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FLASH GENE

Symbol

STMN2

contributors: mct/shn - updated : 06-12-2022

HGNC name	stathmin-like 2
HGNC id	10577

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     --low   is found in neurons trans-differentiated from patient fibroblasts expressing an ALS-causing TARDBP mutation, in motor cortex and spinal motor neurons from patients with sporadic ALS

Susceptibility

to Alzheimer disease to sporadic ALS (sALS)

Variant & Polymorphism other	non-coding CA repeat in Stathmin-2 which is associated with sporadic ALS (sALS) disease risk and has disease modifying effects
	truncated STMN2 is a marker for TARDBP dysfunction in frontotemporal dementia (FTD)

Candidate gene
Marker	utility of STMN2 as an efficient and selective marker of sensory axon regeneration
Therapy target
	System Type Disorder Pubmed cancer digestive stomach blocking PAK4-mediated STMN2 phosphorylation might be a potential therapeutic strategy for metastasis of gastric cancer neurology neurodegenerative   restoring STMN2 expression warrants examination as a therapeutic strategy for amyotrophic lateral sclerosis (ALS)

ANIMAL & CELL MODELS

	Both mosaic founders and homozygous loss-of-function Stmn2 mice exhibited neuromuscular junction denervation and fragmentation, resulting in muscle atrophy and impaired motor behavior, accompanied by an imbalance in neuronal microtubule dynamics in the spinal cord
	STMN2 knockout heterozygous mice, which better model the partial loss of STMN2 protein found in patients with ALS, display a slowly progressive, motor-selective neuropathy with functional deficits and neuromuscular junction (NMJ) denervation