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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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GATAD1
GATA zinc finger domain containing 1
Chromosome 7 Β· 7q21.2
NCBI Gene: 57798Ensembl: ENSG00000157259.8HGNC: HGNC:29941UniProt: A0A2R8Y4H1
57PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleusnucleoplasmchromatin remodelingchromatin organizationneurodegenerative diseasedilated cardiomyopathydilated cardiomyopathy 2Bfamilial isolated dilated cardiomyopathy
✦AI Summary

GATAD1 is a chr7-associated transcription factor containing a GATA zinc finger domain that functions as a component of chr7 complexes recruited to H3K4me3-marked histone sites 1. Its primary mechanism involves epigenetic regulation through histone modification and chr7 architecture remodeling. GATAD1 represses transcription of developmental genes like KISS1 and TAC3 by recruiting histone demethylase KDM1A to reduce activating H3K4me2 marks 1. In cancer contexts, GATAD1 promotes proliferation by inducing long-range chr7 interactions at the CCND1 promoter in gliomas 2 and regulates SRRM2 expression in thyroid carcinoma recurrence 3. Clinically, GATAD1 is most significantly associated with dilated cardiomyopathy (DCM), where homozygous mutations cause autosomal recessive disease with aberrant nuclear localization and subcellular expression patterns in ventricular myocytes 4. A specific serine phosphorylation site mutation in GATAD1 causes DCM by disrupting 14-3-3 protein binding, which normally regulates nucleocytoplasmic transport via masking a nuclear localization signal 5. Adult zebrafish models confirm that GATAD1 mutations induce heart failure phenotypes under stress conditions 6. Additionally, GATAD1 shows reduced expression in preeclamptic placentas with altered DNA methylation patterns 7, and elevated expression correlates with poor prognosis in gliomas and thyroid cancer.

Sources cited
1
GATAD1 recruits KDM1A histone demethylase to repress KISS1 and TAC3 transcription by reducing H3K4me2
PMID: 26671628
2
GATAD1 amplification promotes glioma proliferation by promoting CCND1 transcription through long-range chromatin interactions
PMID: 31286678
3
GATAD1 overexpression in thyroid carcinoma promotes proliferation through SRRM2 expression and is a biomarker for recurrence
PMID: 36654960
4
Homozygous GATAD1 mutation causes autosomal recessive dilated cardiomyopathy with altered nuclear localization in ventricular myocytes
PMID: 21965549
5
Pathogenic GATAD1 phosphorylation site mutation disrupts 14-3-3 binding and nuclear localization signal masking, causing dilated cardiomyopathy
PMID: 38605029
6
Zebrafish gatad1 knockout and transgenic DCM-GATAD1-S102P models exhibit heart failure phenotypes under stress
PMID: 28955713
7
GATAD1 expression is significantly decreased in preeclamptic placentas with altered DNA methylation patterns
PMID: 24462704
8
GATAD1 expression is elevated in hepatocellular carcinoma PANoptosis-related malignant cell subgroups associated with aggressive potential
PMID: 39342037
Disease Associationsβ“˜21
neurodegenerative diseaseOpen Targets
0.49Moderate
dilated cardiomyopathyOpen Targets
0.48Moderate
dilated cardiomyopathy 2BOpen Targets
0.46Moderate
familial isolated dilated cardiomyopathyOpen Targets
0.37Weak
Zellweger spectrum disordersOpen Targets
0.34Weak
Zellweger syndromeOpen Targets
0.34Weak
Abnormality of the cardiovascular systemOpen Targets
0.19Weak
neoplasmOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.07Suggestive
glioblastoma multiformeOpen Targets
0.07Suggestive
gliomaOpen Targets
0.07Suggestive
brain compressionOpen Targets
0.02Suggestive
dislocationOpen Targets
0.02Suggestive
edemaOpen Targets
0.02Suggestive
type 2 diabetes mellitusOpen Targets
0.02Suggestive
osteosarcomaOpen Targets
0.02Suggestive
Ischemic strokeOpen Targets
0.01Suggestive
cardiomyopathyOpen Targets
0.01Suggestive
acute kidney injuryOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
Cardiomyopathy, dilated, 2BUniProt
Pathogenic Variants1
NM_021167.5(GATAD1):c.304T>C (p.Ser102Pro)Pathogenic
Dilated cardiomyopathy 2B
β˜†β˜†β˜†β˜†2011β†’ Residue 102
View on ClinVar β†—
Related Genes
SATB1Shared pathway100%PHF12Protein interaction97%KDM5AProtein interaction96%EMSYProtein interaction92%MORF4L1Protein interaction91%SIN3BProtein interaction88%
Tissue Expression6 tissues
Ovary
100%
Lung
54%
Liver
49%
Heart
43%
Bone Marrow
35%
Brain
28%
Gene Interaction Network
Click a node to explore
GATAD1SATB1PHF12KDM5AEMSYMORF4L1SIN3B
PROTEIN STRUCTURE
Preparing viewer…
PDB8Q1S Β· 3.23 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.79LoF Tolerant
pLIβ“˜
0.06Tolerant
Observed/Expected LoF0.85 [0.38–1.79]
RankingsWhere GATAD1 stands among ~20K protein-coding genes
  • #7,963of 20,598
    Most Researched57
  • #5,058of 5,498
    Most Pathogenic Variants1
  • #16,513of 17,882
    Most Constrained (LOEUF)1.79
Genes detectedGATAD1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Effect of
PMID: 36654960
Gland Surg Β· 2022
1.00
2
Pathogenic mutations of human phosphorylation sites affect protein-protein interactions.
PMID: 38605029
Nat Commun Β· 2024
0.90
3
Epigenetic regulation of puberty via Zinc finger protein-mediated transcriptional repression.
PMID: 26671628
Nat Commun Β· 2015
0.80
4
GATAD1 gene amplification promotes glioma malignancy by directly regulating CCND1 transcription.
PMID: 31286678
Cancer Med Β· 2019
0.70
5
Decreased expression and DNA methylation levels of GATAD1 in preeclamptic placentas.
PMID: 24462704
Cell Signal Β· 2014
0.60