Home > Gene Browser > PDE4B

PDE4B

Synonyms
DPDE4, PDEIVB
External resources
Summary
This gene is a member of the type IV, cyclic AMP (cAMP)-specific, cyclic nucleotide phosphodiesterase (PDE) family. The encoded protein regulates the cellular concentrations of cyclic nucleotides and thereby play a role in signal transduction. Altered activity of this protein has been associated with schizophrenia and bipolar affective disorder. Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding different isoforms.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
14
Likely pathogenic
0
VUS
1,673
Likely benign
920
Benign
0

Patient Phenotypes

Proportions of phenotypes among 14 patients carrying pathogenic or likely pathogenic variants on PDE4B gene are displayed below. The following symptoms were found in patients with a variant in PDE4B. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42.9%
Abnormality of the musculoskeletal system
28.6%
Abnormality of head or neck
21.4%
Growth abnormality
21.4%
Abnormality of the cardiovascular system
14.3%
Abnormality of the ear
14.3%
Abnormality of the eye
14.3%
Abnormality of the genitourinary system
14.3%
Abnormality of blood and blood forming tissues
7.1%
Abnormality of metabolism homeostasis
7.1%
Abnormality of the endocrine system
7.1%
Abnormality of the immune system
7.1%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes.