GATA6

Chr 18AD

GATA binding protein 6

NCBI Gene: 2627ENSG00000141448UniProt: Q92908OMIM: 601656

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. [provided by RefSeq, Mar 2012]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Atrial septal defect 9MIM #614475
AD
Atrioventricular septal defect 5MIM #614474
AD
Pancreatic agenesis and congenital heart defectsMIM #600001
AD
Persistent truncus arteriosusMIM #217095
Tetralogy of FallotMIM #187500
AD
UniProtConotruncal heart malformations

Clinical highlights

Gene-disease validity (ClinGen)
dilated cardiomyopathy · ADLimitednot for standalone diagnostic reporting2 gene-disease associations curated in total
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
1
Active trials
155
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.17
LOEUF· LoF intol.
LOF
Mechanism· G2P
📖
GeneReview available — GATA6
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.17LOEUF
pLI 0.997
Z-score 3.84
OE 0.00 (0.00–0.17)
Highly constrained

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

Missense Constraint?
1.28Z-score
OE missense 0.79 (0.70–0.88)
222 obs / 282.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.00 (0.00–0.17)
0≤0.351.4
Missense OE?0.79 (0.70–0.88)
0≤0.61.4
Synonymous OE?1.02
0≤1.21.6
LoF obs/exp: 0 / 17.2Missense obs/exp: 222 / 282.7Syn Z: -0.17

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GATA6 · protein map & ClinVar variants

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

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients