GATAD1

Chr 7

GATA zinc finger domain containing 1

Also known as: CMD2B, ODAG, RG083M05.2

NCBI Gene: 57798 ENSG00000157259 UniProt: Q8WUU5

This gene encodes a component of chromatin complexes that binds to trimethylated histone H3 at lysine 4 (H3K4me3), a histone modification associated with active gene transcription. Mutations cause autosomal recessive dilated cardiomyopathy, primarily affecting cardiac function. The inheritance pattern is autosomal recessive.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCardiomyopathy, dilated, 2B

Clinical highlights

Gene-disease validity (ClinGen)

dilated cardiomyopathy 2B · ARLimitednot for standalone diagnostic reporting

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.65

LOEUF

LOF

Mechanism· predicted

📖

GeneReview available — GATAD1