Pde6b MGI Mouse Gene Detail - MGI:97525 - phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide

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

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 zebrafish

Protein SuperFamily: 3',5'-cyclic-GMP phosphodiesterase alpha chain
Gene Tree: Pde6b

Human
homologs

Human Homolog		PDE6B, phosphodiesterase 6B, cGMP-specific, rod, beta
NCBI Gene ID		5158
neXtProt AC		NX_P35913
Human Synonyms		CSNB3, CSNBAD2, PDEB, rd1, RP40
Human Chr (Location)		4p16.3; chr4:619363-664681 (+) GRCh37.p10
Disease Associations		(2) Diseases Associated with Human PDE6B

Alleles
and
phenotypes

All alleles(14) : Targeted(3) Spontaneous(2) Chemically induced(9)

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 Using Mouse Pde6b (2) Alleles Annotated to Human Diseases(10) Phenotype Images(1)

Gene Ontology
(GO)
classifications

All GO classifications: (14 annotations)

Process	cytosolic calcium ion homeostasis, detection of light stimulus, ...
Component	membrane
Function	3',5'-cyclic-GMP phosphodiesterase activity, 3',5'-cyclic-nucleotide phosphodiesterase activity, ...

External Resources: FuncBase

Expression

Literature Summary: (5 records)
Data Summary: Results (116) Tissues (101) Images (2)
Theiler Stages: 15, 17, 19, 20, 21, 22, 28

Assay Type	Results
RNA in situ	96
RT-PCR	20

cDNA source data(135)
External Resources: Allen Institute GEO ArrayExpress

Molecular
reagents

All nucleic(151) Genomic(11) cDNA(135) 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 Knockout Project Status	Pde6b

Sequences

All sequences(41) RefSeq(2) UniProt(6)

Polymorphisms

RFLP(8) : SNPs(279 from dbSNP Build 128)

Protein-related
information

Resource	ID	Description
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:194322 Zencak D, et al., Retinal degeneration depends on Bmi1 function and reactivation of cell cycle proteins. Proc Natl Acad Sci U S A. 2013 Feb 12;110(7):E593-601
All references(372)

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
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