TCF3 Chromosome 19
Transcription factor 3
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What This Gene Does
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. [provided by RefSeq, Sep 2011]
Gene Info
Gene Group
Basic helix-loop-helix proteins
Locus Type
gene with protein product
Location
19p13.3
Ensembl
ENSG00000071564
Associated Conditions (9)
Agammaglobulinemia 8b
autosomal recessive
Inborn genetic diseases
Agammaglobulinemia 8
autosomal dominant
TCF3-related disorder
Myeloproliferative neoplasm
unclassifiable
Multiple myeloma
Key Variants
RS138005323
Conflicting classifications of pathogenicity
Agammaglobulinemia 8b, autosomal recessive, Agammaglobulinemia 8b
Health Risk
RS139492270
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142145295
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149962284
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1555712474
Conflicting classifications of pathogenicity
Health Risk
RS199682849
Conflicting classifications of pathogenicity
Agammaglobulinemia 8b, autosomal recessive, Agammaglobulinemia 8b
Health Risk
RS201649703
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201841190
Conflicting classifications of pathogenicity
Agammaglobulinemia 8, autosomal dominant, Agammaglobulinemia 8b
Health Risk
RS202212254
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2074888
Conflicting classifications of pathogenicity
Myeloproliferative neoplasm, unclassifiable, Myeloproliferative neoplasm
Health Risk
RS372696633
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS374229587
Conflicting classifications of pathogenicity
Agammaglobulinemia 8, autosomal dominant, Agammaglobulinemia 8b
Health Risk
All Variants (40)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138005323 | Health Risk | Conflicting classifications of pathogenicity | Agammaglobulinemia 8b, autosomal recessive, Agammaglobulinemia 8b |
| RS139492270 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS142145295 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS149962284 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1555712474 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199682849 | Health Risk | Conflicting classifications of pathogenicity | Agammaglobulinemia 8b, autosomal recessive, Agammaglobulinemia 8b |
| RS201649703 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201841190 | Health Risk | Conflicting classifications of pathogenicity | Agammaglobulinemia 8, autosomal dominant, Agammaglobulinemia 8b |
| RS202212254 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2074888 | Health Risk | Conflicting classifications of pathogenicity | Myeloproliferative neoplasm, unclassifiable, Myeloproliferative neoplasm |
| RS372696633 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS374229587 | Health Risk | Conflicting classifications of pathogenicity | Agammaglobulinemia 8, autosomal dominant, Agammaglobulinemia 8b |
| RS537417919 | Health Risk | Conflicting classifications of pathogenicity | Myeloproliferative neoplasm, unclassifiable, Myeloproliferative neoplasm |
| RS7252811 | Health Risk | Conflicting classifications of pathogenicity | Agammaglobulinemia 8b, autosomal recessive, Agammaglobulinemia 8 |
| RS747579840 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS747799051 | Health Risk | Conflicting classifications of pathogenicity | Agammaglobulinemia 8b, autosomal recessive, Inborn genetic diseases |
| RS750644305 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS752741173 | Health Risk | Conflicting classifications of pathogenicity | Agammaglobulinemia 8, autosomal dominant, Agammaglobulinemia 8b |
| RS759917180 | Health Risk | Conflicting classifications of pathogenicity | Agammaglobulinemia 8b, autosomal recessive, Inborn genetic diseases |
| RS765330837 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1599413207 | Health Risk | Likely pathogenic | Multiple myeloma, Multiple myeloma |
| RS2063809984 | Health Risk | Likely pathogenic | — |
| RS2146146055 | Health Risk | Likely pathogenic | — |
| RS2513527846 | Health Risk | Likely pathogenic | — |
| RS2513852010 | Health Risk | Likely pathogenic | — |
| RS772072192 | Health Risk | Likely pathogenic | — |
| RS1159477032 | Health Risk | Pathogenic | — |
| RS143529809 | Health Risk | Pathogenic | — |
| RS2061880735 | Health Risk | Pathogenic | Agammaglobulinemia 8, autosomal dominant, Agammaglobulinemia 8 |
| RS2145991929 | Health Risk | Pathogenic | — |
| RS2146131822 | Health Risk | Pathogenic | Agammaglobulinemia 8b, autosomal recessive, Agammaglobulinemia 8b |
| RS2513477443 | Health Risk | Pathogenic | — |
| RS2513492203 | Health Risk | Pathogenic | — |
| RS2513492691 | Health Risk | Pathogenic | — |
| RS2513659434 | Health Risk | Pathogenic | — |
| RS2513664406 | Health Risk | Pathogenic | — |
| RS2513666225 | Health Risk | Pathogenic | — |
| RS2513937989 | Health Risk | Pathogenic | — |
| RS771807324 | Health Risk | Pathogenic | — |
| RS879255271 | Health Risk | Pathogenic | Agammaglobulinemia 8, autosomal dominant, Inborn genetic diseases |