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Pde6h Gene Detail
Summary
  • Symbol
    Pde6h
  • Name
    phosphodiesterase 6H, cGMP-specific, cone, gamma
  • Synonyms
    A930033D18Rik, PDEgamma
  • Feature Type
    protein coding gene
  • IDs
    MGI:1925850
    NCBI Gene: 78600
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:136929216-136940483 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 66.72 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    145 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1925850
 protein coding gene Chr6:136900830-136945863 (+)
129S1/SvImJ MGP_129S1SvImJ_G0031433
 protein coding gene Chr6:141437653-141487822 (+)
A/J MGP_AJ_G0031408
 protein coding gene Chr6:135819490-135866609 (+)
AKR/J MGP_AKRJ_G0031336
 protein coding gene Chr6:139953678-140006400 (+)
BALB/cJ MGP_BALBcJ_G0031415
 protein coding gene Chr6:135698198-135747065 (+)
C3H/HeJ MGP_C3HHeJ_G0031137
 protein coding gene Chr6:139984920-140035640 (+)
C57BL/6NJ MGP_C57BL6NJ_G0031877
 protein coding gene Chr6:145268477-145317891 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0029005
 protein coding gene Chr6:134933384-134980891 (+)
CAST/EiJ MGP_CASTEiJ_G0030505
 protein coding gene Chr6:139497073-139546473 (+)
CBA/J MGP_CBAJ_G0031097
 protein coding gene Chr6:150711031-150772373 (+)
DBA/2J MGP_DBA2J_G0031254
 protein coding gene Chr6:134694041-134746785 (+)
FVB/NJ MGP_FVBNJ_G0031205
 protein coding gene Chr6:133593997-133642000 (+)
LP/J MGP_LPJ_G0031338
 protein coding gene Chr6:141541279-141594056 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0031245
 protein coding gene Chr6:154591887-154641192 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0031909
 protein coding gene Chr6:139698049-139745023 (+)
PWK/PhJ MGP_PWKPhJ_G0030232
 protein coding gene Chr6:133191755-133237740 (+)
SPRET/EiJ MGP_SPRETEiJ_G0030056
 protein coding gene Chr6:137959899-138024178 (+)
WSB/EiJ MGP_WSBEiJ_G0030598
 protein coding gene Chr6:140339514-140390727 (+)



Homology
more
  • Human Ortholog
    PDE6H, phosphodiesterase 6H
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PDE6H, phosphodiesterase 6H
  • Synonyms
    ACHM6, RCD3
  • Links
    NCBI Gene ID: 5149
    neXtProt AC: NX_Q13956
    UniProt: Q13956

  • Chr Location
    12p12.3; chr12:14973042-14981865 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human PDE6H associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    4 phenotype references
Homozygous mutation of this gene does not affect the retina or photoreceptor function.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    11
  • GO References
    6
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
non-membrane-bounded 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
    815
  • Tissues
    97
  • cDNA Data
    10
  • Literature Summary
    7
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 78600 NCBI Gene Model | MGI Sequence Detail 11268 C57BL/6J ±  kb
transcript NM_023898 RefSeq | MGI Sequence Detail 574 C57BL/6  
polypeptide P61249 UniProt | EBI | MGI Sequence Detail 83 Not Applicable  
For the selected sequence
Protein
Information
less
  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000012483 retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma
    (term hierarchy)
  • EC
    3.1.4.35
  • InterPro Domains
    IPR006952 Retinal cGMP phosphodiesterase, gamma subunit
    IPR037030 Retinal cGMP phosphodiesterase, gamma subunit superfamily
Molecular
Reagents
less
  • All nucleic 11
    cDNA 10
    Primer pair 1

    Microarray probesets 3
References
more
  • Summaries
    All 37
    Developmental Gene Expression 7
    Gene Ontology 6
    Phenotypes 4
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:274446 Wei W, et al., Requirement of the Mowat-Wilson Syndrome Gene Zeb2 in the Differentiation and Maintenance of Non-photoreceptor Cell Types During Retinal Development. Mol Neurobiol. 2019 Mar;56(3):1719-1736
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)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
04/16/2024
MGI 6.23 		The Jackson Laboratory