Disease relevance of TCF12

• In addition, intron 5 in the TCF12 gene corresponds to the region involved in a translocation, t(9;15)(q22;q21), that results in a form of extraskeletal myxoid chondrosarcoma [1].
• Interactions of HTF4 with E-box motifs in the long terminal repeat of human immunodeficiency virus type 1 [2].
• Subsequently, the E2A/HEB-induced TCR gene recombination patterns were compared with those in early thymocytes and acute lymphoblastic leukemias of T- and B-lineage origin, and it was found that the TCR rearrangements in the transfectants were early (immature) and not necessarily T-lineage specific [3].

Psychiatry related information on TCF12

• The data suggest that a complex interplay of activators (Hash-2, HEB) and repressors (Stra13, I-mfa) could be involved in extravillous trophoblast differentiation whereas downregulation of Id proteins could play a role in syncytialisation [4].

High impact information on TCF12

• Moreover, enforced expression of SCL-LMO1 inhibits T cell differentiation and recapitulates a loss of HEB function, causing a deregulation of the transition checkpoint from the CD4-CD8- to CD4+CD8+ stages [5].
• The class I helix-loop-helix (HLH) proteins, which include E2A, HEB, and E2-2, have been shown to be required for lineage-specific gene expression during T and B lymphocyte development [6].
• Here we show that E2A and a closely related protein, HEB, in the presence of recombination activating gene (RAG)1 and RAG2, each have the ability to activate TCR gamma and delta rearrangement in human kidney cells [7].
• Induction of a diverse T cell receptor gamma/delta repertoire by the helix-loop-helix proteins E2A and HEB in nonlymphoid cells [7].
• We also show that pTa promoter contains a conserved tandem E box site activated by E protein, HEB [8].

Biological context of TCF12

• Fluorescence in situ hybridization further localized TCF12 to chromosome 15q21 [9].
• The catfish CFEB (HEB homolog) sequence identified homologous E-protein-encoding sequences in five scaffolds in the Takifugu genome database [10].
• Finally, HEB was able to activate gene expression [11].
• We have isolated a cDNA for a human B-HLH factor, denoted HEB, that shares nearly complete identity in the B-HLH domain with the immunoglobulin enhancer binding proteins encoded by the E2A and ITF2 genes (E proteins) [11].
• The example describes identification and mapping in the human genome, the paralogs of TCF12/HTF4 [12].

Anatomical context of TCF12

• Toward this goal, we examined a panel of somatic cell hybrids and assigned the gene (TCF12) encoding the helix-loop-helix transcription factors 4 (HTF4) to chromosome 15 [9].
• The major expressed E proteins found in catfish B cells are homologs of HEB and of E2A [10].
• Northern analysis revealed that the relative abundance of HTF4 gene transcripts is not constant but varies depending on the human cell-line or tissue examined [9].
• Lymphocyte development and differentiation are regulated by the basic helix-loop-helix (bHLH) transcription factors encoded by the E2A and HEB genes [13].
• Acinar-like activity of the enhancer can be reconstituted in HeLa cells by the introduction of P48, HEB, and the PDX1-containing trimeric homeodomain complex that binds the second pancreatic element of the enhancer [14].

Associations of TCF12 with chemical compounds

• The translocation separates the NH2-terminal domain of TCF12 from the bHLH domain as well as from a potential leucine zipper domain located immediately downstream of the breakpoint [15].
• A screen for trans-acting factors binding to the enhancer region of the alpha-subunit gene of the acetylcholine receptor identified CTF4, a ubiquitously expressed and alternatively spliced chicken homologue of the human E protein transcription factor HTF4/HEB [16].
• In the N group no significant differences were noted between the three leg levels whether the 40% O2 or the HEB was used or not (P less than 0.05) [17].

Other interactions of TCF12

• Single genes orthologous to HEB and to E2-2 were identified [10].
• In addition, by forming a complex with HTF4 in solution, TAL1 could exert a negative effect on the interactions of HTF4 with elements that include E box motifs of microE2 (CAGCTG) and kappa E2/microE5 (CACCTG) type [18].
• In addition, HEB was shown to form hetero-oligomers with the E12 and ITF2 proteins [11].
• HTF4: a new human helix-loop-helix protein [19].
• The chimeric transcript encodes a protein in which the first 108 amino acids of the NH2-terminus of the basic helix-loop-helix (bHLH) protein TCF12 is linked to the entire TEC protein [15].

Analytical, diagnostic and therapeutic context of TCF12

• In contrast, HEB was identified in all trophoblast cell types using RT-PCR, Western blotting and immunohistochemistry [4].
• These results suggest that neither the E2A- or HEB-encoded proteins are essential for insulin transcription and that one factor can substitute for the other to impart normal insulin E1 activator function in mutant animals [20].
• We report here that two cell lines, a B lymphoblastoid cell line (Gupta) and a glial cell line (HEB) derived from human embryonal brain tissue, are productively infectable with two distinct isolates of HIV as judged by electron microscopy and immunological and virological studies [21].

References