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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
Location & Maps
more
  • Sequence Map
    Chr5:108388391-108432397 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      44007 bp   ±  kb flank

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

  • Chr Location
    4p16.3; chr4:587325-670892 (+)  GRCh38.p2

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

Human Disease Mouse Models
       Night Blindness, Congenital Stationary, Autosomal Dominant 2; CSNBAD2   OMIM: 163500 View 14 models
Retinitis Pigmentosa 40; RP40   OMIM: 613801 View 9 models
       Retinitis Pigmentosa; RP   OMIM: 268000 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    11 with disease annotations
  • References
    18 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    26 phenotypes from 12 alleles in 11 genetic backgrounds
    35 phenotypes from multigenic genotypes
    1 images
    327 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    15
  • Chemically induced (ENU)
    9
  • Chemically induced (other)
    1
  • Radiation induced
    1
  • Spontaneous
    2
  • Targeted
    2
  • Genomic Mutations
    2 involving Pde6b
  • Incidental Mutations
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
receptor
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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000026326 VEGA Gene Model | MGI Sequence Detail 44007 C57BL/6J ±  kb
transcript OTTMUST00000065111 VEGA | MGI Sequence Detail 2799 Not Applicable  
polypeptide OTTMUSP00000032409 VEGA | MGI Sequence Detail 856 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    383 from dbSNP Build 137
  • RFLP
Protein
Information
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  • UniProt
    6 Sequences
  • Protein Ontology
    PR:000012479 rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta
  • EC
  • InterPro Domains
    IPR023088 3'5'-cyclic nucleotide phosphodiesterase
    IPR002073 3'5'-cyclic nucleotide phosphodiesterase, catalytic domain
    IPR023174 3'5'-cyclic nucleotide phosphodiesterase, conserved site
    IPR003018 GAF domain
    IPR029016 GAF domain-like
    IPR003607 HD/PDEase domain
Molecular
Reagents
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  • All nucleic 150
    Genomic 11
    cDNA 133
    Primer pair 4
    Other 2

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-13209, MGD-MRK-13742, MGD-MRK-13807, MGD-MRK-13808, MGD-MRK-13811, MGI:2157069
References
more
  • Summaries
    All 430
    Developmental Gene Expression 7
    Diseases 18
    Gene Ontology 6
    Phenotypes 327
  • 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:227078 Buhr ED, et al., Neuropsin (OPN5)-mediated photoentrainment of local circadian oscillators in mammalian retina and cornea. Proc Natl Acad Sci U S A. 2015 Oct 20;112(42):13093-8

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
02/02/2016
MGI 6.02
The Jackson Laboratory