GATA6

Summary

GATA6 (GATA binding protein 6, HGNC:4174) is a protein-coding gene on chromosome 18q11.2, encoding Transcription factor GATA-6 (Q92908). Transcriptional activator. It is haploinsufficient (ClinGen: sufficient evidence).

This gene is a member of a small family of zinc finger transcription factors that play an important role in the regulation of cellular differentiation and organogenesis during vertebrate development. This gene is expressed during early embryogenesis and localizes to endo- and mesodermally derived cells during later embryogenesis and thereby plays an important role in gut, lung, and heart development. Mutations in this gene are associated with several congenital defects.

Source: NCBI Gene 2627 — RefSeq curated summary.

At a glance

• Gene–disease (curated): GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes (Definitive, ClinGen) — +9 more curated relationships
• GWAS associations: 12
• Clinical variants (ClinVar): 760 total — 35 pathogenic, 14 likely-pathogenic
• Phenotypes (HPO): 123
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• Transcription factor: yes — 89 downstream targets (CollecTRI)
• MANE Select transcript: NM_005257

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4174
Approved symbol	GATA6
Name	GATA binding protein 6
Location	18q11.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000141448
Ensembl biotype	protein_coding
OMIM	601656
Entrez	2627

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 9 protein_coding

ENST00000269216, ENST00000581694, ENST00000853535, ENST00000853536, ENST00000853537, ENST00000944915, ENST00000944916, ENST00000944917, ENST00000944918

RefSeq mRNA: 1 — MANE Select: NM_005257 NM_005257

CCDS: CCDS11872

Canonical transcript exons

ENST00000269216 — 7 exons

Exon	Start	End
ENSE00000948602	22176955	22177121
ENSE00000948603	22181453	22181578
ENSE00000948604	22182757	22182844
ENSE00000948605	22182940	22183043
ENSE00001239777	22200656	22202528
ENSE00001239786	22171108	22172279
ENSE00001378476	22169589	22169682

Expression profiles

Bgee: expression breadth ubiquitous, 204 present calls, max score 99.06.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.8856 / max 704.7955, expressed in 1181 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
169622	10.9375	1056
169618	4.1589	691
169621	2.6796	788
169617	0.8487	350
169620	0.6680	398
169619	0.3695	209
169627	0.0923	30
169626	0.0711	25
169623	0.0600	29

Top tissues by expression

281 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
germinal epithelium of ovary	UBERON:0001304	99.06	gold quality
parietal pleura	UBERON:0002400	97.30	gold quality
jejunal mucosa	UBERON:0000399	96.94	gold quality
pylorus	UBERON:0001166	96.29	gold quality
heart right ventricle	UBERON:0002080	95.90	gold quality
cardiac muscle of right atrium	UBERON:0003379	95.35	gold quality
myocardium	UBERON:0002349	95.28	gold quality
right ovary	UBERON:0002118	95.26	gold quality
pleura	UBERON:0000977	94.94	gold quality
left ovary	UBERON:0002119	94.87	gold quality
lower lobe of lung	UBERON:0008949	94.48	gold quality
ovary	UBERON:0000992	94.32	gold quality
left adrenal gland	UBERON:0001234	94.30	gold quality
adrenal cortex	UBERON:0001235	94.11	gold quality
left adrenal gland cortex	UBERON:0035825	94.07	gold quality
right adrenal gland	UBERON:0001233	93.69	gold quality
cardiac atrium	UBERON:0002081	93.54	gold quality
adrenal gland	UBERON:0002369	93.44	gold quality
right atrium auricular region	UBERON:0006631	93.34	gold quality
right adrenal gland cortex	UBERON:0035827	93.34	gold quality
colonic mucosa	UBERON:0000317	93.04	gold quality
mucosa of sigmoid colon	UBERON:0004993	93.03	gold quality
cardiac ventricle	UBERON:0002082	92.73	gold quality
left ventricle myocardium	UBERON:0006566	92.71	gold quality
heart left ventricle	UBERON:0002084	92.61	gold quality
blood vessel layer	UBERON:0004797	92.61	gold quality
heart	UBERON:0000948	92.43	gold quality
apex of heart	UBERON:0002098	92.21	gold quality
superficial temporal artery	UBERON:0001614	91.58	gold quality
left uterine tube	UBERON:0001303	91.56	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-MTAB-10018	yes	72.26
E-ANND-3	yes	13.70
E-MTAB-9388	yes	9.23
E-MTAB-8271	yes	7.36
E-MTAB-7249	yes	2.88

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

89 targets.

Target	Regulation
ABCA3	Activation
ABCG8
ACTA2
ACTG2
ALOX15	Repression
APC
APOA1	Unknown
AQP5
BMP2
BMP4
CALR
CAV1	Repression
CDH1	Unknown
CDX2	Unknown
CLDN11	Activation
CLMP
CX3CL1
CYB5A	Activation
CYP11A1	Activation
CYP17A1	Activation
DAB2	Activation
DKK1	Unknown
DPPA4
DUSP16
EIF3K
FABP1
FASLG
FGF5
FZD2
GATA4	Activation

JASPAR motifs

Motif	Name	Family
MA1104.1	GATA6	C4-GATA-related
MA1104.2	GATA6	C4-GATA-related
MA1104.3	GATA6	C4-GATA-related

JASPAR matrix evidence (PMIDs): PMID:8321207, PMID:9915795

Upstream regulators (CollecTRI, top): GATA4, GATA6, HEY1, HEY2, NANOG, NR2F1, POU5F1, PRDM4, SOX2, SOX7, SP1, TBX3

miRNA regulators (miRDB)

181 targeting GATA6, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-196A-5P	100.00	68.16	684
HSA-MIR-196B-5P	100.00	68.16	681
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-92A-3P	99.98	75.21	1960

Functional genomics

ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• GATA-4 and GATA-6 mRNAs are readily detectable from gestational week 19 in human adrenal cortex. (PMID:12530677)
• role in trans-activation of bone morphogenetic protein 4 and regulation of mammalian organogenesis (PMID:12606287)
• The activation of PPARgamma-dependent pathways induces the differentiated phenotype in proliferative VSMCs, and this induction is mediated, in part, through a GATA-6-dependent transcriptional mechanism. (PMID:12615657)
• GATA-6 did not correlate with apoptosis or cell proliferation and is therefore unlikely to be directly involved in these processes in the human fetal testis (PMID:12679484)
• GATA-6 was expressed in most yolk sac tumors examined and also in nonmalignant tissues including gut/respiratory epithelium, sebocytes, and neuroepithelium in mature and immature teratomas (PMID:12867597)
• Normal postnatal morphogenesis of the lung depends upon precise temporal-spatial regulation of GATA-6. (PMID:12909592)
• Adrenal uses GATA-6 to enhance transcription of steroid-metabolizing enzymes needed to produce dehydroepiandrosterone sulfate. Additionally, GATA-6 works in synergy with SF1 to maximally increase expression of enzymes needed to produce adrenal androgens. (PMID:12959982)
• Both steroidogenic factor 1 and GATA-6 were positive regulators of Steroid sulfotransferase 2A1 promoter constructs (PMID:15388788)
• Steroidogenically active human adrenocortical cells were weakly positive for GATA-4, whereas steroidogenically inactive cells were totally GATA-4 negative. In contrast, both cell lines expressed GATA-6. (PMID:15666845)
• cytochrome b5 gene transcription is regulated by Sp3, GATA-6, and steroidogenic factor 1 in human adrenal NCI-H295A cells (PMID:15831526)
• analysis of cAMP-dependent proteolysis of GATA-6 (PMID:15913546)
• GATA-6 detected in ovarian GCTs has retained normal function; exclusive expression of GATA-6 and HNF-4 in endodermal tissues indicates these transcription factors play role in differentiation of germ cells towards endodermal phenotype (PMID:16110260)
• expression of GATA-4 and GATA-6 is up-regulated prior to the transcriptional activation of Nkx 2.5 during cardiogenesis (PMID:16137232)
• GATA6 is expressed in adult mouse brain and several regions of adult human brain. GATA6 is found in neurons, astrocytes, choroids plexus epithelium, and endothelial cells. (PMID:16150495)
• In polycystic ovary syndrome(PCOS) theca cells, GATA6 gene transcription and stability of GATA6 mRNA are increased. Increased gene transcription and mRNA stability are likely due to intrinsic differences in PCOS theca cells. (PMID:16159937)
• Altered histone modification of the promoter loci is one mechanism responsible for the silencing of GATA transcription factors. (PMID:16607277)
• Results identify a conserved function for endodermal GATA transcription factors GATA6 and ELT-2 in regulating local epithelial innate immune responses. (PMID:16968778)
• WNT8B expression in hepatocyte progenitors derived from human ES cells is due to POU5F1 (OCT3/OCT4) and GATA3, and WNT8B expression in diffuse-type gastric cancer is due to POU5F1 and GATA6 (PMID:17390031)
• Cooperative interaction between HNFA4 and GATA4 and GATA6 regulates ABCG5 and ABCG8. (PMID:17403900)
• functional role for GATA-6 in regulation of bladder smooth muscle differentiation (PMID:17626241)
• GATA-6 expression is involved in the regulation of corticosteroid production in both the human fetal and adult adrenals, as well as in adrenocortex development. (PMID:17785913)
• Results describe the cyclic AMP-dependent proteolysis of GATA-6 expressed on the intracellular membrane. (PMID:18078765)
• We demonstrated that overexpression of GATA-6 in fibroblasts inhibited basal levels, as well as markedly decreased IL-4- and TGF-beta-induced TN-C mRNA and protein levels. (PMID:18177748)
• the majority of the ovarian surface epithelial carcinomas retained GATA-4 expression, whereas approximately two-thirds of the carcinomas had mislocalization or loss of GATA-6 expression (PMID:18227727)
• The results suggest differential but overlapping functions for GATA-4 and GATA-6 in the normal gastrointestinal mucosa. Furthermore, GATA-4, GATA-6 and Ihh expression is altered in premalignant dysplastic lesions and reduced in overt cancer. (PMID:18405344)
• MEK-ERK-dependent phosphorylation of GATA-6 plays a role in upregulation of transcription of Nox1 (PMID:18454176)
• GATA6 amplification and overexpression contribute to the oncogenic phenotypes of pancreatic cancer cells. (PMID:18535672)
• Gain and overexpression of the development-related transcription factor GATA-6 may play an important and hitherto unrecognized role in pancreatic carcinogenesis (PMID:18769116)
• MED1 and GATA-6 are key regulators of SULT2A1 expression, and they play important roles in adrenal androgen production. (PMID:19497978)
• Results suggest that diminished expression of GATA6 leads to a compromised nuclear envelope that is causal for polyploidy and aneuploidy in ovarian tumorigenesis. (PMID:19581290)
• The hallmark of idiopathic pulmonary fibrosis histopathology, the fibroblast focus, consists of differentiated, quiescent cells that prominently express GATA-6. (PMID:19597127)
• loss of GATA4 expression through changes in chromatin conformation suggests a potential non-phenotypic initiating event, leading to subsequent loss of GATA6, morphological transformation, and ultimate tumorigenesis (PMID:19649254)
• mutations in GATA6 are genetic causes of congenital heart diseases involving outflow tract defects, as a result of the disruption of the direct regulation of semaphorin 3C-plexin A2 signaling (PMID:19666519)
• Data suggest that nonsynonymous GATA6 sequence variants are infrequently found in individuals with congenital heart defects. (PMID:20581743)
• All these data suggest that GATA6 Ser184Asn is a novel mutation associated with CHDs and has an important role in disease pathogenesis. (PMID:20631719)
• GATA6 is required for the activation of Pdgfra expression in the inner cell mass of the implanting mammalian blastocyst. (PMID:20826533)
• PTEN selectively inhibits expression of VCAM-1 but not ICAM-1 through modulation of PI3K/Akt/GSK-3beta/GATA-6 signaling cascade in TNF-alpha-treated endothelial cells (PMID:20864106)
• Results suggest that the expression of GATA-6 at the early stages of the preterm lung may be related to impaired postnatal alveolar development. (PMID:21071980)
• Data show that GATA6 is an important regulator of uPA gene expression, and the dysregulated expression of GATA6 contributes to colorectal tumorigenesis and tumor invasion. (PMID:21076612)
• GATA6 plays a crucial role for endothelial cell function and survival, at least in part, by suppressing autocrine TGFbeta expression and ALK5-dependent signaling. (PMID:21127043)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	gata6	ENSDARG00000103589
mus_musculus	Gata6	ENSMUSG00000005836
rattus_norvegicus	Gata6	ENSRNOG00000023433
drosophila_melanogaster	srp	FBGN0003507
drosophila_melanogaster	GATAd	FBGN0032223
caenorhabditis_elegans		WBGENE00001250
caenorhabditis_elegans		WBGENE00001252

Paralogs (7): GATA1 (ENSG00000102145), TRPS1 (ENSG00000104447), GATA3 (ENSG00000107485), GATA5 (ENSG00000130700), GATA4 (ENSG00000136574), GATA2 (ENSG00000179348), ZGLP1 (ENSG00000220201)

Protein

Protein identifiers

Transcription factor GATA-6 — Q92908 (reviewed: Q92908)

Alternative names: GATA-binding factor 6

All UniProt accessions (1): Q92908

UniProt curated annotations — full annotation on UniProt →

Function. Transcriptional activator. Regulates SEMA3C and PLXNA2. Involved in gene regulation specifically in the gastric epithelium. May regulate genes that protect epithelial cells from bacterial infection. Involved in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression. Binds to BMP response element (BMPRE) DNA sequences within cardiac activating regions. In human skin, controls several physiological processes contributing to homeostasis of the upper pilosebaceous unit. Triggers ductal and sebaceous differentiation as well as limits cell proliferation and lipid production to prevent hyperseborrhoea. Mediates the effects of retinoic acid on sebocyte proliferation, differentiation and lipid production. Also contributes to immune regulation of sebocytes and antimicrobial responses by modulating the expression of anti-inflammatory genes such as IL10 and pro-inflammatory genes such as IL6, TLR2, TLR4, and IFNG. Activates TGFB1 signaling which controls the interfollicular epidermis fate.

Subunit / interactions. Interacts with LMCD1.

Subcellular location. Nucleus.

Tissue specificity. Expressed in heart, gut and gut-derived tissues. Expressed in skin upper pilosebaceous unit. Expression is decreased or lost in acne lesions.

Disease relevance. Rare variants in GATA6 may be a cause of susceptibility to atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. Conotruncal heart malformations (CTHM) [MIM:217095] A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle. The disease is caused by variants affecting the gene represented in this entry. GATA6 mutations have been found in patients with non-syndromic persistent truncus arteriosus. Atrial septal defect 9 (ASD9) [MIM:614475] A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. Some patients manifest tricuspid valve disease, pulmonary valve disease, and pulmonary artery hypertension. The disease is caused by variants affecting the gene represented in this entry. Tetralogy of Fallot (TOF) [MIM:187500] A congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing cyanosis. The disease is caused by variants affecting the gene represented in this entry. Atrioventricular septal defect 5 (AVSD5) [MIM:614474] A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction. The disease is caused by variants affecting the gene represented in this entry. Pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001] An autosomal dominant disease characterized by pancreatic severe hypoplasia or agenesis, diabetes mellitus, and congenital heart abnormalities including ventricular septal defect, patent ductus arteriosus, pulmonary artery stenosis, truncus arteriosus and tetralogy of Fallot. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The GATA-type zinc fingers mediate interaction with LMCD1.

Induction. In sebocytes, expression is up-regulated by Cutibacterium acnes.

Miscellaneous. Produced by alternative initiation at Met-147 of isoform 1.

Isoforms (2)

UniProt ID	Names	Canonical?
Q92908-1	1	yes
Q92908-2	2

RefSeq proteins (1): NP_005248* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000679	Znf_GATA	Domain
IPR008013	GATA_N	Domain
IPR013088	Znf_NHR/GATA	Homologous_superfamily
IPR039355	Transcription_factor_GATA	Family

Pfam: PF00320, PF05349

UniProt features (38 total): sequence variant 17, compositionally biased region 8, region of interest 4, cross-link 3, zinc finger region 2, chain 1, modified residue 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q92908-F1	53.48	0.14

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (4): 268, 429, 473, 484

Function

Pathways and Gene Ontology

Reactome pathways

6 pathways

ID	Pathway
R-HSA-5683826	Surfactant metabolism
R-HSA-9733709	Cardiogenesis
R-HSA-9823730	Formation of definitive endoderm
R-HSA-983231	Factors involved in megakaryocyte development and platelet production
R-HSA-9937080	Developmental Lineage of Multipotent Pancreatic Progenitor Cells
R-HSA-2892245	POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation

MSigDB gene sets: 669 (showing top): GOBP_CARDIAC_CHAMBER_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_EPITHELIAL_CELL_PROLIFERATION, GOBP_HEPATICOBILIARY_SYSTEM_DEVELOPMENT, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, ACTACCT_MIR196A_MIR196B, GOBP_LUNG_EPITHELIUM_DEVELOPMENT, GOBP_MUSCLE_TISSUE_DEVELOPMENT, BENPORATH_ES_WITH_H3K27ME3, GOBP_CARDIAC_SEPTUM_DEVELOPMENT, GOBP_ANTIMICROBIAL_HUMORAL_RESPONSE, HNF3ALPHA_Q6, GOBP_OUTFLOW_TRACT_SEPTUM_MORPHOGENESIS, GOBP_CORONARY_VASCULATURE_DEVELOPMENT

GO Biological Process (59): negative regulation of transcription by RNA polymerase II (GO:0000122), in utero embryonic development (GO:0001701), liver development (GO:0001889), sebaceous gland cell differentiation (GO:0001949), regulation of antimicrobial humoral response (GO:0002759), outflow tract septum morphogenesis (GO:0003148), atrioventricular node development (GO:0003162), sinoatrial node development (GO:0003163), type B pancreatic cell differentiation (GO:0003309), pancreatic A cell differentiation (GO:0003310), phospholipid metabolic process (GO:0006644), endodermal cell fate determination (GO:0007493), male gonad development (GO:0008584), response to xenobiotic stimulus (GO:0009410), gene expression (GO:0010467), cardiac muscle hypertrophy in response to stress (GO:0014898), epithelial cell differentiation (GO:0030855), response to retinoic acid (GO:0032526), negative regulation of transforming growth factor beta1 production (GO:0032911), negative regulation of transforming growth factor beta2 production (GO:0032912), tube morphogenesis (GO:0035239), atrioventricular canal development (GO:0036302), negative regulation of apoptotic process (GO:0043066), response to estrogen (GO:0043627), cell fate commitment (GO:0045165), positive regulation of angiogenesis (GO:0045766), negative regulation of DNA-templated transcription (GO:0045892), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of transcription by RNA polymerase II (GO:0045944), animal organ formation (GO:0048645), stem cell differentiation (GO:0048863), smooth muscle cell differentiation (GO:0051145), cardiac muscle cell differentiation (GO:0055007), cardiac muscle cell proliferation (GO:0060038), positive regulation of cardiac muscle cell proliferation (GO:0060045), heart contraction (GO:0060047), lung saccule development (GO:0060430), club cell differentiation (GO:0060486), type II pneumocyte differentiation (GO:0060510), intestinal epithelial cell differentiation (GO:0060575)

GO Molecular Function (16): transcription cis-regulatory region binding (GO:0000976), RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), transcription coactivator binding (GO:0001223), chromatin binding (GO:0003682), DNA-binding transcription factor activity (GO:0003700), zinc ion binding (GO:0008270), protein kinase binding (GO:0019901), NFAT protein binding (GO:0051525), DNA-binding transcription factor binding (GO:0140297), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515), sequence-specific DNA binding (GO:0043565), metal ion binding (GO:0046872), RNA polymerase II-specific DNA-binding transcription factor binding (GO:0061629)

GO Cellular Component (5): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), transcription regulator complex (GO:0005667), nuclear membrane (GO:0031965)

Reactome top-level categories

Rollup of top-6 pathways:

Category	Pathways
Metabolism of proteins	1
Developmental Biology	1
Gastrulation	1
Hemostasis	1
Developmental Cell Lineages of the Exocrine Pancreas	1
Transcriptional regulation of pluripotent stem cells	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of transcription by RNA polymerase II	2
cardiac conduction system development	2
endocrine pancreas development	2
enteroendocrine cell differentiation	2
negative regulation of transforming growth factor beta production	2
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
binding	2
cellular anatomical structure	2
transcription by RNA polymerase II	1
negative regulation of DNA-templated transcription	1
chordate embryonic development	1
gland development	1
hepaticobiliary system development	1
epidermal cell differentiation	1
sebaceous gland development	1
regulation of response to biotic stimulus	1
regulation of humoral immune response	1
antimicrobial humoral response	1
regulation of defense response	1
regulation of response to external stimulus	1
outflow tract morphogenesis	1
cardiac septum morphogenesis	1
cardiac muscle tissue development	1
atrial cardiac muscle tissue development	1
lipid metabolic process	1
organophosphate metabolic process	1
cell fate determination	1
endodermal cell fate commitment	1
gonad development	1
development of primary male sexual characteristics	1
response to chemical	1
macromolecule biosynthetic process	1
muscle hypertrophy in response to stress	1
cardiac muscle hypertrophy	1
cardiac muscle adaptation	1
cell differentiation	1
epithelium development	1
response to lipid	1
response to oxygen-containing compound	1
transforming growth factor beta1 production	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

10 interactions, top by confidence:

A	B	Type	Score
	GATA6	psi-mi:“MI:0915”(physical association)	0.400
KLF13	GATA6	psi-mi:“MI:0915”(physical association)	0.400
GATA6	KPNA3	psi-mi:“MI:0915”(physical association)	0.370
EGLN3	FAM168B	psi-mi:“MI:0914”(association)	0.350
rep	SBNO1	psi-mi:“MI:0914”(association)	0.350
EIF1AD	CHEK1	psi-mi:“MI:0914”(association)	0.350
IDE	NEFL	psi-mi:“MI:0914”(association)	0.350
FEV	TAF4	psi-mi:“MI:2364”(proximity)	0.270
	GATA6	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (39): GATA6 (Synthetic Lethality), GATA6 (Proximity Label-MS), GATA6 (Affinity Capture-MS), EP300 (Affinity Capture-Western), GATA6 (Affinity Capture-MS), GATA6 (Affinity Capture-MS), GATA6 (Affinity Capture-MS), GATA6 (Affinity Capture-MS), GATA6 (Affinity Capture-MS), GATA6 (Reconstituted Complex), KLF2 (Two-hybrid), GATA6 (Affinity Capture-MS), GATA6 (Affinity Capture-MS), GATA6 (Affinity Capture-MS), GATA6 (Proximity Label-MS)

ESM2 similar proteins: A0A8V0YY16, A0JPN1, A1YG01, A2D4R4, A2D649, A2T6H5, A2T6Z0, A2T7J2, A3KNJ3, A7MB54, A8MTJ6, B5RHS5, D3Z120, O54743, P09027, P14653, P17919, P31249, P32183, P35584, P55316, P55318, P56260, Q00939, Q12946, Q12947, Q12948, Q12951, Q1A1A1, Q1A1A2, Q1A1A3, Q1A1A4, Q1A1A5, Q1A1A6, Q28D67, Q28HT3, Q3I5G5, Q3Y598, Q60987, Q61080

Diamond homologs: B4XXY3, B7WN96, G5EB20, G5EGF4, G5EGN3, N4XMB0, O09100, O13412, O13415, O13508, O61924, O94720, P15976, P17429, P17678, P17679, P19212, P23767, P23768, P23769, P23770, P23771, P23772, P23773, P23824, P23825, P26343, P28515, P40349, P42944, P43429, P43574, P43691, P43692, P43693, P43694, P43695, P43696, P46152, P46153

SIGNOR signaling

13 interactions.

A	Effect	B	Mechanism
GATA6	“up-regulates quantity by expression”	MYC
GATA6	“up-regulates quantity by expression”	HES1
GATA6	“up-regulates quantity by expression”	RARB
GATA6	“up-regulates quantity by expression”	CDX2
GSK3A	“down-regulates quantity by destabilization”	GATA6	phosphorylation
POU5F1	“down-regulates quantity by repression”	GATA6	“transcriptional regulation”
NANOG	“down-regulates quantity by repression”	GATA6	“transcriptional regulation”
GATA6	“up-regulates quantity by expression”	CYP11A1	“transcriptional regulation”
GATA6	“up-regulates quantity by expression”	CYP17A1	“transcriptional regulation”
GSK3B	“down-regulates quantity by destabilization”	GATA6	phosphorylation
GATA6	“up-regulates quantity by expression”	PLXNA2	“transcriptional regulation”
GATA6	“up-regulates quantity by expression”	SEMA3C	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

760 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	35
Likely pathogenic	14
Uncertain significance	433
Likely benign	231
Benign	12

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1382320	NM_005257.6(GATA6):c.1418_1424del (p.Lys473fs)	Pathogenic
1410108	NM_005257.6(GATA6):c.1321G>T (p.Gly441Ter)	Pathogenic
156010	NM_005257.6(GATA6):c.712G>T (p.Gly238Ter)	Pathogenic
156011	NM_005257.6(GATA6):c.1072del (p.Val358fs)	Pathogenic
1704973	NM_005257.6(GATA6):c.1242C>A (p.Cys414Ter)	Pathogenic
1711184	NM_005257.6(GATA6):c.795del (p.Ser266fs)	Pathogenic
1805832	NM_005257.6(GATA6):c.1108_1121dup (p.Gly375fs)	Pathogenic
2038076	NM_005257.6(GATA6):c.358C>T (p.Gln120Ter)	Pathogenic
211063	NM_005257.6(GATA6):c.1087C>T (p.Gln363Ter)	Pathogenic
2573054	NM_005257.6(GATA6):c.1367G>T (p.Arg456Leu)	Pathogenic
2574532	NM_005257.6(GATA6):c.1435A>G (p.Arg479Gly)	Pathogenic
2579548	NM_005257.6(GATA6):c.1378G>T (p.Glu460Ter)	Pathogenic
2690915	NM_005257.6(GATA6):c.729_730del (p.Gly244fs)	Pathogenic
2807112	NM_005257.6(GATA6):c.616C>T (p.Gln206Ter)	Pathogenic
30206	NM_005257.6(GATA6):c.1457_1458del (p.Glu486fs)	Pathogenic
30207	NM_005257.6(GATA6):c.1396A>C (p.Asn466His)	Pathogenic
30211	NM_005257.6(GATA6):c.1354A>G (p.Thr452Ala)	Pathogenic
30212	NM_005257.6(GATA6):c.1448_1455del (p.Met483fs)	Pathogenic
30213	NM_005257.6(GATA6):c.1366C>T (p.Arg456Cys)	Pathogenic
30215	NM_005257.6(GATA6):c.1396A>G (p.Asn466Asp)	Pathogenic
3061267	NM_005257.6(GATA6):c.1498_1501del (p.Lys500fs)	Pathogenic
3647503	NM_005257.6(GATA6):c.1456_1468del (p.Glu486fs)	Pathogenic
3729421	NM_005257.6(GATA6):c.1151_1155del (p.Leu384fs)	Pathogenic
39844	NM_005257.6(GATA6):c.1504_1505del (p.Lys502fs)	Pathogenic
4071945	NM_005257.6(GATA6):c.1104_1105insACGCTCCCGGTGCC (p.Pro369fs)	Pathogenic
4262180	NM_005257.6(GATA6):c.928del (p.Tyr310fs)	Pathogenic
4689815	NM_005257.6(GATA6):c.1481_1487del (p.Lys494fs)	Pathogenic
4731459	NM_005257.6(GATA6):c.1486A>T (p.Lys496Ter)	Pathogenic
4819649	NM_005257.6(GATA6):c.1020C>G (p.Tyr340Ter)	Pathogenic
524082	NM_005257.6(GATA6):c.925del (p.Gln309fs)	Pathogenic

SpliceAI

1260 predictions. Top by Δscore:

Variant	Effect	Δscore
18:22177117:GCGTG:G	donor_gain	1.0000
18:22177119:GTG:G	donor_gain	1.0000
18:22177122:G:GG	donor_gain	1.0000
18:22181442:A:AG	acceptor_gain	1.0000
18:22181442:ACT:A	acceptor_gain	1.0000
18:22181443:C:G	acceptor_gain	1.0000
18:22181444:T:A	acceptor_gain	1.0000
18:22181447:TTCTA:T	acceptor_loss	1.0000
18:22181448:TCTAG:T	acceptor_loss	1.0000
18:22181449:CTAGC:C	acceptor_loss	1.0000
18:22181450:TAGCC:T	acceptor_loss	1.0000
18:22181451:A:AG	acceptor_gain	1.0000
18:22181451:A:C	acceptor_loss	1.0000
18:22181452:G:GC	acceptor_gain	1.0000
18:22181452:G:T	acceptor_loss	1.0000
18:22181452:GC:G	acceptor_gain	1.0000
18:22181452:GCC:G	acceptor_gain	1.0000
18:22181452:GCCT:G	acceptor_gain	1.0000
18:22181452:GCCTT:G	acceptor_gain	1.0000
18:22181577:GG:G	donor_gain	1.0000
18:22181578:GG:G	donor_gain	1.0000
18:22182934:TTGCA:T	acceptor_loss	1.0000
18:22182935:TGCAG:T	acceptor_loss	1.0000
18:22182936:GCAG:G	acceptor_loss	1.0000
18:22182937:CAGGT:C	acceptor_loss	1.0000
18:22182938:A:AC	acceptor_loss	1.0000
18:22183040:AGGG:A	donor_gain	1.0000
18:22183040:AGGGG:A	donor_loss	1.0000
18:22183041:GGG:G	donor_gain	1.0000
18:22183041:GGGG:G	donor_gain	1.0000

AlphaMissense

3784 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
18:22176987:T:A	C390S	1.000
18:22176987:T:C	C390R	1.000
18:22176988:G:C	C390S	1.000
18:22176989:C:G	C390W	1.000
18:22176995:C:A	N392K	1.000
18:22176995:C:G	N392K	1.000
18:22176996:T:A	C393S	1.000
18:22176996:T:C	C393R	1.000
18:22176997:G:A	C393Y	1.000
18:22176997:G:C	C393S	1.000
18:22176997:G:T	C393F	1.000
18:22176998:C:G	C393W	1.000
18:22177018:T:C	L400P	1.000
18:22177020:T:A	W401R	1.000
18:22177020:T:C	W401R	1.000
18:22177021:G:C	W401S	1.000
18:22177022:G:C	W401C	1.000
18:22177022:G:T	W401C	1.000
18:22177024:G:C	R402P	1.000
18:22177048:T:C	L410P	1.000
18:22177050:T:A	C411S	1.000
18:22177050:T:C	C411R	1.000
18:22177051:G:A	C411Y	1.000
18:22177051:G:C	C411S	1.000
18:22177051:G:T	C411F	1.000
18:22177052:C:G	C411W	1.000
18:22177053:A:G	N412D	1.000
18:22177054:A:T	N412I	1.000
18:22177055:C:A	N412K	1.000
18:22177055:C:G	N412K	1.000

dbSNP variants (sampled 300 via entrez): RS1000153828 (18:22171993 G>A), RS1000162032 (18:22178712 G>A), RS1000216359 (18:22179032 T>C), RS1000227951 (18:22171858 A>C), RS1000426734 (18:22202875 G>T), RS1000512595 (18:22185044 A>G,T), RS1000520523 (18:22199075 C>T), RS1000589576 (18:22192170 T>A), RS1000756323 (18:22171560 T>C,G), RS1000771549 (18:22197881 A>C), RS1000781347 (18:22197615 G>A), RS1000852759 (18:22167670 T>C), RS1000903764 (18:22168001 G>A), RS1001076811 (18:22190990 CA>C), RS1001085695 (18:22198361 G>A)

Disease associations

OMIM: gene MIM:601656 | disease phenotypes: MIM:614474, MIM:187500, MIM:600001, MIM:614475, MIM:217095, MIM:142340, MIM:618752

GenCC curated gene-disease

Disease	Classification	Inheritance
pancreatic hypoplasia-diabetes-congenital heart disease syndrome	Definitive	Autosomal dominant
atrial septal defect 9	Definitive	Autosomal dominant
atrioventricular septal defect 5	Definitive	Autosomal dominant
metabolic syndrome	Strong	Autosomal dominant
neonatal diabetes mellitus	Strong	Autosomal dominant
GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes	Strong	Autosomal dominant
tetralogy of fallot	Moderate	Autosomal dominant
familial atrial fibrillation	Supportive	Autosomal dominant
conotruncal heart malformations	Limited	Autosomal recessive
dilated cardiomyopathy	Limited	Autosomal dominant

ClinGen Gene-Disease Validity (2)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
dilated cardiomyopathy	Limited	AD
GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes	Definitive	AD

Mondo (15): atrioventricular septal defect 5 (MONDO:0013769), persistent truncus arteriosus (MONDO:0018072), monogenic diabetes (MONDO:0015967), tetralogy of fallot (MONDO:0008542), pancreatic hypoplasia-diabetes-congenital heart disease syndrome (MONDO:0010802), atrial septal defect 9 (MONDO:0013770), conotruncal heart malformations (MONDO:0016581), dilated cardiomyopathy (MONDO:0005021), congenital diaphragmatic hernia (MONDO:0005711), GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes (MONDO:0100540), neutropenia, severe congenital, 8, autosomal dominant (MONDO:0032899), atypical coarctation of aorta (MONDO:0015446), (MONDO:0004955), neonatal diabetes mellitus (MONDO:0016391), familial atrial fibrillation (MONDO:0018054)

Orphanet (11): Common arterial trunk (Orphanet:3384), Rare genetic diabetes mellitus (Orphanet:183625), Interatrial communication (Orphanet:1478), Pancreatic hypoplasia-diabetes-congenital heart disease syndrome (Orphanet:2255), Conotruncal heart malformations (Orphanet:2445), Tetralogy of Fallot (Orphanet:3303), Double outlet right ventricle (Orphanet:3426), Dilated cardiomyopathy (Orphanet:217604), Congenital diaphragmatic hernia (Orphanet:2140), Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency (Orphanet:675767), Middle aortic syndrome (Orphanet:1456)

HPO phenotypes

123 total (30 of 123 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000023	Inguinal hernia
HP:0000028	Cryptorchidism
HP:0000073	Ureteral duplication
HP:0000233	Thin vermilion border
HP:0000252	Microcephaly
HP:0000268	Dolichocephaly
HP:0000316	Hypertelorism
HP:0000337	Broad forehead
HP:0000520	Proptosis
HP:0000776	Congenital diaphragmatic hernia
HP:0000819	Diabetes mellitus
HP:0000851	Congenital hypothyroidism
HP:0000857	Neonatal insulin-dependent diabetes mellitus
HP:0000884	Prominent sternum
HP:0000891	Cervical ribs
HP:0000961	Cyanosis
HP:0001156	Brachydactyly
HP:0001195	Single umbilical artery
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001263	Global developmental delay
HP:0001279	Syncope
HP:0001297	Stroke
HP:0001319	Neonatal hypotonia
HP:0001508	Failure to thrive
HP:0001511	Intrauterine growth retardation
HP:0001518	Small for gestational age
HP:0001537	Umbilical hernia

GWAS associations

12 associations (top):

Study	Trait	p-value
GCST000764_14	Tuberculosis	7.000000e-09
GCST002898_41	LDL cholesterol	4.000000e-08
GCST003818_10	Resting heart rate	1.000000e-07
GCST004998_1	Severe progression in rheumatoid arthritis	5.000000e-06
GCST006464_27	Endometrial cancer	5.000000e-07
GCST006465_5	Endometrial cancer (endometrioid histology)	8.000000e-06
GCST006479_149	Diverticular disease	7.000000e-08
GCST007431_61	Lung function (FEV1/FVC)	6.000000e-12
GCST007507_20	Benign prostatic hyperplasia and lower urinary tract symptoms	3.000000e-18
GCST007656_6	Chronic obstructive pulmonary disease or resting heart rate (pleiotropy)	8.000000e-10
GCST010796_311	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST010796_312	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0008336	disease progression measurement
EFO:0009959	diverticular disease
EFO:0004713	FEV/FVC ratio
EFO:0008008	lower urinary tract symptom
EFO:0004327	electrocardiography

MeSH disease descriptors (5)

Descriptor	Name	Tree numbers
D002311	Cardiomyopathy, Dilated	C14.280.195.160; C14.280.238.070; C16.320.488.750
D065630	Hernias, Diaphragmatic, Congenital	C16.131.433; C23.300.707.960.500.116
D013771	Tetralogy of Fallot	C14.240.400.849; C14.280.400.849; C16.131.240.400.849
D014339	Truncus Arteriosus, Persistent	C14.240.400.560.098.500; C14.280.400.560.098.500; C16.131.240.400.560.098.500
C564011	Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

83 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Tretinoin	affects cotreatment, decreases reaction, increases expression, affects expression	6
Valproic Acid	increases expression, affects expression, affects cotreatment	5
sodium arsenite	affects cotreatment, decreases expression, increases abundance, increases expression	3
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases reaction, increases expression	3
Benzo(a)pyrene	decreases expression	3
lead acetate	affects cotreatment, decreases expression, increases expression	2
arsenite	increases methylation, affects binding, decreases reaction	2
cobaltous chloride	increases expression, decreases expression	2
mercuric bromide	increases expression, affects cotreatment	2
Chir 99021	increases expression, decreases reaction, affects binding, affects cotreatment	2
Nickel	decreases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tetrachlorodibenzodioxin	increases expression	2
Cyclosporine	decreases expression	2
Aflatoxin B1	affects expression, decreases methylation	2
Particulate Matter	increases expression	2
aristolochic acid I	increases expression	1
4-oxoretinoic acid	increases expression	1
methylmercuric chloride	decreases expression	1
apocarotenal	increases expression	1
bisphenol A	affects cotreatment, decreases methylation	1
ascorbate-2-phosphate	increases expression, affects binding, affects cotreatment	1
chromous chloride	affects cotreatment, decreases expression	1
nickel chloride	increases expression	1
3,4,5,3’,4’-pentachlorobiphenyl	increases expression	1
chromic oxide	affects cotreatment, decreases expression	1
sulindac sulfone	decreases reaction, increases expression, decreases expression	1
4-(2-(5,6,7,8-tetrahydro-5,5,8,8-tetramethyl-2-naphthalenyl)-1-propenyl)benzoic acid	affects cotreatment, increases expression	1
S-(1,2-dichlorovinyl)cysteine	decreases reaction, increases expression	1
4-oxoretinol	increases expression	1

Cellosaurus cell lines

8 cell lines: 4 embryonic stem cell, 3 cancer cell line, 1 induced pluripotent stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A0ZX	MUSIi015-A	Induced pluripotent stem cell	Female
CVCL_A2G0	SEES3-1V human GATA6, clone1	Embryonic stem cell	Male
CVCL_A2G1	SEES3-1V human GATA6, clone2	Embryonic stem cell	Male
CVCL_A2G2	SEES3-1V human GATA6, clone3	Embryonic stem cell	Male
CVCL_B8GT	Abcam HCT 116 GATA6 KO	Cancer cell line	Male
CVCL_B9J1	Abcam A-549 GATA6 KO	Cancer cell line	Male
CVCL_D0LP	SKLRMe005-A	Embryonic stem cell	Female
CVCL_D2FE	Abcam MCF-7 GATA6 KO	Cancer cell line	Female

Clinical trials (associated diseases)

302 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT01971593	PHASE4	TERMINATED	The Effects of Eplerenone on Markers of Myocardial Fibrosis in Adult Congenital Heart Disease
NCT00374465	PHASE4	UNKNOWN	Therapy With Verapamil or Carvedilol in Chronic Heart Failure
NCT01293903	PHASE4	COMPLETED	Study of Qiliqiangxin Capsule to Treat Dilated Cardiomyopathy
NCT01557140	PHASE4	COMPLETED	A Randomized Trial of Carvedilol in Chronic Chagas Cardiomyopathy
NCT01917149	PHASE4	COMPLETED	Supramaximal Titrated Inhibition of RAAS in Dilated Cardiomyopathy
NCT02115581	PHASE4	COMPLETED	Coenzyme Q10 Supplementation in Children With Idiopathic Dilated Cardiomyopathy
NCT06236022	PHASE4	RECRUITING	The Effects of Sirolimus in Patients With Dilated Cardiomyopathy Infected With Kaposi Sarcoma-associated Virus
NCT05213676	PHASE4	RECRUITING	De-implementing Inhaled Nitric Oxide for Congenital Diaphragmatic Hernia
NCT07247240	PHASE4	NOT_YET_RECRUITING	Efficacy of Inhaled Nitric Oxide in Congenital Diaphragmatic Hernia
NCT00564993	PHASE3	TERMINATED	Cardiac Function Under Stress for Early Detection of the Right Ventricular Insufficiency After Repair of Tetralogy of Fallot
NCT00333827	PHASE3	COMPLETED	Cell Therapy In Dilated Cardiomyopathy
NCT00505154	PHASE3	COMPLETED	Effect of Rosuvastatin on Left Ventricular Remodeling
NCT01223703	PHASE3	COMPLETED	PUFAs and Left Ventricular Function in Heart Failure
NCT01583114	PHASE3	TERMINATED	PREclinical Mutation CARriers From Families With DIlated Cardiomyopathy and ACE Inhibitors
NCT01914081	PHASE3	UNKNOWN	Resveratrol: A Potential Anti- Remodeling Agent in Heart Failure, From Bench to Bedside
NCT02989181	PHASE3	UNKNOWN	Continues Positive Airway Pressure Treatment for Patients With Dilated Cardiomyopathy and Obstructive Sleep Apnea
NCT03439514	PHASE3	TERMINATED	A Study of ARRY-371797 (PF-07265803) in Patients With Symptomatic Dilated Cardiomyopathy Due to a Lamin A/C Gene Mutation
NCT05237323	PHASE3	COMPLETED	Micophenolate Mofetil Versus Azathioprine in Myocarditis
NCT05849766	PHASE3	COMPLETED	Effect of Dapagliflozin on Cardiac Structure, Function and Secondary Mitral Regurgitation in Patients with Left Ventricle Dysfunction
NCT06250257	PHASE3	RECRUITING	Bromocriptine in Dilated Cardiomyopathy Among Women of Reproductive Age
NCT00257946	PHASE3	TERMINATED	Type of Material in Repair of Congenital Diaphragmatic Hernia
NCT03861182	PHASE3	TERMINATED	Contribution of PRF in CDH in Children With Prothetic Patch Closure
NCT06946576	PHASE3	NOT_YET_RECRUITING	Safety and Efficacy of Fetoscopic Endoluminal Tracheal Occlusion in Congenital Diaphragmatic Hernia
NCT07187206	PHASE3	RECRUITING	Safety and Efficacy of FETO in CDH Phase III
NCT00848393	PHASE2	COMPLETED	Measures to Lower the Stress Response in Pediatric Cardiac Surgery
NCT02010905	PHASE2	UNKNOWN	Right Ventricular Dysfunction in Tetralogy of Fallot: Inhibition of the Renin-angiotensin-aldosterone System
NCT00629018	PHASE2	COMPLETED	Safety and Efficacy Study of Stem Cell Transplantation to Treat Dilated Cardiomyopathy
NCT00629096	PHASE2	COMPLETED	Intracoronary Infusion of Autologous Bone Marrow Cells for Treatment of Idiopathic Dilated Cardiomyopathy
NCT00765518	PHASE2	COMPLETED	Use of Ixmyelocel-T (Formerly Cardiac Repair Cell [CRC] Treatment) in Patients With Heart Failure Due to Dilated Cardiomyopathy (IMPACT-DCM)
NCT00847964	PHASE2	COMPLETED	Safety and Feasibility of Algisyl-LVR™ as a Method of Left Ventricular Restoration in Patients With DCM Undergoing Open-heart Surgery
NCT01020968	PHASE2	COMPLETED	Use of Ixmyelocel-T (Formerly Catheter-based Cardiac Repair Cell [CRC]) Treatment in Patients With Heart Failure Due to Dilated Cardiomyopathy
NCT01302171	PHASE2	COMPLETED	Bone Marrow Derived Adult Stem Cells for Dilated Cardiomyopathy
NCT01350310	PHASE2	COMPLETED	Safety and Efficacy Study of Intramyocardial Stem Cell Therapy in Patients With Dilated Cardiomyopathy
NCT02133911	PHASE2	COMPLETED	A Pilot Trial of Ranolazine to Treat Patients With Dilated Cardiomyopathy
NCT03071653	PHASE2	SUSPENDED	Left Cardiac Sympathetic Denervation for Cardiomyopathy Feasibility Pilot Study
NCT03572660	PHASE2	ACTIVE_NOT_RECRUITING	Use of Bone Marrow Derived Stem Cell and G-CSF With Circulatory Assistance in the Treatment of DCM
NCT03775070	PHASE2	COMPLETED	Simvastatin Therapy in Patients With Dilated Cardiomyopathy.
NCT04405804	PHASE2	UNKNOWN	Early Administration of Ivabradine in Children With Heart Failure
NCT05410873	PHASE2	COMPLETED	Examining the Effects of Mitochondrial Oxidative Stress in DCM
NCT06632834	PHASE2	RECRUITING	Outcome-targeted Therapy: Principle and Outcome Evaluation: Clinical Study and Phenotype-genotype Correlation