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CHIC2 (cystein-rich hydrophobic domain 2)

Identity

Other namesBTL (Brx-like translocated in leukemia)
HGNC (Hugo) CHIC2
Location 4q11-q12
Location_base_pair Starts at 54875958 and ends at 54930788 bp from pter ( according to hg19-Feb_2009)  [Mapping]
 
  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 (Hugo)CHIC2   1935
Entrez_Gene (NCBI)CHIC2  26511  cysteine-rich hydrophobic domain 2
Cards
AtlasCHIC2ID373
GeneCards (Weizmann)CHIC2
Ensembl (Hinxton)ENSG00000109220 [Gene_View]  CHIC2 [Vega]
AceView (NCBI)CHIC2
Genatlas (Paris)CHIC2
euGene (Indiana)26511
SOURCE (Stanford)NM_012110
Gene Expression (Array Express) ENSG00000109220
Genomic and cartography
GoldenPath (UCSC)CHIC2  -     chr4:54875958-54930788 -  4q11   [Description]    (hg19-Feb_2009)
EnsemblCHIC2 - 4q11 [CytoView]
Mapping of homologs : NCBICHIC2 [Mapview]
OMIM601626   604332   
Gene and transcription
Gene : Genbank (Entrez)AF159423 AK312427 BC034691 BI828538 CR611915
Reference sequence (RefSeq transcript) :SRSNM_012110
Reference transcript : EntrezNM_012110
RefSeq genomic : SRSAC_000047 AC_000136 NC_000004 NT_022853 NW_001838913 NW_922162
RefSeq genomic : EntrezAC_000047 AC_000136 NC_000004 NT_022853 NW_001838913 NW_922162
Consensus coding sequences : CCDS NCBICHIC2
Cluster EST : UnigeneHs.335393 [ SRS ] Hs.335393 [ NCBI ]
Alternative Splicing : Fast-db (Paris)4369
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtQ9UKJ5 (SRS) Q9UKJ5 (Expasy) Q9UKJ5 (Uniprot)
With graphics : InterProQ9UKJ5
Splice isoforms : VarSplice FASTAQ9UKJ5(VarSplice FASTA)
Domains : Interpro (SRS)Golgin_A_7/ERF4   
Domains : Interpro (EBI)Golgin_A_7/ERF4   
Related proteins : CluSTrQ9UKJ5
Domain families : Pfam SRSErf4 (PF10256)   
Domain families : Pfam SangerErf4 (PF10256)   
Domain families : Pfam NCBIpfam10256   
Blocks (Seattle)Q9UKJ5
Crystal structure of protein : PDB SRS
Crystal structure of protein : PDBSum
Crystal structure of protein : IMB
Crystal structure of protein : PDB RSDB
Human Protein AtlasENSG00000109220
HPRD10373
Protein Interaction databases
DIP (DOE-UCLA)Q9UKJ5
IntAct (EBI)Q9UKJ5
FunCoupENSG00000109220
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBICHIC2
SNP : GeneSNP UtahCHIC2
SNP : HGBaseCHIC2
Genetic variants : HAPMAPCHIC2
Cancer Gene: CensusCHIC2 
Somatic Mutations in Cancer : COSMICCHIC2 
Translocation Breakpoints in Cancer : TICdbCHIC2 
Mutations and Diseases : HGMDCHIC2
Hereditary diseases : OMIM601626    604332   
Hereditary diseases : GENETests601626    604332   
Diseases : Genetic AssociationCHIC2
General knowledge
Homologs : HomoloGeneCHIC2
Homology/Alignments : Family Browser UCSCCHIC2
Phylogenetic Trees/Animal Genes : TreeFamCHIC2
Chemical/Protein Interactions : CTD26511
Keywords Ontology : AmiGOmolecular_function  protein binding  cellular_component  Golgi apparatus  Golgi-associated vesicle  plasma membrane  biological_process  
Keywords Ontology : EGO-EBImolecular_function  protein binding  cellular_component  Golgi apparatus  Golgi-associated vesicle  plasma membrane  biological_process  
Pathways : BIOCARTA
Pathways : KEGG
Other databases
Probes
ProbeCancer Cytogenetics (Bari)
Probes : ImagenesCHIC2 Related clones (RZPD - Berlin)
Literature
PubMed8 Pubmed reference(s) in Entrez
PubGeneCHIC2

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 articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written02-2002Jean-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

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indexed on : Thu Jul 15 14:42:35 CEST 2010
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