Gene Gene information from NCBI Gene database.
Entrez ID 27
Gene name ABL proto-oncogene 2, non-receptor tyrosine kinase
Gene symbol ABL2
Synonyms (NCBI Gene)
ABLLARG
Chromosome 1
Chromosome location 1q25.2
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
miRNA miRNA information provided by mirtarbase database.
1386
miRTarBase ID miRNA Experiments Reference
MIRT021668 hsa-miR-140-3p Sequencing 20371350
MIRT027023 hsa-miR-103a-3p Sequencing 20371350
MIRT031452 hsa-miR-16-5p Sequencing 20371350
MIRT049012 hsa-miR-92a-3p CLASH 23622248
MIRT054860 hsa-miR-20a-5p RWPE-1 24464651
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
BTF3 Activation 17312387
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
59
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000287 Function Magnesium ion binding IDA 15886098
GO:0000287 Function Magnesium ion binding IEA
GO:0001784 Function Phosphotyrosine residue binding IEA
GO:0001784 Function Phosphotyrosine residue binding IPI 20624904
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
164690 77 ENSG00000143322
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P42684
Protein name Tyrosine-protein kinase ABL2 (EC 2.7.10.2) (Abelson murine leukemia viral oncogene homolog 2) (Abelson tyrosine-protein kinase 2) (Abelson-related gene protein) (Tyrosine-protein kinase ARG)
Protein function Non-receptor tyrosine-protein kinase that plays an ABL1-overlapping role in key processes linked to cell growth and survival such as cytoskeleton remodeling in response to extracellular stimuli, cell motility and adhesion and receptor endocytosi
PDB 2ECD , 2KK1 , 2XYN , 3GVU , 3HMI , 3ULR , 4EIH , 5NP3 , 5NP5
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00018 SH3_1 113 159 SH3 domain Domain
PF00017 SH2 173 248 SH2 domain Domain
PF07714 PK_Tyr_Ser-Thr 288 539 Protein tyrosine and serine/threonine kinase Domain
PF08919 F_actin_bind 1082 1182 F-actin binding Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed.
Sequence
MGQQVGRVGEAPGLQQPQPRGIRGSSAARPSGRRRDPAGRTTETGFNIFTQHDHFASCVE
DGFEGDKTGGSSPEALHRPYGCDVEPQALNEAIRWSSKENLLGATESDPNLFVALYDFVA
SGDNTLSITKGEKLRVLGYNQNGEWSEVRSKNGQGWVPS
NYITPVNSLEKHSWYHGPVSR
SAAEYLLSSLINGSFLVRESESSPGQLSISLRYEGRVYHYRINTTADGKVYVTAESRFST
LAELVHHH
STVADGLVTTLHYPAPKCNKPTVYGVSPIHDKWEMERTDITMKHKLGGGQYG
EVYVGVWKKYSLTVAVKTLKEDTMEVEEFLKEAAVMKEIKHPNLVQLLGVCTLEPPFYIV
TEYMPYGNLLDYLRECNREEVTAVVLLYMATQISSAMEYLEKKNFIHRDLAARNCLVGEN
HVVKVADFGLSRLMTGDTYTAHAGAKFPIKWTAPESLAYNTFSIKSDVWAFGVLLWEIAT
YGMSPYPGIDLSQVYDLLEKGYRMEQPEGCPPKVYELMRACWKWSPADRPSFAETHQAF
E
TMFHDSSISEEVAEELGRAASSSSVVPYLPRLPILPSKTRTLKKQVENKENIEGAQDATE
NSASSLAPGFIRGAQASSGSPALPRKQRDKSPSSLLEDAKETCFTRDRKGGFFSSFMKKR
NAPTPPKRSSSFREMENQPHKKYELTGNFSSVASLQHADGFSFTPAQQEANLVPPKCYGG
SFAQRNLCNDDGGGGGGSGTAGGGWSGITGFFTPRLIKKTLGLRAGKPTASDDTSKPFPR
SNSTSSMSSGLPEQDRMAMTLPRNCQRSKLQLERTVSTSSQPEENVDRANDMLPKKSEES
AAPSRERPKAKLLPRGATALPLRTPSGDLAITEKDPPGVGVAGVAAAPKGKEKNGGARLG
MAGVPEDGEQPGWPSPAKAAPVLPTTHNHKVPVLISPTLKHTPADVQLIGTDSQGNKFKL
LSEHQVTSSGDKDRPRRVKPKCAPPPPPVMRLLQHPSICSDPTEEPTALTAGQSTSETQE
GGKKAALGAVPISGKAGRPVMPPPQVPLPTSSISPAKMANGTAGTKVALRKTKQAAEKIS
ADKISKEALLECADLLSSALTEPVPNSQLVDTGHQLLDYCSGYVDCIPQTRNKFAFREAV
SKLELSLQELQVSSAAAGVPGTNPVLNNLLSCVQEISDVVQR
Sequence length 1182
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  ErbB signaling pathway
Ras signaling pathway
Chemical carcinogenesis - reactive oxygen species
Viral myocarditis
  Role of ABL in ROBO-SLIT signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CROHN'S DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Leukemia, acute myeloid with eosinophilia not provided ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SEASONAL ALLERGIC RHINITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Abetalipoproteinemia Abetalipoproteinemia BEFREE 28386107
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 12080468, 12406085
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31825826
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 25379720
★☆☆☆☆
Found in Text Mining only
Alpers Syndrome (disorder) Alpers Syndrome BEFREE 7518448
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 20110615 Associate
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 22131878
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Abdominal Aortic aneurysm Pubtator 27927271 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 21512169 Associate
★☆☆☆☆
Found in Text Mining only
Azoospermia, Nonobstructive Azoospermia BEFREE 24661730
★☆☆☆☆
Found in Text Mining only