GATAD1

Chr 7AR

GATA zinc finger domain containing 1

Also known as: CMD2B, ODAG, RG083M05.2

NCBI Gene: 57798ENSG00000157259UniProt: Q8WUU5

The protein encoded by this gene contains a zinc finger at the N-terminus, and is thought to bind to a histone modification site that regulates gene expression. Mutations in this gene have been associated with autosomal recessive dilated cardiomyopathy. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]

Primary Disease Associations & Inheritance

?Cardiomyopathy, dilated, 2BMIM #614672
AR
595
ClinVar variants
84
Pathogenic / LP
0.43
pLI score
0
Active trials
Clinical Summary— GATAD1
🧬
Gene-Disease Validity (ClinGen)
dilated cardiomyopathy 2B · ARLimited

Limited evidence — not for standalone diagnostic reporting

⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.21) despite low pLI — interpret in context.
📋
ClinVar Variants
84 Pathogenic / Likely Pathogenic· 223 VUS of 595 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
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.
0.65LOEUF
pLI 0.430
Z-score 2.28
OE 0.21 (0.08–0.65)
Tolerant

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.
1.41Z-score
OE missense 0.62 (0.51–0.76)
68 obs / 109.7 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.0.21 (0.08–0.65)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.62 (0.51–0.76)
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.1.15
0≤1.21.6
LoF obs/exp: 2 / 9.6Missense obs/exp: 68 / 109.7Syn Z: -0.74

ClinVar Variant Classifications

595 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic41
Likely Pathogenic43
VUS223
Likely Benign241
Benign17
Conflicting30
41
Pathogenic
43
Likely Pathogenic
223
VUS
241
Likely Benign
17
Benign
30
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
19
1
21
0
41
Likely Pathogenic
29
5
9
0
43
VUS
7
183
27
6
223
Likely Benign
0
6
100
135
241
Benign
0
3
14
0
17
Conflicting
—30
Total55198171141595

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

View in ClinVar →

Protein Context — Lollipop Plot

GATAD1 · protein map & ClinVar variants

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

Gene2Phenotype Curations

GATAD1-related dilated cardiomyopathy

limited
ARUndeterminedUncertain
Cardiac
G2P ↗

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

?Cardiomyopathy, dilated, 2B

MIM #614672

Molecular basis of disorder known

Autosomal recessive
📖
GeneReview available — GATAD1
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Open GeneReview ↗
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Pathogenic mutations of human phosphorylation sites affect protein-protein interactions.
Rrustemi T et al.·Nat Commun
2024
Combination of bulk RNA and single-cell sequencing unveils PANoptosis-related immunological ecology hallmarks and classification for clinical decision-making in hepatocellular carcinoma.
Liu L et al.·Sci Rep
2024
Decreased expression and DNA methylation levels of GATAD1 in preeclamptic placentas.
Ma X et al.·Cell Signal
2014
Increased expression of GATA zinc finger domain containing 1 through gene amplification promotes liver cancer by directly inducing phosphatase of regenerating liver 3.
Sun W et al.·Hepatology
2018
CRISPR screen identifies GATAD1 as a synthetic lethal target with CDK4/6 inhibitors in estrogen receptor-positive breast cancer.
Liu W et al.·Med Oncol
2023
Association of uncertain significance genetic variants with myocardial mechanics and morphometrics in patients with nonischemic dilated cardiomyopathy.
Mėlinytė-Ankudavičė K et al.·BMC Cardiovasc Disord
2024Cohort
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