| Written | 2002-02 | Jean-Loup Huret |
| Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
| Identity |
| Alias_names | cysteine-rich hydrophobic domain 2 |
| Alias_symbol (synonym) | BTL |
| Other alias | BTL (Brx-like translocated in leukemia) |
| HGNC (Hugo) | CHIC2 |
| LocusID (NCBI) | 26511 |
| Atlas_Id | 373 |
| Location | 4q12 [Link to chromosome band 4q12] |
| Location_base_pair | Starts at 54009791 and ends at 54064648 bp from pter ( according to hg19-Feb_2009) [Mapping CHIC2.png] |
 | |
| CHIC2 (4q12) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. | |
| Fusion genes (updated 2017) | Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands) |
| CHIC2 (4q12) / ADGRL3 (4q13.1) | CHIC2 (4q12) / ETV6 (12p13.2) | CHIC2 (4q12) / MANBA (4q24) | |
| ETV6 (12p13.2) / CHIC2 (4q12) |
| 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 |
| Note | |
| Entity | t(4;12)(q11;p13) in acute non lymphocytic leukemia (AML) |
| Disease | these t(4;12)(q11;p13) are often M0-AML, 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. |
| 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 |
| Citation |
| This paper should be referenced as such : |
| Huret, JL |
| CHIC2 (cystein-rich hydrophobic domain 2) |
| Atlas Genet Cytogenet Oncol Haematol. 2002;6(2):111-112. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Genes/CHIC2ID373.html |
| Other Leukemias implicated (Data extracted from papers in the Atlas) [ 4 ] |
|
del(4)(q12q12) FIP1L1/PDGFRA
Myeloid/Lymphoid neoplasms with abnormalities of PDGFRA t(4;12)(q12;p13) CHIC2/ETV6 t(4;12)(q12;p13) PDGFRA/ETV6 |
| External links |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Thu Oct 12 16:18:58 CEST 2017 |
For comments and suggestions or contributions, please contact us