RP2

Protein identityUniProt · HPA

UniProt accession

O75695

Gene

RP2

Ensembl

ENSG00000102218

Chromosome

X

Canonical length

350 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Nuclear bodies,Vesicles,Plasma membrane,Cytosol,Acrosome,Mid piece,Principal piece,End piece

OverviewNCBI Gene

The RP2 locus has been implicated as one cause of X-linked retinitis pigmentosa. The predicted gene product shows homology with human cofactor C, a protein involved in the ultimate step of beta-tubulin folding. Progressive retinal degeneration may therefore be due to the accumulation of incorrectly-folded photoreceptor or neuron-specific tubulin isoforms followed by progressive cell death [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

350 residues, UniProt reviewed canonical sequence.

>O75695|RP2
     1  MGCFFSKRRK ADKESRPENE EERPKQYSWD QREKVDPKDY MFSGLKDETV GRLPGTVAGQ
    61  QFLIQDCENC NIYIFDHSAT VTIDDCTNCI IFLGPVKGSV FFRNCRDCKC TLACQQFRVR
   121  DCRKLEVFLC CATQPIIESS SNIKFGCFQW YYPELAFQFK DAGLSIFNNT WSNIHDFTPV
   181  SGELNWSLLP EDAVVQDYVP IPTTEELKAV RVSTEANRSI VPISRGQRQK SSDESCLVVL
   241  FAGDYTIANA RKLIDEMVGK GFFLVQTKEV SMKAEDAQRV FREKAPDFLP LLNKGPVIAL
   301  EFNGDGAVEV CQLIVNEIFN GTKMFVSESK ETASGDVDSF YNFADIQMGI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RP2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.28

Highest tissue expression

47 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RP2.

Disease | AllUniProt

Conditions RP2 is implicated in, by any mechanism.

• Retinitis pigmentosa 2 (RP2) MIM:312600

Disease | GeneticClinVar

176 pathogenic / likely-pathogenic of 510 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Retinitis pigmentosa 2
• Retinal dystrophy
• Retinitis pigmentosa
• Leber congenital amaurosis
• Retinitis pigmentosa 3

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.31

gnomAD pLI

0.96

gnomAD missense Z

0.63

DepMap mean gene effect

-0.04

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cilium assembly
• post-Golgi vesicle-mediated transport
• protein folding
• protein transport
• visual perception

Molecular functions

• GTP binding
• GTPase activator activity
• magnesium ion binding
• unfolded protein binding

Cellular components

• acrosomal vesicle
• centriole
• ciliary basal body
• cilium
• cytoplasm
• cytoplasmic vesicle
• cytosol
• extracellular exosome
• Golgi apparatus
• nuclear body
• nucleoplasm
• periciliary membrane compartment
• plasma membrane
• sperm end piece
• sperm midpiece
• sperm principal piece

Protein domainsUniProt · Pfam · InterPro

• CARP motif
• Tubulin binding cofactor C-like domain
• Cyclase-associated protein CAP/septum formation inhibitor MinC, C-terminal
• C-CAP/cofactor C-like domain
• Adenylate cyclase-associated CAP, C-terminal superfamily
• Nucleoside diphosphate kinase-like domain superfamily
• Tubulin binding cofactor C
• Protein XRP2

KeywordsUniProt

• Cell membrane
• Cell projection
• Cilium
• GTP-binding
• GTPase activation
• Lipoprotein
• Membrane
• Myristate
• Nucleotide-binding
• Palmitate
• Protein transport
• Retinitis pigmentosa
• Transport

InteractionsUniProt · HPA

Protein binding partners of RP2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ARL3
• OSTF1
• SLC44A2