PDE6B

GENE INFORMATION

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Gene name

PDE6B (HGNC Symbol)

Synonyms

CSNB3, PDEB, rd1, RP40

Description

Phosphodiesterase 6B, cGMP-specific, rod, beta (HGNC Symbol)

Entrez gene summary

Photon absorption triggers a signaling cascade in rod photoreceptors that activates cGMP phosphodiesterase (PDE), resulting in the rapid hydrolysis of cGMP, closure of cGMP-gated cation channels, and hyperpolarization of the cell. PDE is a peripheral membrane heterotrimeric enzyme made up of alpha, beta, and gamma subunits. This gene encodes the beta subunit. Mutations in this gene result in retinitis pigmentosa and autosomal dominant congenital stationary night blindness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]

Chromosome

4

Cytoband

p16.3

Chromosome location (bp)

619373 - 664571

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000133256 (version 75.37)

Entrez gene

5158

UniProt

P35913 (UniProt - Evidence at protein level)

neXtProt

NX_P35913

Antibodypedia

PDE6B antibodies
 

PROTEIN VIEW

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PDE6B-001
 
PDE6B-002
 
PDE6B-003
 
PDE6B-006
 
PDE6B-007
 
PDE6B-008
 
PDE6B-011
 
PDE6B-012
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PDE6B-001 ENSP00000255622
ENST00000255622
P35913
Show all »
Show » Show » 853 98.2 No 0
PDE6B-002 ENSP00000420295
ENST00000496514
P35913
Show all »
Show » Show » 854 98.3 No 0
PDE6B-003 ENSP00000406334
ENST00000429163
P35913
Show all »
Show » Show » 575 66.5 No 0
PDE6B-006 ENSP00000418256
ENST00000487902
C9J7V6
Show all »
Show » Show » 97 10.8 No 0
PDE6B-007 ENSP00000418454
ENST00000465426
C9J628
Show all »
Show » Show » 42 5 No 0
PDE6B-008 ENSP00000420228
ENST00000488061
Show » 6 0.8 No 0
PDE6B-011 ENSP00000417852
ENST00000471824
H7C4P9
Show all »
Show » Show » 144 16.9 No 0
PDE6B-012 ENSP00000417178
ENST00000461490
Show » Show » 149 17.4 No 0