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FLASH GENE
Symbol DMRTA2 contributors: mct - updated : 13-02-2018
HGNC name DMRT-like family A2
HGNC id 13908
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional germinal mutation     loss of function
leads to a novel disorder of cortical development with fronto-parietal pachygyria, agenesis of the corpus callosum and progressive severe microcephaly
Susceptibility to Atrial fibrillation (AF)
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • Dmrta2 null mutants demonstrated a dramatic reduction in medial cortical structures such as the cortical hem and the choroid plexus, and a complete loss of the hippocampus