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CHIC2 (cystein-rich hydrophobic domain 2)

Written2002-02Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

Alias_namescysteine-rich hydrophobic domain 2
Alias_symbol (synonym)BTL
HGNC (Hugo) CHIC2
LocusID (NCBI) 26511
Atlas_Id 373
Location 4q12  [Link to chromosome band 4q12]
Location_base_pair Starts at 54875958 and ends at 54930815 bp from pter ( according to hg19-Feb_2009)  [Mapping CHIC2.png]
 
  CHIC2 (4q12) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
Fusion genes
(updated 2016)
CHIC2 (4q12) / ADGRL3 (4q13.1)CHIC2 (4q12) / ETV6 (12p13.2)CHIC2 (4q12) / MANBA (4q24)
ETV6 (12p13.2) / CHIC2 (4q12)

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

Note
Entity 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/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.
  

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
 

Citation

This paper should be referenced as such :
Huret, JL
CHIC2 (cystein-rich hydrophobic domain 2)
Atlas Genet Cytogenet Oncol Haematol. 2002;6(2):111-112.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/CHIC2ID373.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 3 ]
  del(4)(q12q12) FIP1L1/PDGFRA
t(4;12)(q12;p13) CHIC2/ETV6
t(4;12)(q12;p13) PDGFRA/ETV6


External links

Nomenclature
HGNC (Hugo)CHIC2   1935
Cards
AtlasCHIC2ID373
Entrez_Gene (NCBI)CHIC2  26511  cysteine rich hydrophobic domain 2
AliasesBTL
GeneCards (Weizmann)CHIC2
Ensembl hg19 (Hinxton)ENSG00000109220 [Gene_View]  chr4:54875958-54930815 [Contig_View]  CHIC2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000109220 [Gene_View]  chr4:54875958-54930815 [Contig_View]  CHIC2 [Vega]
ICGC DataPortalENSG00000109220
TCGA cBioPortalCHIC2
AceView (NCBI)CHIC2
Genatlas (Paris)CHIC2
WikiGenes26511
SOURCE (Princeton)CHIC2
Genetics Home Reference (NIH)CHIC2
Genomic and cartography
GoldenPath hg19 (UCSC)CHIC2  -     chr4:54875958-54930815 -  4q12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CHIC2  -     4q12   [Description]    (hg38-Dec_2013)
EnsemblCHIC2 - 4q12 [CytoView hg19]  CHIC2 - 4q12 [CytoView hg38]
Mapping of homologs : NCBICHIC2 [Mapview hg19]  CHIC2 [Mapview hg38]
OMIM604332   
Gene and transcription
Genbank (Entrez)AF159423 AK312427 BC034691 BI828538 DA746525
RefSeq transcript (Entrez)NM_012110
RefSeq genomic (Entrez)NC_000004 NC_018915 NG_028924 NT_022853 NW_004929319
Consensus coding sequences : CCDS (NCBI)CHIC2
Cluster EST : UnigeneHs.335393 [ NCBI ]
CGAP (NCI)Hs.335393
Alternative Splicing GalleryENSG00000109220
Gene ExpressionCHIC2 [ NCBI-GEO ]   CHIC2 [ EBI - ARRAY_EXPRESS ]   CHIC2 [ SEEK ]   CHIC2 [ MEM ]
Gene Expression Viewer (FireBrowse)CHIC2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)26511
GTEX Portal (Tissue expression)CHIC2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UKJ5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UKJ5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UKJ5
Splice isoforms : SwissVarQ9UKJ5
PhosPhoSitePlusQ9UKJ5
Domains : Interpro (EBI)Golgin_A_7/ERF4   
Domain families : Pfam (Sanger)Erf4 (PF10256)   
Domain families : Pfam (NCBI)pfam10256   
Conserved Domain (NCBI)CHIC2
DMDM Disease mutations26511
Blocks (Seattle)CHIC2
SuperfamilyQ9UKJ5
Human Protein AtlasENSG00000109220
Peptide AtlasQ9UKJ5
HPRD10373
IPIIPI00015878   IPI00964158   IPI00964685   
Protein Interaction databases
DIP (DOE-UCLA)Q9UKJ5
IntAct (EBI)Q9UKJ5
FunCoupENSG00000109220
BioGRIDCHIC2
STRING (EMBL)CHIC2
ZODIACCHIC2
Ontologies - Pathways
QuickGOQ9UKJ5
Ontology : AmiGOmolecular_function  protein binding  cellular_component  Golgi-associated vesicle  plasma membrane  Golgi to plasma membrane transport  biological_process  
Ontology : EGO-EBImolecular_function  protein binding  cellular_component  Golgi-associated vesicle  plasma membrane  Golgi to plasma membrane transport  biological_process  
NDEx NetworkCHIC2
Atlas of Cancer Signalling NetworkCHIC2
Wikipedia pathwaysCHIC2
Orthology - Evolution
OrthoDB26511
GeneTree (enSembl)ENSG00000109220
Phylogenetic Trees/Animal Genes : TreeFamCHIC2
HOVERGENQ9UKJ5
HOGENOMQ9UKJ5
Homologs : HomoloGeneCHIC2
Homology/Alignments : Family Browser (UCSC)CHIC2
Gene fusions - Rearrangements
Fusion : MitelmanCHIC2/ETV6 [4q12/12p13.2]  
Fusion : MitelmanCHIC2/LPHN3 [4q12/t(4;4)(q12;q13)]  
Fusion: TCGACHIC2 4q12 MANBA 4q24 LUAD
Fusion : TICdbCHIC2 [4q12]  -  ETV6 [12p13.2]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCHIC2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CHIC2
dbVarCHIC2
ClinVarCHIC2
1000_GenomesCHIC2 
Exome Variant ServerCHIC2
ExAC (Exome Aggregation Consortium)CHIC2 (select the gene name)
Genetic variants : HAPMAP26511
Genomic Variants (DGV)CHIC2 [DGVbeta]
DECIPHER (Syndromes)4:54875958-54930815  ENSG00000109220
CONAN: Copy Number AnalysisCHIC2 
Mutations
ICGC Data PortalCHIC2 
TCGA Data PortalCHIC2 
Broad Tumor PortalCHIC2
OASIS PortalCHIC2 [ Somatic mutations - Copy number]
Cancer Gene: CensusCHIC2 
Somatic Mutations in Cancer : COSMICCHIC2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCHIC2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CHIC2
DgiDB (Drug Gene Interaction Database)CHIC2
DoCM (Curated mutations)CHIC2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CHIC2 (select a term)
intoGenCHIC2
NCG5 (London)CHIC2
Cancer3DCHIC2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604332   
Orphanet
MedgenCHIC2
Genetic Testing Registry CHIC2
NextProtQ9UKJ5 [Medical]
TSGene26511
GENETestsCHIC2
Huge Navigator CHIC2 [HugePedia]
snp3D : Map Gene to Disease26511
BioCentury BCIQCHIC2
ClinGenCHIC2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD26511
Chemical/Pharm GKB GenePA26466
Clinical trialCHIC2
Miscellaneous
canSAR (ICR)CHIC2 (select the gene name)
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCHIC2
EVEXCHIC2
GoPubMedCHIC2
iHOPCHIC2
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Nov 18 19:57:45 CET 2016

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jlhuret@AtlasGeneticsOncology.org.