TAL2

Chr 9

TAL bHLH transcription factor 2

Also known as: TAL-2

NCBI Gene: 6887ENSG00000186051UniProt: Q16559OMIM: 186855

This gene encodes a helix-loop-helix transcription factor involved in T-cell development. Somatic translocations involving TAL2 are associated with T-cell acute lymphoblastic leukemia through gene activation rather than germline mutations causing inherited disease. The genetic alterations occur somatically in hematopoietic cells and are not inherited in families.

OMIMResearchSummary from RefSeq, OMIM
DNmechanismLOEUF 1.471 OMIM phenotype
Clinical Summary— TAL2
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.00) despite low pLI — interpret in context.
📋
ClinVar Variants
38 unique Pathogenic / Likely Pathogenic· 22 VUS of 60 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.47LOEUF
pLI 0.474
Z-score 1.21
OE 0.00 (0.00–1.47)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.14Z-score
OE missense 0.95 (0.76–1.19)
53 obs / 56.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.00 (0.00–1.47)
0≤0.351.4
Missense OE0.95 (0.76–1.19)
0≤0.61.4
Synonymous OE0.84
0≤1.21.6
LoF obs/exp: 0 / 1.7Missense obs/exp: 53 / 56.0Syn Z: 0.59
DN
0.6454th %ile
GOF
0.6150th %ile
LOF
0.60top 25%

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

60 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic36
Likely Pathogenic2
VUS22
36
Pathogenic
2
Likely Pathogenic
22
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
36
0
36
Likely Pathogenic
0
0
2
0
2
VUS
0
13
9
0
22
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total01347060

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

TAL2 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 2 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients