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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
Location & Maps
more
  • Sequence Map
    ChrX:20364481-20405653 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      41173 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome X, 15.83 cM, cytoband A2
  • Mapping Data
    3 experiments
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
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  • 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
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.
Mice homozygous for a knock-out allele exhibit photoreceptor degeneration.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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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
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    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000017057 VEGA Gene Model | MGI Sequence Detail 41173 C57BL/6J ±  kb
    transcript OTTMUST00000041372 VEGA | MGI Sequence Detail 1545 Not Applicable  
    polypeptide OTTMUSP00000063985 VEGA | MGI Sequence Detail 369 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      108 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      1 Sequence
    • Protein Ontology
      PR:000014168 protein XRP2
    • InterPro Domains
      IPR036223 Adenylate cyclase-associated CAP, C-terminal superfamily
      IPR006599 CARP motif
      IPR017901 C-CAP/cofactor C-like domain
      IPR016098 Cyclase-associated protein CAP/septum formation inhibitor MinC, C-terminal
      IPR036850 Nucleoside diphosphate kinase-like domain superfamily
      IPR012945 Tubulin binding cofactor C-like domain
    Molecular
    Reagents
    less
    • All nucleic 48
      cDNA 48

      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
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.
    last database update
    06/19/2018
    MGI 6.12
    The Jackson Laboratory