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FLASH GENE

Symbol

AUTS2

contributors: mct/ - updated : 27-10-2011

HGNC name	autism susceptibility candidate 2
HGNC id	14262

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

AUTS2 , MRD26

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion       PAX5-AUTS2 is a recurrent fusion gene (t(7;9)(q11.2;p13.2)) in pediatric B-cell precursor acute lymphoblastic leukemia

Susceptibility

to autism (AUTS2) to alcohol consumption

Variant & Polymorphism SNP	SNP rs6943555 in AUTS2 associated with alcohol consumption

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

suppression of auts2 in zebrafish embryos caused microcephaly that could be rescued by either the full-length or the C-terminal isoform of AUTS2