GenTIGS

Centrosomal protein 290 (CEP290) Associated conditions: 1. Retinitis pigmentosa 2. Joubert syndrome 3. Leber congenital amaurosis 4. Bardet-Biedl syndrome 5. Nephronophthisis 6. Senior-Loken syndrome

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_025114.4	NP_079390.3	NC_000012.12	(88049015..88142087, complement)	Reference GRCh38.p14 Primary Assembly	-

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1168 reference articles

Variant Information Centrosomal protein 290 (CEP290) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Centrosomal protein 290 (CEP290)

ClinVar variants:Revealing mutagenic patterns

GO Term of Centrosomal protein 290 (CEP290)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IBA	involved_in	kidney development	Process	-
2	Homo sapiens	IPI	enables	protein binding	Function	16682973 18694559 18723859 21565611 21620453 22441691 22446187 22797915 22863007 23446637 23644468 23943788 24421332 24550735 24816561 25416956 25552655 26638075 28235840 28514442 32296183 33961781 36606424
3	Homo sapiens	TAS	located_in	extracellular region	Component	-
4	Homo sapiens	IDA	located_in	nucleus	Component	16682973
5	Homo sapiens	IEA	located_in	nucleus	Component	-
6	Homo sapiens	IDA	located_in	cytoplasm	Component	14654843
7	Homo sapiens	IDA	colocalizes_with	centrosome	Component	24648492
8	Homo sapiens	IDA	located_in	centrosome	Component	14654843 16682973 21399614 24550735
9	Homo sapiens	IEA	located_in	centrosome	Component	-
10	Homo sapiens	IDA	located_in	centriole	Component	27623382
11	Homo sapiens	IEA	located_in	centriole	Component	-
12	Homo sapiens	IDA	located_in	cytosol	Component	16682973
13	Homo sapiens	TAS	located_in	cytosol	Component	-
14	Homo sapiens	IEA	located_in	cilium	Component	-
15	Homo sapiens	IEA	involved_in	protein transport	Process	-
16	Homo sapiens	ISS	involved_in	protein transport	Process	-
17	Homo sapiens	HDA	located_in	membrane	Component	19946888
18	Homo sapiens	IEA	involved_in	cell projection organization	Process	-
19	Homo sapiens	ISS	involved_in	hindbrain development	Process	16682973
20	Homo sapiens	ISS	involved_in	otic vesicle formation	Process	16682973
21	Homo sapiens	IEA	located_in	cytoplasmic vesicle	Component	-
22	Homo sapiens	ISS	located_in	photoreceptor connecting cilium	Component	16682973
23	Homo sapiens	IDA	part_of	protein-containing complex	Component	24421332
24	Homo sapiens	IBA	is_active_in	centriolar satellite	Component	-
25	Homo sapiens	IDA	located_in	centriolar satellite	Component	22797915 23943788
26	Homo sapiens	IEA	located_in	centriolar satellite	Component	-
27	Homo sapiens	TAS	located_in	specific granule lumen	Component	-
28	Homo sapiens	IBA	is_active_in	ciliary transition zone	Component	-
29	Homo sapiens	IDA	located_in	ciliary transition zone	Component	23943788 36606424
30	Homo sapiens	NAS	located_in	ciliary transition zone	Component	28401750
31	Homo sapiens	ISS	part_of	MKS complex	Component	-
32	Homo sapiens	ISS	involved_in	eye photoreceptor cell development	Process	16682973
33	Homo sapiens	IPI	enables	identical protein binding	Function	18723859
34	Homo sapiens	IBA	involved_in	camera-type eye development	Process	-
35	Homo sapiens	IDA	involved_in	positive regulation of DNA-templated transcription	Process	16682973
36	Homo sapiens	ISS	involved_in	pronephros development	Process	16682973
37	Homo sapiens	IDA	NOT enables	microtubule minus-end binding	Function	16682973
38	Homo sapiens	IDA	involved_in	cilium assembly	Process	26386044
39	Homo sapiens	ISS	involved_in	cilium assembly	Process	-
40	Homo sapiens	IMP	acts_upstream_of_or_within	regulation of establishment of protein localization	Process	24421332
41	Homo sapiens	IMP	involved_in	positive regulation of intracellular protein transport	Process	22797915
42	Homo sapiens	IBA	involved_in	ciliary basal body-plasma membrane docking	Process	-
43	Homo sapiens	NAS	involved_in	protein localization to ciliary transition zone	Process	28401750
44	Homo sapiens	IBA	involved_in	ciliary transition zone assembly	Process	-
45	Homo sapiens	IBA	involved_in	non-motile cilium assembly	Process	-