ABL2

Chr 1

ABL proto-oncogene 2, non-receptor tyrosine kinase

Also known as: ABLL, ARG

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]

OMIMResearchGenerating clinical summary…
0
Active trials
34
Pubs (1 yr)
P/LP submissions
P/LP missense
0.58
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint?
0.58LOEUF
pLI 0.000
Z-score 3.94
OE 0.40 (0.280.58)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.69Z-score
OE missense 0.81 (0.760.87)
520 obs / 640.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.40 (0.280.58)
00.351.4
Missense OE?0.81 (0.760.87)
00.61.4
Synonymous OE?1.07
01.21.6
LoF obs/exp: 20 / 50.1Missense obs/exp: 520 / 640.0Syn Z: -0.81

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ABL2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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