HAND2 Chromosome 4
Heart and neural crest derivatives expressed 2
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What This Gene Does
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]
Gene Info
Gene Group
Basic helix-loop-helix proteins
Locus Type
gene with protein product
Location
4q34.1
Ensembl
ENSG00000164107
Associated Conditions (2)
Inborn genetic diseases
Dilated cardiomyopathy 1A
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS766470524 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS483353128 | Health Risk | Likely pathogenic | — |
| RS1553974835 | Health Risk | Pathogenic | Dilated cardiomyopathy 1A, Dilated cardiomyopathy 1A |