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FLASH GENE

Symbol

STIM1

contributors: mct/npt/pgu - updated : 16-03-2016

HGNC name	stromal interaction molecule 1
HGNC id	11386

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

TBAM , IMD10

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   LOH     in rhabdomyosarcoma and rhabdoid tumor constitutional       loss of function of STIM1 and STIM2 in T cells, and the consequent aberrations in T cell function, underlies the onset and progression of salivary gland autoimmunopathy in Sjögren syndrome

Susceptibility

Variant & Polymorphism

Candidate gene	plays an essential role in the development of cardiomyocyte hypertrophy
Marker
Therapy target

ANIMAL & CELL MODELS

	mice lacking functional STIM1 die perinatally from a skeletal myopathy
	mice deficient for both endoplasmic reticulum calcium sensor Stim1 and Stim2 was immunized with T-cell dependent and independent antigens