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	HGNC	UniGene	Nucleotide	OMIM		UCSC

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FLASH GENE

Symbol

LRP2

contributors: mct - updated : 07-03-2015

HGNC name	low density lipoprotein-related protein 2
HGNC id	6694

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

FOAR

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   major autoantigen in rhumatoid arthritis constitutional       loss of function in fetal growth restriction constitutional     --low   in diabetic nephropathy, involved in the development of proteinuria/albuminuria

Susceptibility

to diabetic and metabolic syndrome-related nephropathies to autism spectrum disorder (ASD) to diabetes-associated end stage renal disease

Variant & Polymorphism SNP	clusters of rare DRVs associated with ASD
	LRP2 rare variant associated with diabetes-associated end stage renal disease

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

knockout mice, lacking LRP2, lose 25 (OH) D3 in the urine and develop severe bone disease