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ABL2 (Abelson homolog 2)

Written2000-02Jean-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)ARG (Abelson related gene)
ABLL
HGNC (Hugo) ABL2
HGNC Alias symbARG
HGNC Alias nameAbelson-related gene
HGNC Previous nameABLL
HGNC Previous namev-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)
 v-abl Abelson murine leukemia viral oncogene homolog 2
 c-abl oncogene 2, non-receptor tyrosine kinase
LocusID (NCBI) 27
Atlas_Id 226
Location 1q25.2  [Link to chromosome band 1q25]
Location_base_pair Starts at 179099331 and ends at 179229677 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping ABL2.png]
 
  ABL2 (1q25) - 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)
ABL2 (1q25.2)::ABL2 (1q25.2)ABL2 (1q25.2)::COPG1 (3q21.3)ABL2 (1q25.2)::ETV6 (12p13.2)
ABL2 (1q25.2)::HLA-DRB1 (6p21.32)ABL2 (1q25.2)::ZC3HAV1 (7q34)ETV6 (12p13.2)::ABL2 (1q25.2)
H2AFV (7p13)::ABL2 (1q25.2)NR4A3 (9q22.33)::ABL2 (1q25.2)RCSD1 (1q24.2)::ABL2 (1q25.2)
TRAPPC12 (2p25.3)::ABL2 (1q25.2)ZC3HAV1 (7q34)::ABL2 (1q25.2)

DNA/RNA

Transcription alternate splicing in 5 prime; 3.8 kb mRNA; ORF: 3548 bp

Protein

Description 1182 amino acids; 128 kDa; comprises SH3 and SH2 domains, a protein tyrosine kinase domain, a nuclear localization domain
Function cytoplasmic tyrosine kinase
Homology SRC homology; closely related to ABL1

Implicated in

Note
  
Entity --> ABL2-ETV6
Disease acute non lymphocytic leukemia
Abnormal Protein the fusion protein is composed of the HLH oligomerization domain of ETV6 and the SH2, SH3, and protein tyrosine kinase domains of ABL2
  

Bibliography

The tyrosine kinase abl-related gene ARG is fused to ETV6 in an AML-M4Eo patient with a t(1;12)(q25;p13): molecular cloning of both reciprocal transcripts.
Cazzaniga G, Tosi S, Aloisi A, Giudici G, Daniotti M, Pioltelli P, Kearney L, Biondi A
Blood. 1999 ; 94 (12) : 4370-4373.
PMID 10590083
 
A novel human gene closely related to the abl proto-oncogene.
Kruh GD, King CR, Kraus MH, Popescu NC, Amsbaugh SC, McBride WO, Aaronson SA
Science (New York, N.Y.). 1986 ; 234 (4783) : 1545-1548.
PMID 3787260
 
The complete coding sequence of arg defines the Abelson subfamily of cytoplasmic tyrosine kinases.
Kruh GD, Perego R, Miki T, Aaronson SA
Proceedings of the National Academy of Sciences of the United States of America. 1990 ; 87 (15) : 5802-5806.
PMID 2198571
 
Mapping of Abll within a conserved linkage group on distal mouse chromosome 1 syntenic with human chromosome 1 using an interspecific cross.
Seldin MF, Kruh GD
Genomics. 1989 ; 4 (2) : 221-223.
PMID 2567701
 

Citation

This paper should be referenced as such :
Huret, JL
ABL2 (abelson homolog 2)
Atlas Genet Cytogenet Oncol Haematol. 2000;4(1):9-9.
Free journal version : [ pdf ]   [ DOI ]


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 4 ]
  t(1;1)(q24;q25) RCSD1::ABL2::inv(1)(q24q25) RCSD1::ABL2
t(1;12)(q25;p13) ETV6::ABL2
t(4;11)(q35;q23) KMT2A::SORBS2
t(1;7)(q25;q34) ZC3HAV1::ABL2


External links

Nomenclature
HGNC (Hugo)ABL2   77
Cards
AtlasABL2ID226
Entrez_Gene (NCBI)ABL2    ABL proto-oncogene 2, non-receptor tyrosine kinase
AliasesABLL; ARG
GeneCards (Weizmann)ABL2
Ensembl hg19 (Hinxton)ENSG00000143322 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000143322 [Gene_View]  ENSG00000143322 [Sequence]  chr1:179099331-179229677 [Contig_View]  ABL2 [Vega]
ICGC DataPortalENSG00000143322
TCGA cBioPortalABL2
AceView (NCBI)ABL2
Genatlas (Paris)ABL2
SOURCE (Princeton)ABL2
Genetics Home Reference (NIH)ABL2
Genomic and cartography
GoldenPath hg38 (UCSC)ABL2  -     chr1:179099331-179229677 -  1q25.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ABL2  -     1q25.2   [Description]    (hg19-Feb_2009)
GoldenPathABL2 - 1q25.2 [CytoView hg19]  ABL2 - 1q25.2 [CytoView hg38]
ImmunoBaseENSG00000143322
Genome Data Viewer NCBIABL2 [Mapview hg19]  
OMIM164690   
Gene and transcription
Genbank (Entrez)AK025877 AK056280 AK225255 AK309549 AK311045
RefSeq transcript (Entrez)NM_001136000 NM_001136001 NM_001168236 NM_001168237 NM_001168238 NM_001168239 NM_005158 NM_007314
Consensus coding sequences : CCDS (NCBI)ABL2
Gene ExpressionABL2 [ NCBI-GEO ]   ABL2 [ EBI - ARRAY_EXPRESS ]   ABL2 [ SEEK ]   ABL2 [ MEM ]
Gene Expression Viewer (FireBrowse)ABL2 [ Firebrowse - Broad ]
GenevisibleExpression of ABL2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)27
GTEX Portal (Tissue expression)ABL2
Human Protein AtlasENSG00000143322-ABL2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)ABL2
Human Protein Atlas [tissue]ENSG00000143322-ABL2 [tissue]
HPRD01259
Protein Interaction databases
BioGRIDABL2
STRING (EMBL)ABL2
ZODIACABL2
Ontologies - Pathways
Litterature
PubMed107 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXABL2
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 21:11:41 CEST 2021

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jlhuret@AtlasGeneticsOncology.org.