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	Q05BJ6

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 1157 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	21873635
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
3	Homo sapiens	TAS	located_in	extracellular region	Component	-
4	Homo sapiens	IDA	located_in	nucleus	Component	16682973
5	Homo sapiens	IDA	located_in	cytoplasm	Component	14654843
6	Homo sapiens	IDA	colocalizes_with	centrosome	Component	24648492
7	Homo sapiens	IDA	located_in	centrosome	Component	14654843 16682973 21399614 24550735
8	Homo sapiens	IDA	located_in	centriole	Component	27623382
9	Homo sapiens	IDA	located_in	cytosol	Component	16682973
10	Homo sapiens	TAS	located_in	cytosol	Component	-
11	Homo sapiens	ISS	involved_in	protein transport	Process	-
12	Homo sapiens	HDA	located_in	membrane	Component	19946888
13	Homo sapiens	ISS	involved_in	hindbrain development	Process	16682973
14	Homo sapiens	ISS	involved_in	otic vesicle formation	Process	16682973
15	Homo sapiens	ISS	located_in	photoreceptor connecting cilium	Component	16682973
16	Homo sapiens	IDA	part_of	protein-containing complex	Component	24421332
17	Homo sapiens	IBA	is_active_in	centriolar satellite	Component	21873635
18	Homo sapiens	IDA	located_in	centriolar satellite	Component	22797915 23943788
19	Homo sapiens	TAS	located_in	specific granule lumen	Component	-
20	Homo sapiens	IBA	is_active_in	ciliary transition zone	Component	21873635
21	Homo sapiens	IDA	located_in	ciliary transition zone	Component	23943788
22	Homo sapiens	ISS	part_of	MKS complex	Component	-
23	Homo sapiens	IEA	located_in	ciliary basal body	Component	-
24	Homo sapiens	ISS	involved_in	eye photoreceptor cell development	Process	16682973
25	Homo sapiens	IPI	enables	identical protein binding	Function	18723859
26	Homo sapiens	IBA	involved_in	camera-type eye development	Process	21873635
27	Homo sapiens	IDA	involved_in	positive regulation of DNA-templated transcription	Process	16682973
28	Homo sapiens	ISS	involved_in	pronephros development	Process	16682973
29	Homo sapiens	IDA	NOT enables	microtubule minus-end binding	Function	16682973
30	Homo sapiens	IDA	involved_in	cilium assembly	Process	26386044
31	Homo sapiens	ISS	involved_in	cilium assembly	Process	-
32	Homo sapiens	IMP	acts_upstream_of_or_within	regulation of establishment of protein localization	Process	24421332
33	Homo sapiens	IMP	involved_in	positive regulation of intracellular protein transport	Process	22797915
34	Homo sapiens	IBA	involved_in	ciliary basal body-plasma membrane docking	Process	21873635
35	Homo sapiens	IBA	involved_in	ciliary transition zone assembly	Process	21873635
36	Homo sapiens	IBA	involved_in	non-motile cilium assembly	Process	21873635