TAL1

Chr 1

TAL bHLH transcription factor 1, erythroid differentiation factor

Also known as: SCL, TCL5, bHLHa17, tal-1

NCBI Gene: 6886ENSG00000162367UniProt: P17542

Enables several functions, including E-box binding activity; RNA polymerase II-specific DNA-binding transcription factor binding activity; and histone deacetylase binding activity. Involved in several processes, including myeloid cell differentiation; positive regulation of cellular component organization; and positive regulation of erythrocyte differentiation. Located in chromatin and nucleoplasm. Part of transcription regulator complex. Implicated in acute lymphoblastic leukemia. [provided by Alliance of Genome Resources, Jul 2025]

Primary Disease Associations & Inheritance

Leukemia, T-cell acute lymphocytic, somaticMIM #613065
73
ClinVar variants
8
Pathogenic / LP
0.57
pLI score
0
Active trials
Clinical Summary— TAL1
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.57) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
8 Pathogenic / Likely Pathogenic· 53 VUS of 73 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.70LOEUF
pLI 0.566
Z-score 2.05
OE 0.15 (0.05–0.70)
Moderately constrained

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.98Z-score
OE missense 0.78 (0.67–0.91)
122 obs / 156.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.15 (0.05–0.70)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.78 (0.67–0.91)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.81
0≤1.21.6
LoF obs/exp: 1 / 6.7Missense obs/exp: 122 / 156.4Syn Z: 1.25

ClinVar Variant Classifications

73 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic5
Likely Pathogenic3
VUS53
Likely Benign7
Benign5
5
Pathogenic
3
Likely Pathogenic
53
VUS
7
Likely Benign
5
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
5
0
5
Likely Pathogenic
0
0
3
0
3
VUS
0
52
1
0
53
Likely Benign
0
2
0
5
7
Benign
0
0
3
2
5
Total05412773

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

View in ClinVar →

Protein Context — Lollipop Plot

TAL1 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Leukemia, T-cell acute lymphocytic, somatic

MIM #613065

Molecular basis of disorder known

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Advancing regulatory variant effect prediction with AlphaGenome.
Avsec Ž et al.·Nature
2026
Rheumatoid arthritis, systemic lupus erythematosus and primary Sjögren's syndrome shared megakaryocyte expansion in peripheral blood.
Wang Y et al.·Ann Rheum Dis
2022
Erythropoietin (EPO) as a Key Regulator of Erythropoiesis, Bone Remodeling and Endothelial Transdifferentiation of Multipotent Mesenchymal Stem Cells (MSCs): Implications in Regenerative Medicine.
Tsiftsoglou AS·Cells
2021Review
Genomic imbalance analysis provides new insight into prognostic factors in adult and pediatric T-ALL.
Balducci E et al.·Blood
2024Clinical trial
The role of quiescent thymic progenitors in TAL/LMO2-induced T-ALL chemotolerance.
O'Connor KW et al.·Leukemia
2024
Clinical, Immunologic, and Genetic Characteristics of T-lymphoblastic Leukemia with STIL-TAL1 Fusion.
Kim SM et al.·Clin Lab
2025
Molecular markers in ALL: Clinical implications.
Kimura S et al.·Best Pract Res Clin Haematol
2020Review
Remdesivir inhibits endothelial activation and atherosclerosis by coupling TAL1 to TRAF6.
Zhang H et al.·J Transl Med
2025
Transcriptome-wide subtyping of pediatric and adult T cell acute lymphoblastic leukemia in an international study of 707 cases.
Dai YT et al.·Proc Natl Acad Sci U S A
2022Cohort
Transcriptional regulatory program controlled by MYB in T-cell acute lymphoblastic leukemia.
Shao X et al.·Leukemia
2024
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools