CHIC2 (cystein-rich hydrophobic domain 2)

Identity

Other names	BTL (Brx-like translocated in leukemia)
HGNC	CHIC2
Location	4q11-q12
Location_base_pair	Starts at 54570715 and ends at 54625545 bp from pter ( according to hg18-Mar_2006).
	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

	Nomenclature
HGNC	CHIC2   1935
Entrez_Gene	CHIC2  26511  cysteine-rich hydrophobic domain 2
	Cards
Atlas	CHIC2ID373
GeneCards	CHIC2
Ensembl	ENSG00000109220 [Gene_View]  CHIC2 [Vega]
Genatlas	CHIC2
	Genomic and cartography
GoldenPath	CHIC2  -     chr4:54570715-54625545 -  4q11   [Description]    (hg18-Mar_2006)
Ensembl	CHIC2 - 4q11 [CytoView]
NCBI	Mapview
OMIM	601626 Disease map [OMIM]
OMIM	604332 Disease map [OMIM]
HomoloGene	CHIC2
	Gene and transcription
Genbank	AF159423 [ ENTREZ ]
Genbank	AK312427 [ ENTREZ ]
Genbank	BC034691 [ ENTREZ ]
Genbank	BI828538 [ ENTREZ ]
Genbank	CR611915 [ ENTREZ ]
RefSeq	NM_012110 [ SRS ]    NM_012110 [ ENTREZ ]
RefSeq	AC_000047 [ SRS ]    AC_000047 [ ENTREZ ]
RefSeq	AC_000136 [ SRS ]    AC_000136 [ ENTREZ ]
RefSeq	NC_000004 [ SRS ]    NC_000004 [ ENTREZ ]
RefSeq	NT_022853 [ SRS ]    NT_022853 [ ENTREZ ]
RefSeq	NW_001838913 [ SRS ]    NW_001838913 [ ENTREZ ]
RefSeq	NW_922162 [ SRS ]    NW_922162 [ ENTREZ ]
CCDS	CHIC2 CCDS - NCBI
AceView	CHIC2 AceView - NCBI
Unigene	Hs.335393 [ SRS ]    Hs.335393 [ NCBI ]
Fast-db	4369 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	Q9UKJ5 [ SRS]    Q9UKJ5 [ EXPASY ]     Q9UKJ5 [ INTERPRO ]     Q9UKJ5 [ UNIPROT ] Q9UKJ5 [ VarSplice FASTA ]
CluSTr	Q9UKJ5
Blocks	Q9UKJ5
HPRD	10373
	Protein Interaction databases
DIP	Q9UKJ5
IntAct	Q9UKJ5
	Polymorphism : SNP, mutations, diseases
OMIM	601626    [ map ]
OMIM	604332    [ map ]
GENETests	601626
GENETests	604332
SNP	CHIC2 [dbSNP-NCBI]
SNP	NM_012110 [SNP-NCI]
SNP	CHIC2 [GeneSNPs - Utah]  CHIC2] [HGBASE - SRS]
HAPMAP	CHIC2 [HAPMAP]
COSMIC	CHIC2 [Somatic mutation (COSMIC-CGP-Sanger)]
TICdb	CHIC2 [Translocation breakpoints In Cancer]
HGMD	CHIC2
Genetic Association	CHIC2
CDC HuGE	CHIC2
	General knowledge
Family Browser	CHIC2 [UCSC Family Browser]
SOURCE	NM_012110
SMD	Hs.335393
SAGE	Hs.335393
GO	molecular_function [Amigo]  molecular_function
GO	cellular_component [Amigo]  cellular_component
GO	Golgi apparatus [Amigo]  Golgi apparatus
GO	Golgi-associated vesicle [Amigo]  Golgi-associated vesicle
GO	plasma membrane [Amigo]  plasma membrane
GO	biological_process [Amigo]  biological_process
GO	cytoplasmic vesicle [Amigo]  cytoplasmic vesicle
PubGene	CHIC2
TreeFam	CHIC2
CTD	26511 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	Cancer Cytogenetics (Bari)
Probe	CHIC2 Related clones (RZPD - Berlin)
	PubMed
PubMed	6 Pubmed reference(s) in Entrez

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

Search in all EBI   NCBI

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 : Sat Dec 6 17:54:44 2008