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	HGNC	UniGene	Nucleotide	OMIM	UCSC

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FLASH GENE

Symbol

HAND2

contributors: mct/npt/pgu/shn - updated : 06-12-2013

HGNC name	heart and neural crest derivatives expressed 2
HGNC id	4808

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   represses chondrogenesis and the expression of chondrocytic genes, SOX9, type II collagen and aggrecan constitutional   amplification     recurring copy-number variants in congenital heart disease

Susceptibility

to Saethre-Chotzen syndrome and limb abnormalities

Variant & Polymorphism

Candidate gene	may be a potential candidate gene of stenosis of the right ventricle, outflow tract
Marker
Therapy target

ANIMAL & CELL MODELS

	Targeted deletion of the dHAND gene in mice revealed severe defects of embryonic and yolk sac vascular development by embryonic day 9.5
	Hand2 deletion in mouse nestin-expressing neural precursor cells impacts development of the enteric nervous system resulting in a marked disruption of the developing neural network, exemplified by lack of a myenteric plexus and extensive overgrowth of fibers