TCL1A
TCL1 family AKT coactivator A
Summary
Overexpression of the TCL1 gene in humans has been implicated in the development of mature T cell leukemia, in which chromosomal rearrangements bring the TCL1 gene in close proximity to the T-cell antigen receptor (TCR)-alpha (MIM 186880) or TCR-beta (MIM 186930) regulatory elements (summarized by Virgilio et al., 1998 [PubMed 9520462]). In normal T cells TCL1 is expressed in CD4-/CD8- cells, but not in cells at later stages of differentiation. TCL1 functions as a coactivator of the cell survival kinase AKT (MIM 164730) (Laine et al., 2000 [PubMed 10983986]).[supplied by OMIM, Jul 2010]
Known Variants9 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs11849538 | 14:96,175,978 | C/G | downstream gene variant | — |
| rs142206584 | 14:96,178,576 | C/T | — | uncertain significance |
| rs775321262 | 14:96,178,673 | G/A | — | uncertain significance |
| rs2503568862 | 14:96,180,316 | T/G | — | uncertain significance |
| rs1484284125 | 14:96,180,334 | A/T | — | uncertain significance |
| rs769516941 | 14:96,180,369 | G/A | — | uncertain significance |
| rs75353825 | 14:96,180,373 | C/T | — | benign |
| rs2887399 | 14:96,180,695 | G/A | — | — |
| rs139012944 | 14:96,180,705 | C/T | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.