RPGR (retinitis pigmentosa GTPase regulator)

2014-11-01  

Identity

HGNC
RPGR
LOCATION
Xp11.4
LOCUSID
6103
ALIAS
COD1,CORDX1,CRD,PCDX,RP15,RP3,XLRP3,orf15
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6103
MIM: 312610
HGNC: 10295
Ensembl: ENSG00000156313

Variants:

dbSNP: 6103
ClinVar: 6103
TCGA: ENSG00000156313
COSMIC: RPGR

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000156313ENST00000339363Q92834
ENSG00000156313ENST00000464437H7C4L1
ENSG00000156313ENST00000474584Q92834
ENSG00000156313ENST00000474584A0A0S2Z4Y6
ENSG00000156313ENST00000482855Q92834
ENSG00000156313ENST00000494707H7C4H4
ENSG00000156313ENST00000642373A0A2R8YF02
ENSG00000156313ENST00000642395Q92834
ENSG00000156313ENST00000642558A0A2R8YGY6
ENSG00000156313ENST00000642739A0A2R8Y414
ENSG00000156313ENST00000644238A0A2R8YFT6
ENSG00000156313ENST00000644337Q92834
ENSG00000156313ENST00000645032Q92834
ENSG00000156313ENST00000645124A0A2R8Y838
ENSG00000156313ENST00000646020A0A2R8YDN2
ENSG00000156313ENST00000647261A0A2R8Y4C9

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

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
160434812005RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins.66
118571092002X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15.56
171951642007RPGR mutation analysis and disease: an update.56
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
206311542010Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration.51
231506122012Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.48
173251762007Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations.47

Citation

Dessen P

RPGR (retinitis pigmentosa GTPase regulator)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72782/rpgr