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

Gene ID: 27, updated on 11-Apr-2024

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; AllianceGenome:HGNC:77
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
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Genomic context

Location:
1q25.2
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (179099330..179229677, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (178454335..178584699, complement)
105.20220307 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 ribosomal protein S26 pseudogene 16 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1585 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1586 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1587 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:179055021-179055521 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:179056771-179057672 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:179057673-179058574 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:179060592-179061092 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:179061093-179061593 Neighboring gene torsin family 3 member A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:179082493-179082994 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:179082995-179083494 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2149 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:179107953-179108459 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:179111778-179112977 Neighboring gene uncharacterized LOC124900432 Neighboring gene small nucleolar RNA SNORA67 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 H3K27ac hESC enhancer GRCh37_chr1:179198106-179198862 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:179219631-179219803 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

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 tyrosine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables protein tyrosine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein tyrosine kinase activity IMP
Inferred from Mutant Phenotype
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 response to retinoic acid IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in epidermal growth factor receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
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 
involved_in positive regulation of T cell migration ISS
Inferred from Sequence or Structural Similarity
more info
 
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 establishment of T cell polarity ISS
Inferred from Sequence or Structural Similarity
more info
 
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 protein modification process TAS
Traceable Author Statement
more info
PubMed 
involved_in protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in regulation of actin cytoskeleton organization 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
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
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
XP_054191965.1
XP_054191966.1

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, ENST00000344730.8
    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
    UniProtKB/Swiss-Prot
    P42684
    Related
    ENST00000668691.1
    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
    A0M8X0, B7UEF2, B7UEF3, B7UEF4, B7UEF5, P42684, Q5T0X6, Q5W0C5, Q6NZY6, Q7Z301
    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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    179099330..179229677 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001035.2XP_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_005245088.3XP_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_921765.2 RNA Sequence

  2. XR_007058798.1 RNA Sequence

  3. XR_921764.4 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    178454335..178584699 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054335990.1XP_054191965.1  tyrosine-protein kinase ABL2 isoform X1

  2. XM_054335991.1XP_054191966.1  tyrosine-protein kinase ABL2 isoform X2

RNA

  1. XR_008485997.1 RNA Sequence

  2. XR_008485995.1 RNA Sequence

  3. XR_008485996.1 RNA Sequence