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FLASH GENE

Symbol

SPTBN2

contributors: mct/npt - updated : 21-05-2019

HGNC name	spectrin, beta, non-erythrocytic 2
HGNC id	11276

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

SCA5 , SCAR14

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   decreased in atrial samples of patients with atrial fibrillation compared with tissue from patients in sinus rhythm

Susceptibility

to Attention-deficit/hyperactivity disorder (ADHD)

Variant & Polymorphism other	DNA methylation of one CpG site in SPTBN2 is associated with attention deficits in children

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS