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Rp2 Gene Detail
Summary
  • Symbol
    Rp2
  • Name
    retinitis pigmentosa 2 homolog
  • Synonyms
    Rp2h
  • Feature Type
    protein coding gene
  • IDs
    MGI:1277953
    NCBI Gene: 19889
  • Gene Overview
    MyGene.info: RP2
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:20364481-20405653 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome X, 15.83 cM, cytoband A2
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    108 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1277953
protein coding gene ChrX:20364481-20405653 (.)
129S1/SvImJ MGP_129S1SvImJ_G0035589
protein coding gene ChrX:15240090-15285009 (+)
A/J MGP_AJ_G0035566
protein coding gene ChrX:15342102-15385876 (+)
AKR/J MGP_AKRJ_G0035499
protein coding gene ChrX:15849505-15893113 (+)
BALB/cJ MGP_BALBcJ_G0035559
protein coding gene ChrX:15093095-15135132 (+)
C3H/HeJ MGP_C3HHeJ_G0035277
protein coding gene ChrX:15442620-15486219 (+)
C57BL/6NJ MGP_C57BL6NJ_G0036095
protein coding gene ChrX:15644181-15689736 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0032959
protein coding gene ChrX:13592268-13636664 (+)
CAST/EiJ MGP_CASTEiJ_G0034568
protein coding gene ChrX:14770203-14812754 (+)
CBA/J MGP_CBAJ_G0035246
protein coding gene ChrX:16361141-16408247 (+)
DBA/2J MGP_DBA2J_G0035398
protein coding gene ChrX:15142935-15185825 (+)
FVB/NJ MGP_FVBNJ_G0035344
protein coding gene ChrX:15049955-15091031 (+)
LP/J MGP_LPJ_G0035480
protein coding gene ChrX:15476854-15520746 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035388
protein coding gene ChrX:16616906-16671520 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0036102
protein coding gene ChrX:15159055-15201350 (+)
PWK/PhJ MGP_PWKPhJ_G0034269
protein coding gene ChrX:14340544-14382655 (+)
SPRET/EiJ MGP_SPRETEiJ_G0034109
protein coding gene ChrX:15133924-15179150 (+)
WSB/EiJ MGP_WSBEiJ_G0034703
protein coding gene ChrX:15038679-15081556 (+)



Homology
more
  • Human Ortholog
    RP2, RP2, ARL3 GTPase activating protein
  • Vertebrate Orthologs
    9
  • Human Ortholog
    RP2, RP2, ARL3 GTPase activating protein
    Orthology source: HomoloGene, HGNC
  • Synonyms
    DELXp11.3, NM23-H10, NME10, TBCCD2, XRP2
  • Links
    NCBI Gene ID: 6102
    neXtProt AC: NX_O75695
    UniProt: O75695

  • Chr Location
    Xp11.3; chrX:46836912-46882358 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Rp2 mouse models; 1 with human RP2 associations

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

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    14 phenotypes from 3 alleles in 3 genetic backgrounds
    7 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele exhibit photoreceptor degeneration.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 19889 NCBI Gene Model | MGI Sequence Detail 41173 C57BL/6J ±  kb
    transcript NM_001290644 RefSeq | MGI Sequence Detail 4581 C57BL/6  
    polypeptide Q9EPK2 UniProt | EBI | MGI Sequence Detail 347 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 49
      cDNA 49

      Microarray probesets 8
    Other
    Accession IDs
    less
    MGI:2147908
    References
    more
    • Summaries
      All 38
      Developmental Gene Expression 3
      Diseases 2
      Gene Ontology 5
      Phenotypes 7
    • Earliest
      J:48965 Schwahn U, et al., Positional cloning of the gene for X-linked retinitis pigmentosa 2 [see comments]. Nat Genet. 1998 Aug;19(4):327-32
    • Latest
      J:235882 Wright ZC, et al., ARL3 regulates trafficking of prenylated phototransduction proteins to the rod outer segment. Hum Mol Genet. 2016 May 15;25(10):2031-2044

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory