InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PDE6B

Summary

InnateDB Protein

IDBP-5948.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PDE6B

Protein Name

phosphodiesterase 6B, cGMP-specific, rod, beta

Synonyms

CSNB3; CSNBAD2; PDEB; rd1; RP40;

Species

Homo sapiens

Ensembl Protein

ENSP00000255622

InnateDB Gene

IDBG-5946 (PDE6B)

Protein Structure

UniProt Annotation

Function

This protein participates in processes of transmission and amplification of the visual signal. Necessary for the formation of a functional phosphodiesterase holoenzyme.

Subcellular Localization

Membrane; Lipid-anchor.

Disease Associations

Retinitis pigmentosa 40 (RP40) [MIM:613801]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269PubMed:22334370, ECO:0000269PubMed:8394174, ECO:0000269PubMed:8557257, ECO:0000269PubMed:8595886, ECO:0000269PubMed:8698075, ECO:0000269PubMed:8956055, ECO:0000269PubMed:9543643}. Note=The disease is caused by mutations affecting the gene represented in this entry.Night blindness, congenital stationary, autosomal dominant 2 (CSNBAD2) [MIM:163500]: A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. {ECO:0000269PubMed:8075643}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	1 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004114	3',5'-cyclic-nucleotide phosphodiesterase activity
GO:0005515	protein binding
GO:0046872	metal ion binding
GO:0047555	3',5'-cyclic-GMP phosphodiesterase activity

Biological Process

GO:0007165	signal transduction
GO:0007601	visual perception
GO:0007603	phototransduction, visible light
GO:0008152	metabolic process
GO:0016056	rhodopsin mediated signaling pathway
GO:0022400	regulation of rhodopsin mediated signaling pathway
GO:0046037	GMP metabolic process
GO:0051480	cytosolic calcium ion homeostasis

Cellular Component

GO:0005886	plasma membrane
GO:0097381	photoreceptor disc membrane

Protein Structure and Domains

PDB ID

InterPro

IPR002073 3\'5\'-cyclic nucleotide phosphodiesterase, catalytic domain
IPR003018 GAF domain
IPR003607 HD/PDEase domain
IPR023088 3\'5\'-cyclic nucleotide phosphodiesterase
IPR029016 GAF domain-like

PFAM

PF00233
PF01590
PF13185
PF13492

PRINTS

PR00387

PIRSF

SMART

SM00065
SM00471

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt