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

Gene ID: 27, updated on 12-Aug-2018

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; 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

Genomic context

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

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

  • 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...

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
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
 
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 
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 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 
Component Evidence Code Pubs
actin cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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