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

    Gene ID: 27, updated on 23-May-2018
    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 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]
    Expression
    Ubiquitous expression in gall bladder (RPKM 5.8), appendix (RPKM 2.3) and 25 other tissues See more
    Orthologs
    See ABL2 in Genome Data Viewer
    Location:
    1q25.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 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 FAM20B, glycosaminoglycan xylosylkinase 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 5B pseudogene 8 Neighboring gene ribosomal protein L39 pseudogene 11

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    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
    • Axon guidance, organism-specific biosystem (from REACTOME)
      Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • ErbB signaling pathway, organism-specific biosystem (from KEGG)
      ErbB signaling pathway, organism-specific biosystemThe ErbB family of receptor tyrosine kinases (RTKs) couples binding of extracellular growth factor ligands to intracellular signaling pathways regulating diverse biologic responses, including prolife...
    • ErbB signaling pathway, conserved biosystem (from KEGG)
      ErbB signaling pathway, conserved biosystemThe ErbB family of receptor tyrosine kinases (RTKs) couples binding of extracellular growth factor ligands to intracellular signaling pathways regulating diverse biologic responses, including prolife...
    • Ras signaling pathway, organism-specific biosystem (from KEGG)
      Ras signaling pathway, organism-specific biosystemThe Ras proteins are GTPases that function as molecular switches for signaling pathways regulating cell proliferation, survival, growth, migration, differentiation or cytoskeletal dynamism. Ras prote...
    • Role of Abl in Robo-Slit signaling, organism-specific biosystem (from REACTOME)
      Role of Abl in Robo-Slit signaling, organism-specific biosystemAbl plays a dual role in the Robo pathway. As a key enzymatic component in the signaling pathway, Abl support repellent signaling (by recruiting the necessary actin binding proteins) and also feed ba...
    • Signaling by Robo receptor, organism-specific biosystem (from REACTOME)
      Signaling by Robo receptor, organism-specific biosystemThe Roundabout (Robo) family encodes transmembrane receptors that regulate axonal guidance and cell migration. The major function of the Robo receptors is to mediate repulsion of the navigating growt...
    • Viral myocarditis, organism-specific biosystem (from KEGG)
      Viral myocarditis, organism-specific biosystemMyocarditis is a cardiac disease associated with inflammation and injury of the myocardium. It results from various etiologies, both noninfectious and infectious, but coxsackievirus B3 (CVB3) is stil...
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    non-membrane spanning protein tyrosine kinase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    phosphotyrosine residue binding IPI
    Inferred from Physical Interaction
    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 
    protein tyrosine kinase activity TAS
    Traceable Author Statement
    more info
     
    signaling receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cellular protein modification process TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular response to retinoic acid IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    innate immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    peptidyl-tyrosine autophosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    peptidyl-tyrosine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cytosolic calcium ion concentration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 
    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
    PubMed 
    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
    PubMed 
    regulation of endocytosis TAS
    Traceable Author Statement
    more info
    PubMed 
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    transmembrane receptor protein tyrosine kinase signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    actin cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    extrinsic component of cytoplasmic side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Preferred Names
    tyrosine-protein kinase ABL2; 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
    XP_005245145.1
    XP_016856524.1

    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  tyrosine-protein kinase ABL2 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
      Related
      ENSP00000339209.3, OTTHUMP00000033140, ENST00000344730.7, OTTHUMT00000085175
      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
      cd05052
      Location:266528
      PTKc_Abl; Catalytic domain of the Protein Tyrosine Kinase, Abelson kinase
      pfam07714
      Location:273524
      Pkinase_Tyr; Protein tyrosine kinase
    2. NM_001136001.1NP_001129473.1  tyrosine-protein kinase ABL2 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
      ENSP00000375897.3, OTTHUMP00000240781, ENST00000392043.3, OTTHUMT00000360390
      Conserved Domains (3) 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
      cd05052
      Location:260522
      PTKc_Abl; Catalytic domain of the Protein Tyrosine Kinase, Abelson kinase
    3. NM_001168236.1NP_001161708.1  tyrosine-protein kinase ABL2 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
      Related
      ENSP00000356595.4, OTTHUMP00000218106, ENST00000367623.8, OTTHUMT00000360391
      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
      cd05052
      Location:260522
      PTKc_Abl; Catalytic domain of the Protein Tyrosine Kinase, Abelson kinase
      pfam07714
      Location:267518
      Pkinase_Tyr; Protein tyrosine kinase
    4. NM_001168237.1NP_001161709.1  tyrosine-protein kinase ABL2 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
      Related
      ENSP00000424697.1, OTTHUMP00000218108, ENST00000511413.5, OTTHUMT00000360393
      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
      cd05052
      Location:281543
      PTKc_Abl; Catalytic domain of the Protein Tyrosine Kinase, Abelson kinase
      pfam07714
      Location:288539
      Pkinase_Tyr; Protein tyrosine kinase
    5. NM_001168238.1NP_001161710.1  tyrosine-protein kinase ABL2 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
      Related
      ENSP00000423413.1, OTTHUMP00000218107, ENST00000507173.5, OTTHUMT00000360392
      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
      cd05052
      Location:260522
      PTKc_Abl; Catalytic domain of the Protein Tyrosine Kinase, Abelson kinase
      pfam07714
      Location:267518
      Pkinase_Tyr; Protein tyrosine kinase
    6. NM_001168239.1NP_001161711.1  tyrosine-protein kinase ABL2 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
      Related
      ENSP00000426831.1, OTTHUMP00000218104, ENST00000504405.5, OTTHUMT00000360389
      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
      cd05052
      Location:245507
      PTKc_Abl; Catalytic domain of the Protein Tyrosine Kinase, Abelson kinase
      pfam07714
      Location:252503
      Pkinase_Tyr; Protein tyrosine kinase
    7. NM_005158.4NP_005149.4  tyrosine-protein kinase ABL2 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
      Related
      ENSP00000423578.1, OTTHUMP00000218103, ENST00000512653.5, OTTHUMT00000360388
      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
      cd05052
      Location:266528
      PTKc_Abl; Catalytic domain of the Protein Tyrosine Kinase, Abelson kinase
      pfam07714
      Location:273524
      Pkinase_Tyr; Protein tyrosine kinase
    8. NM_007314.3NP_009298.1  tyrosine-protein kinase ABL2 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
      ENSP00000427562.1, OTTHUMP00000033139, ENST00000502732.5, 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
      cd05052
      Location:281543
      PTKc_Abl; Catalytic domain of the Protein Tyrosine Kinase, Abelson kinase
      pfam07714
      Location:288539
      Pkinase_Tyr; Protein tyrosine kinase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_017001035.1XP_016856524.1  Abelson tyrosine-protein kinase 2 isoform X1

    2. XM_005245088.2XP_005245145.1  Abelson tyrosine-protein kinase 2 isoform X2

      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
      cd05052
      Location:245507
      PTKc_Abl; Catalytic domain of the Protein Tyrosine Kinase, Abelson kinase
      pfam07714
      Location:252503
      Pkinase_Tyr; Protein tyrosine kinase

    RNA

    1. XR_921765.1 RNA Sequence

    2. XR_921764.3 RNA Sequence

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