
3464702
3464703
3464704
3464705
3464706
3464707
3464708
3464709
3464710
3464711
3464712
3464713
38135_at
7965264
80184
A_23_P36865
A_24_P51067
GE53090
GE83713
GE83973
GE882962
GO:0001822
GO:0005515
GO:0005576
GO:0005634
GO:0005737
GO:0005813
GO:0005814
GO:0005815
GO:0005829
GO:0005856
GO:0005929
GO:0006355
GO:0015031
GO:0016020
GO:0030030
GO:0030902
GO:0030916
GO:0031410
GO:0032391
GO:0032991
GO:0034451
GO:0035580
GO:0035869
GO:0036038
GO:0036064
GO:0042462
GO:0042802
GO:0042995
GO:0043010
GO:0043226
GO:0044782
GO:0045893
GO:0048793
GO:0048856
GO:0060271
GO:0070201
GO:0090316
GO:0097711
GO:1905349
GO:1905515
HMNXSV003035301
HMNXSV003051062
ILMN_1746832
PH_hs_0032517
TC12001791.hg
g12711597_3p_a_at
g7662079_3p_s_at
Participates
as a member of
Other forms of this molecule
CEP290 [extracellular region]
CEP290 [cytosol]
Inferred To
cep290 [specific granule lumen] (Danio rerio)
cep290 [specific granule lumen] (Xenopus tropicalis)
Cep290 [specific granule lumen] (Drosophila melanogaster)
Cep290 [specific granule lumen] (Mus musculus)
Cep290 [specific granule lumen] (Rattus norvegicus)
CEP290 [specific granule lumen] (Bos taurus)
CEP290 [specific granule lumen] (Canis familiaris)
CEP290 [specific granule lumen] (Sus scrofa)
Cross References
RefSeq
ENSEMBL
OpenTargets
HPA
PRO
Pharos - Targets
Orphanet
Interactors (7)
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