HAND2

Chr 4

heart and neural crest derivatives expressed 2

Also known as: DHAND2, Hed, Thing2, bHLHa26, dHand

NCBI Gene: 9464 ENSG00000164107 UniProt: P61296 OMIM: 602407

HAND2 encodes a basic helix-loop-helix transcription factor that is essential for cardiac morphogenesis, particularly formation of the right ventricle and aortic arch arteries, and also regulates limb development and branchial arch formation. Mutations cause congenital heart defects and limb malformations with autosomal dominant inheritance. The gene has moderate constraint against loss-of-function variants, and clinical manifestations are typically apparent at birth due to structural abnormalities.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, this transcription factor plays an important role in limb and branchial arch development. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)

HAND2 related congenital heart defect · ADModerateconsider for supplementary testing

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.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.94

LOEUF

LOF

Mechanism· predicted