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CREB3

Synonyms
LUMAN, LZIP, sLZIP
External resources
Summary
This gene encodes a transcription factor that is a member of the leucine zipper family of DNA binding proteins. This protein binds to the cAMP-response element and regulates cell proliferation. The protein interacts with host cell factor C1, which also associates with the herpes simplex virus (HSV) protein VP16 that induces transcription of HSV immediate-early genes. This protein and VP16 both bind to the same site on host cell factor C1. It is thought that the interaction between this protein and host cell factor C1 plays a role in the establishment of latency during HSV infection. This protein also plays a role in leukocyte migration, tumor suppression, and endoplasmic reticulum stress-associated protein degradation. Additional transcript variants have been identified, but their biological validity has not been determined.

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
1,304
Likely benign
70
Benign
0

Patient phenotypes

Proportions of phenotypes among 14 patients carring pathogenic or likely pathogenic variants on CREB3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
57.1%
Abnormality of the nervous system
57.1%
Abnormality of head or neck
50%
Abnormality of the musculoskeletal system
50%
Abnormality of the digestive system
14.3%
Abnormality of the ear
14.3%
Abnormality of the immune system
14.3%
Abnormality of the respiratory system
14.3%
Abnormality of limbs
7.1%
Abnormality of prenatal development or birth
7.1%
Abnormality of the cardiovascular system
7.1%
Abnormality of the endocrine system
7.1%
Abnormality of the integument
7.1%
Growth abnormality
7.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the genitourinary system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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