GATA1

Chr X

GATA binding protein 1

Also known as: CNSHA9, ERYF1, GATA-1, GF-1, GF1, HAEADA, NF-E1, NFE1

NCBI Gene: 2623ENSG00000102145UniProt: P15976

This gene encodes a protein which belongs to the GATA family of transcription factors. The protein plays an important role in erythroid development by regulating the switch of fetal hemoglobin to adult hemoglobin. Mutations in this gene have been associated with X-linked dyserythropoietic anemia and thrombocytopenia. [provided by RefSeq, Jul 2008]

Primary Disease Associations & Inheritance

UniProtX-linked dyserythropoietic anemia and thrombocytopenia
UniProtThrombocytopenia with beta-thalassemia, X-linked
UniProtAnemia without thrombocytopenia, X-linked
UniProtAnemia, congenital, non-spherocytic hemolytic, 9
403
ClinVar variants
129
Pathogenic / LP
0.95
pLI score· haploinsufficient
2
Active trials
Clinical Summary— GATA1
🧬
Gene-Disease Validity (ClinGen)
GATA1-Related X-Linked Cytopenia · XLDefinitive

Definitive — sufficient evidence for diagnostic panels

⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.95). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
129 Pathogenic / Likely Pathogenic· 140 VUS of 403 total submissions
💊
Clinical Trials
2 active or recruiting trials — potential therapeutic options may be available
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
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.
0.32LOEUF
pLI 0.948
Z-score 2.83
OE 0.00 (0.00–0.32)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

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.
1.14Z-score
OE missense 0.76 (0.66–0.88)
133 obs / 175.3 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.0.00 (0.00–0.32)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.76 (0.66–0.88)
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.0.98
0≤1.21.6
LoF obs/exp: 0 / 9.3Missense obs/exp: 133 / 175.3Syn Z: 0.11

ClinVar Variant Classifications

403 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic113
Likely Pathogenic16
VUS140
Likely Benign88
Benign24
Conflicting22
113
Pathogenic
16
Likely Pathogenic
140
VUS
88
Likely Benign
24
Benign
22
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
32
5
75
1
113
Likely Pathogenic
7
5
4
0
16
VUS
3
118
17
2
140
Likely Benign
0
13
13
62
88
Benign
0
9
5
10
24
Conflicting
—22
Total4215011475403

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

View in ClinVar →

Protein Context — Lollipop Plot

GATA1 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

📖
GeneReview available — GATA1
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Open GeneReview ↗
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Acute Erythroid Leukemia: From Molecular Biology to Clinical Outcomes.
Fernandes P et al.·Int J Mol Sci
2024Review
Rheumatoid arthritis, systemic lupus erythematosus and primary Sjögren's syndrome shared megakaryocyte expansion in peripheral blood.
Wang Y et al.·Ann Rheum Dis
2022
Genomic and Transcriptomic Analyses of Breast Cancer Primaries and Matched Metastases in AURORA, the Breast International Group (BIG) Molecular Screening Initiative.
Aftimos P et al.·Cancer Discov
2021
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
Regulated GATA1 expression as a universal gene therapy for Diamond-Blackfan anemia.
Voit RA et al.·Cell Stem Cell
2025
Diamond-Blackfan anemia.
Da Costa LM et al.·Hematology Am Soc Hematol Educ Program
2021Case report
Genetic control of erythropoiesis.
Tumburu L et al.·Curr Opin Hematol
2017Review
c-MYB and DMTF1 in Cancer.
Fry EA et al.·Cancer Invest
2019Review
Regulation of GATA1 levels in erythropoiesis.
Gutiérrez L et al.·IUBMB Life
2020Review
Myelofibrosis biology and contemporary management.
Gangat N et al.·Br J Haematol
2020Review
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
Genetic Neurodevelopmental Disorders

Hypogonadotrophic Hypogonadism in Genetic Neurodevelopmental Conditions

RECRUITING
NCT07049042University of SheffieldStarted 2025-01-08
Fetal HemoglobinBeta-ThalassemiaHemoglobinopathies

Long Term Beta Thalassemia Treatment: Findings From The Extension Period

ACTIVE NOT RECRUITING
NCT06490601Phase PHASE2National Institute of Blood and Marrow Transplant (NIBMT), PakistanStarted 2022-04-01
thalidomide and hydroxyureaThalidomide

External Resources

Links to major genomics databases and tools