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JTB Gene
Definition and Synonyms

Definition: Jumping translocation (JT) is an unbalanced translocation that comprises amplified chromosomal segments jumping to various telomeres. The JTB gene (jumping translocation breakpoint) at 1q21 was identified. It is found fused with the telomeric repeats of acceptor telomeres in a case of jumping translocation. The JTB open reading frame encodes a 146-amino acid protein with a 75-amino acid extracellular domain, a 21-amino acid transmembrane domain, and a 20-amino acid intracellular domain. The JTB protein is highly conserved among divergent eukaryotic species. Northern blot analysis showed ubiquitous expression of a 1-kb mRNA, with highest expression in thyroid and skeletal muscle. Kidney and spinal cord expressed an additional transcript of approximately 1.4 kb. Jumping translocations have been reported in leukemia patients, in the Ewing family of tumors, in renal clear cell carcinoma, and in liposarcoma. (from OMIM)

Synonyms: JTB Gene, B PAR, BPAR, HJTB, JTB, PAR, hJT

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