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    ABL2 ABL proto-oncogene 2, non-receptor tyrosine kinase [ Homo sapiens (human) ]

    Gene ID: 27, updated on 30-Jun-2015
    Official Symbol
    ABL2provided by HGNC
    Official Full Name
    ABL proto-oncogene 2, non-receptor tyrosine kinaseprovided by HGNC
    Primary source
    HGNC:HGNC:77
    See related
    Ensembl:ENSG00000143322; HPRD:01259; MIM:164690; Vega:OTTHUMG00000035199
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ARG; ABLL
    Summary
    This gene encodes a member of the Abelson family of nonreceptor tyrosine protein kinases. The protein is highly similar to the c-abl oncogene 1 protein, including the tyrosine kinase, SH2 and SH3 domains, and it plays a role in cytoskeletal rearrangements through its C-terminal F-actin- and microtubule-binding sequences. This gene is expressed in both normal and tumor cells, and is involved in translocation with the ets variant 6 gene in leukemia. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Nov 2009]
    Orthologs
    See ABL2 in Epigenomics, MapViewer
    Location:
    1q25.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (179099327..179229693, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (179068462..179198819, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 20, member B Neighboring gene ribosomal protein S26 pseudogene 16 Neighboring gene torsin family 3, member A Neighboring gene SET pseudogene 10 Neighboring gene eukaryotic translation initiation factor 4A1 pseudogene 11 Neighboring gene beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) pseudogene Neighboring gene cytochrome c oxidase subunit Vb pseudogene 8 Neighboring gene ribosomal protein L39 pseudogene 11

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.
    NHGRI GWA Catalog
    • L-methionine biosynthesis I, organism-specific biosystem (from BIOCYC)
      L-methionine biosynthesis I, organism-specific biosystemGeneral Background Methionine can be biosynthesized by microorganisms and plants, although mammals cannot biosynthesize methionone de novo. Methionine is required for many important cellular functi...
    • L-methionine biosynthesis I, organism-specific biosystem (from BIOCYC)
      L-methionine biosynthesis I, organism-specific biosystemGeneral Background Methionine can be biosynthesized by microorganisms and plants, although mammals cannot biosynthesize methionone de novo. Methionine is required for many important cellular functi...
    • L-methionine biosynthesis I, organism-specific biosystem (from BIOCYC)
      L-methionine biosynthesis I, organism-specific biosystemGeneral Background Methionine can be biosynthesized by microorganisms and plants, although mammals cannot biosynthesize methionone de novo. Methionine is required for many important cellular functi...
    • L-methionine biosynthesis I, organism-specific biosystem (from BIOCYC)
      L-methionine biosynthesis I, organism-specific biosystemGeneral Background Methionine can be biosynthesized by microorganisms and plants, although mammals cannot biosynthesize methionone de novo. Methionine is required for many important cellular functi...
    • L-methionine biosynthesis I, organism-specific biosystem (from BIOCYC)
      L-methionine biosynthesis I, organism-specific biosystemGeneral Background Methionine can be biosynthesized by microorganisms and plants, although mammals cannot biosynthesize methionone de novo. Methionine is required for many important cellular functi...
    • L-methionine biosynthesis I, organism-specific biosystem (from BIOCYC)
      L-methionine biosynthesis I, organism-specific biosystemGeneral Background Methionine can be biosynthesized by microorganisms and plants, although mammals cannot biosynthesize methionone de novo. Methionine is required for many important cellular functi...
    • L-methionine biosynthesis I, organism-specific biosystem (from BIOCYC)
      L-methionine biosynthesis I, organism-specific biosystemGeneral Background Methionine can be biosynthesized by microorganisms and plants, although mammals cannot biosynthesize methionone de novo. Methionine is required for many important cellular functi...
    • L-methionine biosynthesis I, organism-specific biosystem (from BIOCYC)
      L-methionine biosynthesis I, organism-specific biosystemGeneral Background Methionine can be biosynthesized by microorganisms and plants, although mammals cannot biosynthesize methionone de novo. Methionine is required for many important cellular functi...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ22224, FLJ31718, FLJ41441

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    actin filament binding TAS
    Traceable Author Statement
    more info
    PubMed 
    actin monomer binding TAS
    Traceable Author Statement
    more info
    PubMed 
    magnesium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    manganese ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    non-membrane spanning protein tyrosine kinase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protein tyrosine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    Bergmann glial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    actin filament bundle assembly IEA
    Inferred from Electronic Annotation
    more info
     
    alpha-beta T cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    axon guidance TAS
    Traceable Author Statement
    more info
     
    cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cellular protein localization IEA
    Inferred from Electronic Annotation
    more info
     
    cellular protein modification process TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular response to retinoic acid IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cerebellum morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    dendrite morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    dendritic spine maintenance IEA
    Inferred from Electronic Annotation
    more info
     
    epidermal growth factor receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    exploration behavior IEA
    Inferred from Electronic Annotation
    more info
     
    innate immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    negative regulation of Rho protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cell-cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of endothelial cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    neuromuscular process controlling balance IEA
    Inferred from Electronic Annotation
    more info
     
    neuron remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    peptidyl-tyrosine autophosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    peptidyl-tyrosine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phagocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    platelet-derived growth factor receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    positive regulation of ERK1 and ERK2 cascade IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of I-kappaB kinase/NF-kappaB signaling IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of Wnt signaling pathway, planar cell polarity pathway IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cytosolic calcium ion concentration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of interferon-gamma secretion IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of interleukin-2 secretion IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of neuron projection development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of oxidoreductase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of phospholipase C activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of actin cytoskeleton reorganization TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of autophagy TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of cell adhesion TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of cell motility TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of cell proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of endocytosis TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of extracellular matrix organization IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    substrate-dependent cell migration, cell extension IEA
    Inferred from Electronic Annotation
    more info
     
    visual learning IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    actin cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    dendritic spine IEA
    Inferred from Electronic Annotation
    more info
     
    extrinsic component of cytoplasmic side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    lamellipodium IEA
    Inferred from Electronic Annotation
    more info
     
    phagocytic cup IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    Abelson tyrosine-protein kinase 2
    Names
    abelson-related gene protein
    c-abl oncogene 2, non-receptor tyrosine kinase
    tyrosine-protein kinase ARG
    v-abl Abelson murine leukemia viral oncogene homolog 2
    NP_001129472.1
    NP_001129473.1
    NP_001161708.1
    NP_001161709.1
    NP_001161710.1
    NP_001161711.1
    NP_005149.4
    NP_009298.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_028242.1 RefSeqGene

      Range
      5001..135358
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001136000.2NP_001129472.1  Abelson tyrosine-protein kinase 2 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (d) differs in the 5' UTR and 5' coding region, and lacks an alternate in-frame segment in the 3' coding region, compared to variant b. The resulting isoform (d, also known as 1ALCTS) has a distinct N-terminus and is shorter than isoform b.
      Source sequence(s)
      AL139132, BQ014912, BX538317
      Consensus CDS
      CCDS44282.1
      UniProtKB/Swiss-Prot
      P42684
      Conserved Domains (5) summary
      smart00808
      Location:9451064
      FABD; F-actin binding domain (FABD)
      cd09935
      Location:154247
      SH2_ABL; Src homology 2 (SH2) domain found in Abelson murine lymphosarcoma virus (ABL) proteins
      cd11850
      Location:96149
      SH3_Abl; Src homology 3 domain of the Protein Tyrosine Kinase, Abelson kinase
      pfam07714
      Location:273524
      Pkinase_Tyr; Protein tyrosine kinase
      cd05052
      Location:266528
      PTKc_Abl; Catalytic domain of the Protein Tyrosine Kinase, Abelson kinase
    2. NM_001136001.1NP_001129473.1  Abelson tyrosine-protein kinase 2 isoform e

      See identical proteins and their annotated locations for NP_001129473.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (e) lacks an alternate in-frame exon in the 5' coding region, and differs in the 3' coding region and 3' UTR, compared to variant b. The resulting isoform (e) has a distinct C-terminus and is shorter than isoform b.
      Source sequence(s)
      AK311045, AL512326, BC065912
      Consensus CDS
      CCDS44283.1
      UniProtKB/Swiss-Prot
      P42684
      Related
      ENSP00000375897, OTTHUMP00000240781, ENST00000392043, OTTHUMT00000360390
      Conserved Domains (4) summary
      cd09935
      Location:148241
      SH2_ABL; Src homology 2 (SH2) domain found in Abelson murine lymphosarcoma virus (ABL) proteins
      cd11850
      Location:90143
      SH3_Abl; Src homology 3 domain of the Protein Tyrosine Kinase, Abelson kinase
      pfam07714
      Location:267518
      Pkinase_Tyr; Protein tyrosine kinase
      cd05052
      Location:260522
      PTKc_Abl; Catalytic domain of the Protein Tyrosine Kinase, Abelson kinase
    3. NM_001168236.1NP_001161708.1  Abelson tyrosine-protein kinase 2 isoform f

      See identical proteins and their annotated locations for NP_001161708.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (f) lacks an alternate in-frame exon in the 5' coding region, compared to variant b, resulting in an isoform (f, also known as 1BSCTL) that is shorter than isoform b.
      Source sequence(s)
      AL139132, AL512326, BQ014912, FJ542285
      Consensus CDS
      CCDS53436.1
      UniProtKB/Swiss-Prot
      P42684
      Conserved Domains (5) summary
      smart00808
      Location:10421161
      FABD; F-actin binding domain (FABD)
      cd09935
      Location:148241
      SH2_ABL; Src homology 2 (SH2) domain found in Abelson murine lymphosarcoma virus (ABL) proteins
      cd11850
      Location:90143
      SH3_Abl; Src homology 3 domain of the Protein Tyrosine Kinase, Abelson kinase
      pfam07714
      Location:267518
      Pkinase_Tyr; Protein tyrosine kinase
      cd05052
      Location:260522
      PTKc_Abl; Catalytic domain of the Protein Tyrosine Kinase, Abelson kinase
    4. NM_001168237.1NP_001161709.1  Abelson tyrosine-protein kinase 2 isoform g

      See identical proteins and their annotated locations for NP_001161709.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (g) lacks an alternate in-frame segment in the 3' coding region, compared to variant b, resulting in an isoform (g, also known as 1BLCTS) that is shorter than isoform b.
      Source sequence(s)
      AL139132, AL512326, BQ014912, FJ542284
      Consensus CDS
      CCDS53438.1
      UniProtKB/Swiss-Prot
      P42684
      Conserved Domains (5) summary
      smart00808
      Location:9601079
      FABD; F-actin binding domain (FABD)
      cd09935
      Location:169262
      SH2_ABL; Src homology 2 (SH2) domain found in Abelson murine lymphosarcoma virus (ABL) proteins
      cd11850
      Location:111164
      SH3_Abl; Src homology 3 domain of the Protein Tyrosine Kinase, Abelson kinase
      pfam07714
      Location:288539
      Pkinase_Tyr; Protein tyrosine kinase
      cd05052
      Location:281543
      PTKc_Abl; Catalytic domain of the Protein Tyrosine Kinase, Abelson kinase
    5. NM_001168238.1NP_001161710.1  Abelson tyrosine-protein kinase 2 isoform h

      See identical proteins and their annotated locations for NP_001161710.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (h) lacks an alternate in-frame exon in the 5' coding region and an alternate in-frame segment in the 3' coding region, compared to variant b, resulting in an isoform (h, also known as 1BSCTS) that is shorter than isoform b.
      Source sequence(s)
      AL139132, AL512326, BQ014912, FJ542286
      Consensus CDS
      CCDS53437.1
      UniProtKB/Swiss-Prot
      P42684
      Conserved Domains (5) summary
      smart00808
      Location:9391058
      FABD; F-actin binding domain (FABD)
      cd09935
      Location:148241
      SH2_ABL; Src homology 2 (SH2) domain found in Abelson murine lymphosarcoma virus (ABL) proteins
      cd11850
      Location:90143
      SH3_Abl; Src homology 3 domain of the Protein Tyrosine Kinase, Abelson kinase
      pfam07714
      Location:267518
      Pkinase_Tyr; Protein tyrosine kinase
      cd05052
      Location:260522
      PTKc_Abl; Catalytic domain of the Protein Tyrosine Kinase, Abelson kinase
    6. NM_001168239.1NP_001161711.1  Abelson tyrosine-protein kinase 2 isoform i

      Status: REVIEWED

      Description
      Transcript Variant: This variant (i) differs in the 5' UTR and 5' coding region, and lacks an alternate in-frame segment in the 3' coding region, compared to variant b. The encoded isoform (i, also known as 1ASCTS) has a distinct N-terminus and is shorter than isoform b.
      Source sequence(s)
      AL139132, BQ014912, BX538317, FJ542283
      Consensus CDS
      CCDS53435.1
      UniProtKB/Swiss-Prot
      P42684
      Conserved Domains (5) summary
      smart00808
      Location:9241043
      FABD; F-actin binding domain (FABD)
      cd09935
      Location:133226
      SH2_ABL; Src homology 2 (SH2) domain found in Abelson murine lymphosarcoma virus (ABL) proteins
      cd11850
      Location:75128
      SH3_Abl; Src homology 3 domain of the Protein Tyrosine Kinase, Abelson kinase
      pfam07714
      Location:252503
      Pkinase_Tyr; Protein tyrosine kinase
      cd05052
      Location:245507
      PTKc_Abl; Catalytic domain of the Protein Tyrosine Kinase, Abelson kinase
    7. NM_005158.4NP_005149.4  Abelson tyrosine-protein kinase 2 isoform c

      See identical proteins and their annotated locations for NP_005149.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (c) differs in the 5' UTR and 5' coding region, compared to variant b, resulting in an isoform (c, also known as 1ALCTL) with a distinct and shorter N-terminus, compared to isoform b.
      Source sequence(s)
      AL139132, AL359179, BC065912, BQ014912, BX538317
      Consensus CDS
      CCDS41441.2
      UniProtKB/Swiss-Prot
      P42684
      Conserved Domains (5) summary
      smart00808
      Location:10481167
      FABD; F-actin binding domain (FABD)
      cd09935
      Location:154247
      SH2_ABL; Src homology 2 (SH2) domain found in Abelson murine lymphosarcoma virus (ABL) proteins
      cd11850
      Location:96149
      SH3_Abl; Src homology 3 domain of the Protein Tyrosine Kinase, Abelson kinase
      pfam07714
      Location:273524
      Pkinase_Tyr; Protein tyrosine kinase
      cd05052
      Location:266528
      PTKc_Abl; Catalytic domain of the Protein Tyrosine Kinase, Abelson kinase
    8. NM_007314.3NP_009298.1  Abelson tyrosine-protein kinase 2 isoform b

      See identical proteins and their annotated locations for NP_009298.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (b) represents the longest transcript and encodes the longest isoform (b, also known as 1BLCTL).
      Source sequence(s)
      AL139132, AL512326, BQ014912, M35296
      Consensus CDS
      CCDS30947.1
      UniProtKB/Swiss-Prot
      P42684
      Related
      ENSP00000427562, OTTHUMP00000033139, ENST00000502732, OTTHUMT00000085174
      Conserved Domains (5) summary
      smart00808
      Location:10631182
      FABD; F-actin binding domain (FABD)
      cd09935
      Location:169262
      SH2_ABL; Src homology 2 (SH2) domain found in Abelson murine lymphosarcoma virus (ABL) proteins
      cd11850
      Location:111164
      SH3_Abl; Src homology 3 domain of the Protein Tyrosine Kinase, Abelson kinase
      pfam07714
      Location:288539
      Pkinase_Tyr; Protein tyrosine kinase
      cd05052
      Location:281543
      PTKc_Abl; Catalytic domain of the Protein Tyrosine Kinase, Abelson kinase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

      Range
      179099327..179229693
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005245088.1XP_005245145.1  

      See identical proteins and their annotated locations for XP_005245145.1

      UniProtKB/Swiss-Prot
      P42684
      Conserved Domains (5) summary
      smart00808
      Location:10271146
      FABD; F-actin binding domain (FABD)
      cd09935
      Location:133226
      SH2_ABL; Src homology 2 (SH2) domain found in Abelson murine lymphosarcoma virus (ABL) proteins
      cd11850
      Location:75128
      SH3_Abl; Src homology 3 domain of the Protein Tyrosine Kinase, Abelson kinase
      pfam07714
      Location:252503
      Pkinase_Tyr; Protein tyrosine kinase
      cd05052
      Location:245507
      PTKc_Abl; Catalytic domain of the Protein Tyrosine Kinase, Abelson kinase

    RNA

    1. XR_921765.1 RNA Sequence

    2. XR_921764.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      180492111..180622356
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)