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Rpgr Gene Detail
Summary
  • Symbol
    Rpgr
  • Name
    retinitis pigmentosa GTPase regulator
  • Synonyms
    Rd9, Rp3h
  • Feature Type
    protein coding gene
  • IDs
    MGI:1344037
    NCBI Gene: 19893
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:10024455-10083034 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 4.62 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1377 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1344037
 protein coding gene ChrX:9939860-10083159 (-)
129S1/SvImJ MGP_129S1SvImJ_G0035562
 protein coding gene ChrX:4813602-4964320 (-)
A/J MGP_AJ_G0035539
 protein coding gene ChrX:4913159-5074615 (-)
AKR/J MGP_AKRJ_G0035471
 protein coding gene ChrX:4980180-5139896 (-)
BALB/cJ MGP_BALBcJ_G0035532
 protein coding gene ChrX:4830777-4974745 (-)
C3H/HeJ MGP_C3HHeJ_G0035249
 protein coding gene ChrX:4931543-5094287 (-)
C57BL/6NJ MGP_C57BL6NJ_G0036062
 protein coding gene ChrX:4887357-5045474 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0032931
 protein coding gene ChrX:4018891-4148251 (-)
CAST/EiJ MGP_CASTEiJ_G0034541
 protein coding gene ChrX:4633201-4784576 (-)
CBA/J MGP_CBAJ_G0035218
 protein coding gene ChrX:5274592-5438726 (-)
DBA/2J MGP_DBA2J_G0035371
 protein coding gene ChrX:4830789-4981037 (-)
FVB/NJ MGP_FVBNJ_G0035318
 protein coding gene ChrX:4674332-4819423 (-)
LP/J MGP_LPJ_G0035453
 protein coding gene ChrX:5009182-5165997 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035361
 protein coding gene ChrX:5155921-5333051 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0036074
 protein coding gene ChrX:4738868-4888378 (-)
PWK/PhJ MGP_PWKPhJ_G0034242
 protein coding gene ChrX:4329358-4473731 (-)
SPRET/EiJ MGP_SPRETEiJ_G0034083
 protein coding gene ChrX:4799436-4945481 (-)
WSB/EiJ MGP_WSBEiJ_G0034677
 protein coding gene ChrX:4814053-4964054 (-)



Homology
more
  • Human Ortholog
    RPGR, retinitis pigmentosa GTPase regulator
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    RPGR, retinitis pigmentosa GTPase regulator
  • Synonyms
    COD1, CORDX1, CRD, orf15, PCDX, RP15, RP3, XLRP3
  • Links
    NCBI Gene ID: 6103
    neXtProt AC: NX_Q92834
    UniProt: Q92834

  • Chr Location
    Xp11.4; chrX:38269163-38327544 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Rpgr mouse models; 5 with human RPGR associations

Human Disease Mouse Models
      
IDs
 View 4 models
IDs
 View 2 models
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    27 phenotypes from 7 alleles in 9 genetic backgrounds
    3 phenotypes from multigenic genotypes
    5 images
    33 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homo- and hemizygotes for an X-linked, targeted, null mutation exhibit ectopic placement of cone opsins, reduced levels of rhodopsin in rod cells, and partial degeneration of both cone and rod photoreceptors by 2-6 months of age.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    37
  • GO References
    18
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    815
  • Tissues
    25
  • cDNA Data
    35
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 19893 NCBI Gene Model | MGI Sequence Detail 58580 C57BL/6J ±  kb
    transcript NM_001177950 RefSeq | MGI Sequence Detail 3604 C57BL/6  
    polypeptide Q9R0X5 UniProt | EBI | MGI Sequence Detail 1001 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      9 Sequences
    • InterPro Domains
      IPR009091 Regulator of chromosome condensation 1/beta-lactamase-inhibitor protein II
      IPR000408 Regulator of chromosome condensation, RCC1
      IPR051709 Ubiquitin ligases and GTPase regulators
    • GlyGen
      Q9R0X5 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 44
      Genomic 4
      cDNA 38
      Primer pair 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1277102, MGI:3511471
    References
    more
    • Summaries
      All 73
      Developmental Gene Expression 6
      Diseases 4
      Gene Ontology 18
      Phenotypes 33
    • Earliest
      J:48951 Yan D, et al., Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr). J Biol Chem. 1998 Jul 31;273(31):19656-63
    • Latest
      J:349725 Ying R, et al., RPGR is a guanine nucleotide exchange factor for the small GTPase RAB37 required for retinal function via autophagy regulation. Cell Rep. 2024 Apr 23;43(4):114010
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    11/19/2024
    MGI 6.24     		The Jackson Laboratory