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FLASH GENE

Symbol

PDE6B

contributors: mct - updated : 20-12-2022

HGNC name	phosphodiesterase 6B, cGMP-specific, rod, beta (congenital stationary night blindness 3, autosomal dominant)
HGNC id	8786

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ARRP2 retinitis pigmentosa autosomal recessive, 2 CSNB3 blindness night congenital, stationary 3
Location	4p16.3      Physical location : 619.362 - 664.680
Synonym symbol(s)	PDEB, CSNB3, CSNBAD2, GMP-PDEbeta, RP40, rd1
EC.number	3.1.4.35, 3.1.4.17

DNA

TYPE	functioning gene
STRUCTURE	45.21 kb     22 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence
text structure	3prime UTR of the PDE6B mRNA is involved in the complex regulation of this gene expression in the retina

MAPPING

cloned

Y

linked

N

status

confirmed

Map

see D4S10

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000283 22 - 3414 - 854 - 2022 34170501 NM_001145291 22 - 3411 - 853 - 2022 34170501 NM_001145292 20 - 2672 NP_001138764 - 575 - 2022 34170501 NM_001350154 20 - 2607 NP_001337083 - 589 - 2022 34170501 NM_001350155 18 - 2492 NP_001337084 - 483 - 2022 34170501 NM_001379246 20 - 3131 NP_001366175 - 575 - 2022 34170501 NM_001379247 20 - 2649 NP_001366176 - 575 - 2022 34170501

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive mouth tongue     highly Nervous brain       moderately Visual eye       highly Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial sensory visual     Muscular         Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Visual cone photoreceptor Homo sapiens Visual rod photoreceptor Homo sapiens

cell lineage
cell lines
fluid/secretion	blood

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two N terminal cGMP binding domains
	a C terminal catalytic domain

conjugated

LipoP

mono polymer

heteromer , tetramer

HOMOLOGY

interspecies	homolog to murine Rd
	ortholog to murine Pde6b
	ortholog to Cani familiari PDBS

Homologene

FAMILY

cyclic nucleotide phosphodiesterase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic
text	membrane-associated

basic FUNCTION	participating in processes of transmission and amplification of the visual signal
	being necessary for the formation of a functional phosphodiesterase holoenzyme
	central enzyme in the visual transduction cascade
	key effector enzyme of the phototransduction cascade in rods and cones
	catalytic PDE6A and PDE6B subunits are enzymatically equivalent

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

sensory transduction/vision

a component	oligomer composed of two catalytic chains (alpha and beta), an inhibitory chain (gamma) and the delta chain
	prenylation

INTERACTION

DNA

RNA

small molecule

protein

PDE6 holoenzyme consists of catalytic and inhibitory subunits in phototransduction cascade, and PDE6A and PDE6B code for the catalytic and PDE6G the inhibitory subunits in rods

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ARRP2 , CSNB3

related resource

PDE6BMutations Retinal Information Network

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Pde6b knockout rat exhibits photoreceptor degeneration, which may provide a better model for experimental therapy for RP