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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
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:20230778-20271873 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 15.83 cM, cytoband A2
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    800 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:20230720-20271892 (+)
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 activator of ARL3 GTPase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    RP2, RP2 activator of ARL3 GTPase
  • Synonyms
    DELXp11.3, NM23-H10, NME10, TBCCD2, XRP2
  • Links
    NCBI Gene ID: 6102
    neXtProt AC: NX_O75695
    UniProt: O75695

  • Chr Location
    Xp11.3; chrX:46837043-46882358 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Rp2 mouse models; 2 with human RP2 associations

Human Disease Mouse Models
      
IDs
 View 4 models
      
IDs
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
    12 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
less
  • All GO Annotations
    28
  • GO References
    7
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
    749
  • Tissues
    12
  • cDNA Data
    49
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 19889 NCBI Gene Model | MGI Sequence Detail 41096 C57BL/6J ±  kb
    transcript NM_001290644 RefSeq | MGI Sequence Detail 4490 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 44
      Developmental Gene Expression 3
      Diseases 2
      Gene Ontology 7
      Phenotypes 12
    • 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:282558 Collin GB, et al., Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss. Cells. 2020 Apr 10;9(4):931
    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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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory