• Gene id: 27

Gene Summary

• Gene Symbol: ABL2   Gene   UCSC   Ensembl
• Aliases: ABLL, ARG
• Gene name: ABL proto-oncogene 2, non-receptor tyrosine kinase
• Alternate names: tyrosine-protein kinase ABL2, 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,
• Gene location: 1q25.2 (179229692: 179099329)     Exons: 16     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 164690

SNPs

rs397515563

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.34517468G>A
NC_000009.11   g.34517466G>A
NG_008127.1   g.63656G>A|SEQ=[G/A]|GENE=DNAI1

rs397515363

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000009.12   g.34459055dup
NC_000009.11   g.34459053dup
NG_008127.1   g.5243dup
NG_027971.1   g.4516dup|SEQ=[T/TT]|GENE=DNAI1
FAM219A   203259

rs397515358

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.74286974T>G
NC_000017.10   g.72283113T>G
NG_016865.1   g.17728T>G|SEQ=[T/G]|GENE=DNAI2

rs376252276

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.34513112G>A
NC_000009.12   g.34513112G>C
NC_000009.12   g.34513112G>T
NC_000009.11   g.34513110G>A
NC_000009.11   g.34513110G>C
NC_000009.11   g.34513110G>T
NG_008127.1   g.59300G>A
NG_008127.1   g.59300G>C
NG_008127.1   g.59300G>T
NM_012144.4   c.1490G

rs62180545

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.216859821A>G
NC_000002.11   g.217724544A>G|SEQ=[A/G]|GENE=TNP1
LOC101928278   101928278

rs17840762

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.125241708G>A
NC_000009.11   g.128003987G>A
NG_027761.1   g.4680C>T
NG_063123.1   g.439G>A
XR_001746927.1   n.46G>A|SEQ=[G/A]|GENE=HSPA5
LOC107987127   107987127

rs17840761

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.125241700G>A
NC_000009.11   g.128003979G>A
NG_027761.1   g.4688C>T
NG_063123.1   g.431G>A
XR_001746927.1   n.38G>A|SEQ=[G/A]|GENE=HSPA5
LOC107987127   107987127

rs11754464

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31755958C>T
NC_000006.11   g.31723735C>T
NG_011611.1   g.20962C>T
NT_113891.3   g.3233215C>T
NT_113891.2   g.3233321C>T
NT_167245.2   g.3003732C>T
NT_167245.1   g.3009317C>T
NT_167247.2   g.3097847C>T
NT_167247.1   g.3103432C>T
NT_167248.2   g.3011780C>

rs10250822

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.17293365C>A
NC_000007.14   g.17293365C>G
NC_000007.14   g.17293365C>T
NC_000007.13   g.17332989C>A
NC_000007.13   g.17332989C>G
NC_000007.13   g.17332989C>T|SEQ=[C/A/G/T]|GENE=LOC101927609

rs10247158

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.17285544A>T
NC_000007.13   g.17325168A>T|SEQ=[A/T]|GENE=LOC101927609

rs7156586

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.75039527A>T
NC_000014.8   g.75506230A>T
NG_008649.1   g.17006T>A|SEQ=[A/T]|GENE=MLH3

rs7004637

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000008.11   g.42392929A>G
NC_000008.10   g.42250447A>G|SEQ=[A/G]|GENE=VDAC3
DKK4   27121

rs3216733

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000009.12   g.125241516_125241517del
NC_000009.12   g.125241517del
NC_000009.12   g.125241517dup
NC_000009.12   g.125241516_125241517dup
NC_000009.11   g.128003795_128003796del
NC_000009.11   g.128003796del
NC_000009.11   g.128003796dup
NC_000009.11   g.128003795

rs2126986

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.56317795A>G
NC_000016.9   g.56351707A>G
NG_042800.1   g.131457A>G|SEQ=[A/G]|GENE=GNAO1

rs175080

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.75047125G>A
NC_000014.8   g.75513828G>A
NG_008649.1   g.9408C>T
NM_014381.3   c.2531C>T
NM_014381.2   c.2531C>T
NM_001040108.2   c.2531C>T
NM_001040108.1   c.2531C>T
XM_005267532.5   c.2531C>T
XM_005267532.1   c.2531C>T
XM_005267533.5   c.2531C>T
XM_0052  

rs2267437

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.41620695C>A
NC_000022.11   g.41620695C>G
NC_000022.10   g.42016699C>A
NC_000022.10   g.42016699C>G|SEQ=[C/A/G]|GENE=XRCC6
DESI1   27351

rs10249788

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.17298523C>G
NC_000007.14   g.17298523C>T
NC_000007.13   g.17338147C>G
NC_000007.13   g.17338147C>T
XR_927073.2   n.16G>C
XR_927073.2   n.16G>A|SEQ=[C/G/T]|GENE=AHR
LOC101927609   101927609

rs4919686

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.102832492A>C
NC_000010.10   g.104592249A>C
NG_007955.1   g.10042T>G|SEQ=[A/C]|GENE=CYP17A1
CYP17A1-AS1   102724307

rs3757824

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.17296411T>C
NC_000007.14   g.17296411T>G
NC_000007.13   g.17336035T>C
NC_000007.13   g.17336035T>G|SEQ=[T/C/G]|GENE=LOC101927609

rs1106042

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.130357093G>A
NC_000012.11   g.130841638G>A
NT_187589.1   g.34018G>A
NM_004764.4   c.1580G>A
NM_004764.5   c.1580G>A
XM_011539004.3   c.1580G>A
XM_011539002.3   c.1580G>A
XM_011539003.3   c.1580G>A
XM_011539006.3   c.440G>A
XM_011539005.1   c.1580G>A
XM_  

rs5764698

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.45354103G>C
NC_000022.11   g.45354103G>T
NC_000022.10   g.45749983G>C
NC_000022.10   g.45749983G>T
NM_148674.5   c.3148C>G
NM_148674.5   c.3148C>A
NM_148674.4   c.3148C>G
NM_148674.4   c.3148C>A
NM_148674.3   c.3148C>G
NM_148674.3   c.3148C>A
XR_244368.  

Protein Summary

• Protein general information: P42684  
  • 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)
  • Length: 1182  
  • Mass: 128343
  • Tissue specificity: Widely expressed.
• Sequence:

  MGQQVGRVGEAPGLQQPQPRGIRGSSAARPSGRRRDPAGRTTETGFNIFTQHDHFASCVEDGFEGDKTGGSSPEA
  LHRPYGCDVEPQALNEAIRWSSKENLLGATESDPNLFVALYDFVASGDNTLSITKGEKLRVLGYNQNGEWSEVRS
  KNGQGWVPSNYITPVNSLEKHSWYHGPVSRSAAEYLLSSLINGSFLVRESESSPGQLSISLRYEGRVYHYRINTT
  ADGKVYVTAESRFSTLAELVHHHSTVADGLVTTLHYPAPKCNKPTVYGVSPIHDKWEMERTDITMKHKLGGGQYG
  EVYVGVWKKYSLTVAVKTLKEDTMEVEEFLKEAAVMKEIKHPNLVQLLGVCTLEPPFYIVTEYMPYGNLLDYLRE
  CNREEVTAVVLLYMATQISSAMEYLEKKNFIHRDLAARNCLVGENHVVKVADFGLSRLMTGDTYTAHAGAKFPIK
  WTAPESLAYNTFSIKSDVWAFGVLLWEIATYGMSPYPGIDLSQVYDLLEKGYRMEQPEGCPPKVYELMRACWKWS
  PADRPSFAETHQAFETMFHDSSISEEVAEELGRAASSSSVVPYLPRLPILPSKTRTLKKQVENKENIEGAQDATE
  NSASSLAPGFIRGAQASSGSPALPRKQRDKSPSSLLEDAKETCFTRDRKGGFFSSFMKKRNAPTPPKRSSSFREM
  ENQPHKKYELTGNFSSVASLQHADGFSFTPAQQEANLVPPKCYGGSFAQRNLCNDDGGGGGGSGTAGGGWSGITG
  FFTPRLIKKTLGLRAGKPTASDDTSKPFPRSNSTSSMSSGLPEQDRMAMTLPRNCQRSKLQLERTVSTSSQPEEN
  VDRANDMLPKKSEESAAPSRERPKAKLLPRGATALPLRTPSGDLAITEKDPPGVGVAGVAAAPKGKEKNGGARLG
  MAGVPEDGEQPGWPSPAKAAPVLPTTHNHKVPVLISPTLKHTPADVQLIGTDSQGNKFKLLSEHQVTSSGDKDRP
  RRVKPKCAPPPPPVMRLLQHPSICSDPTEEPTALTAGQSTSETQEGGKKAALGAVPISGKAGRPVMPPPQVPLPT
  SSISPAKMANGTAGTKVALRKTKQAAEKISADKISKEALLECADLLSSALTEPVPNSQLVDTGHQLLDYCSGYVD
  CIPQTRNKFAFREAVSKLELSLQELQVSSAAAGVPGTNPVLNNLLSCVQEISDVVQR

• Structural information:
  • Protein Domains: (107..16-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192-)
    (173..26-)
    (/note="SH2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00191-)
    (288..53-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159"-)
  • Interpro: IPR035837  IPR015015  IPR011009  IPR000719  IPR017441   IPR001245  IPR000980  IPR036860  IPR036028  IPR001452  IPR008266  IPR020635  
  • Prosite: PS00107 PS50011 PS00109 PS50001 PS50002
  • CDD: cd09935
  • PDB: 2ECD 2KK1 2XYN 3GVU 3HMI 3ULR 4EIH 5NP3 5NP5
  • PDBsum: 2ECD 2KK1 2XYN 3GVU 3HMI 3ULR 4EIH 5NP3 5NP5
  • DIP: 91
  • STRING: ENSP00000427562
• Other Databases: GeneCards:  ABL2  Malacards:  ABL2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035024	negative regulation of Rho protein signal transduction	ISS	biological process
GO:0035640	exploration behavior	ISS	biological process
GO:0042981	regulation of apoptotic process	IBA	biological process
GO:2000145	regulation of cell motility	TAS	biological process
GO:0051015	actin filament binding	TAS	molecular function
GO:0030155	regulation of cell adhesion	TAS	biological process
GO:0015629	actin cytoskeleton	TAS	cellular component
GO:0010506	regulation of autophagy	TAS	biological process
GO:0004715	non-membrane spanning protein tyrosine kinase activity	TAS	molecular function
GO:0003785	actin monomer binding	TAS	molecular function
GO:2000249	regulation of actin cytoskeleton reorganization	TAS	biological process
GO:0030100	regulation of endocytosis	TAS	biological process
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0004715	non-membrane spanning protein tyrosine kinase activity	IEA	molecular function
GO:0004672	protein kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0007155	cell adhesion	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0004672	protein kinase activity	TAS	molecular function
GO:0006464	cellular protein modification process	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0004715	non-membrane spanning protein tyrosine kinase activity	IEA	molecular function
GO:0010863	positive regulation of phospholipase C activity	IMP	biological process
GO:0007204	positive regulation of cytosolic calcium ion concentration	IMP	biological process
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051353	positive regulation of oxidoreductase activity	IDA	biological process
GO:0010976	positive regulation of neuron projection development	IMP	biological process
GO:0071300	cellular response to retinoic acid	IMP	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0001784	phosphotyrosine residue binding	IPI	molecular function
GO:0001784	phosphotyrosine residue binding	IPI	molecular function
GO:0030145	manganese ion binding	IDA	molecular function
GO:0018108	peptidyl-tyrosine phosphorylation	IDA	biological process
GO:0004713	protein tyrosine kinase activity	IDA	molecular function
GO:0000287	magnesium ion binding	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04014	Ras signaling pathway
hsa04012	ErbB signaling pathway
hsa05416	Viral myocarditis

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq