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RP2

GENERAL INFORMATION

Gene name

 RP2

Gene description

 Retinitis pigmentosa 2 (X-linked recessive)

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 1
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Mixed
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in several tissues, most abundant in lymphoid tissue.

DATA RELIABILITY

Data reliability
description

 Antibody staining consistent with RNA expression data.

Reliability score

 Uncertain based on 1 antibody.
HPA000234
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Bone marrow

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 RP2 (HGNC Symbol)

Synonyms

 NM23-H10, NME10, TBCCD2

Description

 Retinitis pigmentosa 2 (X-linked recessive) (HGNC Symbol)

Entrez gene summary

 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]

Chromosome

 X

Cytoband

 p11.3

Chromosome location (bp)

 46836940 - 46882358

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000102218 (version 83.38)

Entrez gene

 6102

UniProt

 O75695 (UniProt - Evidence at protein level)

neXtProt

 NX_O75695

Antibodypedia

 RP2 antibodies

PROTEIN BROWSER
RP2-001

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
RP2-001
ENSP00000218340
ENST00000218340
O75695 [Direct mapping]
Protein XRP2
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Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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GO:0000902 [cell morphogenesis]
GO:0003779 [actin binding]
GO:0005096 [GTPase activator activity]
GO:0005515 [protein binding]
GO:0005525 [GTP binding]
GO:0005737 [cytoplasm]
GO:0005794 [Golgi apparatus]
GO:0005814 [centriole]
GO:0005886 [plasma membrane]
GO:0006457 [protein folding]
GO:0006892 [post-Golgi vesicle-mediated transport]
GO:0006996 [organelle organization]
GO:0007010 [cytoskeleton organization]
GO:0007601 [visual perception]
GO:0015031 [protein transport]
GO:0031410 [cytoplasmic vesicle]
GO:0036064 [ciliary basal body]
GO:0043547 [positive regulation of GTPase activity]
GO:0051082 [unfolded protein binding]
GO:0070062 [extracellular exosome]
GO:0072372 [primary cilium]
GO:1990075 [periciliary membrane compartment]
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 350 aa
39.6 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.