| Identity |
| Other names | BTL (Brx-like translocated in leukemia) |
| Hugo | CHIC2 |
| Location | 4q11-q12 |
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| CHIC2 (4q12) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. Laboratories willing to validate the probes are welcome : contact rocchi@biologia.uniba.it | |
| DNA/RNA |
| Description | 495 bp open reading frame |
| Transcription | 1034 bp mRNA |
| Protein |
| Description | 165 amino acids with a hydrophobic domain (transmembrane domain) |
| Localisation | vesicular structures and the plasma membrane |
| Function | member of a highly conserved family of proteins with a cysteine-rich hydrophobic (CHIC) motif; resemble the cysteine string proteins, which function in exocytosis. |
| Implicated in |
| Entity | t(4;12)(q11;p13) in acute non lymphocytic leukemia (ANLL) |
| Disease | these t(4;12)(q11;p13) are often M0-ANLL, with CD7+, CD13+, CD33+ immature myeloid phenotype |
| Hybrid/Mutated Gene | 5' CHIC2 - 3' ETV6 |
| Abnormal Protein | N term CHIC2 with the first 110 amino acids (exons 1 to 3) fused to the441 C term amino acids (exons 2 to 8) of ETV6. |
| External links |
| Bibliography |
| Fusion of a novel gene, BTL, to ETV6 in acute myeloid leukemias with a t(4;12)(q11-q12;p13). |
| Cools J, Bilhou-Nabera C, Wlodarska I, Cabrol C, Talmant P, Bernard P, Hagemeijer A, Marynen P |
| Blood. 1999 ; 94 (5) : 1820-1824. |
| PMID 10477709 |
| A new family of small, palmitoylated, membrane-associated proteins, characterized by the presence of a cysteine-rich hydrophobic motif. |
| Cools J, Mentens N, Marynen P |
| FEBS letters. 2001 ; 492 (3) : 204-209. |
| PMID 11257495 |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| Contributor(s) |
| Written | 02-2002 | Jean-Loup Huret |
| Citation |
| This paper should be referenced as such : |
| Huret JL . CHIC2 (cystein-rich hydrophobic domain 2). Atlas Genet Cytogenet Oncol Haematol. February 2002 . URL : http://AtlasGeneticsOncology.org/Genes/CHIC2ID373.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Wed Jul 2 08:22:44 2008 |
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