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Rd3 Gene Detail
Summary
  • Symbol
    Rd3
  • Name
    retinal degeneration 3
  • Synonyms
    3322402L07Rik, rd3, rd-3
  • Feature Type
    protein coding gene
  • IDs
    MGI:1921273
    NCBI Gene: 74023
  • Alliance
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:191977370-191988283 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 97.09 cM, cytoband H6
  • Mapping Data
    10 experiments
Strain
Comparison
more
  • SNPs within 2kb
    255 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1921273
protein coding gene Chr1:191954196-191988283 (+)
129S1/SvImJ MGP_129S1SvImJ_G0016950
protein coding gene Chr1:199051672-199063950 (+)
A/J MGP_AJ_G0016929
protein coding gene Chr1:190883173-190894090 (+)
AKR/J MGP_AKRJ_G0016894
protein coding gene Chr1:196557767-196568673 (+)
BALB/cJ MGP_BALBcJ_G0016887
protein coding gene Chr1:191560168-191571389 (+)
C3H/HeJ MGP_C3HHeJ_G0016711
protein coding gene Chr1:197400263-197412220 (+)
C57BL/6NJ MGP_C57BL6NJ_G0017350
protein coding gene Chr1:205416333-205427246 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0015057
protein coding gene Chr1:181784651-181795494 (+)
CAST/EiJ MGP_CASTEiJ_G0016294
protein coding gene Chr1:196998633-197010650 (+)
CBA/J MGP_CBAJ_G0016685
protein coding gene Chr1:213014234-213030297 (+)
DBA/2J MGP_DBA2J_G0016791
protein coding gene Chr1:189605767-189616869 (+)
FVB/NJ MGP_FVBNJ_G0016787
protein coding gene Chr1:187732194-187743108 (+)
LP/J MGP_LPJ_G0016866
protein coding gene Chr1:200237369-200248409 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0016819
protein coding gene Chr1:219653715-219665719 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0017387
protein coding gene Chr1:196433013-196443932 (+)
PWK/PhJ MGP_PWKPhJ_G0016081
protein coding gene Chr1:188904585-188917996 (+)
SPRET/EiJ MGP_SPRETEiJ_G0015857
protein coding gene Chr1:195434459-195445350 (+)
WSB/EiJ MGP_WSBEiJ_G0016356
protein coding gene Chr1:196673360-196684271 (+)



Homology
more
  • Human Ortholog
    RD3, retinal degeneration 3, GUCY2D regulator
  • Vertebrate Orthologs
    10
  • Human Ortholog
    RD3, retinal degeneration 3, GUCY2D regulator
    Orthology source: HomoloGene, HGNC
  • Synonyms
    C1orf36, LCA12
  • Links
    NCBI Gene ID: 343035
    neXtProt AC: NX_Q7Z3Z2
    UniProt: Q7Z3Z2

  • Chr Location
    1q32.3; chr1:211476522-211492917 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 11373
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: RD3
  • Gene Tree
    Rd3
Human Diseases
more
  • Diseases
    1 with Rd3 mouse models; 1 with human RD3 associations

Human Disease Mouse Models
      
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    5 phenotypes from 1 allele in 1 genetic background
    1 phenotype from multigenic genotypes
    16 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.
Homozygotes for a spontaneous mutation exhibit retinal degeneration, beginning at 3 weeks of age, characterized by complete loss of photoreceptor rod cells by 5 weeks, and cones by 8 weeks.
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 population 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 ENSMUSG00000049353 Ensembl Gene Model | MGI Sequence Detail 10914 C57BL/6J ±  kb
    transcript ENSMUST00000180463 Ensembl | MGI Sequence Detail 3724 Not Applicable  
    polypeptide ENSMUSP00000138049 Ensembl | MGI Sequence Detail 195 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 11
      cDNA 11

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-13810, MGD-MRK-13813, MGI:97884
    References
    more
    • Summaries
      All 43
      Developmental Gene Expression 2
      Diseases 1
      Gene Ontology 4
      Phenotypes 16
    • Earliest
      J:4364 Bell JR, et al., Genomic structure, chromosomal location, and evolution of the mouse Hox 8 gene [published erratum appears in Genomics 1993 Sep;17(3):800]. Genomics. 1993 Apr;16(1):123-31
    • Latest
      J:236923 Peshenko IV, et al., Functional Study and Mapping Sites for Interaction with the Target Enzyme in Retinal Degeneration 3 (RD3) Protein. J Biol Chem. 2016 Sep 9;291(37):19713-23

    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
    03/13/2019
    MGI 6.13
    The Jackson Laboratory