RP2 (RP2 activator of ARL3 GTPase)

2014-11-01  

Identity

HGNC
RP2
LOCATION
Xp11.3
LOCUSID
6102
ALIAS
DELXp11.3,NM23-H10,NME10,TBCCD2,XRP2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6102
MIM: 300757
HGNC: 10274
Ensembl: ENSG00000102218

Variants:

dbSNP: 6102
ClinVar: 6102
TCGA: ENSG00000102218
COSMIC: RP2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000102218ENST00000218340O75695
ENSG00000102218ENST00000218340A0A1B2JLU2

Expression (GTEx)

0
5
10
15
20
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Cargo trafficking to the periciliary membraneREACTOMER-HSA-5620920
Trafficking of myristoylated proteins to the ciliumREACTOMER-HSA-5624138

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
119922602002A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.92
145646702003RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.80
145646702003RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.80
183764162008The retinitis pigmentosa 2 gene product is a GTPase-activating protein for Arf-like 3.65
233720562013Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa.56
201068692010The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary cilium.50
212852452011Localization of retinitis pigmentosa 2 to cilia is regulated by Importin beta2.48
231506122012Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.48
169697632007Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling.42
118472272002Functional overlap between retinitis pigmentosa 2 protein and the tubulin-specific chaperone cofactor C.34

Citation

Dessen P

RP2 (RP2 activator of ARL3 GTPase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72771/rp2-(rp2-activator-of-arl3-gtpase)