CHIC2 (cystein-rich hydrophobic domain 2)

2002-02-01 Jean-Loup Huret Affiliation

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

Identity

HGNC

CHIC2

LOCATION

4q12

IMAGE

LEGEND

CHIC2 (4q12) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.

LOCUSID

26511

ALIAS

BTL

FUSION GENES

Show Gene Fusions

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)

100

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Protein levels (Protein atlas)

Not detected

Low

Medium

High

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