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Pde6d Gene Detail
Summary
  • Symbol
    Pde6d
  • Name
    phosphodiesterase 6D, cGMP-specific, rod, delta
  • Feature Type
    protein coding gene
  • IDs
    MGI:1270843
    NCBI Gene: 18582
  • Gene Overview
    MyGene.info: PDE6D
Location & Maps
more
  • Sequence Map
    Chr1:86542994-86582629 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      39636 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 43.96 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    PDE6D, phosphodiesterase 6D
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PDE6D, phosphodiesterase 6D
    Orthology source: HGNC, HomoloGene
  • Synonyms
    JBTS22, PDED
  • Links
    NCBI Gene ID: 5147
    neXtProt AC: NX_O43924

  • Chr Location
    2q35-q36; chr2:231732425-231781327 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human PDE6D associations

Human Disease Mouse Models
       Joubert Syndrome 22; JBTS22   OMIM: 615665
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    10 phenotypes from 2 alleles in 2 genetic backgrounds
    9 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.
  • All Mutations and Alleles
    14
  • Chemically induced (other)
    1
  • Gene trapped
    7
  • Radiation induced
    1
  • Targeted
    5
  • Genomic Mutations
    2 involving Pde6d
  • Incidental Mutations
Homozygous null mice exhibit progressive retinal degeneration with progressive loss of rod and cone neurons.
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 OTTMUSG00000021876 VEGA Gene Model | MGI Sequence Detail 39636 C57BL/6J ±  kb
transcript OTTMUST00000051929 VEGA | MGI Sequence Detail 1159 Not Applicable  
polypeptide OTTMUSP00000024522 VEGA | MGI Sequence Detail 150 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    191 from dbSNP Build 142
Protein
Information
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  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000012481 retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta
  • InterPro Domains
    IPR008015 GMP phosphodiesterase, delta subunit
    IPR014756 Immunoglobulin E-set
    IPR017287 Retinal rod rhodopsin-sensitive cGMP 3', 5'-cyclic phosphodiesterase, delta subunit
Molecular
Reagents
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  • All nucleic 87
    Genomic 4
    cDNA 82
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
less
MGI:2138333
References
more
  • Summaries
    All 37
    Developmental Gene Expression 3
    Gene Ontology 7
    Phenotypes 9
  • Earliest
    J:47549 Li N, et al., Characterization of human and mouse rod cGMP phosphodiesterase delta subunit (PDE6D) and chromosomal localization of the human gene. Genomics. 1998 Apr 1;49(1):76-82
  • Latest
    J:178896 Chandra A, et al., The GDI-like solubilizing factor PDEdelta sustains the spatial organization and signalling of Ras family proteins. Nat Cell Biol. 2011 Dec 18;

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
06/15/2016
MGI 6.04
The Jackson Laboratory