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FLASH GENE

Symbol

SH2D1A

contributors: mct/npt - updated : 16-02-2016

HGNC name	SH2 domain protein 1A, Duncan's disease (lymphoproliferative syndrome)
HGNC id	10820

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

LYP

related resource

SH2D1Abase: Mutation registry for X-linked lymphoproliferative syndrome (XLP)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       in fatal mononucleoses constitutional     --low   associated with a major defect in humoral immunity, resulting from a lack of T cell help for B cells

Susceptibility

to systemic lupus erythematosus (SLE)

Variant & Polymorphism SNP	intronic SNP of SH2D1A is associated with SLE

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Sap deficient mice were protected from systemic lupus erythematosus (SLE)
	mice deficient in the adaptor protein SAP (Sh2d1a) have a major defect in humoral immunity