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CPEB2

Synonyms
CPE-BP2, CPEB-2, hCPEB-2
External resources
Summary
The protein encoded by this gene is highly similar to cytoplasmic polyadenylation element binding protein (CPEB), an mRNA-binding protein that regulates cytoplasmic polyadenylation of mRNA as a trans factor in oogenesis and spermatogenesis. Studies of the similar gene in mice suggested a possible role of this protein in transcriptionally inactive haploid spermatids. Alternatively spliced transcript variants encoding distinct isoforms have been described.

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
2,058
Likely pathogenic
0
VUS
13,445
Likely benign
1,353
Benign
0

Patient phenotypes

Proportions of phenotypes among 1861 patients carring pathogenic or likely pathogenic variants on CPEB2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42.9%
Abnormality of the musculoskeletal system
34.1%
Abnormality of the eye
29.2%
Abnormality of head or neck
26.3%
Abnormality of the cardiovascular system
20.5%
Abnormality of the ear
16.4%
Growth abnormality
15.5%
Abnormality of the integument
14.5%
Abnormality of limbs
13.7%
Abnormality of the genitourinary system
11.1%
Abnormality of the digestive system
9.2%
Abnormality of the immune system
6.8%
Abnormality of the respiratory system
5.3%
Abnormality of the endocrine system
5.3%
Abnormality of blood and blood-forming tissues
4.5%
Neoplasm
3.9%
Abnormality of prenatal development or birth
3.7%
Constitutional symptom
1%
Abnormality of the breast
1%
Abnormality of the voice
0.6%
Abnormal cellular phenotype
0.5%
Abnormality of the thoracic cavity
0.1%
Abnormality of metabolism homeostasis
0%

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