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Pde6b Gene Detail
Summary
  • Symbol
    Pde6b
  • Name
    phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide
  • Synonyms
    nmf137, Pdeb, r, rd, rd1, rd10
  • Feature Type
    protein coding gene
  • IDs
    MGI:97525
    NCBI Gene: 18587
  • Gene Overview
    MyGene.info: PDE6B
  • Alliance
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:108388373-108431743 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 53.07 cM
  • Mapping Data
    49 experiments
Strain
Comparison
more
  • SNPs within 2kb
    379 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97525
protein coding gene Chr5:108388373-108432397 (.)
129S1/SvImJ MGP_129S1SvImJ_G0029854
protein coding gene Chr5:110498886-110545741 (+)
A/J MGP_AJ_G0029818
protein coding gene Chr5:106250463-106295933 (+)
AKR/J MGP_AKRJ_G0029763
protein coding gene Chr5:109670759-109721469 (+)
BALB/cJ MGP_BALBcJ_G0029830
protein coding gene Chr5:107391824-107436787 (+)
C3H/HeJ MGP_C3HHeJ_G0029552
protein coding gene Chr5:110170544-110215953 (+)
C57BL/6NJ MGP_C57BL6NJ_G0030284
protein coding gene Chr5:114997854-115045613 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0027518
protein coding gene Chr5:101270021-101314820 (+)
CAST/EiJ MGP_CASTEiJ_G0028966
protein coding gene Chr5:109059130-109107334 (+)
CBA/J MGP_CBAJ_G0029520
protein coding gene Chr5:118905026-118956012 (+)
DBA/2J MGP_DBA2J_G0029666
protein coding gene Chr5:106381403-106427016 (+)
FVB/NJ MGP_FVBNJ_G0029623
protein coding gene Chr5:105108974-105154584 (+)
LP/J MGP_LPJ_G0029754
protein coding gene Chr5:111080240-111126118 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0029655
protein coding gene Chr5:123797996-123850327 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0030318
protein coding gene Chr5:109238002-109284301 (+)
PWK/PhJ MGP_PWKPhJ_G0028679
protein coding gene Chr5:105203038-105247745 (+)
SPRET/EiJ MGP_SPRETEiJ_G0028517
protein coding gene Chr5:106753038-106799187 (+)
WSB/EiJ MGP_WSBEiJ_G0029039
protein coding gene Chr5:109546178-109594640 (+)



Homology
more
  • Human Ortholog
    PDE6B, phosphodiesterase 6B
  • Vertebrate Orthologs
    9
  • Human Ortholog
    PDE6B, phosphodiesterase 6B
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CSNB3, CSNBAD2, GMP-PDEbeta, PDEB, rd1, RP40
  • Links
    NCBI Gene ID: 5158
    neXtProt AC: NX_P35913
    UniProt: P35913

  • Chr Location
    4p16.3; chr4:587593-670892 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    3 with Pde6b mouse models; 2 with human PDE6B associations

Human Disease Mouse Models
      
IDs
View 14 models
IDs
View 9 models
      
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    11 with disease annotations
  • References
    8 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    27 phenotypes from 13 alleles in 12 genetic backgrounds
    42 phenotypes from multigenic genotypes
    1 images
    398 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 the rd1 mutation have severe retinal degeneration and vision loss. Rod cells are lost by 35 days of age; cone cells degenerate slower and some light sensitivity persists. Other allelic mutations produce similar or milder phenotypes.
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
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
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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
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 18587 NCBI Gene Model | MGI Sequence Detail 43371 C57BL/6J ±  kb
    transcript NM_008806 RefSeq | MGI Sequence Detail 2831 C57BL/6  
    polypeptide P23440 UniProt | EBI | MGI Sequence Detail 856 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 151
      Genomic 11
      cDNA 134
      Primer pair 4
      Other 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-13209, MGD-MRK-13742, MGD-MRK-13807, MGD-MRK-13808, MGD-MRK-13811, MGI:2157069
    References
    more
    • Summaries
      All 513
      Developmental Gene Expression 8
      Diseases 8
      Gene Ontology 8
      Phenotypes 398
    • Earliest
      J:24999 Keeler CE, The inheritance of a retinal abnormality in white mice. Proc Natl Acad Sci U S A. 1924 Jul;10(7):329-33
    • Latest
      J:266436 Xu L, et al., Stimulation of AMPK prevents degeneration of photoreceptors and the retinal pigment epithelium. Proc Natl Acad Sci U S A. 2018 Oct 9;115(41):10475-10480

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    Funding Information
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    last database update
    11/27/2018
    MGI 6.13
    The Jackson Laboratory