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Pde6h
Gene Detail
Symbol

Name
ID
Pde6h
phosphodiesterase 6H, cGMP-specific, cone, gamma
MGI:1925850
Synonyms
A930033D18Rik, PDEgamma
Feature Type
protein coding gene
Genetic Map
Chromosome 6
66.72 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr6:136954523-136968865 bp, + strand
From VEGA annotation of GRCm38

  14343 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:4522  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: PDE6H
Protein SuperFamily: 3',5'-cyclic-GMP phosphodiesterase, gamma subunit
Gene Tree: Pde6h

Human
homologs
PDE6H, phosphodiesterase 6H, cGMP-specific, cone, gamma
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 5149
neXtProt AC: NX_Q13956

Human Synonyms: ACHM6, RCD3

Human Chr (Location): 12p13; chr12:14973022-14981865 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human PDE6H

Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Gene trapped(4)
Incidental mutations (data from Mutagenetix , APF , CvDC )
Interactions
Pde6h interacts with 401 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Expression
Literature Summary: (4 records)
Data Summary: Results (98)    Tissues (95)    Images (4)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 98
cDNA source data(9)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase pde6h ; ZFIN pde6h    NEW 
Molecular
reagents
All nucleic(9) cDNA(9)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000023391 (Evidence)
Ensembl Gene Model ENSMUSG00000064330 (Evidence)
Entrez Gene 78600 (Evidence)
UniGene 290622
DFCI TC1587173, TC1709846, TC1607448
DoTS DT.91338629, DT.110476832, DT.101723396
NIA Mouse Gene Index U007503
EC 3.1.4.35
Consensus CDS Project CCDS39686.1
International Mouse Phenotyping Consortium Status Pde6h
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000023391 VEGA Gene Model | MGI Sequence Detail 14343 C57BL/6J ±  kb
transcript OTTMUST00000056777 VEGA | MGI Sequence Detail 5940 Not Applicable 
polypeptide OTTMUSP00000027327 VEGA | MGI Sequence Detail 83 Not Applicable 

For the selected sequences
All sequences(33) RefSeq(6) UniProt(2)
Polymorphisms
SNPs within 2kb(216 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR006952 Retinal cGMP phosphodiesterase, gamma subunit
Protein Ontology PR:000012483 retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma
References
(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:222177 Brennenstuhl C, et al., Targeted ablation of the Pde6h gene in mice reveals cross-species differences in cone and rod phototransduction protein isoform inventory. J Biol Chem. 2015 Apr 17;290(16):10242-55
All references(31)

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
07/21/2015
MGI 5.22
The Jackson Laboratory