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ABL2 (Abelson homolog 2)

Identity

Other namesARG (Abelson related gene)
ABLL
HGNC (Hugo) ABL2
LocusID (NCBI) 27
Location 1q25
Location_base_pair Starts at 179068462 and ends at 179112224 bp from pter ( according to hg19-Feb_2009)  [Mapping]
 
  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
HGNC (Hugo)ABL2   77
Entrez_Gene (NCBI)ABL2  27  v-abl Abelson murine leukemia viral oncogene homolog 2
Cards
AtlasABL2ID226
GeneCards (Weizmann)ABL2
Ensembl (Hinxton)ENSG00000143322 [Gene_View]  chr1:179068462-179112224 [Contig_View]  ABL2 [Vega]
AceView (NCBI)ABL2
Genatlas (Paris)ABL2
euGene (Indiana)27
SOURCE (Stanford)NM_001136000 NM_001136001 NM_001168236 NM_001168237 NM_001168238 NM_001168239 NM_005158 NM_007314
Genomic and cartography
GoldenPath (UCSC)ABL2  -  1q25   chr1:179068462-179112224 -  1q25.2   [Description]    (hg19-Feb_2009)
EnsemblABL2 - 1q25.2 [CytoView]
Mapping of homologs : NCBIABL2 [Mapview]
OMIM164690   
Gene and transcription
Genbank (Entrez)AK025877 AK056280 AK225255 AK309549 AK311045
RefSeq transcript (SRS)NM_001136000 NM_001136001 NM_001168236 NM_001168237 NM_001168238 NM_001168239 NM_005158 NM_007314
RefSeq transcript (Entrez)NM_001136000 NM_001136001 NM_001168236 NM_001168237 NM_001168238 NM_001168239 NM_005158 NM_007314
RefSeq genomic (SRS)AC_000133 NC_000001 NG_028242 NT_004487 NW_001838533
RefSeq genomic (Entrez)AC_000133 NC_000001 NG_028242 NT_004487 NW_001838533
Consensus coding sequences : CCDS (NCBI)ABL2
Cluster EST : UnigeneHs.159472 [ SRS ] Hs.159472 [ NCBI ]
Alternative Splicing : Fast-db (Paris)17608
Alternative Splicing GalleryENSG00000143322
Gene ExpressionABL2 [ NCBI-GEO ]   ABL2 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP42684 (SRS) P42684 (Uniprot)
With graphics : InterProP42684
Splice isoforms : SwissVarP42684(Swissvar)
Domaine pattern : Prosite (SRS)PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_TYR (PS00109)    SH2 (PS50001)    SH3 (PS50002)   
Domaine pattern : Prosite (Expaxy)PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_TYR (PS00109)    SH2 (PS50001)    SH3 (PS50002)   
Domains : Interpro (SRS)F-actin_binding    Kinase-like_dom    Prot_kinase_cat_dom    Protein_kinase_ATP_BS    Ser-Thr/Tyr_kinase_cat_dom    SH2    SH3_domain    Tyr_kinase_AS    Tyr_kinase_cat_dom   
Domains : Interpro (EBI)F-actin_binding    Kinase-like_dom    Prot_kinase_cat_dom    Protein_kinase_ATP_BS    Ser-Thr/Tyr_kinase_cat_dom    SH2    SH3_domain    Tyr_kinase_AS    Tyr_kinase_cat_dom   
Related proteins : CluSTrP42684
Domain families : Pfam (SRS)F_actin_bind (PF08919)    Pkinase_Tyr (PF07714)    SH2 (PF00017)    SH3_1 (PF00018)   
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)  
Blocks (Seattle)P42684
PDB (SRS)2ECD    2KK1    2XYN    3GVU    3HMI    3ULR   
PDB (PDBSum)2ECD    2KK1    2XYN    3GVU    3HMI    3ULR   
PDB (IMB)2ECD    2KK1    2XYN    3GVU    3HMI    3ULR   
PDB (RSDB)2ECD    2KK1    2XYN    3GVU    3HMI    3ULR   
Human Protein AtlasENSG00000143322
HPRD01259
IPIIPI00329488   IPI00954441   IPI00719587   IPI00745593   IPI00954457   IPI01025224   IPI00954474   IPI00914546   IPI00954546   
Protein Interaction databases
DIP (DOE-UCLA)P42684
IntAct (EBI)P42684
FunCoupENSG00000143322
REACTOMEABL2
BioGRIDABL2
InParanoidP42684
Interologous Interaction database P42684
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ABL2
SNP (GeneSNP Utah)ABL2
SNP : HGBaseABL2
Genetic variants : HAPMAPABL2
Cancer Gene: CensusABL2 
Somatic Mutations in Cancer : COSMICABL2 
CONAN: Copy Number AnalysisABL2 
Translocation Breakpoints in Cancer : TICdbABL2 
Mutations and Diseases : HGMDABL2
OMIM164690   
GENETests164690   
Disease Genetic AssociationABL2
Huge Navigator ABL2 [HugePedia]  ABL2 [HugeCancerGEM]
Genomic VariantsABL2
snp3D : Map Gene to Disease27
General knowledge
Homologs : HomoloGeneABL2
Homology/Alignments : Family Browser (UCSC)ABL2
Phylogenetic Trees/Animal Genes : TreeFamABL2
Catalytic activity : 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 ]   
Chemical/Protein Interactions : CTD27
Chemical/Pharm GKB GenePA24414
Clinical trialABL2
Cancer Resource (Charite)ENSG00000143322
Ontology : AmiGOnucleotide binding  magnesium ion binding  actin monomer binding  protein kinase activity  protein tyrosine kinase activity  non-membrane spanning protein tyrosine kinase activity  protein binding  ATP binding  cytoplasm  cytosol  protein modification process  protein phosphorylation  signal transduction  axon guidance  regulation of autophagy  positive regulation of neuron projection development  actin cytoskeleton  peptidyl-tyrosine phosphorylation  regulation of endocytosis  manganese ion binding  regulation of cell adhesion  actin filament binding  positive regulation of oxidoreductase activity  cellular response to retinoic acid  regulation of cell motility  regulation of actin cytoskeleton reorganization  
Ontology : EGO-EBInucleotide binding  magnesium ion binding  actin monomer binding  protein kinase activity  protein tyrosine kinase activity  non-membrane spanning protein tyrosine kinase activity  protein binding  ATP binding  cytoplasm  cytosol  protein modification process  protein phosphorylation  signal transduction  axon guidance  regulation of autophagy  positive regulation of neuron projection development  actin cytoskeleton  peptidyl-tyrosine phosphorylation  regulation of endocytosis  manganese ion binding  regulation of cell adhesion  actin filament binding  positive regulation of oxidoreductase activity  cellular response to retinoic acid  regulation of cell motility  regulation of actin cytoskeleton reorganization  
Other databases
Probes
ProbeCancer Cytogenetics (Bari)
Probes : ImagenesABL2 Related clones (RZPD - Berlin)
Litterature
PubMed56 Pubmed reference(s) in Entrez
PubGeneABL2
iHOPABL2

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

This paper is referenced by INIST as such :
http://documents.irevues.inist.fr/bitstream/2042/37579/1/02-2000-ABL2ID226.pdf   [ Bibliographic record ]

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Apr 28 14:59:13 CEST 2012

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