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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 (NCBI)BTL (Brx-like translocated in leukemia)
HGNC (Hugo) CHIC2
HGNC Alias symbBTL
HGNC Previous namecysteine-rich hydrophobic domain 2
LocusID (NCBI) 26511
Atlas_Id 373
Location 4q12  [Link to chromosome band 4q12]
Location_base_pair Starts at 54009791 and ends at 54064605 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping CHIC2.png]
 
  CHIC2 (4q12) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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 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 ]


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 5 ]
  del(4)(q12q12) FIP1L1::PDGFRA
Myeloid::Lymphoid neoplasms with abnormalities of PDGFRA
t(4;12)(q12;p13) CHIC2::ETV6
t(4;12)(q12;p13) PDGFRA::ETV6
Therapy-Related Hematopoietic Neoplasia


External links

 

Nomenclature
HGNC (Hugo)CHIC2   1935
Cards
AtlasCHIC2ID373
Entrez_Gene (NCBI)CHIC2    cysteine rich hydrophobic domain 2
AliasesBTL
GeneCards (Weizmann)CHIC2
Ensembl hg19 (Hinxton)ENSG00000109220 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000109220 [Gene_View]  ENSG00000109220 [Sequence]  chr4:54009791-54064605 [Contig_View]  CHIC2 [Vega]
ICGC DataPortalENSG00000109220
TCGA cBioPortalCHIC2
AceView (NCBI)CHIC2
Genatlas (Paris)CHIC2
SOURCE (Princeton)CHIC2
Genetics Home Reference (NIH)CHIC2
Genomic and cartography
GoldenPath hg38 (UCSC)CHIC2  -     chr4:54009791-54064605 -  4q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CHIC2  -     4q12   [Description]    (hg19-Feb_2009)
GoldenPathCHIC2 - 4q12 [CytoView hg19]  CHIC2 - 4q12 [CytoView hg38]
ImmunoBaseENSG00000109220
Genome Data Viewer NCBICHIC2 [Mapview hg19]  
OMIM601626   604332   
Gene and transcription
Genbank (Entrez)AF159423 AK312427 BC034691 BI828538 DA746525
RefSeq transcript (Entrez)NM_012110
Consensus coding sequences : CCDS (NCBI)CHIC2
Gene ExpressionCHIC2 [ NCBI-GEO ]   CHIC2 [ EBI - ARRAY_EXPRESS ]   CHIC2 [ SEEK ]   CHIC2 [ MEM ]
Gene Expression Viewer (FireBrowse)CHIC2 [ Firebrowse - Broad ]
GenevisibleExpression of CHIC2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)26511
GTEX Portal (Tissue expression)CHIC2
Human Protein AtlasENSG00000109220-CHIC2 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ9UKJ5
Domains : Interpro (EBI)CHIC1/2    Golgin_A_7/ERF4   
Domain families : Pfam (Sanger)Erf4 (PF10256)   
Domain families : Pfam (NCBI)pfam10256   
Conserved Domain (NCBI)CHIC2
SuperfamilyQ9UKJ5
AlphaFold pdb e-kbQ9UKJ5   
Human Protein Atlas [tissue]ENSG00000109220-CHIC2 [tissue]
HPRD10373
Protein Interaction databases
DIP (DOE-UCLA)Q9UKJ5
IntAct (EBI)Q9UKJ5
BioGRIDCHIC2
STRING (EMBL)CHIC2
ZODIACCHIC2
Ontologies - Pathways
QuickGOQ9UKJ5
Ontology : AmiGOmolecular_function  protein binding  Golgi apparatus  Golgi-associated vesicle  plasma membrane  plasma membrane  biological_process  intracellular membrane-bounded organelle  
Ontology : EGO-EBImolecular_function  protein binding  Golgi apparatus  Golgi-associated vesicle  plasma membrane  plasma membrane  biological_process  intracellular membrane-bounded organelle  
NDEx NetworkCHIC2
Atlas of Cancer Signalling NetworkCHIC2
Wikipedia pathwaysCHIC2
Orthology - Evolution
OrthoDB26511
GeneTree (enSembl)ENSG00000109220
Phylogenetic Trees/Animal Genes : TreeFamCHIC2
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 : QuiverCHIC2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCHIC2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CHIC2
dbVarCHIC2
ClinVarCHIC2
MonarchCHIC2
1000_GenomesCHIC2 
Exome Variant ServerCHIC2
GNOMAD BrowserENSG00000109220
Varsome BrowserCHIC2
ACMGCHIC2 variants
VarityQ9UKJ5
Genomic Variants (DGV)CHIC2 [DGVbeta]
DECIPHERCHIC2 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DCHIC2
Mutations and Diseases : HGMDCHIC2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaCHIC2
DgiDB (Drug Gene Interaction Database)CHIC2
DoCM (Curated mutations)CHIC2
CIViC (Clinical Interpretations of Variants in Cancer)CHIC2
OncoKBCHIC2
NCG (London)CHIC2
Cancer3DCHIC2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601626    604332   
Orphanet
DisGeNETCHIC2
MedgenCHIC2
Genetic Testing Registry CHIC2
NextProtQ9UKJ5 [Medical]
GENETestsCHIC2
Target ValidationCHIC2
Huge Navigator CHIC2 [HugePedia]
ClinGenCHIC2
Clinical trials, drugs, therapy
MyCancerGenomeCHIC2
Protein Interactions : CTDCHIC2
Pharm GKB GenePA26466
PharosQ9UKJ5
Clinical trialCHIC2
Miscellaneous
canSAR (ICR)CHIC2
HarmonizomeCHIC2
DataMed IndexCHIC2
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCHIC2
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 Oct 8 21:15:01 CEST 2021

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For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.