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TCF3

Synonyms
AGM8, E2A, E47, ITF1, TCF-3, VDIR, bHLHb21, p75
External resources
Summary
This gene encodes a member of the E protein (class I) family of helix-loop-helix transcription factors. E proteins activate transcription by binding to regulatory E-box sequences on target genes as heterodimers or homodimers, and are inhibited by heterodimerization with inhibitor of DNA-binding (class IV) helix-loop-helix proteins. E proteins play a critical role in lymphopoiesis, and the encoded protein is required for B and T lymphocyte development. Deletion of this gene or diminished activity of the encoded protein may play a role in lymphoid malignancies. This gene is also involved in several chromosomal translocations that are associated with lymphoid malignancies including pre-B-cell acute lymphoblastic leukemia (t(1;19), with PBX1), childhood leukemia (t(19;19), with TFPT) and acute leukemia (t(12;19), with ZNF384). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
56
Likely pathogenic
0
VUS
5,693
Likely benign
20,871
Benign
22,479

Patient phenotypes

Proportions of phenotypes among 37 patients carrying pathogenic or likely pathogenic variants on TCF3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
32.4%
Abnormality of the musculoskeletal system
24.3%
Abnormality of head or neck
21.6%
Abnormality of the eye
18.9%
Abnormality of the ear
10.8%
Abnormality of the genitourinary system
8.1%
Growth abnormality
8.1%
Abnormality of limbs
5.4%
Abnormality of the immune system
5.4%
Constitutional symptom
5.4%
Abnormality of blood and blood-forming tissues
2.7%
Abnormality of the cardiovascular system
2.7%
Abnormality of the digestive system
2.7%
Abnormality of the endocrine system
2.7%
Abnormality of the integument
2.7%
Neoplasm
2.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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