TAL1

protein-coding

TAL bHLH transcription factor 1, erythroid differentiation factor, the group of Basic helix-loop-helix proteins

Gene summary

Enables several functions, including DNA-binding transcription factor activity; E-box 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, Jun 2026]

Previous symbols:

TCL5

MANE transcript

NM_001290403.2

Inheritance

—

ClinVar variants

U:52B:7

Top phenotype

TAL1-related disorder

gnomAD constraint

pLI —, LoF o/e 0.15

Max pathogenic AF

—

Genomic locus

chr1:47,216,290-47,232,225

External References & Databases

Ensembl (ENSG00000162367)

Transcript & Mutation Effects

hg38 • Region Span ~15.9 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TAL1 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 52

TAL1-related disorderTotal: 7

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001290403.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				5 clinvar		5
missense			52 clinvar	2 clinvar		54
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	52	7	0	59

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 19 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001290403.2	RefSeq	NP_001277332.1	3	MANE Select
ENST00000691006.1	Ensembl	ENSP00000510655.1	3	MANE Select
NM_001287347.2	RefSeq	NP_001274276.1	3	Standard
NM_001290404.1	RefSeq	NP_001277333.1	3	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
tal1	Danio rerio	Structure: myeloid cell Quality: absent abnormal

Gene / Model

Organism

Observed Phenotype

tal1

Danio rerio

Structure: myeloid cell

Quality: absent

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

EGF-Core
HDAC6 interactions
Gene expression (Transcription)
Generic Transcription Pathway
RNA Polymerase II Transcription

Biological Process

negative regulation of transcription by RNA polymerase II
angiogenesis
regulation of transcription by RNA polymerase II
transcription by RNA polymerase II
locomotory behavior

Molecular Function

RNA polymerase II regulatory region sequence-specific DNA binding
RNA polymerase II distal enhancer sequence-specific DNA binding
DNA-binding transcription factor activity, RNA polymerase II-specific
RNA polymerase II transcription factor binding
chromatin binding

Cellular Component

histone deacetylase complex
nuclear chromatin
nucleus
nucleoplasm
transcription factor complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000294339
Coding exons: 3
Length: 15931
Individuals with no LoFs: 121909
Homozygous LoFs: 0
Heterozygous LoFs: 5
Defined: 121914
p: 0.0000205

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.979	122	156	0.780	0.00000925	2055
Missense (PolyPhen)		36	66.378	0.54235		696
Synonymous	1.25	59	72.6	0.813	0.00000454	745
Loss of Function	2.05	1	6.74	0.148	4.12e-7	90

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000042	0.000037	rare
South Asian	0.000034	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Implicated in the genesis of hemopoietic malignancies. It may play an important role in hemopoietic differentiation. Serves as a positive regulator of erythroid differentiation (By similarity). {ECO:0000250, ECO:0000269|PubMed:1396592}.;
Disease: DISEASE: Note=A chromosomal aberration involving TAL1 may be a cause of some T-cell acute lymphoblastic leukemias (T-ALL). Translocation t(1;14)(p32;q11) with T-cell receptor alpha chain (TCRA) genes. {ECO:0000269|PubMed:2303035}.;

Recessive Scores

pRec: 0.186

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 1.00

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium