CHIC2 (cystein-rich hydrophobic domain 2)
2002-02-01 Jean-Loup Huret AffiliationGenetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Identity
HGNC
LOCATION
4q12
IMAGE
LEGEND
CHIC2 (4q12) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
LOCUSID
ALIAS
BTL
FUSION GENES
DNA/RNA
Description
495 bp open reading frame
Transcription
1034 bp mRNA
Proteins
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 name
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 gene
5 CHIC2 - 3 ETV6
Fusion 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.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 10477709 | 1999 | Fusion of a novel gene, BTL, to ETV6 in acute myeloid leukemias with a t(4;12)(q11-q12;p13). | Cools J et al |
| 11257495 | 2001 | A new family of small, palmitoylated, membrane-associated proteins, characterized by the presence of a cysteine-rich hydrophobic motif. | Cools J et al |
Other Information
Locus ID:
NCBI: 26511
MIM: 604332
HGNC: 1935
Ensembl: ENSG00000109220
Variants:
dbSNP: 26511
ClinVar: 26511
TCGA: ENSG00000109220
COSMIC: CHIC2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000109220 | ENST00000263921 | Q9UKJ5 |
| ENSG00000109220 | ENST00000510894 | H0Y8H1 |
| ENSG00000109220 | ENST00000512964 | D6RDW7 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 19118897 | 2009 | Validation of a new three-color fluorescence in situ hybridization (FISH) method to detect CHIC2 deletion, FIP1L1/PDGFRA fusion and PDGFRA translocations. | 2 |
| 19118897 | 2009 | Validation of a new three-color fluorescence in situ hybridization (FISH) method to detect CHIC2 deletion, FIP1L1/PDGFRA fusion and PDGFRA translocations. | 2 |
| 12842979 | 2003 | CHIC2 deletion, a surrogate for FIP1L1-PDGFRA fusion, occurs in systemic mastocytosis associated with eosinophilia and predicts response to imatinib mesylate therapy. | 53 |
| 12842979 | 2003 | CHIC2 deletion, a surrogate for FIP1L1-PDGFRA fusion, occurs in systemic mastocytosis associated with eosinophilia and predicts response to imatinib mesylate therapy. | 53 |
Citation
Jean-Loup Huret
CHIC2 (cystein-rich hydrophobic domain 2)
Atlas Genet Cytogenet Oncol Haematol. 2002-02-01
Online version: http://atlasgeneticsoncology.org/gene/373/chic2
