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Pde6b
Gene Detail
Symbol

Name
ID
Pde6b
phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide
MGI:97525
Synonyms
nmf137, Pdeb, r, rd, rd1, rd10
Feature Type
protein coding gene
Genetic Map
Chromosome 5
53.07 cM
Detailed Genetic Map ± 1 cM


Mapping data(49)
Sequence Map
Chr5:108388391-108432397 bp, + strand
From VEGA annotation of GRCm38

  44007 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:237  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: PDE6B
Protein SuperFamily: 3',5'-cyclic-GMP phosphodiesterase alpha chain
Gene Tree: Pde6b

Human
homologs
PDE6B, phosphodiesterase 6B, cGMP-specific, rod, beta
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 5158
neXtProt AC: NX_P35913

Human Synonyms: CSNB3, CSNBAD2, PDEB, rd1, RP40

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

Disease Associations: (2) Diseases Associated with Human PDE6B

Mutations,
alleles, and
phenotypes
All mutations/alleles(15) : Chemically induced (ENU)(9) Spontaneous(2) Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled in Mice Using Pde6b (3)    Mutations Annotated to Human Diseases (11)    Phenotype Images(1)
Interactions
Pde6b interacts with 45 markers (Mir17, Mir20b, Mir26a-2, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (5 records)
Data Summary: Results (116)    Tissues (102)    Images (2)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 96
RT-PCR 20
cDNA source data(133)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: ZFIN pde6b    NEW 
Molecular
reagents
All nucleic(149) Genomic(11) cDNA(133) Primer pair(3) Other(2)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000026326 (Evidence)
Ensembl Gene Model ENSMUSG00000029491 (Evidence)
Entrez Gene 18587 (Evidence)
UniGene 1372
DFCI TC1576890, TC1603587, TC1623077
DoTS DT.55240978, DT.91368415, DT.97413672
NIA Mouse Gene Index U005950
EC 3.1.4.35
Consensus CDS Project CCDS19510.1
International Mouse Phenotyping Consortium Status Pde6b
Sequences
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 sequences
All sequences(41) RefSeq(2) UniProt(6)
Polymorphisms
RFLP(8) : SNPs within 2kb(383 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR023088 3'5'-cyclic nucleotide phosphodiesterase
InterPro IPR002073 3'5'-cyclic nucleotide phosphodiesterase, catalytic domain
InterPro IPR023174 3'5'-cyclic nucleotide phosphodiesterase, conserved site
InterPro IPR003018 GAF domain
InterPro IPR003607 HD/PDEase domain
Protein Ontology PR:000012479 rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta
References
(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:221384 Meng R, et al., Defective release of alpha granule and lysosome contents from platelets in mouse Hermansky-Pudlak syndrome models. Blood. 2015 Mar 5;125(10):1623-32
All references(416)
Disease annotation references (17)
Other
accession IDs
MGD-MRK-13209, MGD-MRK-13742, MGD-MRK-13807, MGD-MRK-13808, MGD-MRK-13811, MGI:2157069

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory