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FLASH GENE

Symbol

AFF2

contributors: mct/npt/pgu - updated : 15-05-2018

HGNC name	AF4/FMR2 family, member 2
HGNC id	3776

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

FRAXE

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       microdeletions in FMR2 may be a significant cause of premature ovarian failure

Susceptibility

to Autism spectrum disorder (ASD)

Variant & Polymorphism other	rare AFF2 3prime UTR variants at conserved sites which alter gene expression are associated to ASD

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Aff2/Fmr2-null mice display a delay-dependent conditioned fear impairment and hippocampal increased long-term potentiation (LTP)