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ABL2 (Abelson homolog 2)

Identity

Other namesARG (Abelson related gene)
ABLL
HGNC ABL2
Location 1q25
 
  ABL2 (1q25) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. Laboratories willing to validate the probes are welcome : contact rocchi@biologia.uniba.it

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

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
  

External links

Nomenclature
HGNCABL2   77
Entrez_GeneABL2  27  v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)
Cards
AtlasABL2ID226
GeneCardsABL2
EnsemblABL2 [Search_View]   ENSG00000143322 [Gene_View]
GenatlasABL2
GeneLynxABL2
eGenomeABL2
euGene27
Genomic and cartography
GoldenPathABL2  -  1q25   chr1:177335085-177378834 -  1q25.2   [Description]    (hg18-Mar_2006)
EnsemblABL2 - 1q25.2 [CytoView]
NCBIMapview
OMIMDisease map [OMIM]
HomoloGeneABL2
Gene and transcription
GenbankAK025877 [ ENTREZ ]
GenbankAK056280 [ ENTREZ ]
GenbankAK123435 [ ENTREZ ]
GenbankAK225255 [ ENTREZ ]
GenbankAK309549 [ ENTREZ ]
RefSeqNM_001100108 [ SRS ]    NM_001100108 [ ENTREZ ]
RefSeqNM_005158 [ SRS ]    NM_005158 [ ENTREZ ]
RefSeqNM_007314 [ SRS ]    NM_007314 [ ENTREZ ]
RefSeqAC_000044 [ SRS ]    AC_000044 [ ENTREZ ]
RefSeqAC_000133 [ SRS ]    AC_000133 [ ENTREZ ]
RefSeqNC_000001 [ SRS ]    NC_000001 [ ENTREZ ]
RefSeqNT_004487 [ SRS ]    NT_004487 [ ENTREZ ]
RefSeqNW_001838533 [ SRS ]    NW_001838533 [ ENTREZ ]
RefSeqNW_926128 [ SRS ]    NW_926128 [ ENTREZ ]
AceViewABL2 AceView - NCBI
UnigeneHs.159472 [ SRS ]    Hs.159472 [ NCBI ]     HS159472 [ spliceNest ]
Fast-db17608 (alternative variants)
Protein : pattern, domain, 3D structure
SwissProtP42684 [ SRS]    P42684 [ EXPASY ]     P42684 [ INTERPRO ]     P42684 [ UNIPROT ]
PrositePS00107 PROTEIN_KINASE_ATP [ SRS ]    PS00107 PROTEIN_KINASE_ATP [ Expasy ]
PrositePS50011 PROTEIN_KINASE_DOM [ SRS ]    PS50011 PROTEIN_KINASE_DOM [ Expasy ]
PrositePS00109 PROTEIN_KINASE_TYR [ SRS ]    PS00109 PROTEIN_KINASE_TYR [ Expasy ]
PrositePS50001 SH2 [ SRS ]    PS50001 SH2 [ Expasy ]
PrositePS50002 SH3 [ SRS ]    PS50002 SH3 [ Expasy ]
InterproIPR015015 F_actin_bd [ SRS ]    IPR015015 F_actin_bd [ EBI ]
InterproIPR001720 PI3kinase_P85 [ SRS ]    IPR001720 PI3kinase_P85 [ EBI ]
InterproIPR000719 Prot_kinase_core [ SRS ]    IPR000719 Prot_kinase_core [ EBI ]
InterproIPR017441 Protein_kinase_ATP_bd_CS [ SRS ]    IPR017441 Protein_kinase_ATP_bd_CS [ EBI ]
InterproIPR000980 SH2 [ SRS ]    IPR000980 SH2 [ EBI ]
InterproIPR001452 SH3 [ SRS ]    IPR001452 SH3 [ EBI ]
InterproIPR001245 Tyr_pkinase [ SRS ]    IPR001245 Tyr_pkinase [ EBI ]
InterproIPR008266 Tyr_pkinase_AS [ SRS ]    IPR008266 Tyr_pkinase_AS [ EBI ]
CluSTrP42684
PfamPF08919 F_actin_bind [ SRS ]    PF08919 F_actin_bind [ Sanger ]    pfam08919 [ NCBI-CDD ]
PfamPF07714 Pkinase_Tyr [ SRS ]    PF07714 Pkinase_Tyr [ Sanger ]    pfam07714 [ NCBI-CDD ]
PfamPF00017 SH2 [ SRS ]    PF00017 SH2 [ Sanger ]    pfam00017 [ NCBI-CDD ]
PfamPF00018 SH3_1 [ SRS ]    PF00018 SH3_1 [ Sanger ]    pfam00018 [ NCBI-CDD ]
SmartSM00808 FABD [EMBL]
SmartSM00252 SH2 [EMBL]
SmartSM00326 SH3 [EMBL]
SmartSM00219 TyrKc [EMBL]
ProdomPD000001 Prot_kinase[INRA-Toulouse]
ProdomP42684 ABL2_HUMAN [ Domain structure ]   P42684 ABL2_HUMAN  [ sequences sharing at least 1 domain ]
ProdomPD000001[INRA-Toulouse]
ProdomP42684 ABL2_HUMAN [ Domain structure ]   P42684 ABL2_HUMAN  [ sequences sharing at least 1 domain ]
ProdomPD000001[INRA-Toulouse]
ProdomP42684 ABL2_HUMAN [ Domain structure ]   P42684 ABL2_HUMAN  [ sequences sharing at least 1 domain ]
BlocksP42684
PDB2ECD [ SRS ]    2ECD [ PdbSum ],   2ECD [ IMB ]   2ECD [ RSDB ]
HPRD01259
Protein Interaction databases
DIPP42684
IntActP42684
Polymorphism : SNP, mutations, diseases
OMIM164690    [ map ]   
GENECLINICS164690
SNPABL2 [dbSNP-NCBI]  
SNPNM_001100108 [SNP-NCI]  
SNPNM_005158 [SNP-NCI]  
SNPNM_007314 [SNP-NCI]  
SNPABL2 [GeneSNPs - Utah]  ABL2] [HGBASE - SRS]
HAPMAPABL2 [HAPMAP]  
COSMICABL2 [Somatic mutation (COSMIC-CGP-Sanger)]  
TICdbABL2 [Translocation breakpoints In Cancer]  
HGMDABL2
General knowledge
Family BrowserABL2 [UCSC Family Browser]
SOURCENM_001100108
SOURCENM_005158
SOURCENM_007314
SMDHs.159472
SAGEHs.159472
Enzyme2.7.10.2 [ Enzyme-Expasy ]   2.7.10.2 [ Enzyme-SRS ]   2.7.10.2 [ IntEnz-EBI ]   2.7.10.2 [ BRENDA ]   2.7.10.2 [ KEGG ]   2.7.10.2 [ WIT ]
GOnucleotide binding [Amigo]  nucleotide binding
GOmagnesium ion binding [Amigo]  magnesium ion binding
GOprotein tyrosine kinase activity [Amigo]  protein tyrosine kinase activity
GOnon-membrane spanning protein tyrosine kinase activity [Amigo]  non-membrane spanning protein tyrosine kinase activity
GOprotein binding [Amigo]  protein binding
GOprotein binding [Amigo]  protein binding
GOATP binding [Amigo]  ATP binding
GOcytoplasm [Amigo]  cytoplasm
GOcytoskeleton [Amigo]  cytoskeleton
GOphosphoinositide 3-kinase complex [Amigo]  phosphoinositide 3-kinase complex
GOprotein modification process [Amigo]  protein modification process
GOprotein amino acid phosphorylation [Amigo]  protein amino acid phosphorylation
GOcell adhesion [Amigo]  cell adhesion
GOsignal transduction [Amigo]  signal transduction
GOtransferase activity [Amigo]  transferase activity
GOpeptidyl-tyrosine phosphorylation [Amigo]  peptidyl-tyrosine phosphorylation
GOmanganese ion binding [Amigo]  manganese ion binding
GOphosphoinositide 3-kinase regulator activity [Amigo]  phosphoinositide 3-kinase regulator activity
GOpositive regulation of oxidoreductase activity [Amigo]  positive regulation of oxidoreductase activity
PubGeneABL2
TreeFamABL2
CTD27 [Comparative ToxicoGenomics Database]
Other databases
Probes
ProbeCancer Cytogenetics (Bari)
ProbeABL2 Related clones (RZPD - Berlin)
PubMed
PubMed35 Pubmed reference(s) in LocusLink

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
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written02-2000Jean-Loup Huret

Citation

This paper should be referenced as such :
Huret JL . ABL2 (Abelson homolog 2). Atlas Genet Cytogenet Oncol Haematol. February 2000 .
URL : http://AtlasGeneticsOncology.org/Genes/ABL2ID226.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Aug 11 21:11:42 2008


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