GenTIGS

RP2 activator of ARL3 GTPase (RP2) Associated conditions: 1. Retinitis pigmentosa 2. Leber congenital amaurosis

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_006915.3	NP_008846.2	NC_000023.11	(46837042..46882357)	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 1100 reference articles

Variant Information RP2 activator of ARL3 GTPase (RP2) Mutation Visualization Dashboard: Pathogenic variant distribution chart

ClinVar variants:Revealing mutagenic patterns

GO Term of RP2 activator of ARL3 GTPase (RP2)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IEA	enables	nucleotide binding	Function	-
2	Homo sapiens	IDA	enables	magnesium ion binding	Function	26455799
3	Homo sapiens	IBA	enables	GTPase activator activity	Function	-
4	Homo sapiens	IDA	enables	GTPase activator activity	Function	11847227 18376416 26455799
5	Homo sapiens	IEA	enables	GTPase activator activity	Function	-
6	Homo sapiens	TAS	enables	GTPase activator activity	Function	-
7	Homo sapiens	IPI	enables	protein binding	Function	11847227 16472755 18376416 26455799 32296183
8	Homo sapiens	IEA	enables	GTP binding	Function	-
9	Homo sapiens	IDA	located_in	cytoplasm	Component	12417528
10	Homo sapiens	IEA	located_in	cytoplasm	Component	-
11	Homo sapiens	IEA	located_in	Golgi apparatus	Component	-
12	Homo sapiens	IEA	located_in	centriole	Component	-
13	Homo sapiens	IDA	located_in	plasma membrane	Component	12417528 20106869
14	Homo sapiens	IEA	located_in	plasma membrane	Component	-
15	Homo sapiens	IBA	is_active_in	cilium	Component	-
16	Homo sapiens	IEA	located_in	cilium	Component	-
17	Homo sapiens	TAS	located_in	cilium	Component	-
18	Homo sapiens	TAS	involved_in	protein folding	Process	9697692
19	Homo sapiens	IBA	involved_in	post-Golgi vesicle-mediated transport	Process	-
20	Homo sapiens	IGI	acts_upstream_of_or_within	post-Golgi vesicle-mediated transport	Process	20106869
21	Homo sapiens	IMP	acts_upstream_of_or_within	post-Golgi vesicle-mediated transport	Process	20106869
22	Homo sapiens	IDA	NOT involved_in	post-chaperonin tubulin folding pathway	Process	11847227
23	Homo sapiens	TAS	involved_in	visual perception	Process	9697692
24	Homo sapiens	IEA	involved_in	protein transport	Process	-
25	Homo sapiens	IGI	located_in	cytoplasmic vesicle	Component	20106869
26	Homo sapiens	IDA	located_in	ciliary basal body	Component	20106869 26455799
27	Homo sapiens	IEA	located_in	ciliary basal body	Component	-
28	Homo sapiens	TAS	enables	unfolded protein binding	Function	9697692
29	Homo sapiens	TAS	involved_in	cilium assembly	Process	-
30	Homo sapiens	HDA	located_in	extracellular exosome	Component	19056867 20458337 23533145
31	Homo sapiens	IBA	is_active_in	periciliary membrane compartment	Component	-
32	Homo sapiens	IEA	located_in	periciliary membrane compartment	Component	-