ABL2 (Abelson homolog 2)

Identity

Other names	ARG (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
HGNC	ABL2   77
Entrez_Gene	ABL2  27  v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)
	Cards
Atlas	ABL2ID226
GeneCards	ABL2
Ensembl	ABL2 [Search_View]   ENSG00000143322 [Gene_View]
Genatlas	ABL2
GeneLynx	ABL2
eGenome	ABL2
euGene	27
	Genomic and cartography
GoldenPath	ABL2  -  1q25   chr1:177335085-177378834 -  1q25.2   [Description]    (hg18-Mar_2006)
Ensembl	ABL2 - 1q25.2 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	ABL2
	Gene and transcription
Genbank	AK025877 [ ENTREZ ]
Genbank	AK056280 [ ENTREZ ]
Genbank	AK123435 [ ENTREZ ]
Genbank	AK225255 [ ENTREZ ]
Genbank	AK309549 [ ENTREZ ]
RefSeq	NM_001100108 [ SRS ]    NM_001100108 [ ENTREZ ]
RefSeq	NM_005158 [ SRS ]    NM_005158 [ ENTREZ ]
RefSeq	NM_007314 [ SRS ]    NM_007314 [ ENTREZ ]
RefSeq	AC_000044 [ SRS ]    AC_000044 [ ENTREZ ]
RefSeq	AC_000133 [ SRS ]    AC_000133 [ ENTREZ ]
RefSeq	NC_000001 [ SRS ]    NC_000001 [ ENTREZ ]
RefSeq	NT_004487 [ SRS ]    NT_004487 [ ENTREZ ]
RefSeq	NW_001838533 [ SRS ]    NW_001838533 [ ENTREZ ]
RefSeq	NW_926128 [ SRS ]    NW_926128 [ ENTREZ ]
AceView	ABL2 AceView - NCBI
Unigene	Hs.159472 [ SRS ]    Hs.159472 [ NCBI ]     HS159472 [ spliceNest ]
Fast-db	17608 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	P42684 [ SRS]    P42684 [ EXPASY ]     P42684 [ INTERPRO ]     P42684 [ UNIPROT ]
Prosite	PS00107 PROTEIN_KINASE_ATP [ SRS ]    PS00107 PROTEIN_KINASE_ATP [ Expasy ]
Prosite	PS50011 PROTEIN_KINASE_DOM [ SRS ]    PS50011 PROTEIN_KINASE_DOM [ Expasy ]
Prosite	PS00109 PROTEIN_KINASE_TYR [ SRS ]    PS00109 PROTEIN_KINASE_TYR [ Expasy ]
Prosite	PS50001 SH2 [ SRS ]    PS50001 SH2 [ Expasy ]
Prosite	PS50002 SH3 [ SRS ]    PS50002 SH3 [ Expasy ]
Interpro	IPR015015 F_actin_bd [ SRS ]    IPR015015 F_actin_bd [ EBI ]
Interpro	IPR001720 PI3kinase_P85 [ SRS ]    IPR001720 PI3kinase_P85 [ EBI ]
Interpro	IPR000719 Prot_kinase_core [ SRS ]    IPR000719 Prot_kinase_core [ EBI ]
Interpro	IPR017441 Protein_kinase_ATP_bd_CS [ SRS ]    IPR017441 Protein_kinase_ATP_bd_CS [ EBI ]
Interpro	IPR000980 SH2 [ SRS ]    IPR000980 SH2 [ EBI ]
Interpro	IPR001452 SH3 [ SRS ]    IPR001452 SH3 [ EBI ]
Interpro	IPR001245 Tyr_pkinase [ SRS ]    IPR001245 Tyr_pkinase [ EBI ]
Interpro	IPR008266 Tyr_pkinase_AS [ SRS ]    IPR008266 Tyr_pkinase_AS [ EBI ]
CluSTr	P42684
Pfam	PF08919 F_actin_bind [ SRS ]    PF08919 F_actin_bind [ Sanger ]    pfam08919 [ NCBI-CDD ]
Pfam	PF07714 Pkinase_Tyr [ SRS ]    PF07714 Pkinase_Tyr [ Sanger ]    pfam07714 [ NCBI-CDD ]
Pfam	PF00017 SH2 [ SRS ]    PF00017 SH2 [ Sanger ]    pfam00017 [ NCBI-CDD ]
Pfam	PF00018 SH3_1 [ SRS ]    PF00018 SH3_1 [ Sanger ]    pfam00018 [ NCBI-CDD ]
Smart	SM00808 FABD [EMBL]
Smart	SM00252 SH2 [EMBL]
Smart	SM00326 SH3 [EMBL]
Smart	SM00219 TyrKc [EMBL]
Prodom	PD000001 Prot_kinase[INRA-Toulouse]
Prodom	P42684 ABL2_HUMAN [ Domain structure ]   P42684 ABL2_HUMAN  [ sequences sharing at least 1 domain ]
Prodom	PD000001[INRA-Toulouse]
Prodom	P42684 ABL2_HUMAN [ Domain structure ]   P42684 ABL2_HUMAN  [ sequences sharing at least 1 domain ]
Prodom	PD000001[INRA-Toulouse]
Prodom	P42684 ABL2_HUMAN [ Domain structure ]   P42684 ABL2_HUMAN  [ sequences sharing at least 1 domain ]
Blocks	P42684
PDB	2ECD [ SRS ]    2ECD [ PdbSum ],   2ECD [ IMB ]   2ECD [ RSDB ]
HPRD	01259
	Protein Interaction databases
DIP	P42684
IntAct	P42684
	Polymorphism : SNP, mutations, diseases
OMIM	164690    [ map ]
GENECLINICS	164690
SNP	ABL2 [dbSNP-NCBI]
SNP	NM_001100108 [SNP-NCI]
SNP	NM_005158 [SNP-NCI]
SNP	NM_007314 [SNP-NCI]
SNP	ABL2 [GeneSNPs - Utah]  ABL2] [HGBASE - SRS]
HAPMAP	ABL2 [HAPMAP]
COSMIC	ABL2 [Somatic mutation (COSMIC-CGP-Sanger)]
TICdb	ABL2 [Translocation breakpoints In Cancer]
HGMD	ABL2
	General knowledge
Family Browser	ABL2 [UCSC Family Browser]
SOURCE	NM_001100108
SOURCE	NM_005158
SOURCE	NM_007314
SMD	Hs.159472
SAGE	Hs.159472
Enzyme	2.7.10.2 [ 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 ]
GO	nucleotide binding [Amigo]  nucleotide binding
GO	magnesium ion binding [Amigo]  magnesium ion binding
GO	protein tyrosine kinase activity [Amigo]  protein tyrosine kinase activity
GO	non-membrane spanning protein tyrosine kinase activity [Amigo]  non-membrane spanning protein tyrosine kinase activity
GO	protein binding [Amigo]  protein binding
GO	protein binding [Amigo]  protein binding
GO	ATP binding [Amigo]  ATP binding
GO	cytoplasm [Amigo]  cytoplasm
GO	cytoskeleton [Amigo]  cytoskeleton
GO	phosphoinositide 3-kinase complex [Amigo]  phosphoinositide 3-kinase complex
GO	protein modification process [Amigo]  protein modification process
GO	protein amino acid phosphorylation [Amigo]  protein amino acid phosphorylation
GO	cell adhesion [Amigo]  cell adhesion
GO	signal transduction [Amigo]  signal transduction
GO	transferase activity [Amigo]  transferase activity
GO	peptidyl-tyrosine phosphorylation [Amigo]  peptidyl-tyrosine phosphorylation
GO	manganese ion binding [Amigo]  manganese ion binding
GO	phosphoinositide 3-kinase regulator activity [Amigo]  phosphoinositide 3-kinase regulator activity
GO	positive regulation of oxidoreductase activity [Amigo]  positive regulation of oxidoreductase activity
PubGene	ABL2
TreeFam	ABL2
CTD	27 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	Cancer Cytogenetics (Bari)
Probe	ABL2 Related clones (RZPD - Berlin)
	PubMed
PubMed	35 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 articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written	02-2000	Jean-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