PDE6B (phosphodiesterase 6B)

2014-11-01  

Identity

HGNC
PDE6B
LOCATION
4p16.3
LOCUSID
5158
ALIAS
CSNB3,CSNBAD2,GMP-PDEbeta,PDEB,RP40,rd1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5158
MIM: 180072
HGNC: 8786
Ensembl: ENSG00000133256

Variants:

dbSNP: 5158
ClinVar: 5158
TCGA: ENSG00000133256
COSMIC: PDE6B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000133256ENST00000255622P35913
ENSG00000133256ENST00000429163P35913
ENSG00000133256ENST00000461490H7C4F7
ENSG00000133256ENST00000465426C9J628
ENSG00000133256ENST00000471824H7C4P9
ENSG00000133256ENST00000487902C9J7V6
ENSG00000133256ENST00000496514P35913

Expression (GTEx)

0
5
10
15
20
25
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Purine metabolismKEGGko00230
Purine metabolismKEGGhsa00230
PhototransductionKEGGko04744
PhototransductionKEGGhsa04744
Signal TransductionREACTOMER-HSA-162582
Signaling by WntREACTOMER-HSA-195721
Beta-catenin independent WNT signalingREACTOMER-HSA-3858494
Ca2+ pathwayREACTOMER-HSA-4086398
Visual phototransductionREACTOMER-HSA-2187338
The phototransduction cascadeREACTOMER-HSA-2514856
Activation of the phototransduction cascadeREACTOMER-HSA-2485179
Inactivation, recovery and regulation of the phototransduction cascadeREACTOMER-HSA-2514859

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
retina
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
209403012010Rod phosphodiesterase-6 PDE6A and PDE6B subunits are enzymatically equivalent.31
205914862010Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.22
188548722009Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family.19
119437742002The rod cGMP-phosphodiesterase beta-subunit promoter is a specific target for Sp4 and is not activated by other Sp proteins or CRX.16
208015162011Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.11
216553552011Mutations in the β-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa.10
230492402012Microarray-based mutation detection and phenotypic characterization in Korean patients with retinitis pigmentosa.10
248282622014Next-generation sequencing revealed a novel mutation in the gene encoding the beta subunit of rod phosphodiesterase.9
230334842012Identification of amino acid residues responsible for the selectivity of tadalafil binding to two closely related phosphodiesterases, PDE5 and PDE6.8
238821352013Genetic heterogeneity and consanguinity lead to a "double hit": homozygous mutations of MYO7A and PDE6B in a patient with retinitis pigmentosa.8

Citation

Dessen P

PDE6B (phosphodiesterase 6B)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71795/pde6b