CHIC2 (cystein-rich hydrophobic domain 2)

2002-02-01   Jean-Loup Huret 

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Identity

HGNC
LOCATION
4q12
IMAGE
Atlas 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.

Bibliography

Pubmed IDLast YearTitleAuthors

Other Information

Locus ID:

NCBI: 26511
MIM: 604332
HGNC: 1935
Ensembl: ENSG00000109220

Variants:

dbSNP: 26511
ClinVar: 26511
TCGA: ENSG00000109220
COSMIC: CHIC2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000109220ENST00000263921Q9UKJ5
ENSG00000109220ENST00000510894H0Y8H1
ENSG00000109220ENST00000512964D6RDW7

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
128429792003CHIC2 deletion, a surrogate for FIP1L1-PDGFRA fusion, occurs in systemic mastocytosis associated with eosinophilia and predicts response to imatinib mesylate therapy.45
191188972009Validation of a new three-color fluorescence in situ hybridization (FISH) method to detect CHIC2 deletion, FIP1L1/PDGFRA fusion and PDGFRA translocations.1

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-(cystein-rich-hydrophobic-domain-2)