Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 27, updated on 17-Jan-2022

    Summary

    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
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ABL2 in Genome Data Viewer
    Location:
    1q25.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (179099330..179229693, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (179068465..179198812, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene FAM20B glycosaminoglycan xylosylkinase Neighboring gene Sharpr-MPRA regulatory region 11809 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

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ22224, FLJ31718, FLJ41441

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables actin filament binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables actin monomer binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables magnesium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables manganese ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables non-membrane spanning protein tyrosine kinase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables phosphotyrosine residue binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein serine/threonine/tyrosine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein tyrosine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables protein tyrosine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein tyrosine kinase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    involved_in cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular protein modification process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cellular response to retinoic acid IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within exploration behavior ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within negative regulation of Rho protein signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in peptidyl-tyrosine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of cytosolic calcium ion concentration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of neuron projection development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of oxidoreductase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of phospholipase C activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of actin cytoskeleton reorganization TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of autophagy TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of cell adhesion TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of cell motility TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of endocytosis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in actin cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    tyrosine-protein kinase ABL2
    Names
    Abelson tyrosine-protein kinase 2
    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5008..135355
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001136000.3NP_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, ENST00000344730.7
      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_001136001.2NP_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, ENST00000392043.4
      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_001168236.2NP_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, ENST00000367623.8
      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_001168237.2NP_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, ENST00000511413.5
      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_001168238.2NP_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, ENST00000507173.5
      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_001168239.2NP_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, ENST00000504405.5
      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_005158.5NP_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, ENST00000512653.5
      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_007314.4NP_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, ENST00000502732.6
      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 Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      179099330..179229693 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017001035.1XP_016856524.1  tyrosine-protein kinase ABL2 isoform X1

      Conserved Domains (4) 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
    2. XM_005245088.2XP_005245145.1  tyrosine-protein kinase ABL2 isoform X2

      See identical proteins and their annotated locations for XP_005245145.1

      UniProtKB/Swiss-Prot
      P42684
      Conserved Domains (4) 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

    RNA

    1. XR_921765.1 RNA Sequence

    2. XR_921764.3 RNA Sequence

    Support Center