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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

Other namesARG (Abelson related gene)
ABLL
HGNC (Hugo) ABL2
LocusID (NCBI) 27
Atlas_Id 226
Location 1q25.2
Location_base_pair Starts at 179068462 and ends at 179112224 bp from pter ( according to hg19-Feb_2009)  [Mapping ABL2.png]
 
  ABL2 (1q25) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
Fusion genes
(updated 2016)
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)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 t(1;12)(q25;p13) --> 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

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
 
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
 
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
 
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, Pioltelli P, Kearney L, Biondi A
Blood. 1999 ; 94 (numero Suppl 1).
 
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
 

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 ]
On line version : http://AtlasGeneticsOncology.org/Genes/ABL2ID226.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(1;12)(q25;p13) ETV6/ABL2
t(4;11)(q35;q23) KMT2A/SORBS2

External links

Nomenclature
HGNC (Hugo)ABL2   77
Cards
AtlasABL2ID226
Entrez_Gene (NCBI)ABL2  27  ABL proto-oncogene 2, non-receptor tyrosine kinase
AliasesABLL; ARG
GeneCards (Weizmann)ABL2
Ensembl hg19 (Hinxton)ENSG00000143322 [Gene_View]  chr1:179068462-179112224 [Contig_View]  ABL2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000143322 [Gene_View]  chr1:179068462-179112224 [Contig_View]  ABL2 [Vega]
ICGC DataPortalENSG00000143322
TCGA cBioPortalABL2
AceView (NCBI)ABL2
Genatlas (Paris)ABL2
WikiGenes27
SOURCE (Princeton)ABL2
Genomic and cartography
GoldenPath hg19 (UCSC)ABL2  -     chr1:179068462-179112224 -  1q25.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ABL2  -     1q25.2   [Description]    (hg38-Dec_2013)
EnsemblABL2 - 1q25.2 [CytoView hg19]  ABL2 - 1q25.2 [CytoView hg38]
Mapping of homologs : NCBIABL2 [Mapview hg19]  ABL2 [Mapview hg38]
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
RefSeq genomic (Entrez)NC_000001 NC_018912 NG_028242 NT_004487 NW_004929293
Consensus coding sequences : CCDS (NCBI)ABL2
Cluster EST : UnigeneHs.159472 [ NCBI ]
CGAP (NCI)Hs.159472
Alternative Splicing GalleryENSG00000143322
Gene ExpressionABL2 [ NCBI-GEO ]   ABL2 [ EBI - ARRAY_EXPRESS ]   ABL2 [ SEEK ]   ABL2 [ MEM ]
Gene Expression Viewer (FireBrowse)ABL2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)27
GTEX Portal (Tissue expression)ABL2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP42684 (Uniprot)
NextProtP42684  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP42684
Splice isoforms : SwissVarP42684 (Swissvar)
Catalytic activity : Enzyme2.7.10.2 [ Enzyme-Expasy ]   2.7.10.22.7.10.2 [ IntEnz-EBI ]   2.7.10.2 [ BRENDA ]   2.7.10.2 [ KEGG ]   
PhosPhoSitePlusP42684
Domaine pattern : Prosite (Expaxy)PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_TYR (PS00109)    SH2 (PS50001)    SH3 (PS50002)   
Domains : Interpro (EBI)F-actin_binding    Kinase-like_dom    Prot_kinase_dom    Protein_kinase_ATP_BS    Ser-Thr/Tyr_kinase_cat_dom    SH2    SH3_domain    Tyr_kinase_AS    Tyr_kinase_cat_dom   
Domain families : Pfam (Sanger)F_actin_bind (PF08919)    Pkinase_Tyr (PF07714)    SH2 (PF00017)    SH3_1 (PF00018)   
Domain families : Pfam (NCBI)pfam08919    pfam07714    pfam00017    pfam00018   
Domain families : Smart (EMBL)FABD (SM00808)  SH2 (SM00252)  SH3 (SM00326)  TyrKc (SM00219)  
DMDM Disease mutations27
Blocks (Seattle)ABL2
PDB (SRS)2ECD    2KK1    2XYN    3GVU    3HMI    3ULR    4EIH   
PDB (PDBSum)2ECD    2KK1    2XYN    3GVU    3HMI    3ULR    4EIH   
PDB (IMB)2ECD    2KK1    2XYN    3GVU    3HMI    3ULR    4EIH   
PDB (RSDB)2ECD    2KK1    2XYN    3GVU    3HMI    3ULR    4EIH   
Structural Biology KnowledgeBase2ECD    2KK1    2XYN    3GVU    3HMI    3ULR    4EIH   
SCOP (Structural Classification of Proteins)2ECD    2KK1    2XYN    3GVU    3HMI    3ULR    4EIH   
CATH (Classification of proteins structures)2ECD    2KK1    2XYN    3GVU    3HMI    3ULR    4EIH   
SuperfamilyP42684
Human Protein AtlasENSG00000143322
Peptide AtlasP42684
HPRD01259
IPIIPI00329488   IPI00954441   IPI00719587   IPI00745593   IPI00954457   IPI01025224   IPI00954474   IPI00914546   IPI00954546   
Protein Interaction databases
DIP (DOE-UCLA)P42684
IntAct (EBI)P42684
FunCoupENSG00000143322
BioGRIDABL2
STRING (EMBL)ABL2
ZODIACABL2
Ontologies - Pathways
QuickGOP42684
Ontology : AmiGOmagnesium ion binding  actin monomer binding  protein kinase activity  protein tyrosine kinase activity  protein tyrosine kinase activity  non-membrane spanning protein tyrosine kinase activity  receptor binding  protein binding  ATP binding  cytosol  cellular protein modification process  cell adhesion  signal transduction  transmembrane receptor protein tyrosine kinase signaling pathway  positive regulation of cytosolic calcium ion concentration  regulation of autophagy  positive regulation of phospholipase C activity  positive regulation of neuron projection development  actin cytoskeleton  peptidyl-tyrosine phosphorylation  regulation of endocytosis  manganese ion binding  regulation of cell adhesion  extrinsic component of cytoplasmic side of plasma membrane  peptidyl-tyrosine autophosphorylation  regulation of cell proliferation  innate immune response  actin filament binding  positive regulation of oxidoreductase activity  cellular response to retinoic acid  regulation of cell motility  regulation of actin cytoskeleton reorganization  
Ontology : EGO-EBImagnesium ion binding  actin monomer binding  protein kinase activity  protein tyrosine kinase activity  protein tyrosine kinase activity  non-membrane spanning protein tyrosine kinase activity  receptor binding  protein binding  ATP binding  cytosol  cellular protein modification process  cell adhesion  signal transduction  transmembrane receptor protein tyrosine kinase signaling pathway  positive regulation of cytosolic calcium ion concentration  regulation of autophagy  positive regulation of phospholipase C activity  positive regulation of neuron projection development  actin cytoskeleton  peptidyl-tyrosine phosphorylation  regulation of endocytosis  manganese ion binding  regulation of cell adhesion  extrinsic component of cytoplasmic side of plasma membrane  peptidyl-tyrosine autophosphorylation  regulation of cell proliferation  innate immune response  actin filament binding  positive regulation of oxidoreductase activity  cellular response to retinoic acid  regulation of cell motility  regulation of actin cytoskeleton reorganization  
Pathways : KEGGErbB signaling pathway    Ras signaling pathway    Viral myocarditis   
REACTOMEP42684 [protein]
REACTOME PathwaysR-HSA-428890 Role of Abl in Robo-Slit signaling [pathway]
NDEx Network
Atlas of Cancer Signalling NetworkABL2
Wikipedia pathwaysABL2
Orthology - Evolution
OrthoDB27
GeneTree (enSembl)ENSG00000143322
Phylogenetic Trees/Animal Genes : TreeFamABL2
Homologs : HomoloGeneABL2
Homology/Alignments : Family Browser (UCSC)ABL2
Gene fusions - Rearrangements
Fusion : MitelmanETV6/ABL2 [12p13.2/1q25.2]  [t(1;10;12)(q25;p13;p13)]  [t(1;12)(q25;p13)]  
Fusion : TICdbETV6 [12p13.2]  -  ABL2 [1q25.2]
Fusion Cancer (Beijing)ABL2 [1q25.2]  -  HLA-DRB1 [6p21.32]  [FUSC002529]
Polymorphisms : SNP, variants
NCBI Variation ViewerABL2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ABL2
dbVarABL2
ClinVarABL2
1000_GenomesABL2 
Exome Variant ServerABL2
ExAC (Exome Aggregation Consortium)ABL2 (select the gene name)
Genetic variants : HAPMAP27
Genomic Variants (DGV)ABL2 [DGVbeta]
Mutations
ICGC Data PortalABL2 
TCGA Data PortalABL2 
Broad Tumor PortalABL2
OASIS PortalABL2 [ Somatic mutations - Copy number]
Cancer Gene: CensusABL2 
Somatic Mutations in Cancer : COSMICABL2 
intOGen PortalABL2
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 ABL2
DgiDB (Drug Gene Interaction Database)ABL2
DoCM (Curated mutations)ABL2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ABL2 (select a term)
intoGenABL2
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)1:179068462-179112224  ENSG00000143322
CONAN: Copy Number AnalysisABL2 
Mutations and Diseases : HGMDABL2
OMIM164690   
MedgenABL2
Genetic Testing Registry ABL2
NextProtP42684 [Medical]
TSGene27
GENETestsABL2
Huge Navigator ABL2 [HugePedia]
snp3D : Map Gene to Disease27
BioCentury BCIQABL2
ClinGenABL2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD27
Chemical/Pharm GKB GenePA24414
Clinical trialABL2
Miscellaneous
canSAR (ICR)ABL2 (select the gene name)
Probes
ProbeCancer Cytogenetics (Bari)
Litterature
PubMed88 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineABL2
EVEXABL2
GoPubMedABL2
iHOPABL2
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 : Sat May 28 11:29:53 CEST 2016

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For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.